#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
HTR1B	3351	broad.mit.edu	37	6	78172306	78172306	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:78172306G>A	ENST00000369947.2	-	1	1184	c.815C>T	c.(814-816)tCg>tTg	p.S272L		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	272					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S272*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGGAACCCGCGAGTTAATAGA	0.572																																						ENST00000369947.2																			1	Substitution - Nonsense(1)	p.S272*(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(814-816)tCg>tTg		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						87.0	100.0	95.0					6																	78172306		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172306G>A	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.815C>T	6.37:g.78172306G>A	ENSP00000358963:p.Ser272Leu						p.S272L	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	1184	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	272					Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.815C>T	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122179	0.37436	.	.	ENSG00000135312	ENST00000369947	T	0.63744	-0.06	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.207171	0.42172	D	0.000757	T	0.51312	0.1667	M	0.66560	2.04	0.46981	D	0.999275	P	0.35192	0.489	B	0.35114	0.196	T	0.54159	-0.8335	9	.	.	.	.	17.745	0.88418	0.0:0.0:1.0:0.0	.	272	P28222	5HT1B_HUMAN	L	272	ENSP00000358963:S272L	.	S	-	2	0	HTR1B	78229025	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.673000	0.46858	2.665000	0.90641	0.561000	0.74099	TCG		0.572	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		49	142	0	0	0	1	0	49	142				
ICAM5	7087	broad.mit.edu	37	19	10404587	10404587	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:10404587C>T	ENST00000221980.4	+	7	1742	c.1679C>T	c.(1678-1680)tCt>tTt	p.S560F		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	560	Ig-like C2-type 6.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCTCGGGGCTCTGCGGCCAAA	0.667																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(1678-1680)tCt>tTt		intercellular adhesion molecule 5, telencephalin							42.0	49.0	47.0					19																	10404587		2202	4300	6502	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10404587C>T	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1679C>T	19.37:g.10404587C>T	ENSP00000221980:p.Ser560Phe						p.S560F	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		7	1742	+			560			Ig-like C2-type 6.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1679C>T	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821635	0.32237	.	.	ENSG00000105376	ENST00000221980	T	0.16073	2.37	5.5	4.46	0.54185	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.235326	0.30437	N	0.009630	T	0.33469	0.0864	M	0.64676	1.99	0.09310	N	1	P	0.51933	0.949	P	0.59424	0.857	T	0.08827	-1.0703	10	0.62326	D	0.03	-9.2302	11.7021	0.51577	0.1771:0.8229:0.0:0.0	.	560	Q9UMF0	ICAM5_HUMAN	F	560	ENSP00000221980:S560F	ENSP00000221980:S560F	S	+	2	0	ICAM5	10265587	0.042000	0.20092	0.007000	0.13788	0.012000	0.07955	1.782000	0.38654	1.320000	0.45209	0.549000	0.68633	TCT		0.667	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		6	75	0	0	0	1	0	6	75				
PHACTR3	116154	broad.mit.edu	37	20	58330363	58330363	+	Missense_Mutation	SNP	C	C	T	rs145693547	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:58330363C>T	ENST00000371015.1	+	4	952	c.485C>T	c.(484-486)aCg>aTg	p.T162M	PHACTR3_ENST00000541461.1_Missense_Mutation_p.T121M|PHACTR3_ENST00000361300.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000355648.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000395639.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000359926.3_Missense_Mutation_p.T159M|PHACTR3_ENST00000395636.2_Missense_Mutation_p.T121M	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	162						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.T162M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GCCACTGGGACGGACCAGGTC	0.607													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		13645	0.0		0.0	False		,,,				2504	0.001					ENST00000371015.1																			1	Substitution - Missense(1)	p.T162M(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(484-486)aCg>aTg		phosphatase and actin regulator 3		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	40.0	35.0	37.0		476,362,485,362,362	0.4	0.0	20	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	81,81,81,81,81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	159/557,121/519,162/560,121/519,121/449	58330363	3,13003	2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58330363C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.485C>T	20.37:g.58330363C>T	ENSP00000360054:p.Thr162Met					PHACTR3_ENST00000395639.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000359926.3_Missense_Mutation_p.T159M|PHACTR3_ENST00000355648.4_Missense_Mutation_p.T121M|PHACTR3_ENST00000395636.2_Missense_Mutation_p.T121M|PHACTR3_ENST00000541461.1_Missense_Mutation_p.T121M|PHACTR3_ENST00000361300.4_Missense_Mutation_p.T121M	p.T162M	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		4	952	+	all_lung(29;0.00344)		162					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.485C>T	CCDS13480.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.86	2.064792	0.36470	4.54E-4	1.16E-4	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.33438	1.85;1.86;1.41;1.86;1.86;1.86;1.41	3.6	0.373	0.16178	.	0.555420	0.19899	N	0.103544	T	0.38558	0.1045	L	0.46157	1.445	0.09310	N	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.959;0.959	T	0.13602	-1.0503	10	0.40728	T	0.16	-6.8102	3.5926	0.07994	0.1956:0.5729:0.0:0.2315	.	121;162;159	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	M	159;162;121;121;121;121;121	ENSP00000353002:T159M;ENSP00000360054:T162M;ENSP00000379001:T121M;ENSP00000442483:T121M;ENSP00000347866:T121M;ENSP00000378998:T121M;ENSP00000354555:T121M	ENSP00000347866:T121M	T	+	2	0	PHACTR3	57763758	0.116000	0.22171	0.017000	0.16124	0.052000	0.14988	1.158000	0.31737	-0.010000	0.14271	-0.282000	0.10007	ACG		0.607	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		7	25	0	0	0	1	0	7	25				
GRK5	2869	broad.mit.edu	37	10	121196222	121196222	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:121196222G>A	ENST00000392870.2	+	9	1127	c.798G>A	c.(796-798)atG>atA	p.M266I	GRK5_ENST00000369108.3_Missense_Mutation_p.M161I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGACCATCATGAATGGGGGTG	0.552																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(796-798)atG>atA		G protein-coupled receptor kinase 5							151.0	119.0	130.0					10																	121196222		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121196222G>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.798G>A	10.37:g.121196222G>A	ENSP00000376609:p.Met266Ile					GRK5_ENST00000369108.3_Missense_Mutation_p.M161I	p.M266I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	9	1127	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	266			Protein kinase.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.798G>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095293	0.94197	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.25579	1.79;1.79	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.44808	0.1311	L	0.41573	1.285	0.80722	D	1	D;D	0.59357	0.985;0.985	D;D	0.74348	0.983;0.983	T	0.38394	-0.9663	10	0.72032	D	0.01	-26.1183	18.8512	0.92230	0.0:0.0:1.0:0.0	.	266;266	B2R7K0;P34947	.;GRK5_HUMAN	I	266;161;161	ENSP00000376609:M266I;ENSP00000358104:M161I	ENSP00000358104:M161I	M	+	3	0	GRK5	121186212	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.697000	0.98697	2.442000	0.82660	0.557000	0.71058	ATG		0.552	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		7	42	0	0	0	1	0	7	42				
OSBPL10	114884	broad.mit.edu	37	3	31789571	31789571	+	Silent	SNP	G	G	A	rs550750688		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:31789571G>A	ENST00000396556.2	-	5	893	c.771C>T	c.(769-771)caC>caT	p.H257H	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Silent_p.H193H	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	257					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACTCAATGGCGTGCACAAGGT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17783	0.0		0.0	False		,,,				2504	0.001					ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(769-771)caC>caT		oxysterol binding protein-like 10							69.0	54.0	59.0					3																	31789571		2203	4300	6503	SO:0001819	synonymous_variant	114884				lipid transport		lipid binding	g.chr3:31789571G>A	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.771C>T	3.37:g.31789571G>A						OSBPL10_ENST00000438237.2_Silent_p.H193H|OSBPL10_ENST00000467647.1_5'UTR	p.H257H	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	5	893	-			257					B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	c.771C>T	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600677	0.13939	.	.	ENSG00000144645	ENST00000429492	.	.	.	5.63	-4.52	0.03472	.	.	.	.	.	T	0.47967	0.1474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46898	-0.9158	4	.	.	.	-18.7156	6.5598	0.22479	0.5385:0.0:0.16:0.3016	.	.	.	.	M	26	.	.	T	-	2	0	OSBPL10	31764575	0.120000	0.22244	0.885000	0.34714	0.717000	0.41224	-0.738000	0.04871	-0.606000	0.05746	-0.258000	0.10820	ACG		0.592	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			6	37	0	0	0	1	0	6	37				
SLC4A8	9498	broad.mit.edu	37	12	51888824	51888824	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr12:51888824C>G	ENST00000453097.2	+	21	3082	c.2865C>G	c.(2863-2865)ttC>ttG	p.F955L	SLC4A8_ENST00000358657.3_Missense_Mutation_p.F982L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGCACCTCTTCACCCTCATCC	0.498																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(2863-2865)ttC>ttG		solute carrier family 4, sodium bicarbonate cotransporter, member 8							138.0	114.0	122.0					12																	51888824		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51888824C>G	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2865C>G	12.37:g.51888824C>G	ENSP00000405812:p.Phe955Leu					SLC4A8_ENST00000358657.3_Missense_Mutation_p.F982L	p.F955L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	21	3082	+			955						Missense_Mutation	SNP	ENST00000453097.2	37	c.2865C>G	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136294	0.94517	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	D;D	0.83163	-1.69;-1.69	5.52	5.52	0.82312	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	H	0.96518	3.835	0.80722	D	1	D;D;D	0.71674	0.984;0.998;0.998	P;D;D	0.91635	0.868;0.999;0.999	D	0.95594	0.8657	10	0.87932	D	0	.	18.5958	0.91229	0.0:1.0:0.0:0.0	.	982;955;955	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	L	982;955;955;902	ENSP00000351483:F982L;ENSP00000405812:F955L	ENSP00000315789:F955L	F	+	3	2	SLC4A8	50175091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.756000	0.47549	2.767000	0.95098	0.655000	0.94253	TTC		0.498	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		14	66	0	0	0	1	0	14	66				
DCAF4L2	138009	broad.mit.edu	37	8	88885093	88885093	+	Silent	SNP	A	A	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr8:88885093A>C	ENST00000319675.3	-	1	1203	c.1107T>G	c.(1105-1107)tcT>tcG	p.S369S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	369										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGAGGCGAGAAGAGAAGGCCA	0.592																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(1105-1107)tcT>tcG		DDB1 and CUL4 associated factor 4-like 2							66.0	73.0	71.0					8																	88885093		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885093A>C	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1107T>G	8.37:g.88885093A>C							p.S369S	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1203	-			369						Silent	SNP	ENST00000319675.3	37	c.1107T>G	CCDS6245.1																																																																																				0.592	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		13	50	0	0	0	1	0	13	50				
OR51B6	390058	broad.mit.edu	37	11	5373372	5373372	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:5373372T>C	ENST00000380219.1	+	1	635	c.635T>C	c.(634-636)aTc>aCc	p.I212T	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	212					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCATCATCTTTTTCTCC	0.448																																						ENST00000380219.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(634-636)aTc>aCc		olfactory receptor, family 51, subfamily B, member 6							229.0	204.0	213.0					11																	5373372		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373372T>C		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.635T>C	11.37:g.5373372T>C	ENSP00000369568:p.Ile212Thr					HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.I212T	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	635	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	212						Missense_Mutation	SNP	ENST00000380219.1	37	c.635T>C	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915721	0.33815	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00309	8.16	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.112584	0.39083	N	0.001470	T	0.00815	0.0027	M	0.88906	2.99	0.28286	N	0.923746	D	0.71674	0.998	D	0.76575	0.988	T	0.17837	-1.0356	10	0.87932	D	0	.	13.9298	0.63989	0.0:0.0:0.0:1.0	.	212	Q9H340	O51B6_HUMAN	T	211;212	ENSP00000369568:I212T	ENSP00000369568:I212T	I	+	2	0	OR51B6	5329948	0.999000	0.42202	0.049000	0.19019	0.045000	0.14185	4.606000	0.61126	2.157000	0.67596	0.455000	0.32223	ATC		0.448	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		16	49	0	0	0	1	0	16	49				
PPFIA3	8541	broad.mit.edu	37	19	49652940	49652940	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:49652940C>T	ENST00000334186.4	+	28	3840	c.3491C>T	c.(3490-3492)tCt>tTt	p.S1164F	PPFIA3_ENST00000602351.1_Missense_Mutation_p.S1155F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1164					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.G1160fs*>21(2)|p.S1164F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCCCTGGGCTCTCCGGGGCTC	0.652																																						ENST00000334186.4																			3	Deletion - Frameshift(2)|Substitution - Missense(1)	p.G1160fs*>21(2)|p.S1164F(1)	liver(2)|skin(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(3490-3492)tCt>tTt		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							17.0	20.0	19.0					19																	49652940		2202	4299	6501	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49652940C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3491C>T	19.37:g.49652940C>T	ENSP00000335614:p.Ser1164Phe					PPFIA3_ENST00000602351.1_Missense_Mutation_p.S1155F	p.S1164F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	28	3840	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	1164					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.3491C>T	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272796	0.80580	.	.	ENSG00000177380	ENST00000334186	T	0.21191	2.02	4.08	4.08	0.47627	.	0.000000	0.43919	U	0.000512	T	0.29190	0.0726	L	0.43923	1.385	0.80722	D	1	P;P	0.40909	0.732;0.641	P;B	0.48598	0.583;0.276	T	0.08249	-1.0731	10	0.72032	D	0.01	-6.9455	15.6421	0.77012	0.0:1.0:0.0:0.0	.	1155;1164	O75145-2;O75145	.;LIPA3_HUMAN	F	1164	ENSP00000335614:S1164F	ENSP00000335614:S1164F	S	+	2	0	PPFIA3	54344752	0.999000	0.42202	0.976000	0.42696	0.910000	0.53928	3.379000	0.52440	2.294000	0.77228	0.456000	0.33151	TCT		0.652	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		5	37	0	0	0	1	0	5	37				
SYNE1	23345	broad.mit.edu	37	6	152719867	152719867	+	Splice_Site	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:152719867C>G	ENST00000367255.5	-	49	7839		c.e49-1		SYNE1_ENST00000341594.5_Missense_Mutation_p.E2451Q|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCATAGACTCTTTTGAAAGa	0.368										HNSCC(10;0.0054)																												ENST00000341594.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(7351-7353)Gag>Cag		spectrin repeat containing, nuclear envelope 1							76.0	75.0	76.0					6																	152719867		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152719867C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7238-1G>C	6.37:g.152719867C>G		HNSCC(10;0.0054)				SYNE1_ENST00000367255.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site	p.E2451Q			Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	52	7952	-		Ovarian(120;0.0955)	2413					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.7351G>C	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.092250|4.092250	0.76756|0.76756	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038|ENST00000341594	.|T	.|0.49720	.|0.77	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.912782	.|0.09278	.|N	.|0.824181	.|T	.|0.53061	.|0.1773	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48536	.|-0.9027	.|6	.|.	.|.	.|.	.|.	18.7063|18.7063	0.91640|0.91640	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|Q	-1|2451	.|ENSP00000341887:E2451Q	.|.	.|E	-|-	.|1	.|0	SYNE1|SYNE1	152761560|152761560	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.868000|0.868000	0.49771|0.49771	5.020000|5.020000	0.64066|0.64066	2.463000|2.463000	0.83235|0.83235	0.655000|0.655000	0.94253|0.94253	.|GAG		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	10	30	0	0	0	1	0	10	30				
MYO10	4651	broad.mit.edu	37	5	16794760	16794760	+	Silent	SNP	G	G	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:16794760G>T	ENST00000513610.1	-	4	916	c.462C>A	c.(460-462)ctC>ctA	p.L154L		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	154	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GTTACCTGATGAGGATGCACT	0.647																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(460-462)ctC>ctA		myosin X							29.0	34.0	32.0					5																	16794760		2138	4234	6372	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16794760G>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.462C>A	5.37:g.16794760G>T							p.L154L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			4	916	-			154			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.462C>A	CCDS54834.1																																																																																				0.647	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		6	17	1	0	0.00116845	1	0.00118324	6	17				
GRIK1	2897	broad.mit.edu	37	21	30909552	30909552	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr21:30909552C>T	ENST00000389125.3	-	16	2841	c.2717G>A	c.(2716-2718)tGa>tAa	p.*906*	GRIK1_ENST00000399914.1_Silent_p.*935*|GRIK1_ENST00000327783.4_Silent_p.*950*|GRIK1_ENST00000399913.1_Silent_p.*921*|GRIK1_ENST00000535441.1_Silent_p.*923*	NM_175611.2	NP_783300.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|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 postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|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)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTCCTTGGATCACGCCACAGT	0.383																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2803-2805)tGa>tAa		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						88.0	82.0	84.0					21																	30909552		2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30909552C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000389125.3:c.2717G>A	21.37:g.30909552C>T						GRIK1_ENST00000535441.1_Silent_p.*923*|GRIK1_ENST00000327783.4_Silent_p.*950*|GRIK1_ENST00000389125.3_Silent_p.*906*|GRIK1_ENST00000399913.1_Silent_p.*921*	p.*935*			P39086	GRIK1_HUMAN			17	3325	-			0					Q13001|Q86SU9	Silent	SNP	ENST00000389125.3	37	c.2804G>A	CCDS33530.1																																																																																				0.383	GRIK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171978.1			7	22	0	0	0	1	0	7	22				
CYP2B7P	1556	broad.mit.edu	37	19	41448092	41448092	+	RNA	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:41448092C>G	ENST00000599198.1	+	0	999					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TGCTCATGCTCAAATACCCTC	0.567																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														1556							g.chr19:41448092C>G																													19.37:g.41448092C>G								NR_001278.1						0	999	+									RNA	SNP	ENST00000599198.1	37																																																																																						0.567	CYP2B7P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465180.1			10	49	0	0	0	1	0	10	49				
HECW2	57520	broad.mit.edu	37	2	197184440	197184440	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:197184440G>C	ENST00000260983.3	-	9	1356	c.1174C>G	c.(1174-1176)Ctg>Gtg	p.L392V	HECW2_ENST00000409111.1_Missense_Mutation_p.L36V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	392					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCTATTTCCAGAGTGGAGCTA	0.502																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1174-1176)Ctg>Gtg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							98.0	97.0	98.0					2																	197184440		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184440G>C	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1174C>G	2.37:g.197184440G>C	ENSP00000260983:p.Leu392Val					HECW2_ENST00000409111.1_Missense_Mutation_p.L36V	p.L392V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	1356	-			392					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1174C>G	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	7.657	0.684162	0.14907	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.33654	1.4;1.49	5.64	3.72	0.42706	.	1.070580	0.07158	N	0.850247	T	0.24005	0.0581	N	0.12182	0.205	0.31849	N	0.622529	B	0.22003	0.063	B	0.22152	0.038	T	0.18085	-1.0348	10	0.30078	T	0.28	.	10.6743	0.45776	0.073:0.0:0.7883:0.1387	.	392	Q9P2P5	HECW2_HUMAN	V	36;392	ENSP00000386775:L36V;ENSP00000260983:L392V	ENSP00000260983:L392V	L	-	1	2	HECW2	196892685	0.986000	0.35501	0.955000	0.39395	0.691000	0.40173	2.061000	0.41403	1.623000	0.50342	0.650000	0.86243	CTG		0.502	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		11	69	0	0	0	1	0	11	69				
FAM172A	83989	broad.mit.edu	37	5	92956773	92956773	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:92956773C>A	ENST00000395965.3	-	11	1313	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FAM172A_ENST00000505869.1_Nonsense_Mutation_p.E281*|FAM172A_ENST00000509739.1_Nonsense_Mutation_p.E244*|MIR2277_ENST00000515916.1_RNA|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.E345*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	391						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCTGAGGCTTCGGTAAAGAAT	0.577																																						ENST00000395965.3																			0				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1171-1173)Gaa>Taa		family with sequence similarity 172, member A							54.0	56.0	56.0					5																	92956773		2203	4300	6503	SO:0001587	stop_gained	83989					endoplasmic reticulum|extracellular region		g.chr5:92956773C>A		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.1171G>T	5.37:g.92956773C>A	ENSP00000379294:p.Glu391*					FAM172A_ENST00000509739.1_Nonsense_Mutation_p.E244*|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.E345*|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.E281*	p.E391*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN			11	1313	-			391					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Nonsense_Mutation	SNP	ENST00000395965.3	37	c.1171G>T	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199039	0.79015	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	.	.	.	3.3	3.3	0.37823	.	0.220692	0.37095	N	0.002255	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-14.687	14.0846	0.64947	0.0:1.0:0.0:0.0	.	.	.	.	X	391;281;244;345	.	ENSP00000379294:E391X	E	-	1	0	FAM172A	92982529	0.998000	0.40836	0.999000	0.59377	0.983000	0.72400	2.895000	0.48648	1.824000	0.53156	0.484000	0.47621	GAA		0.577	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		9	51	1	0	2.17888e-05	1	2.23475e-05	9	51				
DPYSL3	1809	broad.mit.edu	37	5	146785192	146785192	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:146785192G>A	ENST00000398514.3	-	8	1163	c.792C>T	c.(790-792)atC>atT	p.I264I	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Silent_p.I378I	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	264					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTTGTGAGATGAGGTCAG	0.507																																						ENST00000343218.5																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1132-1134)atC>atT		dihydropyrimidinase-like 3							254.0	257.0	256.0					5																	146785192		2136	4278	6414	SO:0001819	synonymous_variant	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146785192G>A	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.792C>T	5.37:g.146785192G>A						DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Silent_p.I264I	p.I378I	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	1331	-			264					B3SXQ8|Q93012	Silent	SNP	ENST00000398514.3	37	c.1134C>T	CCDS43381.1																																																																																				0.507	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		50	214	0	0	0	1	0	50	214				
ZNF845	91664	broad.mit.edu	37	19	53856028	53856028	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:53856028C>T	ENST00000595091.1	+	5	2319	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	ZNF845_ENST00000458035.1_Silent_p.F700F			Q96IR2	ZN845_HUMAN	zinc finger protein 845	700				Missing (in Ref. 1; BAG58121). {ECO:0000305}.	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(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GCAAGACCTTCGGTCGAAATT	0.438																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2098-2100)ttC>ttT		zinc finger protein 845							97.0	95.0	95.0					19																	53856028		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856028C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2100C>T	19.37:g.53856028C>T						ZNF845_ENST00000595091.1_Silent_p.F700F	p.F700F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2217	+			700	Missing (in Ref. 1; BAG58121).					Silent	SNP	ENST00000595091.1	37	c.2100C>T	CCDS46170.1																																																																																				0.438	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		62	105	0	0	0	1	0	62	105				
TBC1D8	11138	broad.mit.edu	37	2	101675982	101675982	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:101675982G>A	ENST00000376840.4	-	3	257	c.258C>T	c.(256-258)atC>atT	p.I86I	TBC1D8_ENST00000409318.1_Silent_p.I101I			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	86					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AGTGCTGATTGATTTCCTCTA	0.368																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(301-303)atC>atT		TBC1 domain family, member 8 (with GRAM domain)							165.0	158.0	160.0					2																	101675982		1875	4110	5985	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101675982G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.258C>T	2.37:g.101675982G>A						TBC1D8_ENST00000376840.4_Silent_p.I86I	p.I101I	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			3	433	-			86					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.303C>T	CCDS46375.1																																																																																				0.368	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		18	78	0	0	0	1	0	18	78				
SLIT2	9353	broad.mit.edu	37	4	20530620	20530620	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:20530620T>C	ENST00000504154.1	+	16	1763	c.1511T>C	c.(1510-1512)cTg>cCg	p.L504P	SLIT2_ENST00000503837.1_Missense_Mutation_p.L500P|MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000273739.5_Missense_Mutation_p.L508P|SLIT2_ENST00000503823.1_Missense_Mutation_p.L496P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	504	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTGCGGATCTGGCTTGCCCT	0.408																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1510-1512)cTg>cCg		slit homolog 2 (Drosophila)							121.0	123.0	122.0					4																	20530620		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20530620T>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1511T>C	4.37:g.20530620T>C	ENSP00000422591:p.Leu504Pro					SLIT2_ENST00000503823.1_Missense_Mutation_p.L496P|SLIT2_ENST00000273739.5_Missense_Mutation_p.L508P|SLIT2_ENST00000503837.1_Missense_Mutation_p.L500P	p.L504P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			16	1763	+			504			LRRNT 3.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1511T>C	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951163	0.53186	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	L	0.28344	0.845	0.80722	D	1	B;B	0.13145	0.007;0.0	B;B	0.17098	0.017;0.001	T	0.02829	-1.1105	10	0.33141	T	0.24	.	16.3839	0.83495	0.0:0.0:0.0:1.0	.	496;504	O94813-3;O94813	.;SLIT2_HUMAN	P	496;504;508;500;500	ENSP00000427548:L496P;ENSP00000422591:L504P;ENSP00000273739:L508P;ENSP00000422261:L500P	ENSP00000273739:L508P	L	+	2	0	SLIT2	20139718	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	5.964000	0.70379	2.258000	0.74832	0.533000	0.62120	CTG		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			18	61	0	0	0	1	0	18	61				
NGLY1	55768	broad.mit.edu	37	3	25773966	25773966	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:25773966C>T	ENST00000280700.5	-	9	1429	c.1269G>A	c.(1267-1269)ctG>ctA	p.L423L	NGLY1_ENST00000396649.3_Silent_p.L423L|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000428257.1_Silent_p.L405L|NGLY1_ENST00000417874.2_Silent_p.L381L	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	423					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CTGACAAAAACAGTTGCCTCT	0.353																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1213-1215)ctG>ctA		N-glycanase 1							62.0	61.0	61.0					3																	25773966		2203	4300	6503	SO:0001819	synonymous_variant	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25773966C>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1269G>A	3.37:g.25773966C>T						NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000417874.2_Silent_p.L381L|NGLY1_ENST00000280700.5_Silent_p.L423L|NGLY1_ENST00000396649.3_Silent_p.L423L	p.L405L	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			9	1322	-			423					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Silent	SNP	ENST00000280700.5	37	c.1215G>A	CCDS33719.1																																																																																				0.353	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			8	32	0	0	0	1	0	8	32				
FMO1	2326	broad.mit.edu	37	1	171251239	171251239	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:171251239C>G	ENST00000354841.4	+	6	1081	c.950C>G	c.(949-951)tCa>tGa	p.S317*	FMO1_ENST00000367750.3_Nonsense_Mutation_p.S317*|FMO1_ENST00000402921.2_Nonsense_Mutation_p.S254*|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	317					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AACAATACTTCAAAGGAAGAG	0.428																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(949-951)tCa>tGa		flavin containing monooxygenase 1							137.0	126.0	130.0					1																	171251239		2203	4300	6503	SO:0001587	stop_gained	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251239C>G	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.950C>G	1.37:g.171251239C>G	ENSP00000346901:p.Ser317*					FMO1_ENST00000402921.2_Nonsense_Mutation_p.S254*|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Nonsense_Mutation_p.S317*	p.S317*			Q01740	FMO1_HUMAN			6	1081	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		317					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Nonsense_Mutation	SNP	ENST00000354841.4	37	c.950C>G	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333198	0.81801	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	.	.	.	6.03	5.11	0.69529	.	0.229237	0.44688	D	0.000427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.447	15.4754	0.75474	0.1398:0.8602:0.0:0.0	.	.	.	.	X	317;254;317	.	ENSP00000346901:S317X	S	+	2	0	FMO1	169517863	0.017000	0.18338	0.007000	0.13788	0.111000	0.19643	2.613000	0.46351	1.512000	0.48834	0.557000	0.71058	TCA		0.428	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		35	59	0	0	0	1	0	35	59				
ITSN2	50618	broad.mit.edu	37	2	24431985	24431985	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:24431985C>G	ENST00000355123.4	-	36	5022	c.4579G>C	c.(4579-4581)Gac>Cac	p.D1527H	ITSN2_ENST00000361999.3_Missense_Mutation_p.D1500H	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1527	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAATGTTGTCTGTTCGGAGG	0.532																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4579-4581)Gac>Cac		intersectin 2							102.0	91.0	95.0					2																	24431985		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24431985C>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4579G>C	2.37:g.24431985C>G	ENSP00000347244:p.Asp1527His					ITSN2_ENST00000361999.3_Missense_Mutation_p.D1500H	p.D1527H	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			36	5022	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1527			PH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.4579G>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532426	0.64972	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.65364	-0.15;-0.15;-0.15	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.425163	0.16125	U	0.228459	T	0.72162	0.3426	L	0.36672	1.1	0.49389	D	0.999781	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.936	T	0.74639	-0.3598	10	0.62326	D	0.03	.	17.8766	0.88827	0.0:1.0:0.0:0.0	.	1500;1527	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	H	1500;1527;1500	ENSP00000354561:D1500H;ENSP00000347244:D1527H;ENSP00000370250:D1500H	ENSP00000347244:D1527H	D	-	1	0	ITSN2	24285489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.475000	0.81041	2.279000	0.76181	0.549000	0.68633	GAC		0.532	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		8	44	0	0	0	1	0	8	44				
SH3D21	79729	broad.mit.edu	37	1	36785936	36785936	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:36785936G>A	ENST00000426732.2	+	13	1609	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	SH3D21_ENST00000312808.4_Missense_Mutation_p.D204N|SH3D21_ENST00000453908.2_Missense_Mutation_p.D558N|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.D447N|EVA1B_ENST00000490466.1_5'Flank			A4FU49	SH321_HUMAN	SH3 domain containing 21	442						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AGTTAGAGGGGACAGCTCCCC	0.622																																						ENST00000453908.2																			0				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						c.(1672-1674)Gac>Aac		SH3 domain containing 21							43.0	43.0	43.0					1																	36785936		2203	4297	6500	SO:0001583	missense	79729							g.chr1:36785936G>A	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1324G>A	1.37:g.36785936G>A	ENSP00000408613:p.Asp442Asn					SH3D21_ENST00000312808.4_Missense_Mutation_p.D204N|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Missense_Mutation_p.D442N|SH3D21_ENST00000505871.1_Missense_Mutation_p.D447N	p.D558N	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN			14	1700	+			442					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	ENST00000426732.2	37	c.1672G>A		.	.	.	.	.	.	.	.	.	.	G	15.83	2.949380	0.53186	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.52983	1.05;1.58;0.64;1.58	3.5	0.517	0.17025	.	13.548700	0.00597	U	0.000360	T	0.46795	0.1411	L	0.40543	1.245	0.09310	N	1	B;P	0.51791	0.089;0.948	B;P	0.49528	0.023;0.614	T	0.33292	-0.9874	10	0.21540	T	0.41	.	6.9057	0.24307	0.3478:0.0:0.6522:0.0	.	447;442	A4FU49-3;A4FU49	.;SH321_HUMAN	N	558;442;204;447	ENSP00000403476:D558N;ENSP00000408613:D442N;ENSP00000321936:D204N;ENSP00000421294:D447N	ENSP00000321936:D204N	D	+	1	0	SH3D21	36558523	0.006000	0.16342	0.000000	0.03702	0.024000	0.10985	1.070000	0.30653	0.115000	0.18071	-0.251000	0.11542	GAC		0.622	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		23	108	0	0	0	1	0	23	108				
DSG2	1829	broad.mit.edu	37	18	29126500	29126500	+	Missense_Mutation	SNP	C	C	G	rs2848674		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:29126500C>G	ENST00000261590.8	+	15	3360	c.3151C>G	c.(3151-3153)Cta>Gta	p.L1051V	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1051					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAAAGAGTTCTAGCACCTGC	0.527																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(3151-3153)Cta>Gta		desmoglein 2							86.0	88.0	87.0					18																	29126500		2002	4166	6168	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126500C>G	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.3151C>G	18.37:g.29126500C>G	ENSP00000261590:p.Leu1051Val					RP11-75N4.2_ENST00000583706.1_RNA	p.L1051V	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3360	+			1051					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.3151C>G	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449940	0.26074	.	.	ENSG00000046604	ENST00000261590	T	0.75821	-0.97	5.13	3.19	0.36642	.	0.573128	0.15594	N	0.254270	T	0.62245	0.2412	L	0.47190	1.495	0.19775	N	0.999959	B	0.24721	0.11	B	0.16722	0.016	T	0.50206	-0.8855	10	0.33141	T	0.24	.	5.7268	0.18018	0.1683:0.6335:0.1187:0.0795	.	1051	Q14126	DSG2_HUMAN	V	1051	ENSP00000261590:L1051V	ENSP00000261590:L1051V	L	+	1	2	DSG2	27380498	0.000000	0.05858	0.452000	0.26994	0.937000	0.57800	0.010000	0.13242	1.502000	0.48669	0.655000	0.94253	CTA		0.527	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		15	79	0	0	0	1	0	15	79				
PADI4	23569	broad.mit.edu	37	1	17657605	17657605	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:17657605G>A	ENST00000375448.4	+	2	260	c.234G>A	c.(232-234)ctG>ctA	p.L78L	PADI4_ENST00000375453.1_Silent_p.L78L|AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	78					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGGTGACCCTGACGATGAAAG	0.612																																						ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(232-234)ctG>ctA		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						61.0	60.0	60.0					1																	17657605		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17657605G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.234G>A	1.37:g.17657605G>A						PADI4_ENST00000375453.1_Silent_p.L78L|AC004824.2_ENST00000602074.1_Intron	p.L78L	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	2	260	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	78					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.234G>A	CCDS180.1																																																																																				0.612	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		4	87	0	0	0	1	0	4	87				
SRPK2	6733	broad.mit.edu	37	7	104782803	104782803	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:104782803C>G	ENST00000393651.3	-	11	1282	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	SRPK2_ENST00000357311.3_Missense_Mutation_p.E388Q|SRPK2_ENST00000489828.1_Missense_Mutation_p.E388Q	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GGGCCATTCTCAATATGGCCA	0.413																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(1162-1164)Gag>Cag		SRSF protein kinase 2							189.0	179.0	182.0					7																	104782803		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104782803C>G	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1195G>C	7.37:g.104782803C>G	ENSP00000377262:p.Glu399Gln					SRPK2_ENST00000489828.1_Missense_Mutation_p.E388Q|SRPK2_ENST00000393651.3_Missense_Mutation_p.E399Q	p.E388Q	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			10	1333	-			388			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.1162G>C	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130432	0.37630	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.23552	1.9;1.9;1.9	5.63	5.63	0.86233	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.293658	0.33075	N	0.005304	T	0.16685	0.0401	N	0.17474	0.49	0.36486	D	0.868153	B;B	0.30973	0.302;0.037	B;B	0.29176	0.099;0.032	T	0.18524	-1.0334	10	0.28530	T	0.3	-18.3318	13.8968	0.63778	0.0:0.9271:0.0:0.0729	.	399;388	P78362-2;P78362	.;SRPK2_HUMAN	Q	399;388;388	ENSP00000377262:E399Q;ENSP00000349863:E388Q;ENSP00000419791:E388Q	ENSP00000349863:E388Q	E	-	1	0	SRPK2	104570039	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.837000	0.48191	2.651000	0.90000	0.561000	0.74099	GAG		0.413	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		16	71	0	0	0	1	0	16	71				
LRIT3	345193	broad.mit.edu	37	4	110791001	110791001	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:110791001G>A	ENST00000594814.1	+	4	1096	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	LRIT3_ENST00000327908.3_Missense_Mutation_p.E183K|LRIT3_ENST00000409621.2_Missense_Mutation_p.E183K|LRIT3_ENST00000379920.3_Missense_Mutation_p.E321K	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	366					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AGATCATCCTGAGTGGGATGT	0.483																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(547-549)Gag>Aag		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							222.0	205.0	211.0					4																	110791001		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791001G>A	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1096G>A	4.37:g.110791001G>A	ENSP00000469759:p.Glu366Lys					LRIT3_ENST00000379920.3_Missense_Mutation_p.E321K|LRIT3_ENST00000409621.2_Missense_Mutation_p.E183K|LRIT3_ENST00000594814.1_Missense_Mutation_p.E366K	p.E183K			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	1311	+			321			LRRCT.		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.547G>A	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	0.745	-0.775019	0.02951	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.57595	0.39;0.58;0.39	4.92	4.02	0.46733	.	2.050850	0.01662	N	0.025151	T	0.40619	0.1124	L	0.36672	1.1	0.09310	N	1	B;B	0.33583	0.294;0.418	B;B	0.27796	0.038;0.083	T	0.37502	-0.9703	10	0.06891	T	0.86	.	8.8766	0.35350	0.0976:0.2287:0.6736:0.0	.	321;183	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	K	183;321;183	ENSP00000328222:E183K;ENSP00000369252:E321K;ENSP00000386734:E183K	ENSP00000328222:E183K	E	+	1	0	LRIT3	111010450	0.001000	0.12720	0.032000	0.17829	0.147000	0.21601	1.050000	0.30404	2.259000	0.74868	0.655000	0.94253	GAG		0.483	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		26	130	0	0	0	1	0	26	130				
TCHH	7062	broad.mit.edu	37	1	152081624	152081624	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:152081624C>G	ENST00000368804.1	-	2	4068	c.4069G>C	c.(4069-4071)Gag>Cag	p.E1357Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1357	23 X 26 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)			CTGTCACGCTCTTGGCGGCGC	0.577																																						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.(4069-4071)Gag>Cag		trichohyalin							140.0	145.0	143.0					1																	152081624		1882	4104	5986	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081624C>G	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.4069G>C	1.37:g.152081624C>G	ENSP00000357794:p.Glu1357Gln						p.E1357Q	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4068	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1357			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4069G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	9.505	1.104172	0.20632	.	.	ENSG00000159450	ENST00000368804	T	0.08896	3.04	4.08	2.09	0.27110	.	.	.	.	.	T	0.08088	0.0202	M	0.63843	1.955	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	T	0.19353	-1.0308	9	0.33940	T	0.23	-5.5558	6.2816	0.21011	0.0:0.5299:0.3659:0.1042	.	1357	Q07283	TRHY_HUMAN	Q	1357	ENSP00000357794:E1357Q	ENSP00000357794:E1357Q	E	-	1	0	TCHH	150348248	0.000000	0.05858	0.000000	0.03702	0.279000	0.26890	0.109000	0.15417	0.166000	0.19597	0.205000	0.17691	GAG		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		60	256	0	0	0	1	0	60	256				
ODF3B	440836	broad.mit.edu	37	22	50969674	50969674	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr22:50969674G>A	ENST00000428989.2	-	3	363	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	TYMP_ENST00000395680.1_5'Flank|ODF3B_ENST00000329363.4_Missense_Mutation_p.R122W|ODF3B_ENST00000405135.1_Missense_Mutation_p.S137L|TYMP_ENST00000252029.3_5'Flank|ODF3B_ENST00000403326.1_Missense_Mutation_p.R54W|TYMP_ENST00000395678.3_5'Flank|TYMP_ENST00000395681.1_5'Flank|ODF3B_ENST00000401779.1_Missense_Mutation_p.S98L			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	122										lung(2)	2						ATGGTGTGCCGAGGCGCACTG	0.672																																						ENST00000329363.4																			0				lung(2)	2						c.(364-366)Cgg>Tgg		outer dense fiber of sperm tails 3B							32.0	36.0	35.0					22																	50969674		2030	4160	6190	SO:0001583	missense	440836							g.chr22:50969674G>A		CCDS43039.1	22q13.33	2008-10-24			ENSG00000177989	ENSG00000177989			34388	protein-coding gene	gene with protein product							Standard	NM_001014440		Approved		uc003bmh.2	A8MYP8	OTTHUMG00000150334	ENST00000428989.2:c.364C>T	22.37:g.50969674G>A	ENSP00000390712:p.Arg122Trp					ODF3B_ENST00000428989.2_Missense_Mutation_p.R122W|ODF3B_ENST00000405135.1_Missense_Mutation_p.S137L|ODF3B_ENST00000403326.1_Missense_Mutation_p.R54W|ODF3B_ENST00000401779.1_Missense_Mutation_p.S98L	p.R122W	NM_001014440.3	NP_001014440.2	A8MYP8	ODF3B_HUMAN			4	500	-			122					A0PK18	Missense_Mutation	SNP	ENST00000428989.2	37	c.364C>T	CCDS43039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.86|15.86	2.957376|2.957376	0.53400|0.53400	.|.	.|.	ENSG00000177989|ENSG00000177989	ENST00000329363;ENST00000403326;ENST00000428989|ENST00000401779;ENST00000405135	T;T;T|T	0.31769|0.38077	1.49;1.48;1.49|1.16	4.38|4.38	0.589|0.589	0.17452|0.17452	.|.	.|.	.|.	.|.	.|.	T|T	0.27967|0.27967	0.0689|0.0689	L|L	0.53249|0.53249	1.67|1.67	0.26149|0.26149	N|N	0.980165|0.980165	B|B	0.06786|0.17465	0.001|0.022	B|B	0.09377|0.12156	0.004|0.007	T|T	0.33445|0.33445	-0.9868|-0.9868	9|9	0.72032|0.54805	D|T	0.01|0.06	-3.1326|-3.1326	2.0223|2.0223	0.03512|0.03512	0.1216:0.1932:0.4867:0.1985|0.1216:0.1932:0.4867:0.1985	.|.	122|98	A8MYP8|B5MD02	ODF3B_HUMAN|.	W|L	122;54;122|98;137	ENSP00000382804:R122W;ENSP00000385123:R54W;ENSP00000390712:R122W|ENSP00000384012:S137L	ENSP00000382804:R122W|ENSP00000384310:S98L	R|S	-|-	1|2	2|0	ODF3B|ODF3B	49316540|49316540	0.115000|0.115000	0.22152|0.22152	0.987000|0.987000	0.45799|0.45799	0.270000|0.270000	0.26580|0.26580	1.568000|1.568000	0.36418|0.36418	0.484000|0.484000	0.27630|0.27630	-0.367000|-0.367000	0.07326|0.07326	CGG|TCG		0.672	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317626.2			11	27	0	0	0	1	0	11	27				
MARCH4	57574	broad.mit.edu	37	2	217148387	217148387	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:217148387G>C	ENST00000273067.4	-	2	2348	c.582C>G	c.(580-582)atC>atG	p.I194M		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	194						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TGATCCACTTGATGAGGCAAG	0.582																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(580-582)atC>atG		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							75.0	67.0	70.0					2																	217148387		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217148387G>C	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.582C>G	2.37:g.217148387G>C	ENSP00000273067:p.Ile194Met						p.I194M	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	2	2348	-		Renal(323;0.0854)	194					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.582C>G	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849097	0.71603	.	.	ENSG00000144583	ENST00000273067	T	0.41065	1.01	4.57	4.57	0.56435	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	N	0.26130	0.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.30268	-0.9984	10	0.30854	T	0.27	-9.5536	10.1669	0.42886	0.0906:0.0:0.9094:0.0	.	194	Q9P2E8	MARH4_HUMAN	M	194	ENSP00000273067:I194M	ENSP00000273067:I194M	I	-	3	3	MARCH4	216856632	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.403000	0.66338	2.375000	0.81037	0.462000	0.41574	ATC		0.582	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		11	54	0	0	0	1	0	11	54				
MYO9A	4649	broad.mit.edu	37	15	72143611	72143611	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr15:72143611G>A	ENST00000356056.5	-	37	7036	c.6564C>T	c.(6562-6564)ctC>ctT	p.L2188L	MYO9A_ENST00000444904.1_Silent_p.L2169L|MYO9A_ENST00000424560.1_Silent_p.L2259L|MYO9A_ENST00000564571.1_Silent_p.L2188L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2188	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGAAAGATGAGGCGTTCCA	0.383																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(6562-6564)ctC>ctT		myosin IXA							124.0	114.0	118.0					15																	72143611		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72143611G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6564C>T	15.37:g.72143611G>A						MYO9A_ENST00000444904.1_Silent_p.L2169L|MYO9A_ENST00000424560.1_Silent_p.L2259L|MYO9A_ENST00000564571.1_Silent_p.L2188L	p.L2188L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			37	7036	-			2188			Rho-GAP.|Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.6564C>T	CCDS10239.1																																																																																				0.383	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		4	28	0	0	0	1	0	4	28				
MYO16	23026	broad.mit.edu	37	13	109699313	109699313	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr13:109699313C>T	ENST00000357550.2	+	23	2821	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L	MYO16_ENST00000457511.2_Missense_Mutation_p.S439L|MYO16_ENST00000356711.2_Missense_Mutation_p.S927L|MYO16_ENST00000251041.5_Missense_Mutation_p.S927L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACTCCCTTTCACAGAATCTT	0.318																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(2779-2781)tCa>tTa		myosin XVI							119.0	123.0	122.0					13																	109699313		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109699313C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2780C>T	13.37:g.109699313C>T	ENSP00000350160:p.Ser927Leu					MYO16_ENST00000357550.2_Missense_Mutation_p.S927L|MYO16_ENST00000457511.2_Missense_Mutation_p.S439L|MYO16_ENST00000251041.5_Missense_Mutation_p.S927L	p.S927L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		24	2906	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		927			Myosin head-like 2.			Missense_Mutation	SNP	ENST00000357550.2	37	c.2780C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814879	0.90790	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.62	5.62	0.85841	Myosin head, motor domain (2);	0.000000	0.33670	U	0.004675	D	0.92264	0.7546	L	0.48642	1.525	0.58432	D	0.99999	D;D;D	0.67145	0.991;0.981;0.996	P;P;D	0.67725	0.857;0.679;0.953	D	0.90850	0.4730	9	.	.	.	.	19.0124	0.92879	0.0:1.0:0.0:0.0	.	439;927;927	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	L	927;927;927;927;715;439	ENSP00000349145:S927L;ENSP00000350160:S927L;ENSP00000251041:S927L;ENSP00000401633:S439L	.	S	+	2	0	MYO16	108497314	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.793000	0.69060	2.810000	0.96702	0.650000	0.86243	TCA		0.318	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		10	45	0	0	0	1	0	10	45				
SCYL3	57147	broad.mit.edu	37	1	169845188	169845188	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:169845188C>T	ENST00000367770.1	-	3	443	c.396G>A	c.(394-396)gtG>gtA	p.V132V	SCYL3_ENST00000367771.6_Silent_p.V132V|SCYL3_ENST00000367772.4_Silent_p.V132V|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATCTTCACTCACAAACACAG	0.443																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(394-396)gtG>gtA		SCY1-like 3 (S. cerevisiae)							136.0	124.0	128.0					1																	169845188		2203	4300	6503	SO:0001819	synonymous_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169845188C>T	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.396G>A	1.37:g.169845188C>T						SCYL3_ENST00000367771.5_Silent_p.V132V|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Silent_p.V132V	p.V132V	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			4	593	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		132			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Silent	SNP	ENST00000367770.1	37	c.396G>A	CCDS1287.1																																																																																				0.443	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		21	50	0	0	0	1	0	21	50				
TPTE	7179	broad.mit.edu	37	21	10951388	10951388	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr21:10951388G>A	ENST00000361285.4	-	10	653	c.324C>T	c.(322-324)ctC>ctT	p.L108L	TPTE_ENST00000342420.5_Silent_p.L70L|TPTE_ENST00000298232.7_Silent_p.L90L|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	108					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGGCAAGGATGAGAGTGACAT	0.333																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(268-270)ctC>ctT		transmembrane phosphatase with tensin homology							133.0	138.0	137.0					21																	10951388		2203	4300	6503	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951388G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.324C>T	21.37:g.10951388G>A						TPTE_ENST00000361285.4_Silent_p.L108L|TPTE_ENST00000342420.5_Silent_p.L70L|TPTE_ENST00000415664.2_5'UTR	p.L90L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	637	-			108					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.270C>T	CCDS13560.2																																																																																				0.333	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			17	120	0	0	0	1	0	17	120				
CD226	10666	broad.mit.edu	37	18	67562982	67562982	+	Missense_Mutation	SNP	C	C	T	rs146723371	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:67562982C>T	ENST00000280200.4	-	4	950	c.682G>A	c.(682-684)Gca>Aca	p.A228T	CD226_ENST00000581982.1_Missense_Mutation_p.A73T|CD226_ENST00000582621.1_Missense_Mutation_p.A228T|CD226_ENST00000577287.1_Missense_Mutation_p.A73T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	228	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.A228T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TTTTCTCCTGCGCTGGCCTGC	0.542													C|||	4	0.000798722	0.003	0.0	5008	,	,		18442	0.0		0.0	False		,,,				2504	0.0				NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			1	Substitution - Missense(1)	p.A228T(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(682-684)Gca>Aca		CD226 molecule		C	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	133.0	134.0	134.0		682	-0.9	0.0	18	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CD226	NM_006566.2	58	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign	228/337	67562982	5,13001	2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67562982C>T	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.682G>A	18.37:g.67562982C>T	ENSP00000280200:p.Ala228Thr					CD226_ENST00000582621.1_Missense_Mutation_p.A228T|CD226_ENST00000581982.1_Missense_Mutation_p.A73T|CD226_ENST00000577287.1_Missense_Mutation_p.A73T	p.A228T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN			4	950	-		Esophageal squamous(42;0.129)	228			Ig-like C2-type 2.		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.682G>A	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	1.448	-0.565719	0.03910	9.08E-4	1.16E-4	ENSG00000150637	ENST00000280200	T	0.12255	2.7	4.82	-0.932	0.10435	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.434279	0.24513	N	0.037863	T	0.01489	0.0048	N	0.00092	-2.175	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40776	-0.9545	10	0.02654	T	1	.	2.8128	0.05446	0.318:0.183:0.0:0.499	.	228	Q15762	CD226_HUMAN	T	228	ENSP00000280200:A228T	ENSP00000280200:A228T	A	-	1	0	CD226	65713962	0.012000	0.17670	0.001000	0.08648	0.004000	0.04260	0.019000	0.13444	-0.166000	0.10890	-0.300000	0.09419	GCA		0.542	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		5	171	0	0	0	1	0	5	171				
TMEM155	132332	broad.mit.edu	37	4	122682803	122682803	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:122682803C>G	ENST00000337677.5	-	5	660	c.102G>C	c.(100-102)caG>caC	p.Q34H	TMEM155_ENST00000394394.1_Missense_Mutation_p.Q34H|AC079341.1_ENST00000424958.1_5'Flank|TMEM155_ENST00000394396.1_Missense_Mutation_p.Q34H	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	34						extracellular region (GO:0005576)				breast(1)|lung(5)	6						CTCTCTTATTCTGTAGAATCG	0.423																																						ENST00000337677.5																			0				breast(1)|lung(5)	6						c.(100-102)caG>caC		transmembrane protein 155							74.0	74.0	74.0					4																	122682803		2203	4300	6503	SO:0001583	missense	132332					extracellular region		g.chr4:122682803C>G	AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.102G>C	4.37:g.122682803C>G	ENSP00000336987:p.Gln34His					TMEM155_ENST00000394394.1_Missense_Mutation_p.Q34H|TMEM155_ENST00000394396.1_Missense_Mutation_p.Q34H	p.Q34H	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN			5	660	-			34					D3DNW9|Q96NI2	Missense_Mutation	SNP	ENST00000337677.5	37	c.102G>C	CCDS3721.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992158	0.35131	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394;ENST00000514885	T;T;T;T	0.55760	0.62;0.62;0.62;0.5	5.23	5.23	0.72850	.	0.000000	0.40385	N	0.001113	T	0.59197	0.2176	N	0.24115	0.695	0.19575	N	0.999965	D	0.89917	1.0	D	0.74023	0.982	T	0.55283	-0.8165	10	0.87932	D	0	-5.7068	15.0198	0.71621	0.0:1.0:0.0:0.0	.	34	Q4W5P6	TM155_HUMAN	H	34	ENSP00000377919:Q34H;ENSP00000336987:Q34H;ENSP00000377917:Q34H;ENSP00000422869:Q34H	ENSP00000336987:Q34H	Q	-	3	2	TMEM155	122902253	0.954000	0.32549	0.127000	0.21898	0.990000	0.78478	1.951000	0.40333	2.824000	0.97209	0.655000	0.94253	CAG		0.423	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		10	30	0	0	0	1	0	10	30				
TCHH	7062	broad.mit.edu	37	1	152082282	152082282	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:152082282C>G	ENST00000368804.1	-	2	3410	c.3411G>C	c.(3409-3411)gaG>gaC	p.E1137D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1137	10 X 30 AA 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)			gatattgcctctccagctcct	0.607																																						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.(3409-3411)gaG>gaC		trichohyalin							91.0	90.0	90.0					1																	152082282		1998	4156	6154	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082282C>G	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.3411G>C	1.37:g.152082282C>G	ENSP00000357794:p.Glu1137Asp						p.E1137D	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3410	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1137			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3411G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	2.513	-0.312513	0.05422	.	.	ENSG00000159450	ENST00000368804	T	0.04502	3.61	3.01	-2.06	0.07298	.	.	.	.	.	T	0.00754	0.0025	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.42783	-0.9431	9	0.27785	T	0.31	-8.1053	7.3898	0.26903	0.0:0.3323:0.4543:0.2134	.	1137	Q07283	TRHY_HUMAN	D	1137	ENSP00000357794:E1137D	ENSP00000357794:E1137D	E	-	3	2	TCHH	150348906	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.240000	0.02914	-1.728000	0.01366	-2.766000	0.00121	GAG		0.607	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		23	105	0	0	0	1	0	23	105				
SPP2	6694	broad.mit.edu	37	2	234978605	234978605	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:234978605G>A	ENST00000168148.3	+	7	672	c.584G>A	c.(583-585)aGa>aAa	p.R195K	SPP2_ENST00000373368.1_Missense_Mutation_p.R195K	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	195					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CCTGGAAACAGAAGGTACCCA	0.438																																						ENST00000168148.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(583-585)aGa>aAa		secreted phosphoprotein 2, 24kDa							112.0	107.0	109.0					2																	234978605		2203	4300	6503	SO:0001583	missense	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234978605G>A		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.584G>A	2.37:g.234978605G>A	ENSP00000168148:p.Arg195Lys					SPP2_ENST00000373368.1_Missense_Mutation_p.R195K	p.R195K	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	7	672	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	195					A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	c.584G>A	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499870	0.64298	.	.	ENSG00000072080	ENST00000373368;ENST00000168148;ENST00000425558	T;T	0.58506	0.33;0.33	3.88	3.88	0.44766	.	0.186259	0.35436	N	0.003213	T	0.62539	0.2436	L	0.50333	1.59	0.09310	N	1	D	0.59767	0.986	P	0.58970	0.849	T	0.52193	-0.8608	10	0.24483	T	0.36	-6.2336	11.667	0.51379	0.0:0.0:1.0:0.0	.	195	Q13103	SPP24_HUMAN	K	195;195;115	ENSP00000362466:R195K;ENSP00000168148:R195K	ENSP00000168148:R195K	R	+	2	0	SPP2	234643344	0.959000	0.32827	0.082000	0.20525	0.060000	0.15804	3.610000	0.54125	2.467000	0.83353	0.650000	0.86243	AGA		0.438	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		12	44	0	0	0	1	0	12	44				
USP53	54532	broad.mit.edu	37	4	120194844	120194844	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:120194844G>A	ENST00000274030.6	+	17	3411	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	USP53_ENST00000450251.1_Silent_p.Q744Q	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CCTCCCTTCAGAGCCAACATC	0.323																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(2230-2232)caG>caA		ubiquitin specific peptidase 53							93.0	81.0	85.0					4																	120194844		1826	4071	5897	SO:0001819	synonymous_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120194844G>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2232G>A	4.37:g.120194844G>A						USP53_ENST00000274030.6_Silent_p.Q744Q	p.Q744Q			Q70EK8	UBP53_HUMAN			13	2776	+			744						Silent	SNP	ENST00000274030.6	37	c.2232G>A	CCDS43265.1																																																																																				0.323	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		4	28	0	0	0	1	0	4	28				
ZFP91	80829	broad.mit.edu	37	11	58384768	58384768	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:58384768C>T	ENST00000316059.6	+	11	1473	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	ZFP91-CNTF_ENST00000389919.4_Silent_p.I434I	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	434					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTTGCAATATCTGTGGCAAAA	0.458																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1300-1302)atC>atT		ZFP91 zinc finger protein							71.0	66.0	68.0					11																	58384768		2201	4295	6496	SO:0001819	synonymous_variant	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384768C>T	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1302C>T	11.37:g.58384768C>T						ZFP91-CNTF_ENST00000389919.4_Silent_p.I434I	p.I434I	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			11	1473	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	434					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Silent	SNP	ENST00000316059.6	37	c.1302C>T	CCDS31553.1																																																																																				0.458	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		14	38	0	0	0	1	0	14	38				
HUWE1	10075	broad.mit.edu	37	X	53577973	53577973	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrX:53577973C>T	ENST00000342160.3	-	64	9731	c.9274G>A	c.(9274-9276)Gag>Aag	p.E3092K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3092K|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3092					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCTTGAGCCTCAGCTGCAATG	0.562																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(9274-9276)Gag>Aag		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							85.0	66.0	73.0					X																	53577973		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53577973C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9274G>A	X.37:g.53577973C>T	ENSP00000340648:p.Glu3092Lys					HUWE1_ENST00000262854.6_Missense_Mutation_p.E3092K	p.E3092K			Q7Z6Z7	HUWE1_HUMAN			64	9731	-			3092					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9274G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427973	0.83667	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.71934	-0.61;-0.61	5.88	5.88	0.94601	.	0.062772	0.64402	D	0.000007	D	0.84220	0.5424	M	0.76727	2.345	0.80722	D	1	P;D	0.56035	0.956;0.974	D;D	0.70487	0.931;0.969	D	0.85609	0.1257	10	0.87932	D	0	.	17.8502	0.88744	0.0:1.0:0.0:0.0	.	3092;3076	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	K	3092	ENSP00000340648:E3092K;ENSP00000262854:E3092K	ENSP00000262854:E3092K	E	-	1	0	HUWE1	53594698	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.106000	0.77039	2.489000	0.83994	0.600000	0.82982	GAG		0.562	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		20	23	0	0	0	1	0	20	23				
PHF1	5252	broad.mit.edu	37	6	33383784	33383784	+	Missense_Mutation	SNP	G	G	T	rs376639282		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:33383784G>T	ENST00000374516.3	+	15	1884	c.1613G>T	c.(1612-1614)cGa>cTa	p.R538L	PHF1_ENST00000374512.3_3'UTR|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	538					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TACCTGTCCCGAGGGGACCCT	0.632																																						ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1612-1614)cGa>cTa		PHD finger protein 1							86.0	87.0	86.0					6																	33383784		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383784G>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1613G>T	6.37:g.33383784G>T	ENSP00000363640:p.Arg538Leu					PHF1_ENST00000374512.3_3'UTR	p.R538L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			15	1884	+		Ovarian(999;0.0443)	538					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.1613G>T	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350505	0.41599	.	.	ENSG00000112511	ENST00000374516;ENST00000427826	T	0.23552	1.9	4.54	3.64	0.41730	.	0.192958	0.25817	N	0.028102	T	0.06096	0.0158	N	0.22421	0.69	0.31702	N	0.640639	B	0.16802	0.019	B	0.17722	0.019	T	0.30592	-0.9973	9	.	.	.	-0.2112	10.23	0.43250	0.0:0.2012:0.7988:0.0	.	538	O43189	PHF1_HUMAN	L	538;152	ENSP00000363640:R538L	.	R	+	2	0	PHF1	33491762	0.371000	0.25056	1.000000	0.80357	0.999000	0.98932	3.419000	0.52728	1.096000	0.41439	0.655000	0.94253	CGA		0.632	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			6	153	1	0	0.00116845	1	0.00118324	6	153				
USP20	10868	broad.mit.edu	37	9	132637139	132637139	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr9:132637139G>A	ENST00000315480.4	+	19	2111	c.1953G>A	c.(1951-1953)gtG>gtA	p.V651V	USP20_ENST00000358355.1_Silent_p.V651V|USP20_ENST00000372429.3_Silent_p.V651V			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	651	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCCAGAACGTGATCAATGGGC	0.602																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1951-1953)gtG>gtA		ubiquitin specific peptidase 20							79.0	81.0	80.0					9																	132637139		2124	4225	6349	SO:0001819	synonymous_variant	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132637139G>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1953G>A	9.37:g.132637139G>A						USP20_ENST00000372429.3_Silent_p.V651V|USP20_ENST00000358355.1_Silent_p.V651V	p.V651V			Q9Y2K6	UBP20_HUMAN			19	2111	+		Ovarian(14;0.00556)	651					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	c.1953G>A	CCDS43892.1																																																																																				0.602	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			14	32	0	0	0	1	0	14	32				
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	284802							g.chr20:29628282G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	124	0	0	0	1	0	4	124				
KIDINS220	57498	broad.mit.edu	37	2	8890432	8890432	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:8890432C>G	ENST00000256707.3	-	24	3405	c.3224G>C	c.(3223-3225)gGa>gCa	p.G1075A	KIDINS220_ENST00000473731.1_Missense_Mutation_p.G1075A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G1075A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G1033A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1075					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CGCCAGTCCTCCAATACTGAT	0.532																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(3223-3225)gGa>gCa		kinase D-interacting substrate, 220kDa							35.0	38.0	37.0					2																	8890432		1951	4132	6083	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8890432C>G	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3224G>C	2.37:g.8890432C>G	ENSP00000256707:p.Gly1075Ala					KIDINS220_ENST00000473731.1_Missense_Mutation_p.G1075A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G1075A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G1033A	p.G1075A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			24	3405	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1075					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.3224G>C	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011913	0.35511	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.66815	0.93;-0.23;-0.19;-0.09;-0.19;-0.13	5.79	5.79	0.91817	.	0.053014	0.85682	D	0.000000	T	0.74935	0.3782	L	0.37561	1.115	0.80722	D	1	D;B;B;B;B	0.76494	0.999;0.009;0.05;0.145;0.05	D;B;B;B;B	0.83275	0.996;0.005;0.053;0.159;0.076	T	0.67252	-0.5717	10	0.16420	T	0.52	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	1076;1076;759;1033;1075	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	A	822;759;1075;1075;1033;1075;1076;84	ENSP00000420364:G822A;ENSP00000256707:G1075A;ENSP00000411849:G1075A;ENSP00000414923:G1033A;ENSP00000418974:G1075A;ENSP00000419964:G1076A	ENSP00000256707:G1075A	G	-	2	0	KIDINS220	8807883	1.000000	0.71417	0.741000	0.31004	0.158000	0.22134	7.487000	0.81328	2.733000	0.93635	0.655000	0.94253	GGA		0.532	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		12	34	0	0	0	1	0	12	34				
MT-ND1	4535	broad.mit.edu	37	M	3786	3786	+	Silent	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrM:3786T>C	ENST00000361390.2	+	1	480	c.480T>C	c.(478-480)ttT>ttC	p.F160F	MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TV_ENST00000387342.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-CO1_ENST00000361624.2_5'Flank			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	160					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTGGCTCCTTTAACCTCTCC	0.458																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(478-480)ttT>ttC		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001819	synonymous_variant	4535							g.chrM:3786T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.480T>C	M.37:g.3786T>C							p.160_160insF							1	480	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.480T>C																																																																																					0.458	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		15	11	0	0	0	1	0	15	11				
FLNC	2318	broad.mit.edu	37	7	128488768	128488768	+	Silent	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:128488768C>A	ENST00000325888.8	+	27	4995	c.4734C>A	c.(4732-4734)atC>atA	p.I1578I	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I1578I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1578					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGTCCAGATCTTGGTGAGTC	0.657																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(4732-4734)atC>atA		filamin C, gamma							101.0	111.0	108.0					7																	128488768		2104	4231	6335	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128488768C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4734C>A	7.37:g.128488768C>A						FLNC_ENST00000346177.6_Silent_p.I1578I	p.I1578I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			27	4995	+			1578					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.4734C>A	CCDS43644.1																																																																																				0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			8	137	1	0	0.0477658	1	0.0480058	8	137				
PTPRU	10076	broad.mit.edu	37	1	29586053	29586053	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:29586053G>A	ENST00000345512.3	+	5	781	c.652G>A	c.(652-654)Gag>Aag	p.E218K	PTPRU_ENST00000460170.2_Missense_Mutation_p.E218K|PTPRU_ENST00000323874.8_Missense_Mutation_p.E218K|PTPRU_ENST00000373779.3_Missense_Mutation_p.E218K|PTPRU_ENST00000428026.2_Missense_Mutation_p.E218K|PTPRU_ENST00000356870.3_Missense_Mutation_p.E218K	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	218	Ig-like C2-type.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CAGAGCGGCCGAGGCCGAACG	0.701																																						ENST00000373779.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(652-654)Gag>Aag		protein tyrosine phosphatase, receptor type, U							19.0	23.0	22.0					1																	29586053		2197	4290	6487	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29586053G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.652G>A	1.37:g.29586053G>A	ENSP00000334941:p.Glu218Lys					PTPRU_ENST00000460170.2_Missense_Mutation_p.E218K|PTPRU_ENST00000428026.2_Missense_Mutation_p.E218K|PTPRU_ENST00000345512.3_Missense_Mutation_p.E218K|PTPRU_ENST00000356870.3_Missense_Mutation_p.E218K|PTPRU_ENST00000323874.8_Missense_Mutation_p.E218K	p.E218K	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	5	781	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	218			Ig-like C2-type.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.652G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413584	0.42817	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	4.61	4.61	0.57282	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.152609	0.42053	U	0.000770	T	0.14917	0.0360	L	0.31294	0.92	0.38931	D	0.957947	B;B;B;B;B	0.20459	0.013;0.045;0.013;0.027;0.008	B;B;B;B;B	0.12837	0.008;0.008;0.008;0.003;0.003	T	0.09487	-1.0672	9	.	.	.	.	12.1066	0.53816	0.087:0.0:0.913:0.0	.	218;218;218;218;218	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	K	218	ENSP00000334941:E218K;ENSP00000362884:E218K;ENSP00000349333:E218K;ENSP00000314987:E218K;ENSP00000392332:E218K;ENSP00000432906:E218K	.	E	+	1	0	PTPRU	29458640	1.000000	0.71417	0.915000	0.36163	0.941000	0.58515	7.954000	0.87848	2.123000	0.65237	0.456000	0.33151	GAG		0.701	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			8	32	0	0	0	1	0	8	32				
ZDHHC16	84287	broad.mit.edu	37	10	99214507	99214507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:99214507C>T	ENST00000370854.3	+	8	964	c.775C>T	c.(775-777)Cga>Tga	p.R259*	ZDHHC16_ENST00000370842.2_Nonsense_Mutation_p.R243*|ZDHHC16_ENST00000393760.1_Nonsense_Mutation_p.R259*|ZDHHC16_ENST00000352634.4_Nonsense_Mutation_p.R243*|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000353979.3_Nonsense_Mutation_p.R220*|ZDHHC16_ENST00000345745.5_Nonsense_Mutation_p.R178*	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	259					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CTTCTCCTTTCGAGAAAGGAT	0.463																																						ENST00000393760.1																			0				kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14						c.(775-777)Cga>Tga		zinc finger, DHHC-type containing 16							157.0	149.0	152.0					10																	99214507		2203	4300	6503	SO:0001587	stop_gained	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99214507C>T	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.775C>T	10.37:g.99214507C>T	ENSP00000359891:p.Arg259*					ZDHHC16_ENST00000352634.4_Nonsense_Mutation_p.R243*|ZDHHC16_ENST00000370854.3_Nonsense_Mutation_p.R259*|ZDHHC16_ENST00000345745.5_Nonsense_Mutation_p.R178*|ZDHHC16_ENST00000370842.2_Nonsense_Mutation_p.R243*|ZDHHC16_ENST00000353979.3_Nonsense_Mutation_p.R220*|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000495735.1_3'UTR	p.R259*	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	9	1124	+		Colorectal(252;0.0846)	259					D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Nonsense_Mutation	SNP	ENST00000370854.3	37	c.775C>T	CCDS7460.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144741	0.94603	.	.	ENSG00000171307	ENST00000370854;ENST00000393760;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086	.	.	.	5.88	3.99	0.46301	.	0.206543	0.37483	N	0.002063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-12.0892	7.5567	0.27829	0.2969:0.6264:0.0:0.0767	.	.	.	.	X	259;259;243;220;243;178;194	.	ENSP00000304487:R178X	R	+	1	2	ZDHHC16	99204497	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	1.623000	0.37008	1.440000	0.47531	0.655000	0.94253	CGA		0.463	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		29	96	0	0	0	1	0	29	96				
ALOX15B	247	broad.mit.edu	37	17	7950325	7950325	+	Missense_Mutation	SNP	G	G	A	rs200138131		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:7950325G>A	ENST00000380183.4	+	10	1527	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	ALOX15B_ENST00000572022.1_Missense_Mutation_p.R463Q|ALOX15B_ENST00000380173.2_Missense_Mutation_p.R434Q|ALOX15B_ENST00000573359.1_Missense_Mutation_p.R434Q	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	463	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						ATCCGGACCCGAGGAGTTGAA	0.557																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(1387-1389)cGa>cAa		arachidonate 15-lipoxygenase, type B							95.0	88.0	91.0					17																	7950325		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7950325G>A	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1388G>A	17.37:g.7950325G>A	ENSP00000369530:p.Arg463Gln					ALOX15B_ENST00000573359.1_Missense_Mutation_p.R434Q|ALOX15B_ENST00000380173.2_Missense_Mutation_p.R434Q|ALOX15B_ENST00000572022.1_Missense_Mutation_p.R463Q	p.R463Q	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			10	1527	+			463			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.1388G>A	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661888	0.88251	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.95588	-3.75;-3.75	4.69	3.7	0.42460	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.92649	3.33	0.49582	D	0.9998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.988;0.999	D	0.98262	1.0499	10	0.87932	D	0	-7.9792	12.6953	0.56999	0.0883:0.0:0.9117:0.0	.	463;434;434;463	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	Q	434;434;463	ENSP00000369520:R434Q;ENSP00000369530:R463Q	ENSP00000344337:R434Q	R	+	2	0	ALOX15B	7891050	0.786000	0.28738	0.029000	0.17559	0.886000	0.51366	4.269000	0.58890	2.323000	0.78572	0.655000	0.94253	CGA		0.557	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			10	48	0	0	0	1	0	10	48				
SOWAHA	134548	broad.mit.edu	37	5	132150735	132150735	+	Silent	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:132150735C>A	ENST00000378693.2	+	1	1703	c.1422C>A	c.(1420-1422)tcC>tcA	p.S474S	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	474																	TCCTCAGTTCCACCACCAGTG	0.637																																						ENST00000378693.2																			0											c.(1420-1422)tcC>tcA		sosondowah ankyrin repeat domain family member A							40.0	37.0	38.0					5																	132150735		2202	4300	6502	SO:0001819	synonymous_variant	134548							g.chr5:132150735C>A	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1422C>A	5.37:g.132150735C>A							p.S474S	NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN			1	1703	+			474					Q8NAE7	Silent	SNP	ENST00000378693.2	37	c.1422C>A	CCDS43361.1																																																																																				0.637	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		11	17	1	0	9.70103e-10	1	1.03202e-09	11	17				
EPB41L3	23136	broad.mit.edu	37	18	5434087	5434087	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:5434087G>A	ENST00000341928.2	-	7	979	c.639C>T	c.(637-639)atC>atT	p.I213I	EPB41L3_ENST00000400111.3_Silent_p.I213I|EPB41L3_ENST00000342933.3_Silent_p.I213I|EPB41L3_ENST00000540638.2_Silent_p.I213I|EPB41L3_ENST00000544123.1_Silent_p.I213I|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	213	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTCCGGACACGATGTCATCTC	0.542																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(637-639)atC>atT		erythrocyte membrane protein band 4.1-like 3							95.0	78.0	84.0					18																	5434087		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5434087G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.639C>T	18.37:g.5434087G>A						EPB41L3_ENST00000544123.1_Silent_p.I213I|EPB41L3_ENST00000540638.2_Silent_p.I213I|EPB41L3_ENST00000342933.3_Silent_p.I213I|EPB41L3_ENST00000400111.3_Silent_p.I213I|EPB41L3_ENST00000542652.2_5'UTR	p.I213I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			7	979	-			213			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.639C>T	CCDS11838.1																																																																																				0.542	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		16	63	0	0	0	1	0	16	63				
SUN5	140732	broad.mit.edu	37	20	31590714	31590714	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:31590714C>T	ENST00000356173.3	-	2	181	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	SUN5_ENST00000375519.2_Missense_Mutation_p.R30Q|SUN5_ENST00000375523.3_Missense_Mutation_p.R30Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	30					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GTTCCGGCCTCGCTGGGCAAT	0.517																																						ENST00000356173.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.(88-90)cGa>cAa		Sad1 and UNC84 domain containing 5							116.0	111.0	113.0					20																	31590714		2203	4300	6503	SO:0001583	missense	140732				spermatogenesis			g.chr20:31590714C>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.89G>A	20.37:g.31590714C>T	ENSP00000348496:p.Arg30Gln					SUN5_ENST00000375523.3_Missense_Mutation_p.R30Q|SUN5_ENST00000375519.2_Missense_Mutation_p.R30Q	p.R30Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN			2	181	-			30					A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.89G>A	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471341	0.63737	.	.	ENSG00000167098	ENST00000356173;ENST00000375523;ENST00000420875;ENST00000375519	T;T;T;T	0.49139	2.18;2.03;0.79;0.9	4.01	4.01	0.46588	.	0.534875	0.15293	N	0.270056	T	0.61999	0.2392	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	D	0.70227	0.968	T	0.49986	-0.8880	10	0.30078	T	0.28	-2.5613	11.9762	0.53094	0.0:1.0:0.0:0.0	.	30	Q8TC36	SUN5_HUMAN	Q	30;30;19;30	ENSP00000348496:R30Q;ENSP00000364673:R30Q;ENSP00000400089:R19Q;ENSP00000364669:R30Q	ENSP00000348496:R30Q	R	-	2	0	SUN5	31054375	0.027000	0.19231	0.027000	0.17364	0.005000	0.04900	2.970000	0.49240	2.534000	0.85438	0.650000	0.86243	CGA		0.517	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		5	59	0	0	0	1	0	5	59				
GSS	2937	broad.mit.edu	37	20	33529623	33529623	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:33529623G>A	ENST00000216951.2	-	6	599	c.501C>T	c.(499-501)ctC>ctT	p.L167L	GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_Silent_p.L39L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	167					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCAGGACACTGAGAACATGTC	0.502																																						ENST00000216951.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(499-501)ctC>ctT		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						100.0	89.0	92.0					20																	33529623		2203	4300	6503	SO:0001819	synonymous_variant	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33529623G>A		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.501C>T	20.37:g.33529623G>A						GSS_ENST00000541098.1_Silent_p.L39L|GSS_ENST00000451957.2_Intron	p.L167L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		6	599	-			167					B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	ENST00000216951.2	37	c.501C>T	CCDS13245.1																																																																																				0.502	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			13	44	0	0	0	1	0	13	44				
ACTR5	79913	broad.mit.edu	37	20	37380805	37380805	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:37380805C>G	ENST00000243903.4	+	3	674	c.637C>G	c.(637-639)Ctt>Gtt	p.L213V		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	213					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GCGCATCAATCTTGGAGGAAG	0.498																																						ENST00000243903.4																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(637-639)Ctt>Gtt		ARP5 actin-related protein 5 homolog (yeast)							59.0	56.0	57.0					20																	37380805		2203	4300	6503	SO:0001583	missense	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37380805C>G	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.637C>G	20.37:g.37380805C>G	ENSP00000243903:p.Leu213Val						p.L213V	NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN			3	674	+		Myeloproliferative disorder(115;0.00878)	213					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	c.637C>G	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639144	0.29157	.	.	ENSG00000101442	ENST00000243903	D	0.95171	-3.63	5.62	4.67	0.58626	.	0.258595	0.40640	N	0.001053	D	0.89497	0.6732	L	0.42008	1.315	0.46376	D	0.999014	B	0.25272	0.122	B	0.27380	0.079	T	0.82701	-0.0327	10	0.06757	T	0.87	-17.7369	9.8046	0.40786	0.1387:0.7909:0.0:0.0703	.	213	Q9H9F9	ARP5_HUMAN	V	213	ENSP00000243903:L213V	ENSP00000243903:L213V	L	+	1	0	ACTR5	36814219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.781000	0.38644	1.513000	0.48852	0.561000	0.74099	CTT		0.498	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		12	35	0	0	0	1	0	12	35				
NADSYN1	55191	broad.mit.edu	37	11	71185569	71185569	+	Silent	SNP	C	C	T	rs370965046		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:71185569C>T	ENST00000319023.2	+	9	983	c.795C>T	c.(793-795)gaC>gaT	p.D265D	NADSYN1_ENST00000539574.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	265	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CTCTGGATGACGTGGTAATGA	0.597																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(793-795)gaC>gaT		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C		1,4399	2.1+/-5.4	0,1,2199	139.0	128.0	132.0		795	-3.2	0.4	11		132	0,8588		0,0,4294	no	coding-synonymous	NADSYN1	NM_018161.4		0,1,6493	TT,TC,CC		0.0,0.0227,0.0077		265/707	71185569	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71185569C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.795C>T	11.37:g.71185569C>T							p.D265D	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			9	983	+			265			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.795C>T	CCDS8201.1																																																																																				0.597	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		21	84	0	0	0	1	0	21	84				
WDR60	55112	broad.mit.edu	37	7	158716345	158716345	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:158716345G>C	ENST00000407559.3	+	17	2336	c.2178G>C	c.(2176-2178)ttG>ttC	p.L726F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	726					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCTGGGATTTGAGAGAAGACT	0.532																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(2176-2178)ttG>ttC		WD repeat domain 60							153.0	158.0	156.0					7																	158716345		2167	4275	6442	SO:0001583	missense	55112							g.chr7:158716345G>C		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2178G>C	7.37:g.158716345G>C	ENSP00000384290:p.Leu726Phe						p.L726F	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	17	2336	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	726					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.2178G>C	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	2.906	-0.226381	0.06022	.	.	ENSG00000126870	ENST00000407559	T	0.70516	-0.49	5.18	-4.13	0.03904	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000012	T	0.79776	0.4504	M	0.86420	2.815	0.49687	D	0.999813	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.916	T	0.75673	-0.3236	10	0.72032	D	0.01	-13.0776	5.1699	0.15105	0.2303:0.1219:0.5282:0.1196	.	209;726	A4D230;Q8WVS4	.;WDR60_HUMAN	F	726	ENSP00000384290:L726F	ENSP00000384290:L726F	L	+	3	2	WDR60	158409106	0.109000	0.22037	0.070000	0.20053	0.147000	0.21601	-0.233000	0.09041	-1.121000	0.02949	-0.355000	0.07637	TTG		0.532	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		35	112	0	0	0	1	0	35	112				
FAM83C	128876	broad.mit.edu	37	20	33875192	33875192	+	Missense_Mutation	SNP	G	G	A	rs376562401		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:33875192G>A	ENST00000374408.3	-	4	1486	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	464								p.R464W(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTGGGAACCGGGACAGAGCT	0.632																																						ENST00000374408.3																			1	Substitution - Missense(1)	p.R464W(1)	endometrium(1)	central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1390-1392)Cgg>Tgg		family with sequence similarity 83, member C		G	TRP/ARG	0,4398		0,0,2199	23.0	24.0	24.0		1390	1.4	0.6	20		24	1,8593		0,1,4296	no	missense	FAM83C	NM_178468.4	101	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	464/748	33875192	1,12991	2199	4297	6496	SO:0001583	missense	128876							g.chr20:33875192G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1390C>T	20.37:g.33875192G>A	ENSP00000363529:p.Arg464Trp						p.R464W	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1486	-			464					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1390C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881276	0.33255	0.0	1.16E-4	ENSG00000125998	ENST00000374408	T	0.15139	2.45	4.81	1.44	0.22558	.	1.324700	0.05579	N	0.572544	T	0.22322	0.0538	M	0.64997	1.995	0.09310	N	0.999999	D	0.61697	0.99	P	0.44477	0.451	T	0.28776	-1.0033	10	0.87932	D	0	-26.4582	7.1281	0.25484	0.0:0.1695:0.4815:0.349	.	464	Q9BQN1	FA83C_HUMAN	W	464	ENSP00000363529:R464W	ENSP00000363529:R464W	R	-	1	2	FAM83C	33338606	0.170000	0.23016	0.640000	0.29408	0.123000	0.20343	0.330000	0.19715	0.534000	0.28695	0.561000	0.74099	CGG		0.632	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			11	35	0	0	0	1	0	11	35				
TP53BP1	7158	broad.mit.edu	37	15	43748812	43748812	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr15:43748812G>A	ENST00000263801.3	-	12	2231	c.1979C>T	c.(1978-1980)tCa>tTa	p.S660L	TP53BP1_ENST00000382044.4_Missense_Mutation_p.S665L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S665L|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S665L|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	660					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTCAGACCCTGAAGACCCCTC	0.473								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(1978-1980)tCa>tTa	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							92.0	98.0	96.0					15																	43748812		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748812G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1979C>T	15.37:g.43748812G>A	ENSP00000263801:p.Ser660Leu					TP53BP1_ENST00000382039.3_Missense_Mutation_p.S665L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S665L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S665L	p.S660L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	2231	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	660					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.1979C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451474	0.43531	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	4.82	3.91	0.45181	.	0.556047	0.16414	N	0.215474	T	0.35364	0.0929	L	0.27053	0.805	0.40371	D	0.979346	P;P;P;P	0.39391	0.671;0.473;0.607;0.607	B;B;B;B	0.34652	0.187;0.081;0.168;0.168	T	0.08932	-1.0698	10	0.22706	T	0.39	-1.3288	10.5778	0.45238	0.0905:0.0:0.9095:0.0	.	665;660;665;665	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	L	660;665;665;665;665	ENSP00000263801:S660L;ENSP00000371475:S665L;ENSP00000371470:S665L;ENSP00000393497:S665L;ENSP00000388028:S665L	ENSP00000263801:S660L	S	-	2	0	TP53BP1	41536104	0.966000	0.33281	0.997000	0.53966	0.965000	0.64279	1.608000	0.36847	1.142000	0.42291	0.563000	0.77884	TCA		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			30	108	0	0	0	1	0	30	108				
MYH3	4621	broad.mit.edu	37	17	10541414	10541414	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:10541414G>C	ENST00000583535.1	-	27	3762	c.3675C>G	c.(3673-3675)ttC>ttG	p.F1225L	MYH3_ENST00000226209.7_Missense_Mutation_p.F1225L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1225					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTCCAGCTTGAACTCGCTCT	0.572																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(3673-3675)ttC>ttG		myosin, heavy chain 3, skeletal muscle, embryonic							110.0	97.0	101.0					17																	10541414		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10541414G>C		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3675C>G	17.37:g.10541414G>C	ENSP00000464317:p.Phe1225Leu					MYH3_ENST00000226209.7_Missense_Mutation_p.F1225L	p.F1225L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			27	3762	-			1225					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.3675C>G	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	6.121	0.390527	0.11581	.	.	ENSG00000109063	ENST00000226209	T	0.74632	-0.86	5.34	-2.47	0.06442	Myosin tail (1);	.	.	.	.	T	0.33876	0.0878	N	0.00201	-1.865	0.29256	N	0.871648	B	0.02656	0.0	B	0.04013	0.001	T	0.44605	-0.9317	9	0.02654	T	1	.	16.697	0.85338	0.0634:0.6341:0.3025:0.0	.	1225	P11055	MYH3_HUMAN	L	1225	ENSP00000226209:F1225L	ENSP00000226209:F1225L	F	-	3	2	MYH3	10482139	0.019000	0.18553	0.993000	0.49108	0.995000	0.86356	-0.278000	0.08490	-0.182000	0.10602	0.655000	0.94253	TTC		0.572	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		31	95	0	0	0	1	0	31	95				
DNAJC13	23317	broad.mit.edu	37	3	132222099	132222099	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:132222099G>A	ENST00000260818.6	+	41	5006	c.4758G>A	c.(4756-4758)ctG>ctA	p.L1586L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1586					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCCATGCTCTGAGTCGCCTTG	0.403																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(4756-4758)ctG>ctA		DnaJ (Hsp40) homolog, subfamily C, member 13							79.0	77.0	77.0					3																	132222099		2203	4300	6503	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132222099G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4758G>A	3.37:g.132222099G>A							p.L1586L	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			41	5006	+			1586					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.4758G>A	CCDS33857.1																																																																																				0.403	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		9	78	0	0	0	1	0	9	78				
WIZ	58525	broad.mit.edu	37	19	15533892	15533892	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:15533892G>C	ENST00000389282.4	-	10	5164	c.4951C>G	c.(4951-4953)Ccc>Gcc	p.P1651A	WIZ_ENST00000599910.2_Missense_Mutation_p.P968A|WIZ_ENST00000599686.3_Missense_Mutation_p.P835A|WIZ_ENST00000263381.7_Missense_Mutation_p.P794A|WIZ_ENST00000545156.1_Missense_Mutation_p.P965A			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1651					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TTGTGTTAGGGAGCCTCTGCC	0.582																																						ENST00000389282.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(4951-4953)Ccc>Gcc		widely interspaced zinc finger motifs							34.0	41.0	39.0					19																	15533892		1977	4152	6129	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15533892G>C	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4951C>G	19.37:g.15533892G>C	ENSP00000373933:p.Pro1651Ala					WIZ_ENST00000545156.1_Missense_Mutation_p.P965A|WIZ_ENST00000263381.6_Missense_Mutation_p.P794A|WIZ_ENST00000599910.1_Missense_Mutation_p.P968A|WIZ_ENST00000599686.2_Missense_Mutation_p.P835A	p.P1651A			O95785	WIZ_HUMAN			10	5164	-			1651					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.4951C>G		.	.	.	.	.	.	.	.	.	.	G	14.08	2.429975	0.43122	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T	0.03635	3.86	4.98	4.98	0.66077	.	0.697477	0.12568	N	0.457534	T	0.05135	0.0137	.	.	.	0.27880	N	0.939723	B;B;B	0.17038	0.012;0.02;0.012	B;B;B	0.16289	0.007;0.015;0.004	T	0.18335	-1.0340	9	0.87932	D	0	.	15.529	0.75936	0.0:0.0:1.0:0.0	.	1651;794;835	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	A	1651;794;835;965	ENSP00000373933:P1651A	ENSP00000263381:P794A	P	-	1	0	WIZ	15394892	1.000000	0.71417	0.986000	0.45419	0.983000	0.72400	4.067000	0.57527	2.479000	0.83701	0.563000	0.77884	CCC		0.582	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		12	44	0	0	0	1	0	12	44				
SAMD7	344658	broad.mit.edu	37	3	169644487	169644487	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:169644487C>T	ENST00000428432.2	+	6	826	c.437C>T	c.(436-438)cCt>cTt	p.P146L	SAMD7_ENST00000335556.3_Missense_Mutation_p.P146L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	146										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGCATGCTCCCTGCCGGTGAC	0.577																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(436-438)cCt>cTt		sterile alpha motif domain containing 7							53.0	56.0	55.0					3																	169644487		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169644487C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.437C>T	3.37:g.169644487C>T	ENSP00000391299:p.Pro146Leu					SAMD7_ENST00000335556.3_Missense_Mutation_p.P146L	p.P146L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	826	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		146						Missense_Mutation	SNP	ENST00000428432.2	37	c.437C>T	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129219	0.56721	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.57595	0.39;0.39	6.16	5.29	0.74685	.	0.219593	0.47852	N	0.000217	T	0.51312	0.1667	M	0.66939	2.045	0.58432	D	0.999993	P	0.35050	0.482	B	0.30029	0.11	T	0.57236	-0.7846	10	0.87932	D	0	-12.8795	14.9655	0.71188	0.0:0.9316:0.0:0.0684	.	146	Q7Z3H4	SAMD7_HUMAN	L	146	ENSP00000391299:P146L;ENSP00000334668:P146L	ENSP00000334668:P146L	P	+	2	0	SAMD7	171127181	0.875000	0.30112	0.838000	0.33150	0.041000	0.13682	2.931000	0.48932	1.616000	0.50265	0.650000	0.86243	CCT		0.577	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		28	130	0	0	0	1	0	28	130				
XKR9	389668	broad.mit.edu	37	8	71619234	71619234	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr8:71619234C>T	ENST00000408926.3	+	4	873	c.339C>T	c.(337-339)ttC>ttT	p.F113F	XKR9_ENST00000520030.1_Silent_p.F113F|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	113						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTAGTAACTTCGTGGAAGAAC	0.358																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(337-339)ttC>ttT		XK, Kell blood group complex subunit-related family, member 9							83.0	83.0	83.0					8																	71619234		2203	4300	6503	SO:0001819	synonymous_variant	389668					integral to membrane		g.chr8:71619234C>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.339C>T	8.37:g.71619234C>T						XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Silent_p.F113F	p.F113F	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		4	873	+	Breast(64;0.0716)		113					B2RNS9|B9EH74	Silent	SNP	ENST00000408926.3	37	c.339C>T	CCDS34905.1																																																																																				0.358	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		4	41	0	0	0	1	0	4	41				
HHATL	57467	broad.mit.edu	37	3	42740209	42740209	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:42740209G>A	ENST00000441594.1	-	5	735	c.474C>T	c.(472-474)atC>atT	p.I158I	HHATL_ENST00000310417.5_Silent_p.I158I	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	158					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CCTGCCAAGAGATTAGGGGGT	0.567																																						ENST00000441594.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19						c.(472-474)atC>atT		hedgehog acyltransferase-like							80.0	89.0	86.0					3																	42740209		2203	4300	6503	SO:0001819	synonymous_variant	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42740209G>A	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.474C>T	3.37:g.42740209G>A						HHATL_ENST00000310417.5_Silent_p.I158I	p.I158I	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	5	735	-			158					Q8TBG3|Q9ULP7	Silent	SNP	ENST00000441594.1	37	c.474C>T	CCDS2704.1																																																																																				0.567	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		12	161	0	0	0	1	0	12	161				
ITGAX	3687	broad.mit.edu	37	16	31382953	31382953	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr16:31382953G>A	ENST00000268296.4	+	17	2129	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	ITGAX_ENST00000562522.1_Missense_Mutation_p.D670N	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	670					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCTACAGGTGACCTCCAAAG	0.632																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(2008-2010)Gac>Aac		integrin, alpha X (complement component 3 receptor 4 subunit)							73.0	71.0	72.0					16																	31382953		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382953G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2008G>A	16.37:g.31382953G>A	ENSP00000268296:p.Asp670Asn					ITGAX_ENST00000562522.1_Missense_Mutation_p.D670N	p.D670N	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			17	2129	+			670					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2008G>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	8.987	0.976812	0.18812	.	.	ENSG00000140678	ENST00000268296	T	0.45668	0.89	5.4	-3.76	0.04359	Integrin alpha-2 (1);	.	.	.	.	T	0.31358	0.0794	L	0.41906	1.305	0.09310	N	1	B	0.26195	0.144	B	0.24974	0.057	T	0.22730	-1.0208	9	0.46703	T	0.11	.	11.0686	0.47989	0.5434:0.0:0.4566:0.0	.	670	P20702	ITAX_HUMAN	N	670	ENSP00000268296:D670N	ENSP00000268296:D670N	D	+	1	0	ITGAX	31290454	0.017000	0.18338	0.000000	0.03702	0.005000	0.04900	-1.204000	0.03017	-0.945000	0.03681	0.655000	0.94253	GAC		0.632	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		28	60	0	0	0	1	0	28	60				
SLC26A1	10861	broad.mit.edu	37	4	985254	985254	+	Missense_Mutation	SNP	C	C	T	rs374288131		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:985254C>T	ENST00000361661.2	-	3	615	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G80S|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G80S|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	80					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGATGATGCCGATGACCAGC	0.652																																						ENST00000361661.2																			0				central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8						c.(238-240)Ggc>Agc		solute carrier family 26 (anion exchanger), member 1		C	,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	76.0	69.0	71.0		,238,238,238	5.1	1.0	4		71	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	IDUA,SLC26A1	NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2	,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,probably-damaging,probably-damaging	,80/702,80/225,80/702	985254	1,13005	2203	4300	6503	SO:0001583	missense	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:985254C>T	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.238G>A	4.37:g.985254C>T	ENSP00000354721:p.Gly80Ser					IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G80S|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G80S	p.G80S	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		3	615	-			80					A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	c.238G>A	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369918	0.82573	0.0	1.16E-4	ENSG00000145217	ENST00000398520;ENST00000361661;ENST00000398516	D;D;D	0.91945	-2.94;-2.94;-2.94	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.95204	0.8445	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.87578	0.998;0.902	D	0.95650	0.8706	10	0.87932	D	0	.	16.0755	0.80965	0.0:1.0:0.0:0.0	.	80;80	Q9H2B4;Q96BK0	S26A1_HUMAN;.	S	80	ENSP00000381532:G80S;ENSP00000354721:G80S;ENSP00000381528:G80S	ENSP00000354721:G80S	G	-	1	0	SLC26A1	975254	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	5.955000	0.70306	2.380000	0.81148	0.313000	0.20887	GGC		0.652	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		35	112	0	0	0	1	0	35	112				
ANKRD23	200539	broad.mit.edu	37	2	97507919	97507919	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:97507919C>G	ENST00000318357.4	-	3	219	c.178G>C	c.(178-180)Gaa>Caa	p.E60Q	ANKRD23_ENST00000418232.1_Missense_Mutation_p.E60Q|ANKRD23_ENST00000476975.1_5'Flank|ANKRD23_ENST00000331001.2_Missense_Mutation_p.E60Q	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	60					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TTAAATCTTTCAAGCTGGGGC	0.532																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(178-180)Gaa>Caa		ankyrin repeat domain 23							62.0	68.0	66.0					2																	97507919		2203	4300	6503	SO:0001583	missense	200539					nucleus		g.chr2:97507919C>G		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.178G>C	2.37:g.97507919C>G	ENSP00000321679:p.Glu60Gln					ANKRD23_ENST00000331001.2_Missense_Mutation_p.E60Q|ANKRD23_ENST00000418232.1_Missense_Mutation_p.E60Q	p.E60Q	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			3	219	-			60					Q711K7|Q8NAJ7	Missense_Mutation	SNP	ENST00000318357.4	37	c.178G>C	CCDS2027.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500809	0.26861	.	.	ENSG00000163126	ENST00000318357;ENST00000418232;ENST00000331001	T;T;T	0.69175	-0.38;-0.38;-0.27	4.53	4.53	0.55603	.	0.000000	0.40144	N	0.001169	T	0.53142	0.1778	L	0.34521	1.04	0.80722	D	1	B;B	0.32653	0.06;0.379	B;B	0.26517	0.046;0.07	T	0.59348	-0.7471	10	0.62326	D	0.03	-21.4918	12.6889	0.56964	0.0:1.0:0.0:0.0	.	60;60	Q86SG2-2;Q86SG2	.;ANR23_HUMAN	Q	60	ENSP00000321679:E60Q;ENSP00000398987:E60Q;ENSP00000333108:E60Q	ENSP00000321679:E60Q	E	-	1	0	ANKRD23	96871646	0.994000	0.37717	0.996000	0.52242	0.269000	0.26545	1.896000	0.39789	2.369000	0.80426	0.555000	0.69702	GAA		0.532	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		20	81	0	0	0	1	0	20	81				
COL6A2	1292	broad.mit.edu	37	21	47532053	47532053	+	Silent	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr21:47532053G>C	ENST00000300527.4	+	3	380	c.276G>C	c.(274-276)ctG>ctC	p.L92L	COL6A2_ENST00000357838.4_Silent_p.L92L|COL6A2_ENST00000397763.1_Silent_p.L92L|COL6A2_ENST00000310645.5_Silent_p.L92L|COL6A2_ENST00000409416.1_Silent_p.L92L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	92	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGGTGGCGCTGAGCTGGCGCT	0.622																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(274-276)ctG>ctC		collagen, type VI, alpha 2							65.0	51.0	56.0					21																	47532053		2203	4300	6503	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532053G>C	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.276G>C	21.37:g.47532053G>C						COL6A2_ENST00000310645.5_Silent_p.L92L|COL6A2_ENST00000409416.1_Silent_p.L92L|COL6A2_ENST00000357838.4_Silent_p.L92L|COL6A2_ENST00000397763.1_Silent_p.L92L	p.L92L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	380	+	Breast(49;0.245)		92			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.276G>C	CCDS13728.1																																																																																				0.622	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			14	62	0	0	0	1	0	14	62				
SDF4	51150	broad.mit.edu	37	1	1158658	1158658	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:1158658G>C	ENST00000360001.6	-	4	805	c.543C>G	c.(541-543)atC>atG	p.I181M	SDF4_ENST00000545427.1_Missense_Mutation_p.I181M|SDF4_ENST00000263741.7_Missense_Mutation_p.I181M			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	181					calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CGTTGAGCCTGATGGCGTCGG	0.557																																						ENST00000263741.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(541-543)atC>atG		stromal cell derived factor 4							294.0	249.0	264.0					1																	1158658		2203	4300	6503	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1158658G>C		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.543C>G	1.37:g.1158658G>C	ENSP00000353094:p.Ile181Met					SDF4_ENST00000360001.6_Missense_Mutation_p.I181M|SDF4_ENST00000545427.1_Missense_Mutation_p.I181M	p.I181M	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	4	835	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	181					B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.543C>G	CCDS30553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.13|11.13	1.549247|1.549247	0.27652|0.27652	.|.	.|.	ENSG00000078808|ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000545427|ENST00000403997	T;T;T|.	0.09538|.	2.97;2.97;2.97|.	4.59|4.59	-2.5|-2.5	0.06384|0.06384	.|.	0.169385|.	0.50627|.	N|.	0.000113|.	T|T	0.49490|0.49490	0.1560|0.1560	L|L	0.48642|0.48642	1.525|1.525	0.46185|0.46185	D|D	0.998917|0.998917	P;D;P|.	0.56521|.	0.893;0.976;0.593|.	B;P;B|.	0.55345|.	0.406;0.774;0.283|.	T|T	0.43393|0.43393	-0.9394|-0.9394	10|5	0.48119|.	T|.	0.1|.	-19.3833|-19.3833	5.1499|5.1499	0.15004|0.15004	0.094:0.1845:0.562:0.1596|0.094:0.1845:0.562:0.1596	.|.	115;181;181|.	B1AME7;Q9BRK5-6;Q9BRK5|.	.;.;CAB45_HUMAN|.	M|E	181|116	ENSP00000353094:I181M;ENSP00000263741:I181M;ENSP00000444451:I181M|.	ENSP00000263741:I181M|.	I|Q	-|-	3|1	3|0	SDF4|SDF4	1148521|1148521	0.618000|0.618000	0.27051|0.27051	0.008000|0.008000	0.14137|0.14137	0.007000|0.007000	0.05969|0.05969	-0.573000|-0.573000	0.05874|0.05874	-0.355000|-0.355000	0.08199|0.08199	0.543000|0.543000	0.68304|0.68304	ATC|CAG		0.557	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		28	75	0	0	0	1	0	28	75				
ZNF234	10780	broad.mit.edu	37	19	44660827	44660827	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:44660827C>G	ENST00000426739.2	+	6	916	c.658C>G	c.(658-660)Caa>Gaa	p.Q220E	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q220E	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CTCACATCTTCAAACTCATCA	0.408																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(658-660)Caa>Gaa		zinc finger protein 234							135.0	137.0	136.0					19																	44660827		2203	4300	6503	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44660827C>G	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.658C>G	19.37:g.44660827C>G	ENSP00000400878:p.Gln220Glu					ZNF234_ENST00000592437.1_Missense_Mutation_p.Q220E	p.Q220E	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	916	+		Prostate(69;0.0435)	220					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.658C>G	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	9.688	1.151208	0.21371	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.11821	2.74	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	L	0.28458	0.855	0.09310	N	1	B	0.19073	0.033	B	0.22753	0.041	T	0.30149	-0.9988	9	0.12430	T	0.62	.	9.6196	0.39712	0.3276:0.6724:0.0:0.0	.	220	Q14588	ZN234_HUMAN	E	220;49	ENSP00000400878:Q220E	ENSP00000400878:Q220E	Q	+	1	0	ZNF226	49352667	0.033000	0.19621	0.084000	0.20598	0.974000	0.67602	1.119000	0.31258	2.279000	0.76181	0.586000	0.80456	CAA		0.408	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			51	155	0	0	0	1	0	51	155				
ANK1	286	broad.mit.edu	37	8	41557008	41557008	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr8:41557008C>T	ENST00000347528.4	-	23	2603	c.2520G>A	c.(2518-2520)gaG>gaA	p.E840E	ANK1_ENST00000379758.2_Silent_p.E840E|ANK1_ENST00000265709.8_Silent_p.E881E|ANK1_ENST00000289734.7_Silent_p.E840E|ANK1_ENST00000352337.4_Silent_p.E840E|ANK1_ENST00000396942.1_Silent_p.E840E|ANK1_ENST00000396945.1_Silent_p.E840E	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	840					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGCTCCTTCTCTTCATCAA	0.577																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2518-2520)gaG>gaA		ankyrin 1, erythrocytic							131.0	122.0	125.0					8																	41557008		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41557008C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2520G>A	8.37:g.41557008C>T						ANK1_ENST00000396945.1_Silent_p.E840E|ANK1_ENST00000289734.7_Silent_p.E840E|ANK1_ENST00000265709.8_Silent_p.E881E|ANK1_ENST00000379758.2_Silent_p.E840E|ANK1_ENST00000352337.4_Silent_p.E840E|ANK1_ENST00000347528.4_Silent_p.E840E	p.E840E			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		23	2603	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	840					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2520G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	1.674	-0.508321	0.04231	.	.	ENSG00000029534	ENST00000520299	T	0.65916	-0.18	5.49	3.66	0.41972	.	0.113092	0.64402	D	0.000014	T	0.50854	0.1640	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32188	-0.9916	7	0.15952	T	0.53	.	6.2555	0.20872	0.0:0.6807:0.1528:0.1665	.	.	.	.	K	162	ENSP00000430174:E162K	ENSP00000430174:E162K	E	-	1	0	ANK1	41676165	0.984000	0.35163	0.976000	0.42696	0.140000	0.21249	0.296000	0.19083	0.655000	0.30866	0.655000	0.94253	GAA		0.577	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		14	80	0	0	0	1	0	14	80				
QSOX2	169714	broad.mit.edu	37	9	139110561	139110561	+	Silent	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr9:139110561C>A	ENST00000358701.5	-	8	1087	c.1050G>T	c.(1048-1050)ctG>ctT	p.L350L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	350					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TGAGCGTCTTCAGCTCTGCTC	0.612																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1048-1050)ctG>ctT		quiescin Q6 sulfhydryl oxidase 2							77.0	61.0	66.0					9																	139110561		2203	4300	6503	SO:0001819	synonymous_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139110561C>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1050G>T	9.37:g.139110561C>A							p.L350L	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	8	1087	-		Myeloproliferative disorder(178;0.0511)	350					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Silent	SNP	ENST00000358701.5	37	c.1050G>T	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	C	1.016	-0.686430	0.03328	.	.	ENSG00000165661	ENST00000455222	.	.	.	4.86	-3.46	0.04767	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.1265	7.7711	0.29008	0.0:0.2892:0.1206:0.5902	.	.	.	.	X	118	.	.	E	-	1	0	QSOX2	138250382	0.000000	0.05858	0.006000	0.13384	0.324000	0.28378	-3.890000	0.00341	-0.875000	0.04022	-0.436000	0.05848	GAA		0.612	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		7	49	1	0	7.48243e-07	1	7.7942e-07	7	49				
HOMER2	9455	broad.mit.edu	37	15	83561458	83561458	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr15:83561458G>A	ENST00000304231.8	-	2	333	c.141C>T	c.(139-141)atC>atT	p.I47I	HOMER2_ENST00000450735.2_Silent_p.I47I|HOMER2_ENST00000399166.2_Silent_p.I47I|HOMER2_ENST00000426485.1_Silent_p.I47I	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	47	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						CCACACTGATGATCCGATAGC	0.498																																						ENST00000304231.8																			0				cervix(1)|endometrium(2)|lung(6)	9						c.(139-141)atC>atT		homer homolog 2 (Drosophila)							198.0	198.0	198.0					15																	83561458		1990	4171	6161	SO:0001819	synonymous_variant	9455				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83561458G>A	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.141C>T	15.37:g.83561458G>A						HOMER2_ENST00000450735.2_Silent_p.I47I|HOMER2_ENST00000426485.1_Silent_p.I47I|HOMER2_ENST00000399166.2_Silent_p.I47I	p.I47I	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN			2	333	-			47			WH1.		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Silent	SNP	ENST00000304231.8	37	c.141C>T	CCDS45334.1																																																																																				0.498	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			36	157	0	0	0	1	0	36	157				
GANAB	23193	broad.mit.edu	37	11	62400964	62400964	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:62400964C>T	ENST00000356638.3	-	6	599	c.583G>A	c.(583-585)Gag>Aag	p.E195K	GANAB_ENST00000540933.1_Missense_Mutation_p.E98K|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000346178.4_Missense_Mutation_p.E217K|GANAB_ENST00000534779.1_Missense_Mutation_p.E103K	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	195					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CCATCGCCCTCAGCTGGGTCT	0.627																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(649-651)Gag>Aag		glucosidase, alpha; neutral AB							84.0	78.0	80.0					11																	62400964		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400964C>T	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.583G>A	11.37:g.62400964C>T	ENSP00000349053:p.Glu195Lys					GANAB_ENST00000540933.1_Missense_Mutation_p.E98K|GANAB_ENST00000534779.1_Missense_Mutation_p.E103K|GANAB_ENST00000356638.3_Missense_Mutation_p.E195K|GANAB_ENST00000534422.1_5'UTR	p.E217K	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			7	664	-			195					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.649G>A	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967821	0.53507	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933;ENST00000525994	D;D;D;D;T	0.88664	-2.31;-2.33;-2.41;-2.36;1.21	5.33	5.33	0.75918	Glycoside hydrolase-type carbohydrate-binding (1);	0.836000	0.10426	N	0.676119	T	0.80347	0.4606	N	0.08118	0	0.50313	D	0.99986	B;B;B;B	0.23058	0.021;0.02;0.021;0.079	B;B;B;B	0.16722	0.009;0.007;0.015;0.016	T	0.71859	-0.4465	10	0.52906	T	0.07	-31.8635	14.4067	0.67088	0.0:1.0:0.0:0.0	.	81;103;195;217	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	K	217;195;103;98;103	ENSP00000340466:E217K;ENSP00000349053:E195K;ENSP00000435306:E103K;ENSP00000442962:E98K;ENSP00000434805:E103K	ENSP00000340466:E217K	E	-	1	0	GANAB	62157540	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.347000	0.52200	2.771000	0.95319	0.563000	0.77884	GAG		0.627	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		19	75	0	0	0	1	0	19	75				
KATNAL2	83473	broad.mit.edu	37	18	44625615	44625615	+	Splice_Site	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:44625615G>A	ENST00000245121.5	+	13	1191	c.997G>A	c.(997-999)Gag>Aag	p.E333K	KATNAL2_ENST00000356157.7_Splice_Site_p.E405K	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGATTTCAGGGAGCTGGACTG	0.532																																						ENST00000245121.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						c.e13-1		katanin p60 subunit A-like 2							87.0	83.0	84.0					18																	44625615		2203	4300	6503	SO:0001630	splice_region_variant	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44625615G>A	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.996-1G>A	18.37:g.44625615G>A						KATNAL2_ENST00000356157.7_Splice_Site_p.E405_splice	p.E333_splice	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN			13	1191	+			405						Splice_Site	SNP	ENST00000245121.5	37	c.995_splice	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329527	0.95733	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.92545	-3.06;-3.06	4.75	4.75	0.60458	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.91613	0.7350	N	0.13003	0.285	0.80722	D	1	D	0.57257	0.979	P	0.62298	0.9	D	0.93474	0.6821	10	0.66056	D	0.02	-7.8449	18.1182	0.89563	0.0:0.0:1.0:0.0	.	405	Q8IYT4	KATL2_HUMAN	K	405;333	ENSP00000348478:E405K;ENSP00000245121:E333K	ENSP00000245121:E333K	E	+	1	0	KATNAL2	42879613	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	9.583000	0.98217	2.356000	0.79943	0.561000	0.74099	GAG		0.532	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303	Missense_Mutation	18	68	0	0	0	1	0	18	68				
MST1R	4486	broad.mit.edu	37	3	49924801	49924801	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:49924801G>A	ENST00000296474.3	-	20	4169	c.4142C>T	c.(4141-4143)tCa>tTa	p.S1381L	MST1R_ENST00000344206.4_Missense_Mutation_p.S1332L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1381					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGCATGGGTGAGAACTGCGG	0.592																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(4141-4143)tCa>tTa		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							121.0	111.0	114.0					3																	49924801		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49924801G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4142C>T	3.37:g.49924801G>A	ENSP00000296474:p.Ser1381Leu					MST1R_ENST00000344206.4_Missense_Mutation_p.S1332L	p.S1381L	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	20	4169	-			1381					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.4142C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766365	0.49574	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.74002	-0.79;-0.8	5.08	4.2	0.49525	.	0.338398	0.35378	N	0.003245	T	0.64940	0.2644	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.59386	-0.7464	10	0.59425	D	0.04	1.0185	9.3728	0.38264	0.0965:0.0:0.9035:0.0	.	1381	Q04912	RON_HUMAN	L	1381;1332	ENSP00000296474:S1381L;ENSP00000341325:S1332L	ENSP00000296474:S1381L	S	-	2	0	MST1R	49899805	0.987000	0.35691	0.004000	0.12327	0.035000	0.12851	2.958000	0.49145	1.509000	0.48786	0.655000	0.94253	TCA		0.592	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			35	119	0	0	0	1	0	35	119				
GTPBP8	29083	broad.mit.edu	37	3	112710045	112710045	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:112710045C>T	ENST00000383678.2	+	1	281	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	GTPBP8_ENST00000383677.3_Missense_Mutation_p.H67Y|GTPBP8_ENST00000467752.1_5'Flank|RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000473129.1_5'Flank	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	67					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GCAAGACCTTCACCTGCGTAT	0.622																																						ENST00000383677.3																			0				kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						c.(199-201)Cac>Tac		GTP-binding protein 8 (putative)							49.0	48.0	49.0					3																	112710045		2203	4300	6503	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112710045C>T	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.199C>T	3.37:g.112710045C>T	ENSP00000373176:p.His67Tyr					GTPBP8_ENST00000383678.2_Missense_Mutation_p.H67Y	p.H67Y	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN			1	214	+			67					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.199C>T	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447439	0.43429	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.45668	0.97;0.89	6.17	4.33	0.51752	.	0.910475	0.09640	N	0.775074	T	0.39860	0.1094	M	0.62723	1.935	0.58432	D	0.999992	P;B	0.35348	0.496;0.363	B;B	0.30401	0.115;0.054	T	0.05419	-1.0886	10	0.31617	T	0.26	-15.9017	10.6211	0.45481	0.1365:0.7935:0.0:0.0701	.	67;67	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	Y	67	ENSP00000373176:H67Y;ENSP00000373175:H67Y	ENSP00000295864:H67Y	H	+	1	0	GTPBP8	114192735	0.001000	0.12720	0.012000	0.15200	0.131000	0.20780	0.846000	0.27682	0.870000	0.35726	0.655000	0.94253	CAC		0.622	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		16	84	0	0	0	1	0	16	84				
GPR124	25960	broad.mit.edu	37	8	37691353	37691353	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr8:37691353G>C	ENST00000412232.2	+	10	1457	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	GPR124_ENST00000315215.7_Missense_Mutation_p.E482Q	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	482					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCAGATCAAAGAGGTGAGACT	0.532																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1444-1446)Gag>Cag		G protein-coupled receptor 124							84.0	88.0	87.0					8																	37691353		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37691353G>C	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1444G>C	8.37:g.37691353G>C	ENSP00000406367:p.Glu482Gln					GPR124_ENST00000412232.2_Missense_Mutation_p.E482Q	p.E482Q			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		10	1807	+			482					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1444G>C	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865678	0.32977	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.42900	0.96;0.96	4.51	4.51	0.55191	.	0.337329	0.28821	N	0.014026	T	0.32436	0.0829	N	0.14661	0.345	0.47659	D	0.999481	B;B	0.31548	0.328;0.192	B;B	0.40009	0.316;0.053	T	0.26155	-1.0111	10	0.46703	T	0.11	-17.6585	12.3127	0.54938	0.0:0.3289:0.671:0.0	.	482;482	Q96PE1-2;Q96PE1	.;GP124_HUMAN	Q	475;482;482	ENSP00000323508:E482Q;ENSP00000406367:E482Q	ENSP00000323508:E482Q	E	+	1	0	GPR124	37810511	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.969000	0.63735	2.064000	0.61679	0.561000	0.74099	GAG		0.532	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			17	76	0	0	0	1	0	17	76				
ZNF133	7692	broad.mit.edu	37	20	18297346	18297346	+	Silent	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:18297346C>G	ENST00000316358.4	+	4	1948	c.1851C>G	c.(1849-1851)ctC>ctG	p.L617L	RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000401790.1_Silent_p.L617L|ZNF133_ENST00000535822.1_Silent_p.L522L|ZNF133_ENST00000538547.1_Silent_p.L522L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000377671.3_Silent_p.L616L|ZNF133_ENST00000396026.3_Silent_p.L620L|ZNF133_ENST00000402618.2_Silent_p.L554L	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	617					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)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCTTCAGCCTCAAGTCTCACC	0.567																																						ENST00000377671.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1846-1848)ctC>ctG		zinc finger protein 133							63.0	61.0	62.0					20																	18297346		2203	4300	6503	SO:0001819	synonymous_variant	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18297346C>G	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1851C>G	20.37:g.18297346C>G						ZNF133_ENST00000402618.2_Silent_p.L554L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000316358.4_Silent_p.L617L|ZNF133_ENST00000535822.1_Silent_p.L522L|ZNF133_ENST00000396026.3_Silent_p.L620L|ZNF133_ENST00000401790.1_Silent_p.L617L|ZNF133_ENST00000538547.1_Silent_p.L522L	p.L616L	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN			7	2407	+			617					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	ENST00000316358.4	37	c.1848C>G																																																																																					0.567	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		5	63	0	0	0	1	0	5	63				
TRPC4	7223	broad.mit.edu	37	13	38237809	38237809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr13:38237809C>A	ENST00000379705.3	-	6	2289	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	TRPC4_ENST00000379679.1_Nonsense_Mutation_p.E305*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.E478*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.E478*|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.E478*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.E478*|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.E478*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.E305*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	478					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATAAAGCCTCTGCCACCAGA	0.443																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1432-1434)Gag>Tag		transient receptor potential cation channel, subfamily C, member 4							56.0	56.0	56.0					13																	38237809		2203	4300	6503	SO:0001587	stop_gained	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237809C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1432G>T	13.37:g.38237809C>A	ENSP00000369027:p.Glu478*					TRPC4_ENST00000379681.3_Nonsense_Mutation_p.E478*|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.E478*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.E478*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.E305*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.E478*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.E478*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.E305*	p.E478*			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	2289	-			478					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	ENST00000379705.3	37	c.1432G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	39	7.713049	0.98447	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.1596	20.054	0.97641	0.0:1.0:0.0:0.0	.	.	.	.	X	478;478;305;305;478;478;478;478	.	ENSP00000342580:E305X	E	-	1	0	TRPC4	37135809	1.000000	0.71417	0.987000	0.45799	0.853000	0.48598	7.769000	0.85360	2.808000	0.96608	0.655000	0.94253	GAG		0.443	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		4	46	1	0	1	1	1	4	46				
HSPD1	3329	broad.mit.edu	37	2	198352695	198352695	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:198352695C>T	ENST00000388968.3	-	11	1723	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	HSPD1_ENST00000345042.2_Missense_Mutation_p.E486K	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	486					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			AAAGATCCTTCAACACCTGCA	0.328																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(1456-1458)Gaa>Aaa		heat shock 60kDa protein 1 (chaperonin)							45.0	44.0	44.0					2																	198352695		2202	4299	6501	SO:0001583	missense	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198352695C>T	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1456G>A	2.37:g.198352695C>T	ENSP00000373620:p.Glu486Lys					HSPD1_ENST00000345042.2_Missense_Mutation_p.E486K	p.E486K	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		11	1723	-			486					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.1456G>A	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467091	0.96257	.	.	ENSG00000144381	ENST00000388968;ENST00000345042	T;T	0.78707	-1.2;-1.2	5.26	5.26	0.73747	.	0.047237	0.85682	D	0.000000	D	0.84000	0.5376	M	0.76938	2.355	0.80722	D	1	B;B;P	0.43973	0.045;0.045;0.823	B;B;P	0.47864	0.133;0.198;0.559	D	0.86356	0.1714	10	0.87932	D	0	-25.5105	19.2198	0.93791	0.0:1.0:0.0:0.0	.	477;486;486	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	K	486	ENSP00000373620:E486K;ENSP00000340019:E486K	ENSP00000340019:E486K	E	-	1	0	HSPD1	198060940	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.220000	0.78008	2.616000	0.88540	0.455000	0.32223	GAA		0.328	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		9	13	0	0	0	1	0	9	13				
SPCS3	60559	broad.mit.edu	37	4	177241299	177241299	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:177241299C>T	ENST00000503362.1	+	1	185	c.72C>T	c.(70-72)ttC>ttT	p.F24F	RP11-87F15.2_ENST00000512634.1_RNA	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	24					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		CGCTCACCTTCGGCTGCTTCA	0.657																																						ENST00000503362.1																			0				ovary(2)	2						c.(70-72)ttC>ttT		signal peptidase complex subunit 3 homolog (S. cerevisiae)							67.0	77.0	73.0					4																	177241299		2066	4205	6271	SO:0001819	synonymous_variant	60559				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr4:177241299C>T	AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.72C>T	4.37:g.177241299C>T						RP11-87F15.2_ENST00000512634.1_RNA	p.F24F	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)	1	185	+		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	24					P12280|Q9H0S7	Silent	SNP	ENST00000503362.1	37	c.72C>T	CCDS54823.1																																																																																				0.657	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928		24	74	0	0	0	1	0	24	74				
XRN1	54464	broad.mit.edu	37	3	142151666	142151666	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:142151666C>T	ENST00000264951.4	-	2	262	c.145G>A	c.(145-147)Gat>Aat	p.D49N	XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000463916.1_Missense_Mutation_p.D49N|XRN1_ENST00000392981.2_Missense_Mutation_p.D49N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	49					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGAACATCATCATCATTAGGA	0.333																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(145-147)Gat>Aat		5'-3' exoribonuclease 1							69.0	69.0	69.0					3																	142151666		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142151666C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.145G>A	3.37:g.142151666C>T	ENSP00000264951:p.Asp49Asn					XRN1_ENST00000392981.2_Missense_Mutation_p.D49N|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000463916.1_Missense_Mutation_p.D49N	p.D49N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			2	262	-			49					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.145G>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797259	0.50208	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	T;T	0.30448	1.54;1.53	6.04	6.04	0.98038	Putative 5-3 exonuclease (1);	0.047522	0.85682	D	0.000000	T	0.32852	0.0843	L	0.36672	1.1	0.80722	D	1	B;B;B	0.25719	0.016;0.109;0.132	B;B;B	0.32393	0.01;0.09;0.145	T	0.03364	-1.1044	10	0.38643	T	0.18	-20.8573	20.5792	0.99380	0.0:1.0:0.0:0.0	.	49;49;49	Q8IZH2-3;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	N	49	ENSP00000264951:D49N;ENSP00000376707:D49N	ENSP00000264951:D49N	D	-	1	0	XRN1	143634356	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.989000	0.70587	2.873000	0.98535	0.561000	0.74099	GAT		0.333	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		6	43	0	0	0	1	0	6	43				
NEK5	341676	broad.mit.edu	37	13	52676070	52676070	+	Splice_Site	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr13:52676070C>G	ENST00000355568.4	-	11	1030	c.891G>C	c.(889-891)caG>caC	p.Q297H		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	297					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CACACTTACTCTGGACCACCT	0.428																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.e11+1		NIMA-related kinase 5							96.0	85.0	89.0					13																	52676070		2203	4300	6503	SO:0001630	splice_region_variant	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52676070C>G	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.892+1G>C	13.37:g.52676070C>G							p.Q297_splice	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	11	1030	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	297					Q5TAP5	Splice_Site	SNP	ENST00000355568.4	37	c.892_splice	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958833	0.34565	.	.	ENSG00000197168	ENST00000355568	T	0.71461	-0.57	5.38	-3.48	0.04739	Protein kinase-like domain (1);	0.614664	0.13854	N	0.358155	T	0.47322	0.1439	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.21552	-1.0242	10	0.36615	T	0.2	.	1.5512	0.02575	0.4086:0.2754:0.098:0.2181	.	297	Q6P3R8	NEK5_HUMAN	H	297	ENSP00000347767:Q297H	ENSP00000347767:Q297H	Q	-	3	2	NEK5	51574071	0.054000	0.20591	0.015000	0.15790	0.535000	0.34838	-0.327000	0.07955	-0.651000	0.05415	0.462000	0.41574	CAG		0.428	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	Missense_Mutation	13	39	0	0	0	1	0	13	39				
FLNC	2318	broad.mit.edu	37	7	128475487	128475487	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:128475487G>A	ENST00000325888.8	+	2	721	c.460G>A	c.(460-462)Gag>Aag	p.E154K	FLNC_ENST00000346177.6_Missense_Mutation_p.E154K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	154	Actin-binding.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGAAGATGATGAGGATGCCCG	0.587																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(460-462)Gag>Aag		filamin C, gamma							95.0	104.0	101.0					7																	128475487		2203	4300	6503	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128475487G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.460G>A	7.37:g.128475487G>A	ENSP00000327145:p.Glu154Lys					FLNC_ENST00000346177.6_Missense_Mutation_p.E154K	p.E154K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			2	721	+			154			Actin-binding.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.460G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986957	0.74589	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.59772	0.24;0.24	5.84	5.84	0.93424	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	N	0.24115	0.695	0.80722	D	1	D;B	0.71674	0.998;0.004	D;B	0.74023	0.982;0.003	T	0.63350	-0.6657	10	0.37606	T	0.19	.	19.116	0.93340	0.0:0.0:1.0:0.0	.	154;154	Q14315-2;Q14315	.;FLNC_HUMAN	K	154	ENSP00000327145:E154K;ENSP00000344002:E154K	ENSP00000327145:E154K	E	+	1	0	FLNC	128262723	1.000000	0.71417	0.971000	0.41717	0.898000	0.52572	9.869000	0.99810	2.768000	0.95171	0.561000	0.74099	GAG		0.587	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			36	90	0	0	0	1	0	36	90				
JAG1	182	broad.mit.edu	37	20	10622175	10622175	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:10622175G>C	ENST00000254958.5	-	23	3364	c.2849C>G	c.(2848-2850)tCt>tGt	p.S950C	JAG1_ENST00000423891.2_Missense_Mutation_p.S791C	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	950					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATAGGAGTCAGAGGTGCACTT	0.488									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(2848-2850)tCt>tGt		jagged 1							133.0	131.0	132.0					20																	10622175		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10622175G>C	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2849C>G	20.37:g.10622175G>C	ENSP00000254958:p.Ser950Cys					JAG1_ENST00000423891.2_Missense_Mutation_p.S791C	p.S950C	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			23	3364	-			950					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.2849C>G	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734833	0.69189	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.86164	-2.06;-2.08	5.8	4.86	0.63082	.	0.192946	0.51477	D	0.000090	T	0.67107	0.2858	N	0.00140	-2.01	0.51767	D	0.999938	P	0.38300	0.626	P	0.45232	0.474	T	0.78966	-0.1995	10	0.72032	D	0.01	.	11.6573	0.51325	0.1409:0.0:0.8591:0.0	.	950	P78504	JAG1_HUMAN	C	950;791	ENSP00000254958:S950C;ENSP00000389519:S791C	ENSP00000254958:S950C	S	-	2	0	JAG1	10570175	1.000000	0.71417	0.281000	0.24762	0.967000	0.64934	5.464000	0.66719	1.454000	0.47793	0.655000	0.94253	TCT		0.488	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		30	95	0	0	0	1	0	30	95				
SBF2	81846	broad.mit.edu	37	11	9871600	9871600	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:9871600G>C	ENST00000256190.8	-	22	2913	c.2776C>G	c.(2776-2778)Ctc>Gtc	p.L926V	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	926	GRAM.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCTCTGAAGAGAATTCTGTAT	0.507																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2776-2778)Ctc>Gtc		SET binding factor 2							188.0	182.0	184.0					11																	9871600		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9871600G>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2776C>G	11.37:g.9871600G>C	ENSP00000256190:p.Leu926Val					RP11-1H15.2_ENST00000533659.1_RNA	p.L926V	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	22	2913	-			926			GRAM.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2776C>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414779	0.25465	.	.	ENSG00000133812	ENST00000256190	D	0.86297	-2.1	6.17	4.22	0.49857	GRAM (2);	0.167540	0.47455	D	0.000228	T	0.66713	0.2817	N	0.01705	-0.755	0.41004	D	0.984954	B	0.06786	0.001	B	0.16722	0.016	T	0.61734	-0.7002	10	0.23302	T	0.38	.	7.9866	0.30216	0.0781:0.0:0.6305:0.2914	.	926	Q86WG5	MTMRD_HUMAN	V	926	ENSP00000256190:L926V	ENSP00000256190:L926V	L	-	1	0	SBF2	9828176	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.698000	0.61789	1.636000	0.50526	0.655000	0.94253	CTC		0.507	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		26	83	0	0	0	1	0	26	83				
OPRM1	4988	broad.mit.edu	37	6	154412513	154412513	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:154412513C>T	ENST00000330432.7	+	3	1307	c.1070C>T	c.(1069-1071)tCt>tTt	p.S357F	OPRM1_ENST00000518759.1_Missense_Mutation_p.S276F|OPRM1_ENST00000522555.1_Missense_Mutation_p.S257F|OPRM1_ENST00000419506.2_Missense_Mutation_p.S357F|OPRM1_ENST00000524163.1_Missense_Mutation_p.S357F|OPRM1_ENST00000428397.2_Missense_Mutation_p.S357F|OPRM1_ENST00000414028.2_Missense_Mutation_p.S357F|OPRM1_ENST00000435918.2_Missense_Mutation_p.S357F|OPRM1_ENST00000452687.2_Missense_Mutation_p.S357F|OPRM1_ENST00000229768.5_Missense_Mutation_p.S357F|OPRM1_ENST00000434900.2_Missense_Mutation_p.S450F|OPRM1_ENST00000360422.4_Missense_Mutation_p.S357F|OPRM1_ENST00000520708.1_Missense_Mutation_p.S257F|OPRM1_ENST00000337049.4_Missense_Mutation_p.S357F|OPRM1_ENST00000522236.1_Missense_Mutation_p.S257F	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	357					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATCCCAACCTCTTCCAACATT	0.453																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1069-1071)tCt>tTt		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						79.0	77.0	78.0					6																	154412513		1925	4130	6055	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412513C>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1070C>T	6.37:g.154412513C>T	ENSP00000328264:p.Ser357Phe					OPRM1_ENST00000452687.2_Missense_Mutation_p.S357F|OPRM1_ENST00000428397.2_Missense_Mutation_p.S357F|OPRM1_ENST00000518759.1_Missense_Mutation_p.S276F|OPRM1_ENST00000330432.7_Missense_Mutation_p.S357F|OPRM1_ENST00000524163.1_Missense_Mutation_p.S357F|OPRM1_ENST00000229768.5_Missense_Mutation_p.S357F|OPRM1_ENST00000522236.1_Missense_Mutation_p.S257F|OPRM1_ENST00000434900.2_Missense_Mutation_p.S450F|OPRM1_ENST00000522555.1_Missense_Mutation_p.S257F|OPRM1_ENST00000419506.2_Missense_Mutation_p.S357F|OPRM1_ENST00000435918.2_Missense_Mutation_p.S357F|OPRM1_ENST00000520708.1_Missense_Mutation_p.S257F|OPRM1_ENST00000360422.4_Missense_Mutation_p.S357F|OPRM1_ENST00000337049.4_Missense_Mutation_p.S357F	p.S357F	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1120	+		Ovarian(120;0.196)	357					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1070C>T	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671706	0.47781	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	6.16	6.16	0.99307	.	0.273028	0.43260	D	0.000585	T	0.44561	0.1299	L	0.55481	1.735	0.48087	D	0.999588	P;B;B;P;P;B;B;P;B;P;P;B	0.50272	0.81;0.352;0.352;0.915;0.933;0.444;0.239;0.58;0.08;0.659;0.882;0.352	P;P;B;P;P;B;B;P;B;P;P;B	0.53988	0.632;0.482;0.357;0.739;0.689;0.308;0.139;0.482;0.195;0.5;0.694;0.357	T	0.22765	-1.0207	10	0.62326	D	0.03	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	357;357;357;357;450;276;257;357;357;357;357;357	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	F	450;257;276;357;357;357;357;357;357;357;357;357;357;257;257	ENSP00000394624:S450F;ENSP00000430876:S257F;ENSP00000430260:S276F;ENSP00000328264:S357F;ENSP00000353598:S357F;ENSP00000411903:S357F;ENSP00000410497:S357F;ENSP00000229768:S357F;ENSP00000403549:S357F;ENSP00000430097:S357F;ENSP00000399359:S357F;ENSP00000413752:S357F;ENSP00000338381:S357F;ENSP00000429719:S257F;ENSP00000429373:S257F	ENSP00000229768:S357F	S	+	2	0	OPRM1	154454206	0.786000	0.28738	0.998000	0.56505	0.152000	0.21847	3.942000	0.56614	2.937000	0.99478	0.650000	0.86243	TCT		0.453	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		14	62	0	0	0	1	0	14	62				
GRK7	131890	broad.mit.edu	37	3	141535592	141535592	+	Silent	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:141535592T>C	ENST00000264952.2	+	4	1499	c.1362T>C	c.(1360-1362)ttT>ttC	p.F454F		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ATCATTTCTTTAAAACGATCA	0.423																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1360-1362)ttT>ttC		G protein-coupled receptor kinase 7							93.0	94.0	94.0					3																	141535592		2203	4300	6503	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535592T>C		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1362T>C	3.37:g.141535592T>C							p.F454F	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			4	1499	+			454			Protein kinase.			Silent	SNP	ENST00000264952.2	37	c.1362T>C	CCDS3120.1																																																																																				0.423	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		25	106	0	0	0	1	0	25	106				
PPP1R9A	55607	broad.mit.edu	37	7	94540770	94540770	+	Missense_Mutation	SNP	G	G	A	rs73423007		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:94540770G>A	ENST00000433881.1	+	2	1877	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E449K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E449K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E449K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E449K|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E449K			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	449	Interacts with protein phosphatase 1. {ECO:0000250}.|Poly-Glu.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCCAGAAGAAGAAGAAATCCC	0.378										HNSCC(28;0.073)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		20669	0.0		0.0	False		,,,				2504	0.0					ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(1345-1347)Gaa>Aaa		protein phosphatase 1, regulatory subunit 9A		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	8,4398	6.2+/-15.9	0,8,2195	58.0	55.0	56.0		1345,1345,1345,1345,1345	5.4	1.0	7	dbSNP_130	56	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	PPP1R9A	NM_001166160.1,NM_001166161.1,NM_001166162.1,NM_001166163.1,NM_017650.2	56,56,56,56,56	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	449/1375,449/1297,449/1254,449/1091,449/1099	94540770	8,12998	2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540770G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1345G>A	7.37:g.94540770G>A	ENSP00000398870:p.Glu449Lys	HNSCC(28;0.073)				PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E449K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E449K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E449K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E449K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E449K	p.E449K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	1561	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		449			Interacts with protein phosphatase 1 (By similarity).|Poly-Glu.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1345G>A	CCDS34683.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.07	1.826956	0.32329	0.001816	0.0	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.18016	2.24;2.26;2.25;2.26;2.26;2.25	5.38	5.38	0.77491	.	0.524261	0.21315	N	0.076561	T	0.22666	0.0547	M	0.71036	2.16	0.49130	D	0.999759	B;B;B;B;B	0.34200	0.043;0.032;0.038;0.192;0.441	B;B;B;B;B	0.27608	0.023;0.037;0.014;0.032;0.081	T	0.03524	-1.1028	9	.	.	.	.	19.5234	0.95195	0.0:0.0:1.0:0.0	.	449;449;449;449;449	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	K	449	ENSP00000405514:E449K;ENSP00000344524:E449K;ENSP00000411342:E449K;ENSP00000398870:E449K;ENSP00000289495:E449K;ENSP00000402893:E449K	.	E	+	1	0	PPP1R9A	94378706	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	8.850000	0.92190	2.707000	0.92482	0.655000	0.94253	GAA		0.378	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		8	34	0	0	0	1	0	8	34				
FAM167B	84734	broad.mit.edu	37	1	32713068	32713068	+	Missense_Mutation	SNP	G	G	A	rs368102614		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:32713068G>A	ENST00000373582.3	+	1	235	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	16										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						TGAAGAGGACGAGGAGGATGA	0.597																																						ENST00000373582.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(46-48)Gag>Aag		family with sequence similarity 167, member B		G	LYS/GLU	0,4136		0,0,2068	55.0	66.0	62.0		46	4.0	0.6	1		62	1,8413		0,1,4206	no	missense	FAM167B	NM_032648.2	56	0,1,6274	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	16/164	32713068	1,12549	2068	4207	6275	SO:0001583	missense	84734							g.chr1:32713068G>A	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.46G>A	1.37:g.32713068G>A	ENSP00000362684:p.Glu16Lys						p.E16K	NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN			1	235	+			16					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.46G>A	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	15.80	2.938819	0.52972	0.0	1.19E-4	ENSG00000183615	ENST00000373582	T	0.31247	1.5	4.03	4.03	0.46877	.	0.705821	0.11383	U	0.569595	T	0.30541	0.0768	L	0.54323	1.7	0.37492	D	0.916447	D	0.57899	0.981	B	0.41764	0.366	T	0.26189	-1.0110	10	0.20519	T	0.43	-7.2939	14.458	0.67431	0.0:0.0:1.0:0.0	.	16	Q9BTA0	F167B_HUMAN	K	16	ENSP00000362684:E16K	ENSP00000362684:E16K	E	+	1	0	FAM167B	32485655	1.000000	0.71417	0.550000	0.28217	0.383000	0.30230	6.792000	0.75125	2.525000	0.85131	0.491000	0.48974	GAG		0.597	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		21	93	0	0	0	1	0	21	93				
GPR156	165829	broad.mit.edu	37	3	119892255	119892255	+	Silent	SNP	G	G	A	rs199542673		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:119892255G>A	ENST00000464295.1	-	9	1441	c.996C>T	c.(994-996)ttC>ttT	p.F332F	GPR156_ENST00000315843.3_Silent_p.F332F|GPR156_ENST00000461057.1_Silent_p.F328F			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	332						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGGGAGTGCTGAAATATTTGG	0.433																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(994-996)ttC>ttT		G protein-coupled receptor 156							235.0	210.0	218.0					3																	119892255		2203	4300	6503	SO:0001819	synonymous_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119892255G>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.996C>T	3.37:g.119892255G>A						GPR156_ENST00000461057.1_Silent_p.F328F|GPR156_ENST00000315843.3_Silent_p.F332F	p.F332F			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	9	1441	-			332					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	37	c.996C>T	CCDS2997.1																																																																																				0.433	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		22	112	0	0	0	1	0	22	112				
TRPM5	29850	broad.mit.edu	37	11	2444157	2444157	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:2444157C>T	ENST00000155858.6	-	1	118	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	TRPM5_ENST00000528453.1_Missense_Mutation_p.R37Q|TRPM5_ENST00000452833.1_Missense_Mutation_p.R37Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.R37Q	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5									p.R37P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TACCTTGCCTCGCTTCTTCCC	0.657																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			1	Substitution - Missense(1)	p.R37P(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(109-111)cGa>cAa		transient receptor potential cation channel, subfamily M, member 5							78.0	72.0	74.0					11																	2444157		2202	4299	6501	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2444157C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.110G>A	11.37:g.2444157C>T	ENSP00000155858:p.Arg37Gln					TRPM5_ENST00000528453.1_Missense_Mutation_p.R37Q|TRPM5_ENST00000155858.6_Missense_Mutation_p.R37Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.R37Q	p.R37Q			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	118	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	37						Missense_Mutation	SNP	ENST00000155858.6	37	c.110G>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	c	12.37	1.917885	0.33815	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	2.84	-0.28	0.12886	.	0.268702	0.22221	U	0.062957	T	0.43897	0.1268	L	0.55743	1.74	0.26462	N	0.975437	B;B;B	0.28378	0.209;0.129;0.045	B;B;B	0.24701	0.055;0.055;0.045	T	0.15263	-1.0443	10	0.13108	T	0.6	-6.0E-4	2.2148	0.03957	0.2494:0.4521:0.0:0.2985	.	37;37;37	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	Q	29;37;37;37;37;37	ENSP00000434383:R29Q;ENSP00000155858:R37Q;ENSP00000387965:R37Q;ENSP00000434121:R37Q;ENSP00000436809:R37Q	ENSP00000155858:R37Q	R	-	2	0	TRPM5	2400733	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	0.052000	0.14163	0.082000	0.17018	0.651000	0.88453	CGA		0.657	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		13	26	0	0	0	1	0	13	26				
RPP21	79897	broad.mit.edu	37	6	30313141	30313141	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:30313141G>A	ENST00000442966.2	+	2	137	c.124G>A	c.(124-126)Gag>Aag	p.E42K	RPP21_ENST00000428040.2_Missense_Mutation_p.E65K|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.E303K|RPP21_ENST00000436442.2_Missense_Mutation_p.E42K|RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000433076.2_Missense_Mutation_p.E42K			Q9H633	RPP21_HUMAN	ribonuclease P/MRP 21kDa subunit	42					response to drug (GO:0042493)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonuclease P activity (GO:0004526)			endometrium(2)|ovary(1)|prostate(1)	4						CTGCTACACTGAGAGGACCAT	0.706																																						ENST00000513556.1																			0											c.(907-909)Gag>Aag									41.0	49.0	46.0					6																	30313141		1511	2709	4220	SO:0001583	missense	202658					intracellular	zinc ion binding	g.chr6:30313141G>A	AK026291	CCDS4679.1, CCDS56409.1, CCDS56410.1	6p21.32	2012-05-21	2007-06-26	2004-03-19	ENSG00000241370	ENSG00000241370			21300	protein-coding gene	gene with protein product		612524	"""chromosome 6 open reading frame 135"", ""ribonuclease P 21kDa subunit"""	C6orf135			Standard	NM_001199120		Approved	FLJ22638, Em:AB014085.3		Q9H633	OTTHUMG00000031220	ENST00000442966.2:c.124G>A	6.37:g.30313141G>A	ENSP00000403833:p.Glu42Lys					RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000442966.2_Missense_Mutation_p.E42K|RPP21_ENST00000436442.2_Missense_Mutation_p.E42K|RPP21_ENST00000428040.2_Missense_Mutation_p.E65K|RPP21_ENST00000433076.2_Missense_Mutation_p.E42K	p.E303K	NM_001199119.1	NP_001186048.1	A6ZJ12	A6ZJ12_HUMAN			7	907	+			303					A2AAZ8|B0S834|B0S835|Q5JPL9|Q5JPM1|Q5STF8|Q5STF9|Q5STG2|Q5SU41|Q5SU42|Q86Y49|Q86Y50|Q86Y51|Q96F16	Missense_Mutation	SNP	ENST00000442966.2	37	c.907G>A	CCDS4679.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274180	0.95459	.	.	ENSG00000204599;ENSG00000248167;ENSG00000241370;ENSG00000241370;ENSG00000241370;ENSG00000241370	ENST00000412529;ENST00000513556;ENST00000433076;ENST00000442966;ENST00000428040;ENST00000436442	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.12	5.12	0.69794	.	0.059553	0.64402	D	0.000003	T	0.37598	0.1009	L	0.36672	1.1	0.42449	D	0.992741	B;P;P;D	0.58970	0.017;0.702;0.856;0.984	B;B;P;P	0.54629	0.023;0.255;0.525;0.757	T	0.27905	-1.0060	10	0.87932	D	0	-16.2826	13.939	0.64043	0.0:0.0:1.0:0.0	.	305;42;42;65	F5H2V3;Q9H633-3;Q9H633;Q9H633-2	.;.;RPP21_HUMAN;.	K	305;303;42;42;65;42	ENSP00000424048:E303K;ENSP00000409799:E42K;ENSP00000403833:E42K;ENSP00000394320:E65K;ENSP00000397778:E42K	ENSP00000394320:E65K	E	+	1	0	RPP21;TRIM39-RPP21;TRIM39	30421120	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.384000	0.52478	2.656000	0.90262	0.563000	0.77884	GAG		0.706	RPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076451.2	NM_024839		10	35	0	0	0	1	0	10	35				
SI	6476	broad.mit.edu	37	3	164739023	164739023	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:164739023C>T	ENST00000264382.3	-	27	3310	c.3248G>A	c.(3247-3249)aGa>aAa	p.R1083K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1083	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTACATGACTCTTCCACTGCT	0.348										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3247-3249)aGa>aAa		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						113.0	114.0	114.0					3																	164739023		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739023C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3248G>A	3.37:g.164739023C>T	ENSP00000264382:p.Arg1083Lys	HNSCC(35;0.089)					p.R1083K	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			27	3310	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1083			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3248G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	3.372	-0.128164	0.06753	.	.	ENSG00000090402	ENST00000264382	T	0.04862	3.54	4.64	-1.32	0.09201	Glycoside hydrolase-type carbohydrate-binding (1);	0.537665	0.19613	N	0.110085	T	0.02727	0.0082	N	0.21617	0.685	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44267	-0.9339	10	0.08599	T	0.76	.	2.1081	0.03696	0.1101:0.3127:0.3036:0.2736	.	1083	P14410	SUIS_HUMAN	K	1083	ENSP00000264382:R1083K	ENSP00000264382:R1083K	R	-	2	0	SI	166221717	0.000000	0.05858	0.454000	0.27019	0.745000	0.42441	-0.339000	0.07832	-0.082000	0.12640	0.585000	0.79938	AGA		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		24	83	0	0	0	1	0	24	83				
AR	367	broad.mit.edu	37	X	66766006	66766006	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrX:66766006G>A	ENST00000374690.3	+	1	1542	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	AR_ENST00000504326.1_Missense_Mutation_p.E340K|AR_ENST00000396044.3_Missense_Mutation_p.E340K|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	338	Modulating.		P -> L (in prostate cancer). {ECO:0000269|PubMed:7511268}.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CGGGACACTTGAACTGCCGTC	0.592									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(1018-1020)Gaa>Aaa		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						39.0	29.0	33.0					X																	66766006		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66766006G>A	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1018G>A	X.37:g.66766006G>A	ENSP00000363822:p.Glu340Lys					AR_ENST00000504326.1_Missense_Mutation_p.E340K|AR_ENST00000396044.3_Missense_Mutation_p.E340K|AR_ENST00000513847.1_3'UTR	p.E340K	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	1542	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	338		P -> L (in prostate cancer).	Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.1018G>A	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.275620	0.59649	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95518	-3.73;-3.73;-3.73	4.99	4.13	0.48395	.	0.877600	0.10204	N	0.702973	D	0.97328	0.9126	M	0.89715	3.055	0.29143	N	0.878917	P;B;D	0.58970	0.798;0.29;0.984	P;P;P	0.57204	0.648;0.472;0.815	D	0.92029	0.5632	10	0.38643	T	0.18	.	10.2686	0.43470	0.0983:0.0:0.9017:0.0	.	340;340;338	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	K	150;340;340;340;332	ENSP00000363822:E340K;ENSP00000421155:E340K;ENSP00000379359:E340K	ENSP00000363822:E340K	E	+	1	0	AR	66682731	0.979000	0.34478	0.908000	0.35775	0.416000	0.31233	5.665000	0.68052	1.102000	0.41551	0.509000	0.49947	GAA		0.592	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		18	22	0	0	0	1	0	18	22				
SPATA33	124045	broad.mit.edu	37	16	89724669	89724669	+	Missense_Mutation	SNP	G	G	C	rs138527131	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr16:89724669G>C	ENST00000301031.4	+	2	48	c.48G>C	c.(46-48)aaG>aaC	p.K16N	SPATA33_ENST00000568929.1_5'UTR|CHMP1A_ENST00000550102.1_5'Flank|SPATA33_ENST00000579310.1_Missense_Mutation_p.K17N|CHMP1A_ENST00000535997.2_5'Flank|CHMP1A_ENST00000397901.3_5'Flank|CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000253475.5_5'Flank	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	16						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGGAGCAAAAGAAGGGATCCA	0.532																																						ENST00000301031.4																			0											c.(46-48)aaG>aaC		spermatogenesis associated 33							81.0	85.0	84.0					16																	89724669		2198	4300	6498	SO:0001583	missense	124045							g.chr16:89724669G>C	AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"""chromosome 16 open reading frame 55"""	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.48G>C	16.37:g.89724669G>C	ENSP00000301031:p.Lys16Asn					SPATA33_ENST00000568929.1_5'UTR|SPATA33_ENST00000579310.1_Missense_Mutation_p.K17N	p.K16N	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1					2	48	+								A8WFL2|B4DZN8	Missense_Mutation	SNP	ENST00000301031.4	37	c.48G>C	CCDS10983.1	.	.	.	.	.	.	.	.	.	.	G	7.178	0.589017	0.13812	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.47869	0.83	2.64	0.636	0.17729	.	.	.	.	.	T	0.43255	0.1239	N	0.19112	0.55	0.09310	N	1	D;D;D	0.65815	0.982;0.995;0.982	P;P;P	0.61003	0.66;0.882;0.66	T	0.22452	-1.0216	9	0.46703	T	0.11	.	4.7357	0.12986	0.3022:0.0:0.6978:0.0	.	17;30;16	B4DZN8;Q86XC3;Q96N06	.;.;CP055_HUMAN	N	16;17	ENSP00000301031:K16N	ENSP00000301031:K16N	K	+	3	2	C16orf55	88252170	0.074000	0.21230	0.001000	0.08648	0.171000	0.22731	1.488000	0.35551	0.192000	0.20272	0.598000	0.82781	AAG		0.532	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269924.2	NM_153025		19	68	0	0	0	1	0	19	68				
CD207	50489	broad.mit.edu	37	2	71062641	71062641	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:71062641G>A	ENST00000410009.3	-	2	216	c.171C>T	c.(169-171)gtC>gtT	p.V57V		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	57					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CCTGCAGCAGGACGGAGGCGA	0.607																																						ENST00000410009.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						c.(169-171)gtC>gtT		CD207 molecule, langerin							64.0	72.0	69.0					2																	71062641		2110	4226	6336	SO:0001819	synonymous_variant	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71062641G>A	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.171C>T	2.37:g.71062641G>A							p.V57V	NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN			2	216	-			57						Silent	SNP	ENST00000410009.3	37	c.171C>T																																																																																					0.607	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		8	28	0	0	0	1	0	8	28				
LMO3	55885	broad.mit.edu	37	12	16713349	16713349	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr12:16713349C>A	ENST00000320122.6	-	3	852	c.330G>T	c.(328-330)caG>caT	p.Q110H	LMO3_ENST00000354662.1_Missense_Mutation_p.Q110H|LMO3_ENST00000534946.1_Missense_Mutation_p.Q110H|LMO3_ENST00000261169.6_Missense_Mutation_p.Q121H|LMO3_ENST00000540445.1_Missense_Mutation_p.Q132H|LMO3_ENST00000540848.1_Missense_Mutation_p.Q110H|LMO3_ENST00000535535.1_Missense_Mutation_p.Q110H|LMO3_ENST00000541295.1_Missense_Mutation_p.Q128H|LMO3_ENST00000441439.2_Missense_Mutation_p.Q110H|LMO3_ENST00000537304.1_Missense_Mutation_p.Q110H|LMO3_ENST00000541846.1_Missense_Mutation_p.Q110H|LMO3_ENST00000447609.1_Missense_Mutation_p.Q110H	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	110	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CTGCTTACCTCTGATTACAAA	0.418																																						ENST00000320122.6																			0				endometrium(2)|large_intestine(2)|skin(1)	5						c.(328-330)caG>caT		LIM domain only 3 (rhombotin-like 2)							125.0	113.0	117.0					12																	16713349		2203	4300	6503	SO:0001583	missense	55885				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding	g.chr12:16713349C>A	BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.330G>T	12.37:g.16713349C>A	ENSP00000312856:p.Gln110His					LMO3_ENST00000534946.1_Missense_Mutation_p.Q110H|LMO3_ENST00000540848.1_Missense_Mutation_p.Q110H|LMO3_ENST00000447609.1_Missense_Mutation_p.Q110H|LMO3_ENST00000441439.2_Missense_Mutation_p.Q110H|LMO3_ENST00000354662.1_Missense_Mutation_p.Q110H|LMO3_ENST00000261169.6_Missense_Mutation_p.Q121H|LMO3_ENST00000541846.1_Missense_Mutation_p.Q110H|LMO3_ENST00000535535.1_Missense_Mutation_p.Q110H|LMO3_ENST00000541295.1_Missense_Mutation_p.Q128H|LMO3_ENST00000540445.1_Missense_Mutation_p.Q132H|LMO3_ENST00000537304.1_Missense_Mutation_p.Q110H	p.Q110H	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN			3	852	-		Hepatocellular(102;0.244)	110			LIM zinc-binding 2.		B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	ENST00000320122.6	37	c.330G>T	CCDS8678.1	.	.	.	.	.	.	.	.	.	.	C	7.635	0.679762	0.14907	.	.	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000542544;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000540445;ENST00000541846;ENST00000539534;ENST00000546281;ENST00000537757;ENST00000546279	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	4.58	2.58	0.30949	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.76615	0.4012	N	0.24115	0.695	0.50039	D	0.999848	B;B;B;B	0.17852	0.024;0.001;0.001;0.004	B;B;B;B	0.24006	0.05;0.009;0.009;0.009	T	0.67845	-0.5565	10	0.24483	T	0.36	.	9.5497	0.39301	0.0:0.8078:0.0:0.1922	.	132;128;110;121	B4DH35;B4DG90;Q8TAP4;Q58A67	.;.;LMO3_HUMAN;.	H	110;110;110;110;121;90;110;110;110;128;110;132;110;110;110;110;110	ENSP00000346689:Q110H;ENSP00000412479:Q110H;ENSP00000413703:Q110H;ENSP00000312856:Q110H;ENSP00000261169:Q121H;ENSP00000445751:Q110H;ENSP00000446115:Q110H;ENSP00000440099:Q110H;ENSP00000446463:Q128H;ENSP00000439275:Q110H;ENSP00000442786:Q132H;ENSP00000444393:Q110H;ENSP00000443807:Q110H;ENSP00000442713:Q110H;ENSP00000445193:Q110H;ENSP00000441360:Q110H	ENSP00000261169:Q121H	Q	-	3	2	LMO3	16604616	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.122000	0.41987	1.144000	0.42321	0.591000	0.81541	CAG		0.418	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401279.1	NM_018640		4	89	1	0	4.096e-09	1	4.34589e-09	4	89				
CXXC1	30827	broad.mit.edu	37	18	47811132	47811132	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:47811132C>T	ENST00000285106.6	-	8	1704	c.990G>A	c.(988-990)gtG>gtA	p.V330V	MBD1_ENST00000382948.5_5'Flank|CXXC1_ENST00000412036.2_Silent_p.V330V|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|CXXC1_ENST00000589940.1_Silent_p.V330V|MBD1_ENST00000347968.3_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	330	Arg/Lys-rich (basic).				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						cccGACGCTTCACATGCTTCA	0.582																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(988-990)gtG>gtA		CXXC finger protein 1							179.0	146.0	157.0					18																	47811132		2203	4300	6503	SO:0001819	synonymous_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47811132C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.990G>A	18.37:g.47811132C>T						CXXC1_ENST00000589940.1_Silent_p.V330V|CXXC1_ENST00000412036.2_Silent_p.V330V	p.V330V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			8	1704	-			330			Arg/Lys-rich (basic).		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	c.990G>A	CCDS11945.1																																																																																				0.582	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		9	22	0	0	0	1	0	9	22				
BTAF1	9044	broad.mit.edu	37	10	93773781	93773781	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:93773781C>T	ENST00000265990.6	+	32	4887	c.4579C>T	c.(4579-4581)Ctc>Ttc	p.L1527F	BTAF1_ENST00000544642.1_Missense_Mutation_p.L355F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1527					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCTTAGTCCTCTCCAGGTTAG	0.363																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(4579-4581)Ctc>Ttc		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							138.0	151.0	147.0					10																	93773781		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93773781C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4579C>T	10.37:g.93773781C>T	ENSP00000265990:p.Leu1527Phe					BTAF1_ENST00000544642.1_Missense_Mutation_p.L355F	p.L1527F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			32	4887	+		Colorectal(252;0.0846)	1527					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.4579C>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135768	0.56828	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	D;D	0.93307	-3.2;-3.2	5.8	4.9	0.64082	SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.95465	0.8527	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94438	0.7656	10	0.51188	T	0.08	-4.9613	9.9186	0.41450	0.0:0.8003:0.0:0.1997	.	1527	O14981	BTAF1_HUMAN	F	1527;355;377	ENSP00000265990:L1527F;ENSP00000439924:L355F	ENSP00000265990:L1527F	L	+	1	0	BTAF1	93763761	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	2.150000	0.42254	2.764000	0.94973	0.644000	0.83932	CTC		0.363	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		18	102	0	0	0	1	0	18	102				
CDYL	9425	broad.mit.edu	37	6	4891958	4891958	+	Silent	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:4891958T>C	ENST00000328908.5	+	4	329	c.198T>C	c.(196-198)atT>atC	p.I66I	CDYL_ENST00000397588.3_Silent_p.I12I|CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	66	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTGAAAGGATTGTTGACAAAA	0.378																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(196-198)atT>atC		chromodomain protein, Y-like							32.0	32.0	32.0					6																	4891958		2203	4300	6503	SO:0001819	synonymous_variant	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4891958T>C	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.198T>C	6.37:g.4891958T>C						CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Silent_p.I12I	p.I66I			Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	4	329	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	66			Chromo.		A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37	c.198T>C																																																																																					0.378	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		24	38	0	0	0	1	0	24	38				
BTBD8	284697	broad.mit.edu	37	1	92612785	92612785	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:92612785C>T	ENST00000342818.3	+	8	1215	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	327						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GATTATTGCTCATTCAGTTGG	0.338																																						ENST00000342818.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(979-981)Cat>Tat		BTB (POZ) domain containing 8							173.0	170.0	171.0					1																	92612785		2203	4300	6503	SO:0001583	missense	284697					nucleus		g.chr1:92612785C>T	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.979C>T	1.37:g.92612785C>T	ENSP00000343686:p.His327Tyr					BTBD8_ENST00000540648.1_3'UTR	p.H327Y	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	8	1215	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	327					Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	c.979C>T	CCDS737.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029586	0.35797	.	.	ENSG00000189195	ENST00000342818	T	0.64618	-0.11	5.49	4.57	0.56435	.	0.098587	0.44902	D	0.000408	T	0.36690	0.0976	L	0.31926	0.97	0.80722	D	1	P	0.39480	0.675	B	0.35413	0.202	T	0.43605	-0.9381	10	0.48119	T	0.1	-11.8867	13.0088	0.58720	0.0:0.9206:0.0:0.0794	.	327	Q5XKL5	BTBD8_HUMAN	Y	327	ENSP00000343686:H327Y	ENSP00000343686:H327Y	H	+	1	0	BTBD8	92385373	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.769000	0.47654	2.753000	0.94483	0.557000	0.71058	CAT		0.338	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		15	60	0	0	0	1	0	15	60				
KBTBD7	84078	broad.mit.edu	37	13	41767771	41767771	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr13:41767771G>A	ENST00000379483.3	-	1	931	c.623C>T	c.(622-624)tCa>tTa	p.S208L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	208										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CTCCCGAATTGAACCCATTCG	0.542																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(622-624)tCa>tTa		kelch repeat and BTB (POZ) domain containing 7							110.0	101.0	104.0					13																	41767771		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41767771G>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.623C>T	13.37:g.41767771G>A	ENSP00000368797:p.Ser208Leu						p.S208L	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	931	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	208					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.623C>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	4.250	0.045319	0.08196	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.74947	-0.89	5.1	5.1	0.69264	BTB/Kelch-associated (2);	0.258326	0.20372	N	0.093621	T	0.59307	0.2184	N	0.08118	0	0.09310	N	1	B	0.27625	0.183	B	0.28916	0.096	T	0.59695	-0.7406	10	0.72032	D	0.01	.	16.0251	0.80538	0.0:0.0:1.0:0.0	.	208	Q8WVZ9	KBTB7_HUMAN	L	208;110	ENSP00000368797:S208L	ENSP00000368797:S208L	S	-	2	0	KBTBD7	40665771	0.836000	0.29430	0.163000	0.22734	0.286000	0.27126	4.814000	0.62627	2.364000	0.80123	0.563000	0.77884	TCA		0.542	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		26	88	0	0	0	1	0	26	88				
RPGRIP1L	23322	broad.mit.edu	37	16	53726170	53726170	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr16:53726170C>T	ENST00000379925.3	-	4	387	c.337G>A	c.(337-339)Gag>Aag	p.E113K	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E113K|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.E113K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E113K	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	113					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGCAGCTGCTCAATCATTTCT	0.448																																						ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(337-339)Gag>Aag		RPGRIP1-like							232.0	231.0	231.0					16																	53726170		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53726170C>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.337G>A	16.37:g.53726170C>T	ENSP00000369257:p.Glu113Lys					RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E113K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E113K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E113K	p.E113K	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			4	430	-		all_cancers(37;0.0973)	113					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.337G>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480421	0.84747	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.78707	-1.2;-1.2	5.83	5.83	0.93111	.	0.048378	0.85682	D	0.000000	D	0.88644	0.6492	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.67145	0.991;0.973;0.973;0.996	D;P;P;D	0.74348	0.911;0.872;0.872;0.983	D	0.87654	0.2530	10	0.48119	T	0.1	-17.7053	20.1374	0.98035	0.0:1.0:0.0:0.0	.	113;113;113;113	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	K	113	ENSP00000369257:E113K;ENSP00000262135:E113K	ENSP00000262135:E113K	E	-	1	0	RPGRIP1L	52283671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.940000	0.75917	2.763000	0.94921	0.563000	0.77884	GAG		0.448	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		47	163	0	0	0	1	0	47	163				
PTPRD	5789	broad.mit.edu	37	9	8460493	8460493	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr9:8460493C>A	ENST00000381196.4	-	30	4336	c.3793G>T	c.(3793-3795)Gaa>Taa	p.E1265*	PTPRD_ENST00000356435.5_Nonsense_Mutation_p.E1265*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.E851*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.E844*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.E851*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.E1265*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.E854*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.E1243*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.E1252*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.E844*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.E854*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1265					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATCAAGCCTTCTTCTTCATCC	0.453										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3793-3795)Gaa>Taa		protein tyrosine phosphatase, receptor type, D							169.0	148.0	155.0					9																	8460493		2203	4300	6503	SO:0001587	stop_gained	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8460493C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3793G>T	9.37:g.8460493C>A	ENSP00000370593:p.Glu1265*	TSP Lung(15;0.13)				PTPRD_ENST00000360074.4_Nonsense_Mutation_p.E1252*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.E1265*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.E851*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.E1243*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.E854*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.E1265*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.E854*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.E844*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.E851*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.E844*	p.E1265*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	30	4336	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1265					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	ENST00000381196.4	37	c.3793G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	42	9.627803	0.99223	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8827	0.96904	0.0:1.0:0.0:0.0	.	.	.	.	X	1265;1265;1252;1243;854;844;851;851;736;1265;854;844	.	.	E	-	1	0	PTPRD	8450493	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.463000	0.80869	2.793000	0.96121	0.563000	0.77884	GAA		0.453	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			26	78	1	0	1.42536e-11	1	1.53264e-11	26	78				
DPYSL4	10570	broad.mit.edu	37	10	134006300	134006300	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:134006300C>G	ENST00000338492.4	+	3	431	c.267C>G	c.(265-267)ttC>ttG	p.F89L	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.F12L|DPYSL4_ENST00000368629.1_Missense_Mutation_p.F12L	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	89					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CTGACGACTTCTGTCAGGGCA	0.622																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(265-267)ttC>ttG		dihydropyrimidinase-like 4							111.0	81.0	91.0					10																	134006300		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134006300C>G	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.267C>G	10.37:g.134006300C>G	ENSP00000339850:p.Phe89Leu					DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.F12L|DPYSL4_ENST00000368629.1_Missense_Mutation_p.F12L	p.F89L	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	3	431	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	89					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.267C>G	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123325	0.77436	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.90197	-2.46;-2.63;-2.63	4.92	4.02	0.46733	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.95182	0.8438	M	0.88842	2.985	0.58432	D	0.999992	D	0.89917	1.0	D	0.85130	0.997	D	0.94986	0.8130	10	0.87932	D	0	-9.8659	9.3184	0.37948	0.0:0.8368:0.0:0.1632	.	89	O14531	DPYL4_HUMAN	L	89;12;12	ENSP00000339850:F89L;ENSP00000357618:F12L;ENSP00000357616:F12L	ENSP00000339850:F89L	F	+	3	2	DPYSL4	133856290	0.993000	0.37304	0.978000	0.43139	0.750000	0.42670	1.291000	0.33330	1.309000	0.44985	0.650000	0.86243	TTC		0.622	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			20	54	0	0	0	1	0	20	54				
DOCK8	81704	broad.mit.edu	37	9	304659	304659	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr9:304659G>A	ENST00000453981.1	+	5	595	c.483G>A	c.(481-483)caG>caA	p.Q161Q	DOCK8_ENST00000469391.1_Silent_p.Q93Q|DOCK8_ENST00000432829.2_Silent_p.Q93Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	161					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTCCGAAACAGACGTTTGAGT	0.443																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(277-279)caG>caA		dedicator of cytokinesis 8							135.0	145.0	141.0					9																	304659		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:304659G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.483G>A	9.37:g.304659G>A						DOCK8_ENST00000453981.1_Silent_p.Q161Q|DOCK8_ENST00000469391.1_Silent_p.Q93Q	p.Q93Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	5	595	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	161					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.279G>A	CCDS6440.2																																																																																				0.443	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		10	194	0	0	0	1	0	10	194				
DEFB114	245928	broad.mit.edu	37	6	49928037	49928037	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:49928037C>G	ENST00000322066.3	-	2	177	c.178G>C	c.(178-180)Gag>Cag	p.E60Q		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	60					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TACAATTTCTCAGTGCAGCAA	0.378																																						ENST00000322066.3																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(178-180)Gag>Cag		defensin, beta 114							104.0	95.0	98.0					6																	49928037		2203	4299	6502	SO:0001583	missense	245928				defense response to bacterium	extracellular region		g.chr6:49928037C>G	DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"""Defensins, beta"""	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.178G>C	6.37:g.49928037C>G	ENSP00000312702:p.Glu60Gln						p.E60Q	NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN			2	177	-	Lung NSC(77;0.042)		60					Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	c.178G>C	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	C	5.652	0.304989	0.10678	.	.	ENSG00000177684	ENST00000322066	.	.	.	3.55	1.77	0.24775	.	0.851711	0.09795	N	0.754850	T	0.09379	0.0231	.	.	.	0.09310	N	1	P	0.40476	0.718	B	0.36885	0.235	T	0.15578	-1.0432	7	.	.	.	-1.2128	5.8912	0.18915	0.0:0.7578:0.0:0.2422	.	60	Q30KQ6	DB114_HUMAN	Q	60	.	.	E	-	1	0	DEFB114	50035996	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.198000	0.17217	0.502000	0.28037	-0.142000	0.14014	GAG		0.378	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499		6	20	0	0	0	1	0	6	20				
MYH8	4626	broad.mit.edu	37	17	10303815	10303815	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:10303815C>G	ENST00000403437.2	-	27	3721	c.3627G>C	c.(3625-3627)caG>caC	p.Q1209H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1209					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTTGTCAATCTGCTCCCCAA	0.552									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3625-3627)caG>caC		myosin, heavy chain 8, skeletal muscle, perinatal							112.0	99.0	103.0					17																	10303815		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10303815C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3627G>C	17.37:g.10303815C>G	ENSP00000384330:p.Gln1209His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.Q1209H	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			27	3721	-			1209					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3627G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169550	0.57584	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.81739	-1.53	5.35	3.25	0.37280	Myosin tail (1);	0.000000	0.39615	U	0.001319	D	0.88676	0.6501	M	0.83774	2.66	0.44380	D	0.99728	D	0.89917	1.0	D	0.83275	0.996	D	0.89058	0.3460	10	0.56958	D	0.05	.	10.8887	0.46984	0.0:0.7853:0.0:0.2147	.	1209	P13535	MYH8_HUMAN	H	1209	ENSP00000384330:Q1209H	ENSP00000252173:Q1209H	Q	-	3	2	MYH8	10244540	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.846000	0.39289	1.496000	0.48567	0.655000	0.94253	CAG		0.552	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		20	80	0	0	0	1	0	20	80				
GRWD1	83743	broad.mit.edu	37	19	48950050	48950050	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:48950050C>G	ENST00000253237.5	+	3	651	c.418C>G	c.(418-420)Cag>Gag	p.Q140E		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	140						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCGGAAACCTCAGCTGGAGCT	0.542																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(418-420)Cag>Gag		glutamate-rich WD repeat containing 1							123.0	90.0	102.0					19																	48950050		2203	4300	6503	SO:0001583	missense	83743					nucleolus		g.chr19:48950050C>G	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.418C>G	19.37:g.48950050C>G	ENSP00000253237:p.Gln140Glu						p.Q140E	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	3	651	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	140					Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.418C>G	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	c	8.652	0.898393	0.17686	.	.	ENSG00000105447	ENST00000253237	T	0.01295	5.04	3.72	3.72	0.42706	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.217596	0.43110	D	0.000615	T	0.01730	0.0055	L	0.49455	1.56	0.58432	D	0.999995	B	0.06786	0.001	B	0.09377	0.004	T	0.38200	-0.9672	10	0.02654	T	1	-17.8444	14.756	0.69564	0.0:1.0:0.0:0.0	.	140	Q9BQ67	GRWD1_HUMAN	E	140	ENSP00000253237:Q140E	ENSP00000253237:Q140E	Q	+	1	0	GRWD1	53641862	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	3.694000	0.54742	2.086000	0.62901	0.556000	0.70494	CAG		0.542	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		28	43	0	0	0	1	0	28	43				
TBC1D8B	54885	broad.mit.edu	37	X	106093309	106093309	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrX:106093309A>T	ENST00000357242.5	+	12	2066	c.1892A>T	c.(1891-1893)cAg>cTg	p.Q631L	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Q625L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	631	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACCTTCCTCAGCTGACAGAA	0.378																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1891-1893)cAg>cTg		TBC1 domain family, member 8B (with GRAM domain)							205.0	163.0	177.0					X																	106093309		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106093309A>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1892A>T	X.37:g.106093309A>T	ENSP00000349781:p.Gln631Leu					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Q625L	p.Q631L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			12	2066	+			631			Rab-GAP TBC.		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1892A>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300511	0.40694	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.04551	3.6;3.6	4.9	4.9	0.64082	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.04048	0.0113	L	0.27053	0.805	0.46298	D	0.998971	B	0.19073	0.033	B	0.20577	0.03	T	0.46569	-0.9182	10	0.31617	T	0.26	-9.6646	8.3028	0.32025	0.8213:0.0:0.0:0.1787	.	631	Q0IIM8	TBC8B_HUMAN	L	631;625	ENSP00000349781:Q631L;ENSP00000276175:Q625L	ENSP00000276175:Q625L	Q	+	2	0	TBC1D8B	105979965	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.801000	0.62532	1.722000	0.51474	0.481000	0.45027	CAG		0.378	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		18	23	0	0	0	1	0	18	23				
ZNF750	79755	broad.mit.edu	37	17	80789586	80789586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:80789586C>A	ENST00000269394.3	-	2	1578	c.745G>T	c.(745-747)Gag>Tag	p.E249*	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	249					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCCCGTGCTCTGTGTAAAAG	0.567																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(745-747)Gag>Tag		zinc finger protein 750							58.0	63.0	61.0					17																	80789586		2203	4300	6503	SO:0001587	stop_gained	79755					intracellular	zinc ion binding	g.chr17:80789586C>A	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.745G>T	17.37:g.80789586C>A	ENSP00000269394:p.Glu249*					TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	p.E249*	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1578	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	249					Q9H899	Nonsense_Mutation	SNP	ENST00000269394.3	37	c.745G>T	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	42	9.373690	0.99151	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.77	4.8	0.61643	.	0.157233	0.43110	D	0.000606	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-44.3189	12.4501	0.55673	0.0:0.9188:0.0:0.0812	.	.	.	.	X	249	.	.	E	-	1	0	ZNF750	78382875	0.998000	0.40836	0.311000	0.25182	0.246000	0.25737	6.790000	0.75115	1.447000	0.47661	0.655000	0.94253	GAG		0.567	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		53	52	1	0	1.48341e-19	1	1.62121e-19	53	52				
SIX5	147912	broad.mit.edu	37	19	46269022	46269022	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:46269022C>G	ENST00000317578.6	-	3	2338	c.1957G>C	c.(1957-1959)Gag>Cag	p.E653Q	AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000592217.2_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	653					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		ATCAGCCCCTCTGGTGGGGGC	0.692																																						ENST00000317578.6																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1957-1959)Gag>Cag		SIX homeobox 5							22.0	28.0	26.0					19																	46269022		2193	4285	6478	SO:0001583	missense	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46269022C>G	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1957G>C	19.37:g.46269022C>G	ENSP00000316842:p.Glu653Gln					AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	p.E653Q	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	3	2338	-		Ovarian(192;0.0308)|all_neural(266;0.112)	653						Missense_Mutation	SNP	ENST00000317578.6	37	c.1957G>C	CCDS12673.1	.	.	.	.	.	.	.	.	.	.	c	13.70	2.315044	0.40996	.	.	ENSG00000177045	ENST00000317578	D	0.90955	-2.76	3.34	3.34	0.38264	.	1.114600	0.06677	N	0.767337	D	0.82879	0.5133	N	0.14661	0.345	0.22796	N	0.998722	P	0.49185	0.92	B	0.41036	0.346	T	0.73572	-0.3940	10	0.32370	T	0.25	-7.9112	10.4424	0.44472	0.0:1.0:0.0:0.0	.	653	Q8N196	SIX5_HUMAN	Q	653	ENSP00000316842:E653Q	ENSP00000316842:E653Q	E	-	1	0	SIX5	50960862	0.446000	0.25665	0.861000	0.33841	0.458000	0.32498	0.299000	0.19138	2.170000	0.68504	0.555000	0.69702	GAG		0.692	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		7	81	0	0	0	1	0	7	81				
KIAA0226	9711	broad.mit.edu	37	3	197427940	197427940	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:197427940C>G	ENST00000296343.5	-	7	804	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	KIAA0226_ENST00000389665.5_Missense_Mutation_p.E269Q|KIAA0226_ENST00000273582.5_Missense_Mutation_p.E209Q|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000449205.1_Missense_Mutation_p.E269Q	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	269	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTTTGATCCTCTGCTGGTGAG	0.512																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(625-627)Gag>Cag		KIAA0226							55.0	58.0	57.0					3																	197427940		1904	4131	6035	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427940C>G	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.805G>C	3.37:g.197427940C>G	ENSP00000296343:p.Glu269Gln					KIAA0226_ENST00000389665.5_Missense_Mutation_p.E269Q|KIAA0226_ENST00000296343.5_Missense_Mutation_p.E269Q|KIAA0226_ENST00000449205.1_Missense_Mutation_p.E269Q	p.E209Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1170	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		269			Ser-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.625G>C	CCDS43195.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	3.454|3.454|3.454	-0.111437|-0.111437|-0.111437	0.06881|0.06881|0.06881	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205|ENST00000415452|ENST00000413360	.|.|.	.|.|.	.|.|.	5.85|5.85|5.85	2.93|2.93|2.93	0.34026|0.34026|0.34026	.|.|.	0.281688|.|.	0.34700|.|.	N|.|.	0.003748|.|.	T|T|T	0.18800|0.18800|0.18800	0.0451|0.0451|0.0451	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;B;B;B|.|.	0.14012|.|.	0.009;0.0;0.006;0.009|.|.	B;B;B;B|.|.	0.16722|.|.	0.007;0.004;0.016;0.002|.|.	T|T|T	0.23297|0.23297|0.23297	-1.0192|-1.0192|-1.0192	9|5|5	0.14252|.|.	T|.|.	0.57|.|.	.|.|.	8.893|8.893|8.893	0.35446|0.35446|0.35446	0.0:0.6415:0.2829:0.0755|0.0:0.6415:0.2829:0.0755|0.0:0.6415:0.2829:0.0755	.|.|.	269;102;209;269|.|.	E9PEM3;Q5HYI6;Q92622-2;Q92622|.|.	.;.;.;RUBIC_HUMAN|.|.	Q|H|T	209;269;269;269|27|247	.|.|.	ENSP00000273582:E209Q|.|.	E|Q|R	-|-|-	1|3|2	0|2|0	KIAA0226|KIAA0226|KIAA0226	198912337|198912337|198912337	0.835000|0.835000|0.835000	0.29415|0.29415|0.29415	0.185000|0.185000|0.185000	0.23176|0.23176|0.23176	0.059000|0.059000|0.059000	0.15707|0.15707|0.15707	1.903000|1.903000|1.903000	0.39858|0.39858|0.39858	0.799000|0.799000|0.799000	0.34018|0.34018|0.34018	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|CAG|AGA		0.512	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		4	123	0	0	0	1	0	4	123				
MAGI2	9863	broad.mit.edu	37	7	77755125	77755125	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:77755125C>T	ENST00000354212.4	-	20	3706	c.3453G>A	c.(3451-3453)gaG>gaA	p.E1151E	MAGI2_ENST00000522391.1_Silent_p.E1151E|MAGI2_ENST00000419488.1_Silent_p.E1137E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1151	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGCTCCTTTCTCCATGTCCA	0.403																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3451-3453)gaG>gaA		membrane associated guanylate kinase, WW and PDZ domain containing 2							116.0	105.0	109.0					7																	77755125		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77755125C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3453G>A	7.37:g.77755125C>T						MAGI2_ENST00000522391.1_Silent_p.E1151E|MAGI2_ENST00000419488.1_Silent_p.E1137E	p.E1151E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			20	3706	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1151			PDZ 6.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.3453G>A	CCDS5594.1																																																																																				0.403	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		12	39	0	0	0	1	0	12	39				
CYFIP1	23191	broad.mit.edu	37	15	22929869	22929869	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr15:22929869G>A	ENST00000313077.7	+	6	668	c.543G>A	c.(541-543)gtG>gtA	p.V181V	CYFIP1_ENST00000560848.1_Silent_p.V181V	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTGCAGTGTGAAGAACGACC	0.577																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(541-543)gtG>gtA		cytoplasmic FMR1 interacting protein 1							130.0	98.0	109.0					15																	22929869		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22929869G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.543G>A	15.37:g.22929869G>A						CYFIP1_ENST00000560848.1_Silent_p.V181V	p.V181V	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	6	668	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	181						Silent	SNP	ENST00000313077.7	37	c.543G>A	CCDS10009.1																																																																																				0.577	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		10	55	0	0	0	1	0	10	55				
ATAD2	29028	broad.mit.edu	37	8	124371872	124371872	+	Missense_Mutation	SNP	C	C	T	rs528861654		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr8:124371872C>T	ENST00000287394.5	-	10	1318	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	404					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AATTTTCATTCGATCTTTATA	0.353																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1210-1212)cGa>cAa		ATPase family, AAA domain containing 2							104.0	95.0	98.0					8																	124371872		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124371872C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1211G>A	8.37:g.124371872C>T	ENSP00000287394:p.Arg404Gln					ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR	p.R404Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		10	1318	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		404					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.1211G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112759	0.94339	.	.	ENSG00000156802	ENST00000287394	D	0.93133	-3.17	5.33	5.33	0.75918	.	0.273612	0.31897	N	0.006892	D	0.93641	0.7969	N	0.21508	0.67	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.70935	0.606;0.971	D	0.94252	0.7494	10	0.54805	T	0.06	-3.6835	16.0553	0.80798	0.0:0.8659:0.1341:0.0	.	234;404	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	Q	404	ENSP00000287394:R404Q	ENSP00000287394:R404Q	R	-	2	0	ATAD2	124441053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.022000	0.70839	2.490000	0.84030	0.491000	0.48974	CGA		0.353	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		7	36	0	0	0	1	0	7	36				
SERTAD2	9792	broad.mit.edu	37	2	64863799	64863799	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:64863799C>G	ENST00000313349.3	-	2	504	c.207G>C	c.(205-207)ttG>ttC	p.L69F	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	69	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GGATCCGCCTCAACATGTTGT	0.542																																						ENST00000313349.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(205-207)ttG>ttC		SERTA domain containing 2							113.0	116.0	115.0					2																	64863799		2203	4300	6503	SO:0001583	missense	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863799C>G	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.207G>C	2.37:g.64863799C>G	ENSP00000326933:p.Leu69Phe					SERTAD2_ENST00000476805.1_5'UTR	p.L69F	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN			2	504	-			69			SERTA.		Q53TS2	Missense_Mutation	SNP	ENST00000313349.3	37	c.207G>C	CCDS33210.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881445	0.51801	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.83	3.94	0.45596	.	0.000000	0.64402	D	0.000001	T	0.74245	0.3691	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.77851	-0.2434	9	0.66056	D	0.02	-10.1476	16.4664	0.84080	0.0:0.7534:0.2466:0.0	.	69	Q14140	SRTD2_HUMAN	F	69	.	ENSP00000326933:L69F	L	-	3	2	SERTAD2	64717303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.331000	0.43894	1.439000	0.47511	0.655000	0.94253	TTG		0.542	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		18	86	0	0	0	1	0	18	86				
DSN1	79980	broad.mit.edu	37	20	35381261	35381261	+	Missense_Mutation	SNP	C	C	T	rs143517734		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:35381261C>T	ENST00000426836.1	-	11	1373	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	DSN1_ENST00000373740.3_Missense_Mutation_p.R262Q|DSN1_ENST00000373750.4_Missense_Mutation_p.R334Q|DSN1_ENST00000373745.3_Missense_Mutation_p.R334Q|DSN1_ENST00000373734.4_Missense_Mutation_p.R227Q|DSN1_ENST00000448110.2_Missense_Mutation_p.R318Q|DSN1_ENST00000473615.1_5'UTR	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	334					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				CAACAGTTTTCGAGCTGGTGA	0.408																																						ENST00000426836.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1000-1002)cGa>cAa		DSN1, MIS12 kinetochore complex component							195.0	163.0	174.0					20																	35381261		2203	4300	6503	SO:0001583	missense	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35381261C>T	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.1001G>A	20.37:g.35381261C>T	ENSP00000389810:p.Arg334Gln					DSN1_ENST00000448110.1_Missense_Mutation_p.R318Q|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373745.3_Missense_Mutation_p.R334Q|DSN1_ENST00000373740.3_Missense_Mutation_p.R262Q|DSN1_ENST00000373750.4_Missense_Mutation_p.R334Q|DSN1_ENST00000373734.4_Missense_Mutation_p.R227Q	p.R334Q	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN			11	1373	-		Myeloproliferative disorder(115;0.00874)	334					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	c.1001G>A	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013164	0.93346	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734	.	.	.	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000026	T	0.68284	0.2984	L	0.36672	1.1	0.40686	D	0.982358	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70718	-0.4795	9	0.87932	D	0	-9.1993	15.6773	0.77338	0.0:1.0:0.0:0.0	.	227;334	Q5JW55;Q9H410	.;DSN1_HUMAN	Q	334;334;318;267;334;262;227	.	ENSP00000362838:R267Q	R	-	2	0	DSN1	34814675	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.549000	0.53681	2.778000	0.95560	0.655000	0.94253	CGA		0.408	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		15	89	0	0	0	1	0	15	89				
PDZD2	23037	broad.mit.edu	37	5	32089962	32089962	+	Silent	SNP	C	C	T	rs576489739		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:32089962C>T	ENST00000438447.1	+	20	6796	c.6408C>T	c.(6406-6408)gtC>gtT	p.V2136V	PDZD2_ENST00000282493.3_Silent_p.V2136V			O15018	PDZD2_HUMAN	PDZ domain containing 2	2136					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ATCGCCAGGTCGCAGAATCAT	0.542																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6406-6408)gtC>gtT		PDZ domain containing 2							99.0	97.0	97.0					5																	32089962		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089962C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6408C>T	5.37:g.32089962C>T						PDZD2_ENST00000282493.3_Silent_p.V2136V	p.V2136V			O15018	PDZD2_HUMAN			20	6796	+			2136					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.6408C>T	CCDS34137.1																																																																																				0.542	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			23	92	0	0	0	1	0	23	92				
SLC25A44	9673	broad.mit.edu	37	1	156180047	156180047	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:156180047C>T	ENST00000359511.4	+	4	942	c.770C>T	c.(769-771)tCc>tTc	p.S257F	PMF1_ENST00000368273.4_5'Flank|PMF1_ENST00000565805.1_5'Flank|PMF1-BGLAP_ENST00000368276.4_5'Flank|PMF1-BGLAP_ENST00000490491.1_5'Flank|PMF1_ENST00000567140.1_5'Flank|PMF1_ENST00000368277.3_5'Flank|SLC25A44_ENST00000469537.1_3'UTR|PMF1-BGLAP_ENST00000320139.5_5'Flank|PMF1_ENST00000368279.3_5'Flank|SLC25A44_ENST00000423538.2_Missense_Mutation_p.S234F	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	257					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GGCAAGAACTCCATCATCCTG	0.547																																						ENST00000359511.4																			0				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(769-771)tCc>tTc		solute carrier family 25, member 44							194.0	180.0	185.0					1																	156180047		2203	4300	6503	SO:0001583	missense	9673				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr1:156180047C>T	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.770C>T	1.37:g.156180047C>T	ENSP00000352497:p.Ser257Phe					SLC25A44_ENST00000423538.2_Missense_Mutation_p.S234F|SLC25A44_ENST00000469537.1_3'UTR	p.S257F	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN			4	942	+	Hepatocellular(266;0.158)		257					O75034	Missense_Mutation	SNP	ENST00000359511.4	37	c.770C>T	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799592	0.90538	.	.	ENSG00000160785	ENST00000359511;ENST00000423538	T;T	0.81247	-1.47;-1.47	4.8	4.8	0.61643	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	H	0.96111	3.77	0.80722	D	1	D;D;D	0.71674	0.988;0.998;0.99	P;D;D	0.71414	0.824;0.973;0.951	D	0.93944	0.7226	10	0.87932	D	0	0.0353	15.4315	0.75102	0.0:1.0:0.0:0.0	.	234;234;257	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	F	257;234	ENSP00000352497:S257F;ENSP00000407560:S234F	ENSP00000352497:S257F	S	+	2	0	SLC25A44	154446671	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.434000	0.80377	2.495000	0.84180	0.655000	0.94253	TCC		0.547	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		36	62	0	0	0	1	0	36	62				
PDZRN4	29951	broad.mit.edu	37	12	41903701	41903701	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr12:41903701G>A	ENST00000402685.2	+	5	1197	c.1189G>A	c.(1189-1191)Gac>Aac	p.D397N	PDZRN4_ENST00000298919.7_Missense_Mutation_p.D137N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.D139N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	397							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)				CAGAACAGAAGACTTTGAATA	0.373																																						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.(409-411)Gac>Aac		PDZ domain containing ring finger 4							157.0	153.0	154.0					12																	41903701		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41903701G>A	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.1189G>A	12.37:g.41903701G>A	ENSP00000384197:p.Asp397Asn					PDZRN4_ENST00000402685.2_Missense_Mutation_p.D397N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.D139N	p.D137N			Q6ZMN7	PZRN4_HUMAN			5	797	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	397			Gly-rich.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.409G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028217	0.75390	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72282	-0.64;3.81;3.81	5.07	5.07	0.68467	PDZ/DHR/GLGF (1);	0.143577	0.47455	D	0.000234	T	0.76176	0.3951	L	0.43152	1.355	0.80722	D	1	D;P;B	0.60575	0.988;0.876;0.109	P;P;B	0.57204	0.815;0.759;0.157	T	0.73773	-0.3877	10	0.35671	T	0.21	-44.701	19.3581	0.94422	0.0:0.0:1.0:0.0	.	397;137;139	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	397;139;137	ENSP00000384197:D397N;ENSP00000439990:D139N;ENSP00000298919:D137N	ENSP00000298919:D137N	D	+	1	0	PDZRN4	40189968	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.277000	0.72608	2.741000	0.93983	0.650000	0.86243	GAC		0.373	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		10	56	0	0	0	1	0	10	56				
DPP10	57628	broad.mit.edu	37	2	116593750	116593750	+	Silent	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:116593750T>C	ENST00000410059.1	+	22	2448	c.1968T>C	c.(1966-1968)atT>atC	p.I656I	DPP10_ENST00000310323.8_Silent_p.I649I|DPP10_ENST00000393147.2_Silent_p.I660I|DPP10_ENST00000409163.1_Silent_p.I606I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	656						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						GTGGCTATATTGCATCAATGA	0.333																																						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.(1966-1968)atT>atC		dipeptidyl-peptidase 10 (non-functional)							72.0	70.0	71.0					2																	116593750		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116593750T>C	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.1968T>C	2.37:g.116593750T>C						DPP10_ENST00000409163.1_Silent_p.I606I|DPP10_ENST00000310323.8_Silent_p.I649I|DPP10_ENST00000393147.2_Silent_p.I660I	p.I656I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			22	2448	+			656					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.1968T>C	CCDS46400.1																																																																																				0.333	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		10	27	0	0	0	1	0	10	27				
EP300	2033	broad.mit.edu	37	22	41572777	41572777	+	Splice_Site	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr22:41572777G>C	ENST00000263253.7	+	31	6281	c.5062G>C	c.(5062-5064)Gat>Cat	p.D1688H	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1688	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTTCCCTAGGATTATGACTT	0.403			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.e31-1		E1A binding protein p300							133.0	128.0	130.0					22																	41572777		2203	4300	6503	SO:0001630	splice_region_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41572777G>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5062-1G>C	22.37:g.41572777G>C						RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.D1688_splice	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	6281	+			1688			Binding region for E1A adenovirus.		B1AKC2	Splice_Site	SNP	ENST00000263253.7	37	c.5061_splice	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862846	0.51482	.	.	ENSG00000100393	ENST00000263253	D	0.94687	-3.49	5.32	5.32	0.75619	Zinc finger, ZZ-type (4);	0.000000	0.49916	D	0.000130	D	0.98457	0.9486	H	0.97682	4.055	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99482	1.0948	9	.	.	.	-9.3634	19.3656	0.94460	0.0:0.0:1.0:0.0	.	1688	Q09472	EP300_HUMAN	H	1688	ENSP00000263253:D1688H	.	D	+	1	0	EP300	39902723	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	9.869000	0.99810	2.645000	0.89757	0.557000	0.71058	GAT		0.403	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Missense_Mutation	32	100	0	0	0	1	0	32	100				
CCDC89	220388	broad.mit.edu	37	11	85396555	85396555	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:85396555G>A	ENST00000316398.3	-	1	765	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	207						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCCTTCTCGCGCGCCTGTGCC	0.617																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(619-621)Cgc>Tgc		coiled-coil domain containing 89							103.0	101.0	102.0					11																	85396555		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396555G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.619C>T	11.37:g.85396555G>A	ENSP00000320649:p.Arg207Cys						p.R207C	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	765	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	207						Missense_Mutation	SNP	ENST00000316398.3	37	c.619C>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	g	15.38	2.816226	0.50527	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.8	2.86	0.33363	.	0.139387	0.47093	D	0.000248	T	0.70491	0.3230	M	0.72118	2.19	0.43527	D	0.995809	D	0.89917	1.0	D	0.71414	0.973	T	0.68078	-0.5504	8	.	.	.	-6.6875	10.3318	0.43827	0.0:0.2375:0.4964:0.2661	.	207	Q8N998	CCD89_HUMAN	C	207	.	.	R	-	1	0	CCDC89	85074203	0.882000	0.30256	0.989000	0.46669	0.583000	0.36354	0.962000	0.29280	0.339000	0.23719	-0.121000	0.15023	CGC		0.617	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		23	119	0	0	0	1	0	23	119				
RYR2	6262	broad.mit.edu	37	1	237774148	237774148	+	Silent	SNP	C	C	T	rs397516536		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:237774148C>T	ENST00000366574.2	+	36	5087	c.4770C>T	c.(4768-4770)ttC>ttT	p.F1590F	RYR2_ENST00000360064.6_Silent_p.F1588F|RYR2_ENST00000542537.1_Silent_p.F1574F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1590	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGTGCAGTTCCTGTCACACG	0.557																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(4768-4770)ttC>ttT		ryanodine receptor 2 (cardiac)							58.0	59.0	59.0					1																	237774148		1962	4136	6098	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237774148C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4770C>T	1.37:g.237774148C>T						RYR2_ENST00000542537.1_Silent_p.F1574F|RYR2_ENST00000360064.6_Silent_p.F1588F	p.F1590F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		36	5087	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1590			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4770C>T	CCDS55691.1																																																																																				0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	20	0	0	0	1	0	11	20				
EPAS1	2034	broad.mit.edu	37	2	46609636	46609636	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:46609636C>G	ENST00000263734.3	+	15	2870	c.2360C>G	c.(2359-2361)tCt>tGt	p.S787C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	787					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAGCCTCCATCTGCCATCAGT	0.592																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2359-2361)tCt>tGt		endothelial PAS domain protein 1							94.0	98.0	97.0					2																	46609636		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46609636C>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2360C>G	2.37:g.46609636C>G	ENSP00000263734:p.Ser787Cys						p.S787C	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		15	2870	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	787					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.2360C>G	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	7.386	0.629836	0.14257	.	.	ENSG00000116016	ENST00000263734	T	0.51071	0.72	5.36	5.36	0.76844	.	4.698330	0.00357	N	0.000028	T	0.39410	0.1077	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.42413	-0.9453	10	0.52906	T	0.07	.	16.8478	0.85985	0.0:1.0:0.0:0.0	.	787	Q99814	EPAS1_HUMAN	C	787	ENSP00000263734:S787C	ENSP00000263734:S787C	S	+	2	0	EPAS1	46463140	0.538000	0.26394	0.039000	0.18376	0.092000	0.18411	3.186000	0.50942	2.507000	0.84556	0.563000	0.77884	TCT		0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		5	141	0	0	0	1	0	5	141				
ZDBF2	57683	broad.mit.edu	37	2	207172263	207172263	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:207172263C>G	ENST00000374423.3	+	5	3397	c.3011C>G	c.(3010-3012)tCt>tGt	p.S1004C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1004							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTTTAGATTCTGGTGTCCCT	0.343																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3010-3012)tCt>tGt		zinc finger, DBF-type containing 2							82.0	81.0	81.0					2																	207172263		1866	4088	5954	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172263C>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3011C>G	2.37:g.207172263C>G	ENSP00000363545:p.Ser1004Cys						p.S1004C	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	3397	+			1004					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3011C>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046487	0.36085	.	.	ENSG00000204186	ENST00000374423	T	0.57595	0.39	4.25	2.4	0.29515	.	0.599490	0.14030	N	0.346235	T	0.63616	0.2526	M	0.64404	1.975	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.50320	-0.8842	10	0.72032	D	0.01	.	4.9669	0.14094	0.2088:0.6844:0.0:0.1068	.	1004	Q9HCK1	ZDBF2_HUMAN	C	1004	ENSP00000363545:S1004C	ENSP00000363545:S1004C	S	+	2	0	ZDBF2	206880508	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.024000	0.30077	0.710000	0.31997	0.655000	0.94253	TCT		0.343	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		12	57	0	0	0	1	0	12	57				
CPSF2	53981	broad.mit.edu	37	14	92600486	92600486	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr14:92600486G>T	ENST00000298875.4	+	4	566	c.281G>T	c.(280-282)gGa>gTa	p.G94V		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	94					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TATAAAATGGGACAGATGTTC	0.383																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(280-282)gGa>gTa		cleavage and polyadenylation specific factor 2, 100kDa							204.0	174.0	184.0					14																	92600486		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92600486G>T	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.281G>T	14.37:g.92600486G>T	ENSP00000298875:p.Gly94Val						p.G94V	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	4	566	+		all_cancers(154;0.0766)	94					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.281G>T	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034894	0.93575	.	.	ENSG00000165934	ENST00000298875	T	0.80214	-1.35	5.54	5.54	0.83059	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.92916	0.7746	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93805	0.7104	10	0.52906	T	0.07	.	19.4886	0.95040	0.0:0.0:1.0:0.0	.	94	Q9P2I0	CPSF2_HUMAN	V	94	ENSP00000298875:G94V	ENSP00000298875:G94V	G	+	2	0	CPSF2	91670239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.751000	0.98889	2.601000	0.87937	0.591000	0.81541	GGA		0.383	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			19	64	1	0	2.94398e-08	1	3.10711e-08	19	64				
FAM20A	54757	broad.mit.edu	37	17	66539808	66539808	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:66539808C>G	ENST00000592554.1	-	5	1496	c.774G>C	c.(772-774)caG>caC	p.Q258H	FAM20A_ENST00000226094.5_5'UTR|AC079210.1_ENST00000600820.1_Missense_Mutation_p.L23V|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	258					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CATTGTGTCTCTGAAAGTCAA	0.537																																						ENST00000600820.1																			0											c.(67-69)Ctg>Gtg									202.0	176.0	185.0					17																	66539808		2203	4300	6503	SO:0001583	missense	0							g.chr17:66539808C>G	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.774G>C	17.37:g.66539808C>G	ENSP00000468308:p.Gln258His					PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000592554.1_Missense_Mutation_p.Q258H|FAM20A_ENST00000226094.5_5'UTR	p.L23V							1	440	+								B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.67C>G	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574519	0.45902	.	.	ENSG00000108950	ENST00000226094	.	.	.	5.3	3.27	0.37495	.	0.098313	0.64402	D	0.000001	T	0.69142	0.3078	L	0.57536	1.79	0.45056	D	0.998072	D	0.76494	0.999	D	0.72982	0.979	T	0.71955	-0.4436	9	0.87932	D	0	-29.4543	11.0523	0.47898	0.0:0.7862:0.0:0.2138	.	258	Q96MK3	FA20A_HUMAN	H	258	.	ENSP00000226094:Q258H	Q	-	3	2	FAM20A	64051403	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	2.406000	0.44557	1.374000	0.46228	-0.291000	0.09656	CAG		0.537	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		6	97	0	0	0	1	0	6	97				
EIF3A	8661	broad.mit.edu	37	10	120797938	120797938	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:120797938C>T	ENST00000369144.3	-	20	3667	c.3540G>A	c.(3538-3540)gaG>gaA	p.E1180E	EIF3A_ENST00000541549.1_Silent_p.E1146E	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTTTTTCTTTCTCTCTCCATC	0.378																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3538-3540)gaG>gaA		eukaryotic translation initiation factor 3, subunit A							171.0	171.0	171.0					10																	120797938		2203	4300	6503	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120797938C>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3540G>A	10.37:g.120797938C>T						EIF3A_ENST00000541549.1_Silent_p.E1146E|EIF3A_ENST00000478852.1_Intron	p.E1180E	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	20	3667	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1180			Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.3540G>A	CCDS7608.1																																																																																				0.378	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		26	120	0	0	0	1	0	26	120				
HIVEP3	59269	broad.mit.edu	37	1	42041232	42041232	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:42041232G>A	ENST00000372583.1	-	5	6075	c.5190C>T	c.(5188-5190)atC>atT	p.I1730I	HIVEP3_ENST00000372584.1_Silent_p.I1730I|HIVEP3_ENST00000247584.5_Silent_p.I1730I|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.I1730I	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1730					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGAAGATTTTGATCCTCGCCG	0.557																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(5188-5190)atC>atT		human immunodeficiency virus type I enhancer binding protein 3							169.0	180.0	176.0					1																	42041232		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42041232G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5190C>T	1.37:g.42041232G>A						HIVEP3_ENST00000372583.1_Silent_p.I1730I|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.I1730I|HIVEP3_ENST00000247584.5_Silent_p.I1730I	p.I1730I	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			4	6204	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1730					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.5190C>T	CCDS463.1																																																																																				0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		55	303	0	0	0	1	0	55	303				
PTGER4	5734	broad.mit.edu	37	5	40681938	40681938	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:40681938G>A	ENST00000302472.3	+	2	1867	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	281					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CCCTGGTGGTGCTCATCTGCT	0.667																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(841-843)gtG>gtA		prostaglandin E receptor 4 (subtype EP4)							36.0	40.0	38.0					5																	40681938		2117	4075	6192	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681938G>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.843G>A	5.37:g.40681938G>A							p.V281V	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1867	+			281					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.843G>A	CCDS3930.1																																																																																				0.667	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		4	73	0	0	0	1	0	4	73				
CACNA1I	8911	broad.mit.edu	37	22	40078504	40078504	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr22:40078504G>A	ENST00000402142.3	+	35	5668	c.5668G>A	c.(5668-5670)Gag>Aag	p.E1890K	CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1890K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1855K|CACNA1I_ENST00000336649.4_Missense_Mutation_p.E1896K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1855K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1855K	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1890					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTGCAGGGTGAGCTGGACCC	0.607																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5686-5688)Gag>Aag		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						88.0	96.0	93.0					22																	40078504		2097	4223	6320	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40078504G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5668G>A	22.37:g.40078504G>A	ENSP00000385019:p.Glu1890Lys					CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1855K|CACNA1I_ENST00000402142.3_Missense_Mutation_p.E1890K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1855K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1890K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1855K	p.E1896K			Q9P0X4	CAC1I_HUMAN			38	5686	+	Melanoma(58;0.0749)		1890					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.5686G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555807	0.45487	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96774	-4.09;-4.06;-4.06;-4.02;-4.12;-4.02	4.94	4.94	0.65067	.	0.967415	0.08306	U	0.966211	D	0.94079	0.8102	L	0.44542	1.39	0.29473	N	0.856932	B;P;P;P	0.37466	0.403;0.557;0.557;0.596	B;B;B;B	0.35971	0.157;0.157;0.215;0.107	D	0.86147	0.1585	10	0.10902	T	0.67	.	18.1452	0.89652	0.0:0.0:1.0:0.0	.	1855;1890;1855;1890	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	K	1890;1855;1890;1855;1896;1855	ENSP00000385019:E1890K;ENSP00000384093:E1855K;ENSP00000383887:E1890K;ENSP00000385680:E1855K;ENSP00000337829:E1896K;ENSP00000383028:E1855K	ENSP00000337829:E1896K	E	+	1	0	CACNA1I	38408450	0.991000	0.36638	0.949000	0.38748	0.272000	0.26649	3.719000	0.54926	2.286000	0.76751	0.655000	0.94253	GAG		0.607	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		14	82	0	0	0	1	0	14	82				
ITSN2	50618	broad.mit.edu	37	2	24431971	24431971	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:24431971C>T	ENST00000355123.4	-	36	5036	c.4593G>A	c.(4591-4593)gaG>gaA	p.E1531E	ITSN2_ENST00000361999.3_Silent_p.E1504E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1531	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGACCTCTCATTAATGT	0.547																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4591-4593)gaG>gaA		intersectin 2							92.0	83.0	86.0					2																	24431971		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24431971C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4593G>A	2.37:g.24431971C>T						ITSN2_ENST00000361999.3_Silent_p.E1504E	p.E1531E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			36	5036	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1531			PH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.4593G>A	CCDS1710.2																																																																																				0.547	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		7	36	0	0	0	1	0	7	36				
ITGAL	3683	broad.mit.edu	37	16	30495277	30495277	+	Silent	SNP	C	C	T	rs374466898		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr16:30495277C>T	ENST00000356798.6	+	8	1032	c.852C>T	c.(850-852)atC>atT	p.I284I	ITGAL_ENST00000454514.2_3'UTR|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Silent_p.I201I|RP11-297C4.3_ENST00000562525.1_RNA|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	284	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCTACATCATCGGGGTAGGGC	0.547																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(850-852)atC>atT		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)	C	,	0,4394		0,0,2197	174.0	151.0	159.0		603,852	-3.3	1.0	16		159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ITGAL	NM_001114380.1,NM_002209.2	,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,	201/1087,284/1171	30495277	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30495277C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.852C>T	16.37:g.30495277C>T						ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.I201I|RP11-297C4.2_ENST00000569459.1_RNA	p.I284I	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			8	1032	+			284			VWFA.		O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.852C>T	CCDS32433.1																																																																																				0.547	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			46	178	0	0	0	1	0	46	178				
MYO15A	51168	broad.mit.edu	37	17	18023111	18023111	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:18023111G>A	ENST00000205890.5	+	2	1335	c.997G>A	c.(997-999)Gag>Aag	p.E333K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	333					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGATGGGTACGAGGGCGAGGC	0.602																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(997-999)Gag>Aag		myosin XVA							71.0	78.0	76.0					17																	18023111		2002	4165	6167	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023111G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.997G>A	17.37:g.18023111G>A	ENSP00000205890:p.Glu333Lys						p.E333K	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1335	+	all_neural(463;0.228)		333			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.997G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792525	0.31685	.	.	ENSG00000091536	ENST00000205890	D	0.89270	-2.49	5.35	3.21	0.36854	.	.	.	.	.	T	0.75110	0.3805	N	0.19112	0.55	0.09310	N	0.999992	B	0.33494	0.414	B	0.17098	0.017	T	0.64698	-0.6346	9	0.38643	T	0.18	.	4.0566	0.09819	0.079:0.1476:0.5012:0.2722	.	333	Q9UKN7	MYO15_HUMAN	K	333	ENSP00000205890:E333K	ENSP00000205890:E333K	E	+	1	0	MYO15A	17963836	0.298000	0.24417	0.127000	0.21898	0.540000	0.34992	2.666000	0.46799	1.230000	0.43646	0.561000	0.74099	GAG		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		38	119	0	0	0	1	0	38	119				
DNAH5	1767	broad.mit.edu	37	5	13758984	13758984	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:13758984C>G	ENST00000265104.4	-	61	10494	c.10390G>C	c.(10390-10392)Gag>Cag	p.E3464Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3464	Stalk. {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)					TGTTCATACTCAGCCTGCACC	0.537									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.(10390-10392)Gag>Cag		dynein, axonemal, heavy chain 5							190.0	172.0	178.0					5																	13758984		2203	4300	6503	SO:0001583	missense	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.chr5:13758984C>G	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.10390G>C	5.37:g.13758984C>G	ENSP00000265104:p.Glu3464Gln						p.E3464Q	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			61	10494	-	Lung NSC(4;0.00476)		3464			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10390G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	9.342	1.063368	0.20067	.	.	ENSG00000039139	ENST00000265104	T	0.73789	-0.78	5.78	5.78	0.91487	Dynein heavy chain, coiled coil stalk (1);	0.182647	0.50627	D	0.000108	T	0.45696	0.1355	N	0.01705	-0.755	0.45762	D	0.998654	B	0.09022	0.002	B	0.14023	0.01	T	0.51004	-0.8760	10	0.06236	T	0.91	.	13.2335	0.59957	0.0:0.9278:0.0:0.0721	.	3464	Q8TE73	DYH5_HUMAN	Q	3464	ENSP00000265104:E3464Q	ENSP00000265104:E3464Q	E	-	1	0	DNAH5	13811984	1.000000	0.71417	0.971000	0.41717	0.888000	0.51559	6.000000	0.70678	2.742000	0.94016	0.650000	0.86243	GAG		0.537	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		35	114	0	0	0	1	0	35	114				
COPG1	22820	broad.mit.edu	37	3	128979521	128979521	+	Silent	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:128979521C>G	ENST00000314797.6	+	12	1103	c.999C>G	c.(997-999)gtC>gtG	p.V333V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	333					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										AGAACCTGGTCACAGATTCAA	0.552																																						ENST00000314797.6																			0											c.(997-999)gtC>gtG		coatomer protein complex, subunit gamma 1							81.0	74.0	76.0					3																	128979521		2203	4300	6503	SO:0001819	synonymous_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128979521C>G	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.999C>G	3.37:g.128979521C>G							p.V333V	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			12	1103	+			333					A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	c.999C>G	CCDS33851.1																																																																																				0.552	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		6	94	0	0	0	1	0	6	94				
SLX4	84464	broad.mit.edu	37	16	3632371	3632371	+	Missense_Mutation	SNP	C	C	T	rs373558741		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr16:3632371C>T	ENST00000294008.3	-	15	6117	c.5477G>A	c.(5476-5478)cGg>cAg	p.R1826Q	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1826	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTTCTTGCCCCGAGGCTGCCG	0.667								Direct reversal of damage					C|||	1	0.000199681	0.0	0.0	5008	,	,		13210	0.0		0.0	False		,,,				2504	0.001					ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(5476-5478)cGg>cAg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit		C	GLN/ARG	1,4393		0,1,2196	57.0	57.0	57.0		5477	-11.3	0.0	16		57	0,8600		0,0,4300	no	missense	SLX4	NM_032444.2	43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	1826/1835	3632371	1,12993	2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3632371C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.5477G>A	16.37:g.3632371C>T	ENSP00000294008:p.Arg1826Gln					RP11-461A8.1_ENST00000573982.1_lincRNA	p.R1826Q	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			15	6117	-			1826			Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.5477G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310572	0.40895	2.28E-4	0.0	ENSG00000188827	ENST00000294008	T	0.01197	5.19	5.65	-11.3	0.00108	.	3.476170	0.00695	N	0.000742	T	0.00906	0.0030	N	0.22421	0.69	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.35574	-0.9783	10	0.38643	T	0.18	.	8.2473	0.31695	0.108:0.3951:0.4175:0.0794	.	1826	Q8IY92	SLX4_HUMAN	Q	1826	ENSP00000294008:R1826Q	ENSP00000294008:R1826Q	R	-	2	0	SLX4	3572372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.385000	0.00489	-2.796000	0.00354	-0.976000	0.02587	CGG		0.667	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		25	88	0	0	0	1	0	25	88				
CNTNAP2	26047	broad.mit.edu	37	7	147869528	147869528	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:147869528G>A	ENST00000361727.3	+	18	3484	c.2968G>A	c.(2968-2970)Gat>Aat	p.D990N	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.D49N	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	990	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D990N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTACTCCTGCGATTGCTCTAA	0.453										HNSCC(39;0.1)																												ENST00000361727.3																			1	Substitution - Missense(1)	p.D990N(1)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2968-2970)Gat>Aat		contactin associated protein-like 2							148.0	146.0	147.0					7																	147869528		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869528G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2968G>A	7.37:g.147869528G>A	ENSP00000354778:p.Asp990Asn	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_Missense_Mutation_p.D49N	p.D990N	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3484	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	990			EGF-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2968G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774188	0.69992	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;D	0.84730	-1.89;-1.89	5.28	5.28	0.74379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.90310	0.6969	M	0.76838	2.35	0.58432	D	0.999999	P	0.52692	0.955	P	0.54706	0.759	D	0.90228	0.4277	10	0.44086	T	0.13	.	17.4971	0.87720	0.0:0.0:1.0:0.0	.	990	Q9UHC6	CNTP2_HUMAN	N	990;49	ENSP00000354778:D990N;ENSP00000440732:D49N	ENSP00000354778:D990N	D	+	1	0	CNTNAP2	147500461	1.000000	0.71417	0.994000	0.49952	0.116000	0.19942	9.694000	0.98686	2.483000	0.83821	0.563000	0.77884	GAT		0.453	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			20	87	0	0	0	1	0	20	87				
REV3L	5980	broad.mit.edu	37	6	111695940	111695940	+	Missense_Mutation	SNP	C	C	G	rs35802572		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:111695940C>G	ENST00000358835.3	-	14	4072	c.3618G>C	c.(3616-3618)aaG>aaC	p.K1206N	REV3L_ENST00000368802.3_Missense_Mutation_p.K1206N|REV3L_ENST00000435970.1_Missense_Mutation_p.K1128N|REV3L_ENST00000368805.1_Missense_Mutation_p.K1206N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1206					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTCTTGGTTTCTTTTTTCCAT	0.323								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(3382-3384)aaG>aaC	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							82.0	81.0	81.0					6																	111695940		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111695940C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3618G>C	6.37:g.111695940C>G	ENSP00000351697:p.Lys1206Asn					REV3L_ENST00000358835.3_Missense_Mutation_p.K1206N|REV3L_ENST00000368805.1_Missense_Mutation_p.K1206N|REV3L_ENST00000368802.3_Missense_Mutation_p.K1206N	p.K1128N			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	4200	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1206					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.3384G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508555	0.44660	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.02015	4.6;4.6;4.6;4.5	5.54	4.66	0.58398	Ribonuclease H-like (1);	0.301809	0.32314	N	0.006277	T	0.02230	0.0069	L	0.56769	1.78	0.33227	D	0.5554	P	0.50272	0.933	P	0.46479	0.518	T	0.29027	-1.0025	10	0.87932	D	0	.	11.5051	0.50461	0.0:0.8631:0.0:0.1369	.	1206	O60673	DPOLZ_HUMAN	N	1206;1206;1206;1128	ENSP00000357792:K1206N;ENSP00000357795:K1206N;ENSP00000351697:K1206N;ENSP00000402003:K1128N	ENSP00000351697:K1206N	K	-	3	2	REV3L	111802633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.246000	0.32803	2.764000	0.94973	0.655000	0.94253	AAG		0.323	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		6	35	0	0	0	1	0	6	35				
ZBTB21	49854	broad.mit.edu	37	21	43411138	43411138	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr21:43411138C>T	ENST00000310826.5	-	3	3250	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K	ZBTB21_ENST00000398505.3_Missense_Mutation_p.E822K|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E1023K|ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E1023K	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	1023					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GTGTCTGATTCTTGGGGCACA	0.498																																						ENST00000310826.5																			0											c.(3067-3069)Gaa>Aaa		zinc finger and BTB domain containing 21							103.0	106.0	105.0					21																	43411138		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411138C>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.3067G>A	21.37:g.43411138C>T	ENSP00000308759:p.Glu1023Lys					ZBTB21_ENST00000398499.1_Missense_Mutation_p.E1023K|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E1023K|ZBTB21_ENST00000398505.3_Missense_Mutation_p.E822K	p.E1023K	NM_001098402.1	NP_001091872.1					3	3250	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.3067G>A	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640181	0.87760	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.01745	4.66;4.66;4.66;4.66	5.07	5.07	0.68467	.	0.000000	0.64402	U	0.000001	T	0.06325	0.0163	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.994	T	0.46652	-0.9176	10	0.72032	D	0.01	-18.3862	18.454	0.90713	0.0:1.0:0.0:0.0	.	822;1023	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	K	822;1023;1023;1023	ENSP00000381517:E822K;ENSP00000308759:E1023K;ENSP00000381512:E1023K;ENSP00000381523:E1023K	ENSP00000308759:E1023K	E	-	1	0	ZNF295	42284207	1.000000	0.71417	0.973000	0.42090	0.973000	0.67179	7.332000	0.79203	2.353000	0.79882	0.655000	0.94253	GAA		0.498	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		16	58	0	0	0	1	0	16	58				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121115981	121115981	+	lincRNA	SNP	C	C	T	rs201138873	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:121115981C>T	ENST00000437515.1	-	0	329					NR_104189.1																						CCACGGCCAACGTTCGCATTG	0.527																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121115981C>T																													1.37:g.121115981C>T														0	329	-									RNA	SNP	ENST00000437515.1	37																																																																																						0.527	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			3	11	0	0	0	1	0	3	11				
ALDH1L1	10840	broad.mit.edu	37	3	125865695	125865695	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:125865695C>T	ENST00000393434.2	-	9	1408	c.1059G>A	c.(1057-1059)gcG>gcA	p.A353A	ALDH1L1_ENST00000452905.2_Silent_p.A252A|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000472186.1_Silent_p.A353A|ALDH1L1_ENST00000273450.3_Silent_p.A363A|ALDH1L1_ENST00000393431.2_Silent_p.A353A	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	353	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CGTCCACAGACGCGGCCCCTG	0.542																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1057-1059)gcG>gcA		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						55.0	54.0	55.0					3																	125865695		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125865695C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1059G>A	3.37:g.125865695C>T						ALDH1L1_ENST00000393431.2_Silent_p.A353A|ALDH1L1_ENST00000273450.3_Silent_p.A363A|ALDH1L1_ENST00000472186.1_Silent_p.A353A|ALDH1L1_ENST00000452905.2_Silent_p.A252A	p.A353A	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	9	1408	-			353			Acyl carrier.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.1059G>A	CCDS3034.1																																																																																				0.542	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		5	55	0	0	0	1	0	5	55				
NOL4	8715	broad.mit.edu	37	18	31599388	31599388	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:31599388G>A	ENST00000261592.5	-	6	1247	c.950C>T	c.(949-951)tCg>tTg	p.S317L	NOL4_ENST00000535384.1_Missense_Mutation_p.S32L|NOL4_ENST00000538587.1_Missense_Mutation_p.S243L|NOL4_ENST00000269185.4_Missense_Mutation_p.S203L|NOL4_ENST00000535475.1_Missense_Mutation_p.S162L|NOL4_ENST00000589544.1_Missense_Mutation_p.S317L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	317						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTGTATTCCGAAGTTAGCTG	0.458																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(949-951)tCg>tTg		nucleolar protein 4							179.0	154.0	162.0					18																	31599388		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31599388G>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.950C>T	18.37:g.31599388G>A	ENSP00000261592:p.Ser317Leu					NOL4_ENST00000269185.4_Missense_Mutation_p.S203L|NOL4_ENST00000538587.1_Missense_Mutation_p.S243L|NOL4_ENST00000535384.1_Missense_Mutation_p.S32L|NOL4_ENST00000535475.1_Missense_Mutation_p.S162L|NOL4_ENST00000589544.1_Missense_Mutation_p.S317L	p.S317L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			6	1247	-			317					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.950C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368055	0.82463	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.75	5.75	0.90469	.	0.272390	0.32343	N	0.006234	D	0.86847	0.6031	L	0.38175	1.15	0.43058	D	0.994672	P;D;P;P;P;P;P;D	0.71674	0.68;0.995;0.907;0.846;0.83;0.907;0.876;0.998	B;P;B;B;B;B;B;P	0.62298	0.057;0.748;0.246;0.123;0.09;0.246;0.228;0.9	D	0.86476	0.1788	10	0.48119	T	0.1	-4.5256	19.9358	0.97142	0.0:0.0:1.0:0.0	.	203;66;32;243;317;32;317;162	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	L	317;203;66;32;162;243	ENSP00000261592:S317L;ENSP00000269185:S203L;ENSP00000445733:S32L;ENSP00000438190:S162L;ENSP00000443472:S243L	ENSP00000261592:S317L	S	-	2	0	NOL4	29853386	1.000000	0.71417	0.983000	0.44433	0.966000	0.64601	7.149000	0.77396	2.730000	0.93505	0.542000	0.68232	TCG		0.458	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		5	55	0	0	0	1	0	5	55				
HRAS	3265	broad.mit.edu	37	11	533550	533550	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:533550C>T	ENST00000451590.1	-	4	540	c.353G>A	c.(352-354)tGt>tAt	p.C118Y	HRAS_ENST00000417302.1_Missense_Mutation_p.C118Y|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000397596.2_Missense_Mutation_p.C118Y|HRAS_ENST00000311189.7_Missense_Mutation_p.C118Y|HRAS_ENST00000397594.1_Missense_Mutation_p.C118Y	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	118					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCAGGTCACACTTGTTCCC	0.632		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		0				adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(352-354)tGt>tAt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						198.0	175.0	183.0					11																	533550		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533550C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.353G>A	11.37:g.533550C>T	ENSP00000407586:p.Cys118Tyr	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.C118Y|HRAS_ENST00000311189.7_Missense_Mutation_p.C118Y|HRAS_ENST00000397594.1_Missense_Mutation_p.C118Y|HRAS_ENST00000451590.1_Missense_Mutation_p.C118Y	p.C118Y	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	540	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	118					B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.353G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814138	0.50527	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46	4.08	3.14	0.36123	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.89904	3.07	0.80722	D	1	B;B	0.23806	0.024;0.091	B;B	0.29267	0.017;0.1	T	0.76623	-0.2891	10	0.87932	D	0	.	10.5508	0.45087	0.0:0.9029:0.0:0.0971	.	118;118	P01112-2;P01112	.;RASH_HUMAN	Y	118	ENSP00000380722:C118Y;ENSP00000380723:C118Y;ENSP00000407586:C118Y;ENSP00000388246:C118Y;ENSP00000309845:C118Y	ENSP00000309845:C118Y	C	-	2	0	HRAS	523550	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.927000	0.56499	1.997000	0.58415	0.561000	0.74099	TGT		0.632	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		45	103	0	0	0	1	0	45	103				
SAMD8	142891	broad.mit.edu	37	10	76928320	76928320	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:76928320C>T	ENST00000542569.1	+	4	799	c.696C>T	c.(694-696)ctC>ctT	p.L232L	SAMD8_ENST00000372690.3_Silent_p.L295L|SAMD8_ENST00000372687.4_Silent_p.L232L	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	232					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGCGAAGGCTCTGTAGTCTGA	0.448																																						ENST00000542569.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12						c.(694-696)ctC>ctT		sterile alpha motif domain containing 8							333.0	310.0	318.0					10																	76928320		2203	4300	6503	SO:0001819	synonymous_variant	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76928320C>T	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.696C>T	10.37:g.76928320C>T						SAMD8_ENST00000372690.3_Silent_p.L295L|SAMD8_ENST00000372687.3_Silent_p.L232L	p.L232L	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN			4	799	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		232					Q5JSC5|Q5JSC8|Q66K52	Silent	SNP	ENST00000542569.1	37	c.696C>T	CCDS53543.1																																																																																				0.448	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		5	169	0	0	0	1	0	5	169				
RYK	6259	broad.mit.edu	37	3	133878181	133878181	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:133878181G>C	ENST00000427044.2	-	15	1655	c.1045C>G	c.(1045-1047)Ctg>Gtg	p.L349V	RYK_ENST00000296084.4_Missense_Mutation_p.L539V			P34925	RYK_HUMAN	receptor-like tyrosine kinase	535	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.L539V(1)		lung(1)|ovary(3)	4						GTCTGGCCCAGAGTCATGAGT	0.522																																						ENST00000427044.2																			1	Substitution - Missense(1)	p.L539V(1)	breast(1)	lung(1)|ovary(3)	4						c.(1045-1047)Ctg>Gtg		receptor-like tyrosine kinase							65.0	64.0	64.0					3																	133878181		2017	4165	6182	SO:0001583	missense	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133878181G>C	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.1045C>G	3.37:g.133878181G>C	ENSP00000399527:p.Leu349Val					RYK_ENST00000296084.4_Missense_Mutation_p.L539V	p.L349V			P34925	RYK_HUMAN			15	1655	-			535			Protein kinase.		Q04696	Missense_Mutation	SNP	ENST00000427044.2	37	c.1045C>G		.	.	.	.	.	.	.	.	.	.	G	20.4	3.990921	0.74703	.	.	ENSG00000163785	ENST00000296084;ENST00000427044	T;D	0.89746	0.7;-2.56	5.65	4.77	0.60923	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	M	0.92077	3.27	0.80722	D	1	D;D	0.63046	0.992;0.99	D;D	0.76071	0.987;0.979	D	0.95415	0.8502	10	0.72032	D	0.01	-3.9121	11.9299	0.52841	0.1673:0.0:0.8327:0.0	.	535;538	P34925;P34925-2	RYK_HUMAN;.	V	539;349	ENSP00000296084:L539V;ENSP00000399527:L349V	ENSP00000296084:L539V	L	-	1	2	RYK	135360871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.290000	0.43531	2.668000	0.90789	0.591000	0.81541	CTG		0.522	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		10	47	0	0	0	1	0	10	47				
TTN	7273	broad.mit.edu	37	2	179582510	179582510	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:179582510C>G	ENST00000591111.1	-	85	24364	c.24140G>C	c.(24139-24141)aGa>aCa	p.R8047T	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7120T|TTN_ENST00000589042.1_Missense_Mutation_p.R8364T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12237	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGTTTTCTTGCAAAGAA	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25090-25092)aGa>aCa		titin							33.0	32.0	32.0					2																	179582510		1846	4093	5939	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582510C>G	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.24140G>C	2.37:g.179582510C>G	ENSP00000465570:p.Arg8047Thr					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7120T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R8047T	p.R8364T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	25315	-			8047			Ig-like 66.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25091G>C		.	.	.	.	.	.	.	.	.	.	C	10.34	1.323452	0.24080	.	.	ENSG00000155657	ENST00000342992	T	0.66099	-0.19	5.87	4.99	0.66335	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52725	0.1752	L	0.39692	1.235	0.80722	D	1	P	0.41475	0.751	B	0.38458	0.274	T	0.58747	-0.7582	9	0.87932	D	0	.	12.068	0.53598	0.0:0.8696:0.0:0.1304	.	8047	Q8WZ42	TITIN_HUMAN	T	7120	ENSP00000343764:R7120T	ENSP00000343764:R7120T	R	-	2	0	TTN	179290755	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.947000	0.40293	2.941000	0.99782	0.655000	0.94253	AGA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	26	0	0	0	1	0	7	26				
TMEM248	55069	broad.mit.edu	37	7	66418288	66418288	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:66418288T>C	ENST00000341567.4	+	6	1111	c.856T>C	c.(856-858)Tgc>Cgc	p.C286R		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	286						integral component of membrane (GO:0016021)											AACAATGTTTTGCTATGCTGT	0.423																																						ENST00000341567.4																			0											c.(856-858)Tgc>Cgc		transmembrane protein 248							185.0	171.0	176.0					7																	66418288		2203	4300	6503	SO:0001583	missense	55069							g.chr7:66418288T>C		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.856T>C	7.37:g.66418288T>C	ENSP00000340668:p.Cys286Arg						p.C286R	NM_017994.4	NP_060464.1					6	1111	+								Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.856T>C	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623430	0.87460	.	.	ENSG00000106609	ENST00000341567	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.69774	-0.5054	9	0.72032	D	0.01	-11.7391	15.2769	0.73748	0.0:0.0:0.0:1.0	.	286	Q9NWD8	CG042_HUMAN	R	286	.	ENSP00000340668:C286R	C	+	1	0	C7orf42	66055723	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.634000	0.83273	2.199000	0.70637	0.533000	0.62120	TGC		0.423	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		22	94	0	0	0	1	0	22	94				
AHNAK2	113146	broad.mit.edu	37	14	105414321	105414321	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr14:105414321C>T	ENST00000333244.5	-	7	7586	c.7467G>A	c.(7465-7467)aaG>aaA	p.K2489K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2489						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGACGGCATCTTGAACTTGG	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7465-7467)aaG>aaA		AHNAK nucleoprotein 2							175.0	201.0	193.0					14																	105414321		2024	4180	6204	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414321C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7467G>A	14.37:g.105414321C>T						AHNAK2_ENST00000557457.1_Intron	p.K2489K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7586	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2489					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7467G>A	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		63	336	0	0	0	1	0	63	336				
NUDT16L1	84309	broad.mit.edu	37	16	4744970	4744970	+	Silent	SNP	C	C	T	rs149968687		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr16:4744970C>T	ENST00000304301.6	+	3	459	c.426C>T	c.(424-426)ctC>ctT	p.L142L	NUDT16L1_ENST00000586252.1_Intron|NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000586536.1_Missense_Mutation_p.R166C	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	142	Interaction with PXN. {ECO:0000250}.					cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						TGCTGGGCCTCGTGCGGGTCC	0.647																																						ENST00000586536.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(496-498)Cgt>Tgt		nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1		C	CYS/ARG,	1,4393	2.1+/-5.4	0,1,2196	32.0	28.0	29.0		496,426	-7.2	0.5	16	dbSNP_134	29	0,8598		0,0,4299	no	missense,coding-synonymous	NUDT16L1	NM_001193452.1,NM_032349.3	180,	0,1,6495	TT,TC,CC		0.0,0.0228,0.0077	,	166/193,142/212	4744970	1,12991	2197	4299	6496	SO:0001819	synonymous_variant	84309					cytoplasm	hydrolase activity	g.chr16:4744970C>T	BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"""Nudix motif containing"""	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.426C>T	16.37:g.4744970C>T						NUDT16L1_ENST00000586252.1_Intron|NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000304301.6_Silent_p.L142L	p.R166C	NM_001193452.1	NP_001180381.1	Q9BRJ7	SDOS_HUMAN			3	516	+			0			Interaction with PXN (By similarity).		Q8NAI2	Missense_Mutation	SNP	ENST00000304301.6	37	c.496C>T	CCDS10519.1																																																																																				0.647	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		6	16	0	0	0	1	0	6	16				
ZNF700	90592	broad.mit.edu	37	19	12060248	12060248	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:12060248G>C	ENST00000254321.5	+	4	1552	c.1409G>C	c.(1408-1410)gGa>gCa	p.G470A	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.G452A|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ACTCATACTGGAGAGAAACCC	0.443																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1354-1356)gGa>gCa		zinc finger protein 700							76.0	76.0	76.0					19																	12060248		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060248G>C	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1409G>C	19.37:g.12060248G>C	ENSP00000254321:p.Gly470Ala					CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G470A|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	p.G452A			Q9H0M5	ZN700_HUMAN			3	1773	+			470					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1355G>C	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.759065	0.49468	.	.	ENSG00000196757	ENST00000254321	T	0.26373	1.74	0.606	0.606	0.17559	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40570	0.1122	M	0.82132	2.575	0.39919	D	0.974132	D	0.54047	0.964	P	0.54346	0.749	T	0.48833	-0.9000	9	0.87932	D	0	.	8.6677	0.34132	0.0:0.0:1.0:0.0	.	470	Q9H0M5	ZN700_HUMAN	A	470	ENSP00000254321:G470A	ENSP00000254321:G470A	G	+	2	0	ZNF700	11921248	0.974000	0.33945	0.370000	0.25965	0.117000	0.20001	2.103000	0.41806	0.577000	0.29470	0.195000	0.17529	GGA		0.443	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		17	50	0	0	0	1	0	17	50				
ADAMTS20	80070	broad.mit.edu	37	12	43846349	43846349	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr12:43846349G>A	ENST00000389420.3	-	13	1909	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S637F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	637	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCTCACATTAGAGGGAATGCC	0.373																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1909-1911)tCt>tTt		ADAM metallopeptidase with thrombospondin type 1 motif, 20							87.0	77.0	81.0					12																	43846349		2203	4299	6502	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43846349G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1910C>T	12.37:g.43846349G>A	ENSP00000374071:p.Ser637Phe					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S637F	p.S637F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	13	1909	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	637			Cys-rich.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1910C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173857	0.57692	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.03663	3.85;3.85	4.85	4.85	0.62838	.	0.400762	0.21166	N	0.079068	T	0.07098	0.0180	M	0.62723	1.935	0.80722	D	1	P	0.47545	0.897	B	0.42087	0.375	T	0.09930	-1.0652	10	0.56958	D	0.05	.	14.4757	0.67544	0.0:0.1473:0.8527:0.0	.	637	P59510	ATS20_HUMAN	F	637	ENSP00000374071:S637F;ENSP00000448341:S637F	ENSP00000374068:S637F	S	-	2	0	ADAMTS20	42132616	1.000000	0.71417	0.999000	0.59377	0.271000	0.26615	6.264000	0.72527	2.624000	0.88883	0.563000	0.77884	TCT		0.373	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		6	33	0	0	0	1	0	6	33				
EFNB3	1949	broad.mit.edu	37	17	7612627	7612627	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:7612627G>A	ENST00000226091.2	+	5	1153	c.756G>A	c.(754-756)cgG>cgA	p.R252R		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	252					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGTGTTGGCGGAGACGGCGGG	0.726																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(754-756)cgG>cgA		ephrin-B3							10.0	11.0	11.0					17																	7612627		2178	4256	6434	SO:0001819	synonymous_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612627G>A	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.756G>A	17.37:g.7612627G>A							p.R252R	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			5	1153	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	252					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Silent	SNP	ENST00000226091.2	37	c.756G>A	CCDS11120.1																																																																																				0.726	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		5	19	0	0	0	1	0	5	19				
F13A1	2162	broad.mit.edu	37	6	6167819	6167819	+	Missense_Mutation	SNP	C	C	T	rs529985469		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:6167819C>T	ENST00000264870.3	-	13	2045	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	MIR5683_ENST00000584820.1_RNA	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	594					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCATGTACTCGCCGGCTTGG	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		18052	0.001		0.0	False		,,,				2504	0.0					ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1780-1782)Gag>Aag		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						113.0	83.0	93.0					6																	6167819		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6167819C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1780G>A	6.37:g.6167819C>T	ENSP00000264870:p.Glu594Lys						p.E594K	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			13	2045	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	594					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1780G>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101867	0.56183	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.76186	-1.0	5.54	5.54	0.83059	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.121857	0.56097	D	0.000025	T	0.68522	0.3010	M	0.66939	2.045	0.53688	D	0.999973	P;D	0.64830	0.952;0.994	B;P	0.45829	0.274;0.494	T	0.67317	-0.5701	10	0.23302	T	0.38	.	18.4784	0.90802	0.0:1.0:0.0:0.0	.	531;594	F5H080;P00488	.;F13A_HUMAN	K	594;531	ENSP00000264870:E594K	ENSP00000264870:E594K	E	-	1	0	F13A1	6112818	0.998000	0.40836	0.990000	0.47175	0.053000	0.15095	4.935000	0.63498	2.616000	0.88540	0.467000	0.42956	GAG		0.522	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		10	29	0	0	0	1	0	10	29				
SPEF2	79925	broad.mit.edu	37	5	35704682	35704682	+	Missense_Mutation	SNP	C	C	G	rs372983559		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:35704682C>G	ENST00000356031.3	+	17	2579	c.2425C>G	c.(2425-2427)Cac>Gac	p.H809D	SPEF2_ENST00000440995.2_Missense_Mutation_p.H804D|SPEF2_ENST00000509059.1_Missense_Mutation_p.H804D|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	809					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAAAACTGCTCACGAAGATAT	0.313																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2410-2412)Cac>Gac		sperm flagellar 2							115.0	105.0	108.0					5																	35704682		1824	4078	5902	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35704682C>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2425C>G	5.37:g.35704682C>G	ENSP00000348314:p.His809Asp					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.H809D|SPEF2_ENST00000509059.1_Missense_Mutation_p.H804D	p.H804D			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		17	2410	+	all_lung(31;7.56e-05)		809					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2410C>G	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	6.370	0.436378	0.12104	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.33865	3.28;3.07;3.27;1.39	5.61	1.25	0.21368	.	1.297430	0.04888	N	0.448939	T	0.32194	0.0821	L	0.57536	1.79	0.09310	N	0.999999	B;B;B	0.19817	0.039;0.039;0.023	B;B;B	0.18871	0.01;0.023;0.006	T	0.21861	-1.0233	10	0.18276	T	0.48	.	4.7597	0.13102	0.1465:0.5773:0.0:0.2762	.	804;804;809	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	D	809;804;804;315	ENSP00000348314:H809D;ENSP00000421593:H804D;ENSP00000412125:H804D;ENSP00000421744:H315D	ENSP00000348314:H809D	H	+	1	0	SPEF2	35740439	0.033000	0.19621	0.033000	0.17914	0.003000	0.03518	0.583000	0.23849	0.625000	0.30304	-0.218000	0.12543	CAC		0.313	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		10	38	0	0	0	1	0	10	38				
AKAP4	8852	broad.mit.edu	37	X	49965527	49965527	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrX:49965527G>C	ENST00000358526.2	-	1	137	c.14C>G	c.(13-15)tCt>tGt	p.S5C	AKAP4_ENST00000376064.3_5'Flank|AKAP4_ENST00000481402.1_5'Flank|AKAP4_ENST00000376058.2_5'UTR|AKAP4_ENST00000376056.2_5'UTR	NM_003886.2	NP_003877.2			A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGTAGTATCAGAGTACGCCAT	0.443																																						ENST00000358526.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(13-15)tCt>tGt		A kinase (PRKA) anchor protein 4							306.0	222.0	250.0					X																	49965527		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49965527G>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000358526.2:c.14C>G	X.37:g.49965527G>C	ENSP00000351327:p.Ser5Cys					AKAP4_ENST00000376056.2_5'UTR|AKAP4_ENST00000376058.2_5'UTR	p.S5C	NM_003886.2	NP_003877.2	Q5JQC9	AKAP4_HUMAN			1	137	-	Ovarian(276;0.236)		5						Missense_Mutation	SNP	ENST00000358526.2	37	c.14C>G	CCDS14329.1	.	.	.	.	.	.	.	.	.	.	G	6.021	0.372321	0.11409	.	.	ENSG00000147081	ENST00000358526	T	0.33654	1.4	4.61	-1.05	0.10036	.	0.622471	0.13373	N	0.392791	T	0.14056	0.0340	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.25328	-1.0135	9	.	.	.	-2.6818	4.7464	0.13040	0.3115:0.3732:0.3153:0.0	.	5	Q5JQC9	AKAP4_HUMAN	C	5	ENSP00000351327:S5C	.	S	-	2	0	AKAP4	49852267	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.687000	0.05156	-0.369000	0.08028	-0.301000	0.09380	TCT		0.443	AKAP4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056551.1	NM_003886		20	43	0	0	0	1	0	20	43				
TNIK	23043	broad.mit.edu	37	3	170819360	170819360	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:170819360C>G	ENST00000436636.2	-	22	2813	c.2469G>C	c.(2467-2469)atG>atC	p.M823I	TNIK_ENST00000369326.5_Missense_Mutation_p.M801I|TNIK_ENST00000475336.1_Missense_Mutation_p.M731I|TNIK_ENST00000357327.5_Missense_Mutation_p.M794I|TNIK_ENST00000284483.8_Missense_Mutation_p.M815I|TNIK_ENST00000470834.1_Missense_Mutation_p.M786I|TNIK_ENST00000538048.1_Missense_Mutation_p.M775I|TNIK_ENST00000341852.6_Missense_Mutation_p.M739I|TNIK_ENST00000460047.1_Missense_Mutation_p.M760I|TNIK_ENST00000488470.1_Missense_Mutation_p.M768I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	823	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCACCTTCTTCATTGGGCGGT	0.468																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2467-2469)atG>atC		TRAF2 and NCK interacting kinase							257.0	245.0	249.0					3																	170819360		2059	4204	6263	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170819360C>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2469G>C	3.37:g.170819360C>G	ENSP00000399511:p.Met823Ile					TNIK_ENST00000470834.1_Missense_Mutation_p.M786I|TNIK_ENST00000475336.1_Missense_Mutation_p.M731I|TNIK_ENST00000341852.6_Missense_Mutation_p.M739I|TNIK_ENST00000460047.1_Missense_Mutation_p.M760I|TNIK_ENST00000488470.1_Missense_Mutation_p.M768I|TNIK_ENST00000538048.1_Missense_Mutation_p.M775I|TNIK_ENST00000369326.5_Missense_Mutation_p.M801I|TNIK_ENST00000357327.5_Missense_Mutation_p.M794I|TNIK_ENST00000284483.8_Missense_Mutation_p.M815I	p.M823I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		22	2813	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		823			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2469G>C	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	9.739	1.164254	0.21538	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	6.02	5.13	0.70059	.	0.125337	0.56097	D	0.000030	T	0.52041	0.1710	N	0.08118	0	0.21325	N	0.999725	B;B;B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.0;0.003;0.0;0.0;0.002	B;B;B;B;B;B;B;B	0.17433	0.0;0.001;0.0;0.0;0.018;0.004;0.0;0.001	T	0.35847	-0.9772	10	0.25751	T	0.34	.	15.4343	0.75133	0.0:0.7371:0.2629:0.0	.	731;786;760;739;815;794;768;823	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	I	823;801;775;739;815;731;794;760;768;786	ENSP00000399511:M823I;ENSP00000358332:M801I;ENSP00000443278:M775I;ENSP00000345352:M739I;ENSP00000284483:M815I;ENSP00000418156:M731I;ENSP00000349880:M794I;ENSP00000418916:M760I;ENSP00000418378:M768I;ENSP00000419990:M786I	ENSP00000284483:M815I	M	-	3	0	TNIK	172302054	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.151000	0.31651	1.513000	0.48852	0.650000	0.86243	ATG		0.468	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		27	173	0	0	0	1	0	27	173				
TUBG2	27175	broad.mit.edu	37	17	40817761	40817761	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:40817761C>T	ENST00000251412.7	+	8	958	c.759C>T	c.(757-759)ctC>ctT	p.L253L	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	253					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		ACAATGACCTCATCGGCCTCA	0.622																																						ENST00000251412.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(757-759)ctC>ctT		tubulin, gamma 2							218.0	173.0	188.0					17																	40817761		2203	4300	6503	SO:0001819	synonymous_variant	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40817761C>T	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.759C>T	17.37:g.40817761C>T							p.L253L	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	8	958	+		Breast(137;0.00116)	253					A6NDI4|Q32NB2	Silent	SNP	ENST00000251412.7	37	c.759C>T	CCDS32658.1																																																																																				0.622	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		57	189	0	0	0	1	0	57	189				
RRM1	6240	broad.mit.edu	37	11	4142861	4142861	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:4142861G>C	ENST00000300738.5	+	10	1108	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000423050.2_Missense_Mutation_p.E205Q|RRM1_ENST00000534285.1_Missense_Mutation_p.E80Q	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	302					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TATTTACCTGGAGCCTTGGCA	0.388																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(904-906)Gag>Cag		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						97.0	99.0	98.0					11																	4142861		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4142861G>C	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.904G>C	11.37:g.4142861G>C	ENSP00000300738:p.Glu302Gln					RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000423050.2_Missense_Mutation_p.E205Q|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000534285.1_Missense_Mutation_p.E80Q	p.E302Q	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	10	1108	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	302					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.904G>C	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377334	0.82682	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838	T;T;T	0.49139	0.79;0.79;0.79	5.4	4.49	0.54785	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.77987	0.4213	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.85328	0.1088	10	0.87932	D	0	-16.4694	13.056	0.58980	0.0775:0.0:0.9225:0.0	.	302	P23921	RIR1_HUMAN	Q	302;205;215;80;80	ENSP00000300738:E302Q;ENSP00000390539:E205Q;ENSP00000431464:E80Q	ENSP00000300738:E302Q	E	+	1	0	RRM1	4099437	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.476000	0.97823	1.265000	0.44215	0.650000	0.86243	GAG		0.388	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		14	38	0	0	0	1	0	14	38				
FOXP1	27086	broad.mit.edu	37	3	71021784	71021784	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:71021784C>T	ENST00000318789.4	-	18	2099	c.1574G>A	c.(1573-1575)cGa>cAa	p.R525Q	FOXP1_ENST00000493089.1_Missense_Mutation_p.R524Q|FOXP1_ENST00000484350.1_Missense_Mutation_p.R449Q|FOXP1_ENST00000475937.1_Missense_Mutation_p.R525Q|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000491238.1_Missense_Mutation_p.R527Q|FOXP1_ENST00000498215.1_Missense_Mutation_p.R525Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	525					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTTTCTACTCGCACAAAACA	0.388			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1573-1575)cGa>cAa		forkhead box P1							570.0	455.0	494.0					3																	71021784		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71021784C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1574G>A	3.37:g.71021784C>T	ENSP00000318902:p.Arg525Gln					FOXP1_ENST00000498215.1_Missense_Mutation_p.R525Q|FOXP1_ENST00000484350.1_Missense_Mutation_p.R449Q|FOXP1_ENST00000475937.1_Missense_Mutation_p.R525Q|FOXP1_ENST00000493089.1_Missense_Mutation_p.R524Q|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000491238.1_Missense_Mutation_p.R527Q	p.R525Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	18	2099	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	525					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.1574G>A	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937894	0.92526	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350	D;D;D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74	5.87	5.87	0.94306	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98289	0.9433	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.998;0.974;0.999;0.998	D	0.98463	1.0597	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	524;524;449;525	B3KV70;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	Q	525;337;525;421;527;524;525;449	ENSP00000318902:R525Q;ENSP00000419393:R525Q;ENSP00000418225:R421Q;ENSP00000420736:R527Q;ENSP00000418524:R524Q;ENSP00000418102:R525Q;ENSP00000417857:R449Q	ENSP00000318902:R525Q	R	-	2	0	FOXP1	71104474	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CGA		0.388	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		9	51	0	0	0	1	0	9	51				
HDAC3	8841	broad.mit.edu	37	5	141008863	141008863	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:141008863G>A	ENST00000305264.3	-	7	566	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	163	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TAGAGCACCCGAGGGTGGTAC	0.537																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(487-489)Cgg>Tgg		histone deacetylase 3	Vorinostat(DB02546)						88.0	86.0	86.0					5																	141008863		2203	4300	6503	SO:0001583	missense	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141008863G>A	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.487C>T	5.37:g.141008863G>A	ENSP00000302967:p.Arg163Trp						p.R163W	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	566	-			163			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	c.487C>T	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865413	0.71949	.	.	ENSG00000171720	ENST00000305264;ENST00000523088	D;T	0.83163	-1.69;0.55	5.61	5.61	0.85477	Histone deacetylase domain (2);	0.054132	0.64402	D	0.000001	D	0.95529	0.8547	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97365	0.9972	10	0.87932	D	0	-13.8126	19.2349	0.93855	0.0:0.0:1.0:0.0	.	88;163	E7ESJ6;O15379	.;HDAC3_HUMAN	W	163;88	ENSP00000302967:R163W;ENSP00000429099:R88W	ENSP00000302967:R163W	R	-	1	2	HDAC3	140989047	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.142000	0.64820	2.653000	0.90120	0.655000	0.94253	CGG		0.537	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		6	63	0	0	0	1	0	6	63				
KIAA1377	57562	broad.mit.edu	37	11	101828953	101828953	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:101828953G>T	ENST00000263468.8	+	5	831	c.561G>T	c.(559-561)caG>caT	p.Q187H	KIAA1377_ENST00000537689.1_5'UTR	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	187										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ACAAGCATCAGAAACAACTCT	0.358																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(559-561)caG>caT		KIAA1377							200.0	216.0	211.0					11																	101828953		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101828953G>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.561G>T	11.37:g.101828953G>T	ENSP00000263468:p.Gln187His					KIAA1377_ENST00000537689.1_5'UTR	p.Q187H	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	5	831	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	187					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.561G>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765070	0.31228	.	.	ENSG00000110318	ENST00000263468	T	0.10192	2.9	5.68	1.62	0.23740	.	0.104471	0.42548	N	0.000695	T	0.11750	0.0286	M	0.74881	2.28	0.80722	D	1	B	0.24368	0.102	B	0.24155	0.051	T	0.06162	-1.0842	10	0.45353	T	0.12	-0.9425	4.1279	0.10136	0.3276:0.0:0.5167:0.1556	.	187	Q9P2H0	K1377_HUMAN	H	187	ENSP00000263468:Q187H	ENSP00000263468:Q187H	Q	+	3	2	KIAA1377	101334163	1.000000	0.71417	0.944000	0.38274	0.663000	0.39108	1.537000	0.36083	0.296000	0.22592	0.650000	0.86243	CAG		0.358	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		50	213	1	0	2.52991e-16	1	2.75739e-16	50	213				
ZMIZ1	57178	broad.mit.edu	37	10	81072426	81072426	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:81072426G>A	ENST00000334512.5	+	25	3696	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K	ZMIZ1_ENST00000446377.2_Missense_Mutation_p.E108K	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1042					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AAATCCTGACGAGCTCCTGTC	0.567																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(3124-3126)Gag>Aag		zinc finger, MIZ-type containing 1							198.0	184.0	188.0					10																	81072426		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072426G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3124G>A	10.37:g.81072426G>A	ENSP00000334474:p.Glu1042Lys					ZMIZ1_ENST00000446377.2_Missense_Mutation_p.E108K	p.E1042K	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3696	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1042					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.3124G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821264	0.90873	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347;ENST00000446377	T	0.55588	0.51	5.16	5.16	0.70880	.	0.000000	0.41938	D	0.000781	T	0.73102	0.3544	M	0.75615	2.305	0.45634	D	0.998561	D;D	0.65815	0.995;0.992	D;P	0.68192	0.956;0.905	T	0.76465	-0.2949	10	0.87932	D	0	-18.6319	19.0003	0.92830	0.0:0.0:1.0:0.0	.	108;1042	B4DSG4;Q9ULJ6	.;ZMIZ1_HUMAN	K	1042;972;943;108	ENSP00000334474:E1042K	ENSP00000334474:E1042K	E	+	1	0	ZMIZ1	80742432	1.000000	0.71417	0.962000	0.40283	0.981000	0.71138	9.386000	0.97228	2.559000	0.86315	0.491000	0.48974	GAG		0.567	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		48	217	0	0	0	1	0	48	217				
RPL22	6146	broad.mit.edu	37	1	6253099	6253099	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:6253099C>T	ENST00000234875.4	-	3	171	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	RPL22_ENST00000484532.1_Missense_Mutation_p.E12K|RPL22_ENST00000497965.1_Missense_Mutation_p.E12K	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	45					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTGATCCTTTCTTGCAAAAAC	0.438			T	RUNX1	"""AML, CML"""																																	ENST00000234875.4				Dom	yes		1	1p36.31	6146	T	ribosomal protein L22 (EAP)			L	RUNX1		"""AML, CML"""		0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(133-135)Gaa>Aaa		ribosomal protein L22							92.0	96.0	95.0					1																	6253099		2203	4300	6503	SO:0001583	missense	6146				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	g.chr1:6253099C>T	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.133G>A	1.37:g.6253099C>T	ENSP00000346088:p.Glu45Lys					RPL22_ENST00000497965.1_Missense_Mutation_p.E12K|RPL22_ENST00000484532.1_Missense_Mutation_p.E12K	p.E45K	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	3	171	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	45					B2R495|Q6IBD1	Missense_Mutation	SNP	ENST00000234875.4	37	c.133G>A	CCDS58.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359216	0.82353	.	.	ENSG00000116251	ENST00000234875	T	0.47869	0.83	4.95	4.95	0.65309	.	0.152319	0.56097	N	0.000022	T	0.68961	0.3058	M	0.89840	3.065	0.58432	D	0.999993	D;D	0.56287	0.974;0.975	P;P	0.52856	0.711;0.654	T	0.78242	-0.2280	10	0.87932	D	0	0.1267	18.5522	0.91069	0.0:1.0:0.0:0.0	.	45;45	Q7Z4W8;P35268	.;RL22_HUMAN	K	45	ENSP00000346088:E45K	ENSP00000346088:E45K	E	-	1	0	RPL22	6175686	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.916000	0.69981	2.453000	0.82957	0.591000	0.81541	GAA		0.438	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983		24	72	0	0	0	1	0	24	72				
HIAT1	64645	broad.mit.edu	37	1	100546054	100546054	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:100546054G>T	ENST00000370152.3	+	11	1241	c.1105G>T	c.(1105-1107)Gtc>Ttc	p.V369F	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	369					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAATGTAGGTGTCGTTCAAGG	0.348																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(1105-1107)Gtc>Ttc		hippocampus abundant transcript 1							124.0	123.0	123.0					1																	100546054		2203	4300	6503	SO:0001583	missense	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100546054G>T	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.1105G>T	1.37:g.100546054G>T	ENSP00000359171:p.Val369Phe					RP4-714D9.2_ENST00000432294.1_RNA	p.V369F	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	11	1241	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	369					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	c.1105G>T	CCDS763.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593802	0.86953	.	.	ENSG00000156875	ENST00000370152	T	0.79141	-1.24	5.54	5.54	0.83059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000011	D	0.86789	0.6017	M	0.80616	2.505	0.80722	D	1	D	0.53885	0.963	D	0.64687	0.928	D	0.87005	0.2119	10	0.56958	D	0.05	-30.714	19.4686	0.94952	0.0:0.0:1.0:0.0	.	369	Q96MC6	HIAT1_HUMAN	F	369	ENSP00000359171:V369F	ENSP00000359171:V369F	V	+	1	0	HIAT1	100318642	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	9.813000	0.99286	2.608000	0.88229	0.655000	0.94253	GTC		0.348	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		24	90	1	0	6.44725e-10	1	6.87707e-10	24	90				
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		53	Substitution - Missense(53)	p.R88Q(53)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(262-264)cGa>cAa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							107.0	102.0	104.0					3																	178916876		1821	4078	5899	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916876G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R88Q	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			40	100	0	0	0	1	0	40	100				
DNAH2	146754	broad.mit.edu	37	17	7673616	7673616	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:7673616G>C	ENST00000572933.1	+	25	5448	c.3988G>C	c.(3988-3990)Gaa>Caa	p.E1330Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1330Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1330	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTTTGATCAGGAATCTGAAAG	0.532																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(3988-3990)Gaa>Caa		dynein, axonemal, heavy chain 2							104.0	101.0	102.0					17																	7673616		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7673616G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3988G>C	17.37:g.7673616G>C	ENSP00000458355:p.Glu1330Gln					DNAH2_ENST00000389173.2_Missense_Mutation_p.E1330Q	p.E1330Q			Q9P225	DYH2_HUMAN			25	5448	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1330			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.3988G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272790	0.40194	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61392	0.11	5.45	5.45	0.79879	Dynein heavy chain, domain-2 (1);	0.201515	0.42682	D	0.000677	T	0.50803	0.1637	L	0.38953	1.18	0.80722	D	1	B	0.29270	0.24	B	0.35727	0.209	T	0.51212	-0.8734	10	0.49607	T	0.09	.	11.8688	0.52509	0.0816:0.0:0.9184:0.0	.	1330	Q9P225	DYH2_HUMAN	Q	1330	ENSP00000373825:E1330Q	ENSP00000353818:E1330Q	E	+	1	0	DNAH2	7614341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.785000	0.55424	2.705000	0.92388	0.650000	0.86243	GAA		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		9	68	0	0	0	1	0	9	68				
AHNAK	79026	broad.mit.edu	37	11	62294856	62294856	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:62294856C>G	ENST00000378024.4	-	5	7307	c.7033G>C	c.(7033-7035)Gaa>Caa	p.E2345Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2345					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCCAATTCTGGACCTTTT	0.443																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7033-7035)Gaa>Caa		AHNAK nucleoprotein							128.0	138.0	135.0					11																	62294856		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294856C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7033G>C	11.37:g.62294856C>G	ENSP00000367263:p.Glu2345Gln					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.E2345Q	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7307	-		Melanoma(852;0.155)	2345					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7033G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	4.982	0.182445	0.09495	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00711	5.8	3.58	3.58	0.41010	.	1.893930	0.03055	N	0.155095	T	0.02304	0.0071	M	0.81179	2.53	0.09310	N	0.999998	B	0.21147	0.052	B	0.18561	0.022	T	0.63134	-0.6705	10	0.26408	T	0.33	-4.9429	15.7125	0.77641	0.0:1.0:0.0:0.0	.	2345	Q09666	AHNK_HUMAN	Q	434;2345	ENSP00000367263:E2345Q	ENSP00000244934:E434Q	E	-	1	0	AHNAK	62051432	0.010000	0.17322	0.027000	0.17364	0.818000	0.46254	1.103000	0.31062	1.928000	0.55862	0.298000	0.19748	GAA		0.443	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		38	153	0	0	0	1	0	38	153				
CYP3A43	64816	broad.mit.edu	37	7	99445814	99445814	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:99445814G>C	ENST00000354829.2	+	6	561	c.458G>C	c.(457-459)gGa>gCa	p.G153A	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Missense_Mutation_p.W15C|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G153A|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G153A	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	153			Missing (in allele CYP3A43*2).		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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TCCCAATGTGGAGATATGTTG	0.473																																						ENST00000354829.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(457-459)gGa>gCa		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						183.0	143.0	157.0					7																	99445814		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99445814G>C	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.458G>C	7.37:g.99445814G>C	ENSP00000346887:p.Gly153Ala					CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G153A|CYP3A43_ENST00000342499.4_Missense_Mutation_p.W15C|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G153A|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron	p.G153A	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN			6	561	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		153		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.458G>C	CCDS5676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.706|5.706	0.314748|0.314748	0.10789|0.10789	.|.	.|.	ENSG00000021461|ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382|ENST00000342499	T;T;T|T	0.64260|0.78246	-0.09;-0.09;-0.09|-1.16	2.91|2.91	2.0|2.0	0.26442|0.26442	.|.	0.589854|.	0.17792|.	N|.	0.161854|.	T|T	0.71753|0.71753	0.3377|0.3377	L|L	0.31752|0.31752	0.955|0.955	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B|D	0.29232|0.56968	0.238;0.016;0.016|0.978	B;B;B|P	0.24394|0.51385	0.053;0.02;0.02|0.668	T|T	0.61158|0.61158	-0.7119|-0.7119	10|9	0.23891|0.87932	T|D	0.37|0	.|.	6.447|6.447	0.21882|0.21882	0.1562:0.0:0.8438:0.0|0.1562:0.0:0.8438:0.0	.|.	153;153;153|15	Q9HB55-3;Q75MK2;Q9HB55|F8W6L8	.;.;CP343_HUMAN|.	A|C	153|15	ENSP00000346887:G153A;ENSP00000312110:G153A;ENSP00000222382:G153A|ENSP00000345351:W15C	ENSP00000222382:G153A|ENSP00000345351:W15C	G|W	+|+	2|3	0|0	CYP3A43|CYP3A43	99283750|99283750	1.000000|1.000000	0.71417|0.71417	0.160000|0.160000	0.22671|0.22671	0.304000|0.304000	0.27724|0.27724	0.494000|0.494000	0.22467|0.22467	0.496000|0.496000	0.27904|0.27904	0.205000|0.205000	0.17691|0.17691	GGA|TGG		0.473	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			6	33	0	0	0	1	0	6	33				
OR7G3	390883	broad.mit.edu	37	19	9237262	9237262	+	Missense_Mutation	SNP	C	C	G	rs144765135		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:9237262C>G	ENST00000305444.2	-	1	364	c.365G>C	c.(364-366)cGa>cCa	p.R122P		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGCCACAAATCGATCATAGGC	0.473																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(364-366)cGa>cCa		olfactory receptor, family 7, subfamily G, member 3							103.0	99.0	101.0					19																	9237262		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237262C>G		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.365G>C	19.37:g.9237262C>G	ENSP00000302867:p.Arg122Pro						p.R122P	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	364	-			122					Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.365G>C	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320242	0.41096	.	.	ENSG00000170920	ENST00000305444	T	0.77620	-1.11	3.96	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37809	U	0.001921	D	0.91408	0.7289	H	0.99156	4.45	0.33733	D	0.618447	D	0.65815	0.995	P	0.62560	0.904	D	0.94511	0.7718	10	0.87932	D	0	.	10.8168	0.46580	0.0:0.9044:0.0:0.0956	.	122	Q8NG95	OR7G3_HUMAN	P	122	ENSP00000302867:R122P	ENSP00000302867:R122P	R	-	2	0	OR7G3	9098262	0.289000	0.24334	0.045000	0.18777	0.160000	0.22226	4.794000	0.62482	1.050000	0.40346	0.551000	0.68910	CGA		0.473	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			16	103	0	0	0	1	0	16	103				
POLR1A	25885	broad.mit.edu	37	2	86280055	86280055	+	Silent	SNP	G	G	A	rs377139231		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:86280055G>A	ENST00000263857.6	-	16	2655	c.2277C>T	c.(2275-2277)taC>taT	p.Y759Y	POLR1A_ENST00000409681.1_Silent_p.Y759Y|POLR1A_ENST00000483538.1_5'Flank			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	759					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGACCAGGCCGTAGGCGGAGC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13330	0.0		0.0	False		,,,				2504	0.0					ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2275-2277)taC>taT		polymerase (RNA) I polypeptide A, 194kDa		G		1,4107		0,1,2053	33.0	38.0	36.0		2277	-1.8	1.0	2		36	0,8400		0,0,4200	no	coding-synonymous	POLR1A	NM_015425.3		0,1,6253	AA,AG,GG		0.0,0.0243,0.0080		759/1721	86280055	1,12507	2054	4200	6254	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86280055G>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2277C>T	2.37:g.86280055G>A						POLR1A_ENST00000409681.1_Silent_p.Y759Y	p.Y759Y			O95602	RPA1_HUMAN			16	2655	-			759					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.2277C>T	CCDS42706.1																																																																																				0.627	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		13	25	0	0	0	1	0	13	25				
CCDC114	93233	broad.mit.edu	37	19	48800551	48800551	+	Silent	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:48800551G>C	ENST00000315396.7	-	14	2377	c.1695C>G	c.(1693-1695)ctC>ctG	p.L565L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	565					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TGCTGGAGCTGAGGCCGCCAA	0.642																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1693-1695)ctC>ctG		coiled-coil domain containing 114							50.0	50.0	50.0					19																	48800551		2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48800551G>C	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1695C>G	19.37:g.48800551G>C							p.L565L	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2377	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	565					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.1695C>G	CCDS12714.2																																																																																				0.642	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		24	60	0	0	0	1	0	24	60				
MTBP	27085	broad.mit.edu	37	8	121528214	121528214	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr8:121528214G>A	ENST00000305949.1	+	18	2074	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	677	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGATTTTCTGAACTTCAGTC	0.403																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2029-2031)Gaa>Aaa		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							114.0	110.0	112.0					8																	121528214		2203	4299	6502	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121528214G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2029G>A	8.37:g.121528214G>A	ENSP00000303398:p.Glu677Lys						p.E677K	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		18	2074	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		677			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2029G>A	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604841	0.66445	.	.	ENSG00000172167	ENST00000305949	.	.	.	6.07	5.19	0.71726	.	0.111159	0.64402	D	0.000011	T	0.53270	0.1786	L	0.56769	1.78	0.43936	D	0.99659	P	0.39759	0.687	B	0.39503	0.301	T	0.47873	-0.9083	9	0.12103	T	0.63	-28.3544	15.8057	0.78506	0.0659:0.0:0.9341:0.0	.	677	Q96DY7	MTBP_HUMAN	K	677	.	ENSP00000303398:E677K	E	+	1	0	MTBP	121597395	1.000000	0.71417	0.983000	0.44433	0.973000	0.67179	3.213000	0.51153	2.885000	0.99019	0.655000	0.94253	GAA		0.403	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		22	39	0	0	0	1	0	22	39				
CD177	57126	broad.mit.edu	37	19	43866475	43866475	+	RNA	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:43866475C>G	ENST00000607109.1	-	0	300				CD177_ENST00000378009.4_RNA|CD177_ENST00000607517.1_RNA																							CCTGCTAACTCTATTACCCCC	0.592																																						ENST00000378009.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5								CD177 molecule							14.0	15.0	15.0					19																	43866475		2006	4153	6159			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43866475C>G																													19.37:g.43866475C>G						CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA		NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN			0	1478	+		Prostate(69;0.00682)							RNA	SNP	ENST00000607109.1	37																																																																																						0.592	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1			3	10	0	0	0	1	0	3	10				
PLCE1	51196	broad.mit.edu	37	10	96030304	96030304	+	Missense_Mutation	SNP	C	C	G	rs121912605		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:96030304C>G	ENST00000371380.3	+	17	4686	c.4451C>G	c.(4450-4452)tCg>tGg	p.S1484W	PLCE1_ENST00000371375.1_Missense_Mutation_p.S1176W|PLCE1_ENST00000371385.3_Missense_Mutation_p.S1176W|PLCE1_ENST00000260766.3_Missense_Mutation_p.S1484W			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1484	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis). {ECO:0000269|PubMed:17086182}.		activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCATCATATCGATTGAGAAC	0.438																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8	GRCh37	CM066177	PLCE1	M	rs121912605	c.(4450-4452)tCg>tGg		phospholipase C, epsilon 1							132.0	126.0	128.0					10																	96030304		1989	4160	6149	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96030304C>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4451C>G	10.37:g.96030304C>G	ENSP00000360431:p.Ser1484Trp					PLCE1_ENST00000371375.1_Missense_Mutation_p.S1176W|PLCE1_ENST00000371380.2_Missense_Mutation_p.S1484W|PLCE1_ENST00000371385.3_Missense_Mutation_p.S1176W	p.S1484W	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			18	5085	+		Colorectal(252;0.0458)	1484		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis).	PI-PLC X-box.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.4451C>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601757	0.87055	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000001	D	0.84902	0.5575	H	0.96748	3.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89768	0.3952	10	0.87932	D	0	.	19.0562	0.93066	0.0:1.0:0.0:0.0	.	1468;1176;1484	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	W	1484;1484;1176;1176	ENSP00000260766:S1484W;ENSP00000360431:S1484W;ENSP00000360438:S1176W;ENSP00000360426:S1176W	ENSP00000260766:S1484W	S	+	2	0	PLCE1	96020294	1.000000	0.71417	0.962000	0.40283	0.898000	0.52572	7.776000	0.85560	2.676000	0.91093	0.557000	0.71058	TCG		0.438	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		17	64	0	0	0	1	0	17	64				
PPFIA3	8541	broad.mit.edu	37	19	49652942	49652942	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:49652942C>T	ENST00000334186.4	+	28	3842	c.3493C>T	c.(3493-3495)Ccg>Tcg	p.P1165S	PPFIA3_ENST00000602351.1_Missense_Mutation_p.P1156S	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1165					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.G1160fs*>21(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCTGGGCTCTCCGGGGCTCCC	0.642																																						ENST00000334186.4																			2	Deletion - Frameshift(2)	p.G1160fs*>21(2)	liver(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(3493-3495)Ccg>Tcg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							16.0	20.0	19.0					19																	49652942		2202	4298	6500	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49652942C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3493C>T	19.37:g.49652942C>T	ENSP00000335614:p.Pro1165Ser					PPFIA3_ENST00000602351.1_Missense_Mutation_p.P1156S	p.P1165S	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	28	3842	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	1165					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.3493C>T	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.479732	0.63849	.	.	ENSG00000177380	ENST00000334186	T	0.18174	2.23	4.08	4.08	0.47627	.	0.000000	0.45126	U	0.000381	T	0.21631	0.0521	M	0.65975	2.015	0.80722	D	1	B;B	0.32573	0.001;0.376	B;B	0.30401	0.006;0.115	T	0.11792	-1.0573	10	0.72032	D	0.01	-24.1734	15.6421	0.77012	0.0:1.0:0.0:0.0	.	1156;1165	O75145-2;O75145	.;LIPA3_HUMAN	S	1165	ENSP00000335614:P1165S	ENSP00000335614:P1165S	P	+	1	0	PPFIA3	54344754	0.998000	0.40836	0.945000	0.38365	0.892000	0.51952	7.200000	0.77838	2.294000	0.77228	0.456000	0.33151	CCG		0.642	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		5	39	0	0	0	1	0	5	39				
ARSE	415	broad.mit.edu	37	X	2854807	2854807	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrX:2854807C>T	ENST00000381134.3	-	10	1453	c.1387G>A	c.(1387-1389)Gca>Aca	p.A463T	ARSE_ENST00000545496.1_Missense_Mutation_p.A488T|ARSE_ENST00000540563.1_Missense_Mutation_p.A418T	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	463					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCTGGCTGCGTGCAGAAAC	0.557																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1462-1464)Gca>Aca		arylsulfatase E (chondrodysplasia punctata 1)							121.0	82.0	95.0					X																	2854807		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2854807C>T	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1387G>A	X.37:g.2854807C>T	ENSP00000370526:p.Ala463Thr					ARSE_ENST00000540563.1_Missense_Mutation_p.A418T|ARSE_ENST00000381134.3_Missense_Mutation_p.A463T	p.A488T			P51690	ARSE_HUMAN			11	1753	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	463					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.1462G>A	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149316	0.37923	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.96967	-4.19;-4.19;-4.19	3.67	3.67	0.42095	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.062207	0.64402	U	0.000005	D	0.96852	0.8972	M	0.77406	2.37	0.54753	D	0.999981	P;P;D	0.53885	0.901;0.949;0.963	P;B;P	0.53006	0.47;0.428;0.715	D	0.96517	0.9383	10	0.46703	T	0.11	.	14.7489	0.69511	0.0:1.0:0.0:0.0	.	418;488;463	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	T	418;488;463	ENSP00000438198:A418T;ENSP00000441417:A488T;ENSP00000370526:A463T	ENSP00000370526:A463T	A	-	1	0	ARSE	2864807	1.000000	0.71417	0.652000	0.29579	0.004000	0.04260	4.042000	0.57347	1.451000	0.47736	0.468000	0.43344	GCA		0.557	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		11	7	0	0	0	1	0	11	7				
RNASE3	6037	broad.mit.edu	37	14	21360228	21360228	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr14:21360228G>C	ENST00000304639.3	+	2	441	c.383G>C	c.(382-384)aGa>aCa	p.R128T		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	128					antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TATGCAGACAGACCAGGAAGG	0.473																																						ENST00000304639.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9						c.(382-384)aGa>aCa		ribonuclease, RNase A family, 3	Pranlukast(DB01411)						91.0	91.0	91.0					14																	21360228		2188	4300	6488	SO:0001583	missense	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21360228G>C	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.383G>C	14.37:g.21360228G>C	ENSP00000302324:p.Arg128Thr						p.R128T	NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	441	+	all_cancers(95;0.00453)		128					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Missense_Mutation	SNP	ENST00000304639.3	37	c.383G>C	CCDS9560.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.241672	0.00022	.	.	ENSG00000169397	ENST00000304639	T	0.70631	-0.5	2.38	-4.77	0.03219	Ribonuclease A, domain (4);	1.228950	0.06263	N	0.694379	T	0.30792	0.0776	N	0.01128	-1	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.04090	-1.0978	10	0.02654	T	1	.	3.3133	0.07024	0.1138:0.1587:0.4519:0.2756	.	128	P12724	ECP_HUMAN	T	128	ENSP00000302324:R128T	ENSP00000302324:R128T	R	+	2	0	RNASE3	20430068	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.289000	0.00072	-5.177000	0.00020	-4.529000	0.00005	AGA		0.473	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		22	62	0	0	0	1	0	22	62				
NLRP10	338322	broad.mit.edu	37	11	7982421	7982421	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:7982421G>A	ENST00000328600.2	-	2	899	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	246	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATCCAGGATGAACAGGAGCC	0.537																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(736-738)ttC>ttT		NLR family, pyrin domain containing 10							43.0	44.0	44.0					11																	7982421		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7982421G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.738C>T	11.37:g.7982421G>A							p.F246F	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	899	-			246			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.738C>T	CCDS7784.1																																																																																				0.537	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		4	63	0	0	0	1	0	4	63				
FCHO2	115548	broad.mit.edu	37	5	72311471	72311471	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:72311471G>A	ENST00000430046.2	+	7	735	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	FCHO2_ENST00000341845.6_Missense_Mutation_p.E207K|FCHO2_ENST00000287761.6_Missense_Mutation_p.E207K|FCHO2_ENST00000512348.1_Intron	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	207	Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AGATATTGAAGAAACTCATCT	0.289																																						ENST00000430046.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(619-621)Gaa>Aaa		FCH domain only 2							70.0	70.0	70.0					5																	72311471		1792	4054	5846	SO:0001583	missense	115548							g.chr5:72311471G>A	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.619G>A	5.37:g.72311471G>A	ENSP00000393776:p.Glu207Lys					FCHO2_ENST00000512348.1_Intron|FCHO2_ENST00000341845.6_Missense_Mutation_p.E207K|FCHO2_ENST00000287761.6_Missense_Mutation_p.E207K	p.E207K	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	7	735	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	207					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	ENST00000430046.2	37	c.619G>A	CCDS47230.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295890	0.81025	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000287761	T;T;T	0.50813	0.73;0.73;0.73	5.62	4.74	0.60224	.	0.092163	0.64402	D	0.000001	T	0.57095	0.2030	M	0.76170	2.325	0.58432	D	0.999996	P;B	0.50272	0.933;0.064	P;B	0.48270	0.572;0.012	T	0.60697	-0.7212	10	0.39692	T	0.17	-16.644	16.2255	0.82286	0.0:0.1332:0.8668:0.0	.	207;207	Q0JRZ9-2;Q0JRZ9	.;FCHO2_HUMAN	K	207	ENSP00000393776:E207K;ENSP00000344034:E207K;ENSP00000287761:E207K	ENSP00000287761:E207K	E	+	1	0	FCHO2	72347227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.897000	0.56273	1.363000	0.46019	0.650000	0.86243	GAA		0.289	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		5	29	0	0	0	1	0	5	29				
NEDD9	4739	broad.mit.edu	37	6	11213618	11213618	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:11213618G>C	ENST00000379446.5	-	2	521	c.355C>G	c.(355-357)Caa>Gaa	p.Q119E	NEDD9_ENST00000379433.5_Missense_Mutation_p.Q119E|RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.Q119E	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	119	Interacts strongly with spindle- regulatory protein D1M1.				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)			GTGGGGACTTGGTAAATTCCC	0.547																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(355-357)Caa>Gaa		neural precursor cell expressed, developmentally down-regulated 9							172.0	165.0	168.0					6																	11213618		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.chr6:11213618G>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.355C>G	6.37:g.11213618G>C	ENSP00000368759:p.Gln119Glu					NEDD9_ENST00000504387.1_Missense_Mutation_p.Q119E|RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000379433.5_Missense_Mutation_p.Q119E	p.Q119E	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		2	521	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	119			Interacts strongly with spindle- regulatory protein D1M1.		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.355C>G	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109233	0.77096	.	.	ENSG00000111859	ENST00000379446;ENST00000504387;ENST00000379433	T;T;T	0.66280	0.91;1.04;-0.2	5.75	5.75	0.90469	.	0.333144	0.35838	N	0.002955	T	0.64316	0.2587	M	0.76002	2.32	0.54753	D	0.999981	P;P;P	0.50617	0.934;0.66;0.937	P;B;P	0.51170	0.661;0.155;0.527	T	0.66594	-0.5884	10	0.46703	T	0.11	-18.4101	14.7519	0.69533	0.0:0.0:0.8555:0.1445	.	119;119;119	G5E9Y9;Q5XKI0;Q14511	.;.;CASL_HUMAN	E	119	ENSP00000368759:Q119E;ENSP00000422871:Q119E;ENSP00000368745:Q119E	ENSP00000368745:Q119E	Q	-	1	0	NEDD9	11321604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.233000	0.78125	2.706000	0.92434	0.655000	0.94253	CAA		0.547	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		10	158	0	0	0	1	0	10	158				
ITSN2	50618	broad.mit.edu	37	2	24432036	24432036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:24432036C>A	ENST00000355123.4	-	36	4971	c.4528G>T	c.(4528-4530)Gag>Tag	p.E1510*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.E1483*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1510	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGACAGGCTCATCGCTGGAA	0.502																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4528-4530)Gag>Tag		intersectin 2							133.0	114.0	121.0					2																	24432036		2203	4300	6503	SO:0001587	stop_gained	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24432036C>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4528G>T	2.37:g.24432036C>A	ENSP00000347244:p.Glu1510*					ITSN2_ENST00000361999.3_Nonsense_Mutation_p.E1483*	p.E1510*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			36	4971	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1510			PH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	c.4528G>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	46	12.727584	0.99691	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	.	.	.	4.72	4.72	0.59763	.	0.193796	0.23760	U	0.044827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.1278	0.89591	0.0:1.0:0.0:0.0	.	.	.	.	X	1483;1510;1483	.	ENSP00000347244:E1510X	E	-	1	0	ITSN2	24285540	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.479000	0.81095	2.351000	0.79841	0.549000	0.68633	GAG		0.502	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		6	49	1	0	8.12818e-05	1	8.31528e-05	6	49				
HIVEP3	59269	broad.mit.edu	37	1	42047722	42047722	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:42047722G>A	ENST00000372583.1	-	4	3632	c.2747C>T	c.(2746-2748)tCa>tTa	p.S916L	HIVEP3_ENST00000372584.1_Missense_Mutation_p.S916L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S916L|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S916L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	916	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCCCCTGATGATTGGGCCAT	0.597																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(2746-2748)tCa>tTa		human immunodeficiency virus type I enhancer binding protein 3							86.0	93.0	91.0					1																	42047722		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047722G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2747C>T	1.37:g.42047722G>A	ENSP00000361664:p.Ser916Leu					HIVEP3_ENST00000372583.1_Missense_Mutation_p.S916L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S916L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S916L	p.S916L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	3761	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	916			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2747C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845675	0.91197	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.95	4.95	0.65309	.	0.000000	0.42548	D	0.000681	T	0.39937	0.1097	M	0.76727	2.345	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.28618	-1.0038	10	0.87932	D	0	0.7759	17.9567	0.89072	0.0:0.0:1.0:0.0	.	916;916	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	916	ENSP00000361665:S916L;ENSP00000361664:S916L;ENSP00000247584:S916L;ENSP00000410828:S916L	ENSP00000247584:S916L	S	-	2	0	HIVEP3	41820309	1.000000	0.71417	0.977000	0.42913	0.941000	0.58515	9.657000	0.98554	2.562000	0.86427	0.462000	0.41574	TCA		0.597	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		39	200	0	0	0	1	0	39	200				
KEL	3792	broad.mit.edu	37	7	142658159	142658159	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:142658159G>A	ENST00000355265.2	-	4	730	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	86					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TAATGATCCCGGAGATCCAAA	0.542																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(256-258)Cgg>Tgg		Kell blood group, metallo-endopeptidase							58.0	58.0	58.0					7																	142658159		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658159G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.256C>T	7.37:g.142658159G>A	ENSP00000347409:p.Arg86Trp					KEL_ENST00000479768.2_5'UTR	p.R86W	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			4	730	-	Melanoma(164;0.059)		86					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.256C>T	CCDS34766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.62|13.62	2.292133|2.292133	0.40594|0.40594	.|.	.|.	ENSG00000197993|ENSG00000197993	ENST00000460479|ENST00000355265;ENST00000476829;ENST00000467543	.|D;D;D	.|0.82081	.|-1.57;-1.57;-1.57	5.45|5.45	-0.204|-0.204	0.13200|0.13200	.|.	.|1.777830	.|0.03077	.|N	.|0.157978	T|T	0.67420|0.67420	0.2891|0.2891	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P	.|0.50617	.|0.937	.|B	.|0.38296	.|0.27	T|T	0.64283|0.64283	-0.6444|-0.6444	5|10	.|0.87932	.|D	.|0	-14.717|-14.717	8.9333|8.9333	0.35684|0.35684	0.0:0.3511:0.3864:0.2625|0.0:0.3511:0.3864:0.2625	.|.	.|86	.|P23276	.|KELL_HUMAN	L|W	96|86;86;67	.|ENSP00000347409:R86W;ENSP00000419889:R86W;ENSP00000420011:R67W	.|ENSP00000347409:R86W	P|R	-|-	2|1	0|2	KEL|KEL	142368281|142368281	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.032000|0.032000	0.12392|0.12392	-0.003000|-0.003000	0.12901|0.12901	0.201000|0.201000	0.20466|0.20466	-0.274000|-0.274000	0.10170|0.10170	CCG|CGG		0.542	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		15	66	0	0	0	1	0	15	66				
YY1AP1	55249	broad.mit.edu	37	1	155642519	155642519	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:155642519C>G	ENST00000295566.4	-	7	636	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	YY1AP1_ENST00000405763.3_Missense_Mutation_p.E277Q|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E128Q|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E139Q|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368340.5_Missense_Mutation_p.E277Q|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E128Q|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E277Q|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E139Q|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E139Q|YY1AP1_ENST00000438245.2_Missense_Mutation_p.E139Q|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E139Q|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E128Q|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E128Q|YY1AP1_ENST00000535662.1_Missense_Mutation_p.E5Q	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	205					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GTTCCCAGCTCTTTCTGGGAA	0.448																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(829-831)Gag>Cag		YY1 associated protein 1							122.0	114.0	116.0					1																	155642519		2203	4300	6503	SO:0001583	missense	55249							g.chr1:155642519C>G	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.613G>C	1.37:g.155642519C>G	ENSP00000295566:p.Glu205Gln					YY1AP1_ENST00000295566.4_Missense_Mutation_p.E205Q|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E139Q|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E128Q|YY1AP1_ENST00000535662.1_Missense_Mutation_p.E5Q|YY1AP1_ENST00000438245.2_Missense_Mutation_p.E139Q|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E128Q|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E128Q|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E128Q|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E139Q|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E277Q|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000405763.3_Missense_Mutation_p.E277Q|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E139Q|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E139Q	p.E277Q	NM_001198904.1	NP_001185833.1					6	937	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.829G>C	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.191890	0.58017	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T;T	0.49720	1.09;1.09;0.8;1.09;1.09;0.77;0.78;1.09;0.8;0.8;1.07;1.29	3.4	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	M	0.74881	2.28	0.43218	D	0.995094	B;D;D;P;D;D;P;D	0.76494	0.25;0.971;0.999;0.787;0.992;0.999;0.911;0.997	B;P;D;P;D;D;P;P	0.80764	0.076;0.892;0.994;0.479;0.921;0.994;0.665;0.892	T	0.65697	-0.6105	10	0.72032	D	0.01	.	13.1559	0.59516	0.0:1.0:0.0:0.0	.	139;205;277;139;277;205;139;277	B4DZQ4;B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;.;YYAP1_HUMAN;.;.	Q	128;139;128;139;128;277;205;139;128;139;277;5;277;139;128;139	ENSP00000352134:E128Q;ENSP00000347686:E139Q;ENSP00000311138:E128Q;ENSP00000316079:E139Q;ENSP00000355298:E128Q;ENSP00000357324:E277Q;ENSP00000295566:E205Q;ENSP00000357314:E139Q;ENSP00000385791:E128Q;ENSP00000385390:E139Q;ENSP00000357323:E277Q;ENSP00000437926:E5Q	ENSP00000295566:E205Q	E	-	1	0	YY1AP1	153909143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.928000	0.63447	1.897000	0.54924	0.558000	0.71614	GAG		0.448	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		6	57	0	0	0	1	0	6	57				
VPS52	6293	broad.mit.edu	37	6	33232653	33232653	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:33232653C>T	ENST00000445902.2	-	13	1524	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	VPS52_ENST00000436044.2_Missense_Mutation_p.D311N|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	436					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCGTAGCAGTCAGCTAGATAA	0.448																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1306-1308)Gac>Aac		vacuolar protein sorting 52 homolog (S. cerevisiae)							282.0	260.0	268.0					6																	33232653		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33232653C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1306G>A	6.37:g.33232653C>T	ENSP00000409952:p.Asp436Asn					VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.D311N|VPS52_ENST00000478934.1_5'UTR	p.D436N	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			13	1524	-			436					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1306G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705798	0.68615	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.2	5.2	0.72013	.	0.047761	0.85682	D	0.000000	T	0.22437	0.0541	N	0.24115	0.695	0.80722	D	1	P;B	0.37207	0.587;0.097	B;B	0.35039	0.194;0.065	T	0.07158	-1.0787	9	0.10902	T	0.67	-26.5694	16.6301	0.85031	0.0:1.0:0.0:0.0	.	247;436	B3KMF7;Q8N1B4	.;VPS52_HUMAN	N	436;414;311	.	ENSP00000414785:D414N	D	-	1	0	VPS52	33340631	1.000000	0.71417	0.972000	0.41901	0.915000	0.54546	6.293000	0.72731	2.875000	0.98604	0.643000	0.83706	GAC		0.448	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		33	142	0	0	0	1	0	33	142				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		7	319	1	0	2.0095e-06	1	2.08238e-06	7	319				
HIVEP3	59269	broad.mit.edu	37	1	42045430	42045430	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:42045430G>T	ENST00000372583.1	-	4	5924	c.5039C>A	c.(5038-5040)tCc>tAc	p.S1680Y	HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1680Y|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1680Y|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1680Y	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1680					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCTTGCGGGAGCTGGATGG	0.512																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(5038-5040)tCc>tAc		human immunodeficiency virus type I enhancer binding protein 3							61.0	62.0	62.0					1																	42045430		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045430G>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5039C>A	1.37:g.42045430G>T	ENSP00000361664:p.Ser1680Tyr					HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1680Y|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1680Y|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1680Y	p.S1680Y	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	6053	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1680					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5039C>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639349	0.47153	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07216	3.22;3.21;3.21;3.22	5.51	5.51	0.81932	.	0.000000	0.53938	D	0.000054	T	0.22437	0.0541	L	0.53249	1.67	0.49051	D	0.999741	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.956	T	0.00022	-1.2341	10	0.48119	T	0.1	-0.4722	12.5241	0.56077	0.0761:0.0:0.9239:0.0	.	1680;1680	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Y	1680	ENSP00000361665:S1680Y;ENSP00000361664:S1680Y;ENSP00000247584:S1680Y;ENSP00000410828:S1680Y	ENSP00000247584:S1680Y	S	-	2	0	HIVEP3	41818017	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.788000	0.47806	2.873000	0.98535	0.561000	0.74099	TCC		0.512	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		19	81	1	0	2.21704e-12	1	2.39033e-12	19	81				
C22orf42	150297	broad.mit.edu	37	22	32555103	32555103	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr22:32555103C>T	ENST00000382097.3	-	1	172	c.100G>A	c.(100-102)Gag>Aag	p.E34K	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	34										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GCCACAGTCTCAGGAATCTCA	0.577																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(100-102)Gag>Aag		chromosome 22 open reading frame 42							102.0	89.0	94.0					22																	32555103		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32555103C>T	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.100G>A	22.37:g.32555103C>T	ENSP00000371529:p.Glu34Lys						p.E34K	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			1	172	-			34					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.100G>A	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	C	2.826	-0.243747	0.05906	.	.	ENSG00000205856	ENST00000382097	T	0.34859	1.34	0.131	0.131	0.14755	.	.	.	.	.	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	P	0.45594	0.862	B	0.34722	0.188	T	0.12167	-1.0558	8	0.59425	D	0.04	.	.	.	.	.	34	Q6IC83	CV042_HUMAN	K	34	ENSP00000371529:E34K	ENSP00000371529:E34K	E	-	1	0	C22orf42	30885103	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-1.008000	0.03663	0.171000	0.19730	0.174000	0.16983	GAG		0.577	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		4	116	0	0	0	1	0	4	116				
CCNB1IP1	57820	broad.mit.edu	37	14	20779857	20779857	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr14:20779857C>A	ENST00000398169.3	-	7	1302	c.686G>T	c.(685-687)gGa>gTa	p.G229V	CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.G229V			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	229					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		ATCTCCATCTCCATCGCCCCG	0.398			T	HMGA2	leiomyoma																																	ENST00000398169.3				Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(685-687)gGa>gTa		cyclin B1 interacting protein 1, E3 ubiquitin protein ligase							94.0	96.0	95.0					14																	20779857		2203	4300	6503	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20779857C>A	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.686G>T	14.37:g.20779857C>A	ENSP00000381235:p.Gly229Val					CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.G229V|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.G229V	p.G229V			Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	7	1302	-	all_cancers(95;0.00092)	all_lung(585;0.235)	229						Missense_Mutation	SNP	ENST00000398169.3	37	c.686G>T	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385541	0.61956	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163	.	.	.	5.19	5.19	0.71726	.	0.299857	0.32473	N	0.006059	T	0.63034	0.2477	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.56655	-0.7943	9	0.18710	T	0.47	-15.9027	15.9906	0.80202	0.0:1.0:0.0:0.0	.	229	Q9NPC3	CIP1_HUMAN	V	229	.	ENSP00000337396:G229V	G	-	2	0	CCNB1IP1	19849697	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.371000	0.59523	2.573000	0.86826	0.650000	0.86243	GGA		0.398	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		27	97	1	0	3.1745e-13	1	3.43189e-13	27	97				
EHD1	10938	broad.mit.edu	37	11	64627491	64627491	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:64627491C>T	ENST00000320631.3	-	3	1074	c.820G>A	c.(820-822)Gag>Aag	p.E274K	EHD1_ENST00000359393.2_Missense_Mutation_p.E274K	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	274	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TCCTGCTCCTCGGCCTCAAAG	0.612																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(820-822)Gag>Aag		EH-domain containing 1							58.0	58.0	58.0					11																	64627491		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64627491C>T	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.820G>A	11.37:g.64627491C>T	ENSP00000320516:p.Glu274Lys					EHD1_ENST00000359393.2_Missense_Mutation_p.E274K	p.E274K	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			3	1074	-			274					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.820G>A	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	C	36	5.766115	0.96914	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	T;T;T;T;D	0.95447	2.03;2.03;0.7;1.36;-3.71	5.07	5.07	0.68467	.	0.046333	0.85682	D	0.000000	D	0.96275	0.8785	M	0.92077	3.27	0.80722	D	1	D;D	0.61080	0.989;0.989	B;B	0.42653	0.394;0.394	D	0.97264	0.9906	10	0.87932	D	0	.	15.9821	0.80116	0.0:1.0:0.0:0.0	.	274;274	B2R5U3;Q9H4M9	.;EHD1_HUMAN	K	274;274;250;288;138;288;138	ENSP00000320516:E274K;ENSP00000352354:E274K;ENSP00000391429:E138K;ENSP00000404944:E288K;ENSP00000396273:E138K	ENSP00000320516:E274K	E	-	1	0	EHD1	64384067	1.000000	0.71417	0.987000	0.45799	0.942000	0.58702	7.588000	0.82629	2.639000	0.89480	0.561000	0.74099	GAG		0.612	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		19	45	0	0	0	1	0	19	45				
PVRL4	81607	broad.mit.edu	37	1	161049441	161049441	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:161049441C>G	ENST00000368012.3	-	2	680	c.378G>C	c.(376-378)gaG>gaC	p.E126D		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	126	Ig-like V-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGACCCGGCACTCGTACTCGC	0.711																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(376-378)gaG>gaC		poliovirus receptor-related 4							13.0	15.0	14.0					1																	161049441		2171	4265	6436	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161049441C>G	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.378G>C	1.37:g.161049441C>G	ENSP00000356991:p.Glu126Asp						p.E126D	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		2	680	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		126			Ig-like V-type 1.		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.378G>C	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362035	0.82353	.	.	ENSG00000143217	ENST00000368012	T	0.65732	-0.17	5.66	4.74	0.60224	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.57154	0.2034	L	0.46157	1.445	0.80722	D	1	D	0.58620	0.983	P	0.57620	0.824	T	0.60556	-0.7240	10	0.45353	T	0.12	.	11.5306	0.50607	0.0:0.9117:0.0:0.0883	.	126	Q96NY8	PVRL4_HUMAN	D	126	ENSP00000356991:E126D	ENSP00000356991:E126D	E	-	3	2	PVRL4	159316065	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	1.590000	0.36654	1.353000	0.45828	0.650000	0.86243	GAG		0.711	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		8	26	0	0	0	1	0	8	26				
FANCI	55215	broad.mit.edu	37	15	89807156	89807156	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr15:89807156G>A	ENST00000310775.7	+	8	654	c.568G>A	c.(568-570)Gag>Aag	p.E190K	FANCI_ENST00000300027.8_Missense_Mutation_p.E190K|FANCI_ENST00000451393.2_Missense_Mutation_p.E11K|FANCI_ENST00000567996.1_Missense_Mutation_p.E190K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	190					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GACTGCAGAAGAGGTGGAATT	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(568-570)Gag>Aag	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							133.0	124.0	127.0					15																	89807156		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89807156G>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.568G>A	15.37:g.89807156G>A	ENSP00000310842:p.Glu190Lys					FANCI_ENST00000300027.8_Missense_Mutation_p.E190K|FANCI_ENST00000567996.1_Missense_Mutation_p.E190K|FANCI_ENST00000451393.2_Missense_Mutation_p.E11K	p.E190K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			8	654	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		190					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.568G>A	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	35	5.589385	0.96590	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611;ENST00000451393	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.987	T	0.66685	-0.5861	10	0.23302	T	0.38	-23.9432	20.2441	0.98394	0.0:0.0:1.0:0.0	.	190;190;190	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	K	190;190;190;11	ENSP00000300027:E190K;ENSP00000310842:E190K;ENSP00000413249:E190K;ENSP00000390764:E11K	ENSP00000300027:E190K	E	+	1	0	FANCI	87608160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.296000	0.96104	2.774000	0.95407	0.655000	0.94253	GAG		0.423	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		10	54	0	0	0	1	0	10	54				
SLC4A10	57282	broad.mit.edu	37	2	162833336	162833336	+	Silent	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:162833336G>C	ENST00000446997.1	+	25	3387	c.3294G>C	c.(3292-3294)ctG>ctC	p.L1098L	SLC4A10_ENST00000375514.5_Silent_p.L1079L|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000272716.5_Silent_p.L1068L|SLC4A10_ENST00000415876.2_Silent_p.L1068L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1098					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GGAACCTTCTGATTACTGCCG	0.338																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3235-3237)ctG>ctC		solute carrier family 4, sodium bicarbonate transporter, member 10							57.0	53.0	54.0					2																	162833336		1834	4086	5920	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162833336G>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3294G>C	2.37:g.162833336G>C						SLC4A10_ENST00000272716.5_Silent_p.L1068L|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Silent_p.L1068L|SLC4A10_ENST00000446997.1_Silent_p.L1098L	p.L1079L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			25	3524	+			1098					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.3237G>C	CCDS54411.1																																																																																				0.338	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		4	4	0	0	0	1	0	4	4				
VGLL1	51442	broad.mit.edu	37	X	135618380	135618380	+	Silent	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrX:135618380G>C	ENST00000370634.3	+	2	371	c.201G>C	c.(199-201)gtG>gtC	p.V67V		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GTGAAGGTGTGATGCTGAAAA	0.527																																						ENST00000370634.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(199-201)gtG>gtC		vestigial like 1 (Drosophila)							70.0	63.0	65.0					X																	135618380		2203	4300	6503	SO:0001819	synonymous_variant	51442				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	g.chrX:135618380G>C	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.201G>C	X.37:g.135618380G>C							p.V67V	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN			2	371	+	Acute lymphoblastic leukemia(192;0.000127)		67					Q5H915	Silent	SNP	ENST00000370634.3	37	c.201G>C	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	G	3.627	-0.076390	0.07184	.	.	ENSG00000102243	ENST00000440515	.	.	.	4.49	2.31	0.28768	.	.	.	.	.	T	0.31796	0.0808	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16630	-1.0396	4	.	.	.	-1.2479	6.6904	0.23167	0.0:0.4283:0.2494:0.3223	.	.	.	.	H	32	.	.	D	+	1	0	VGLL1	135446046	0.000000	0.05858	0.005000	0.12908	0.081000	0.17604	0.455000	0.21843	1.814000	0.52955	0.600000	0.82982	GAT		0.527	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		10	32	0	0	0	1	0	10	32				
NUDT16	131870	broad.mit.edu	37	3	131102278	131102278	+	3'UTR	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:131102278G>A	ENST00000521288.1	+	0	712				RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000537561.1_Missense_Mutation_p.E158K|NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000359850.3_3'UTR			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16						adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						TATTGGATCTGAGAGATGATA	0.468																																						ENST00000537561.1																			0				large_intestine(1)|lung(6)	7						c.(472-474)Gag>Aag		nudix (nucleoside diphosphate linked moiety X)-type motif 16																																				SO:0001624	3_prime_UTR_variant	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131102278G>A	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.*93G>A	3.37:g.131102278G>A						NUDT16_ENST00000359850.3_3'UTR|NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000521288.1_3'UTR	p.E158K	NM_001171905.1	NP_001165376.1	Q96DE0	NUD16_HUMAN			4	547	+			0			Nudix hydrolase.		B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	ENST00000521288.1	37	c.472G>A	CCDS3070.2	.	.	.	.	.	.	.	.	.	.	G	4.370	0.068278	0.08436	.	.	ENSG00000198585	ENST00000537561	.	.	.	2.84	-2.52	0.06346	.	.	.	.	.	T	0.22742	0.0549	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.29274	-1.0017	6	0.37606	T	0.19	.	7.7466	0.28873	0.579:0.0:0.421:0.0	.	.	.	.	K	158	.	ENSP00000440230:E158K	E	+	1	0	NUDT16	132584968	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.409000	0.07160	-0.703000	0.05049	-2.612000	0.00159	GAG		0.468	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395		4	7	0	0	0	1	0	4	7				
MIR381HG	378881	broad.mit.edu	37	14	101513736	101513736	+	lincRNA	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr14:101513736C>G	ENST00000553692.1	+	0	28				MIR889_ENST00000401280.1_RNA|MIR544A_ENST00000384855.1_RNA|MIR539_ENST00000365690.2_RNA|MIR655_ENST00000362159.2_RNA|MIR381_ENST00000362150.1_RNA|MIR487B_ENST00000385021.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		TTTTGAGTATCAAATCTTGCC	0.483																																						ENST00000553692.1																			0																				154.0	127.0	135.0					14																	101513736		1568	3582	5150			378881							g.chr14:101513736C>G	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101513736C>G														0	28	+									RNA	SNP	ENST00000553692.1	37																																																																																						0.483	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			3	20	0	0	0	1	0	3	20				
ASPSCR1	79058	broad.mit.edu	37	17	79974881	79974881	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:79974881G>C	ENST00000306739.4	+	15	1637	c.1540G>C	c.(1540-1542)Gag>Cag	p.E514Q	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.E462Q|STRA13_ENST00000583767.1_5'Flank|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306729.7_Missense_Mutation_p.E608Q	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	514					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			ACCTAAGTCTGAGCCAGCTGC	0.677			T	TFE3	alveolar soft part sarcoma																																	ENST00000306729.7				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(1822-1824)Gag>Cag		alveolar soft part sarcoma chromosome region, candidate 1							28.0	32.0	30.0					17																	79974881		2201	4293	6494	SO:0001583	missense	79058						protein binding	g.chr17:79974881G>C	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1540G>C	17.37:g.79974881G>C	ENSP00000302176:p.Glu514Gln					ASPSCR1_ENST00000306739.4_Missense_Mutation_p.E514Q|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.E462Q|ASPSCR1_ENST00000582404.1_3'UTR	p.E608Q	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		16	1919	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		514					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.1822G>C	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	G	8.338	0.828128	0.16749	.	.	ENSG00000169696	ENST00000306739;ENST00000306729	T;T	0.26518	1.88;1.73	3.45	0.318	0.15867	.	0.789517	0.10824	U	0.630108	T	0.36744	0.0978	M	0.72479	2.2	0.09310	N	1	P;P;B	0.51351	0.944;0.534;0.302	P;P;B	0.53146	0.719;0.496;0.05	T	0.19160	-1.0314	9	.	.	.	-1.8238	6.7284	0.23369	0.3161:0.0:0.6839:0.0	.	462;608;514	Q9BZE9-3;Q9BZE9-2;Q9BZE9	.;.;ASPC1_HUMAN	Q	514;608	ENSP00000302176:E514Q;ENSP00000306625:E608Q	.	E	+	1	0	ASPSCR1	77568170	0.012000	0.17670	0.001000	0.08648	0.005000	0.04900	0.253000	0.18296	-0.076000	0.12775	-0.253000	0.11424	GAG		0.677	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		10	49	0	0	0	1	0	10	49				
SDF4	51150	broad.mit.edu	37	1	1158640	1158640	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:1158640G>A	ENST00000360001.6	-	4	823	c.561C>T	c.(559-561)ctC>ctT	p.L187L	SDF4_ENST00000545427.1_Silent_p.L187L|SDF4_ENST00000263741.7_Silent_p.L187L			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	187					calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CATCCACTTTGAGTTCCTCGT	0.562																																						ENST00000263741.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(559-561)ctC>ctT		stromal cell derived factor 4							295.0	249.0	265.0					1																	1158640		2203	4300	6503	SO:0001819	synonymous_variant	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1158640G>A		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.561C>T	1.37:g.1158640G>A						SDF4_ENST00000360001.6_Silent_p.L187L|SDF4_ENST00000545427.1_Silent_p.L187L	p.L187L	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	4	853	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	187					B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Silent	SNP	ENST00000360001.6	37	c.561C>T	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	g	0.276	-0.989475	0.02162	.	.	ENSG00000078808	ENST00000403997	.	.	.	4.59	0.37	0.16160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.2088	4.3519	0.11160	0.1064:0.5716:0.1587:0.1632	.	.	.	.	X	122	.	.	Q	-	1	0	SDF4	1148503	0.999000	0.42202	0.044000	0.18714	0.053000	0.15095	0.635000	0.24629	-0.225000	0.09913	0.543000	0.68304	CAA		0.562	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		23	61	0	0	0	1	0	23	61				
ADAMTS16	170690	broad.mit.edu	37	5	5190238	5190238	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:5190238C>A	ENST00000274181.7	+	7	1340	c.1202C>A	c.(1201-1203)aCt>aAt	p.T401N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T401N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	401	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCCTGTGACACTTTGGGTGAG	0.507																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1201-1203)aCt>aAt		ADAM metallopeptidase with thrombospondin type 1 motif, 16							121.0	121.0	121.0					5																	5190238		2039	4181	6220	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5190238C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1202C>A	5.37:g.5190238C>A	ENSP00000274181:p.Thr401Asn					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T401N	p.T401N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			7	1340	+			401			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1202C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694871	0.88830	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.89123	-2.47;-2.47	5.37	5.37	0.77165	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.997	D	0.96776	0.9572	10	0.87932	D	0	.	17.9034	0.88911	0.0:1.0:0.0:0.0	.	401;401;401	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	N	401	ENSP00000274181:T401N;ENSP00000421631:T401N	ENSP00000274181:T401N	T	+	2	0	ADAMTS16	5243238	1.000000	0.71417	0.179000	0.23059	0.982000	0.71751	7.317000	0.79018	2.510000	0.84645	0.650000	0.86243	ACT		0.507	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		5	88	1	0	1.23904e-05	1	1.27408e-05	5	88				
HIVEP3	59269	broad.mit.edu	37	1	42050278	42050278	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:42050278G>A	ENST00000372583.1	-	4	1076	c.191C>T	c.(190-192)tCa>tTa	p.S64L	HIVEP3_ENST00000372584.1_Missense_Mutation_p.S64L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S64L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S64L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	64					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCTAAGAACTGATGAGGGGCC	0.632																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(190-192)tCa>tTa		human immunodeficiency virus type I enhancer binding protein 3							72.0	89.0	83.0					1																	42050278		2202	4299	6501	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050278G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.191C>T	1.37:g.42050278G>A	ENSP00000361664:p.Ser64Leu					HIVEP3_ENST00000372583.1_Missense_Mutation_p.S64L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S64L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S64L	p.S64L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1205	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	64					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.191C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	6.336	0.430170	0.12045	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05925	3.38;3.37;3.37;3.38	4.76	2.73	0.32206	.	0.683280	0.12258	N	0.484992	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44236	-0.9341	10	0.25106	T	0.35	0.5402	5.0591	0.14548	0.2006:0.0:0.6274:0.172	.	64;64	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	64	ENSP00000361665:S64L;ENSP00000361664:S64L;ENSP00000247584:S64L;ENSP00000410828:S64L	ENSP00000247584:S64L	S	-	2	0	HIVEP3	41822865	0.140000	0.22579	0.016000	0.15963	0.986000	0.74619	1.778000	0.38614	1.214000	0.43395	0.563000	0.77884	TCA		0.632	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		35	191	0	0	0	1	0	35	191				
GAL3ST2	64090	broad.mit.edu	37	2	242741215	242741215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:242741215G>T	ENST00000192314.6	+	3	270	c.139G>T	c.(139-141)Gag>Tag	p.E47*	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	47					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)		GGGCCAGGCTGAGGGGCCGCC	0.652																																						ENST00000192314.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(139-141)Gag>Tag		galactose-3-O-sulfotransferase 2							33.0	33.0	33.0					2																	242741215		2202	4291	6493	SO:0001587	stop_gained	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242741215G>T	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.139G>T	2.37:g.242741215G>T	ENSP00000192314:p.Glu47*					AC114730.5_ENST00000437438.1_RNA	p.E47*	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)	3	270	+		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)	47					Q17RK0|Q57Z52	Nonsense_Mutation	SNP	ENST00000192314.6	37	c.139G>T	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387478	0.61956	.	.	ENSG00000154252	ENST00000192314	.	.	.	3.21	-4.35	0.03656	.	1.343380	0.05354	N	0.532334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-7.9073	6.3908	0.21585	0.3876:0.2332:0.3792:0.0	.	.	.	.	X	47	.	ENSP00000192314:E47X	E	+	1	0	GAL3ST2	242389888	.	.	0.000000	0.03702	0.040000	0.13550	.	.	-1.039000	0.03275	-0.821000	0.03111	GAG		0.652	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		15	34	1	0	6.31663e-08	1	6.64908e-08	15	34				
SH3RF1	57630	broad.mit.edu	37	4	170077830	170077830	+	Splice_Site	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:170077830C>G	ENST00000284637.9	-	3	735	c.394G>C	c.(394-396)Ggt>Cgt	p.G132R	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	132					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGAGGTATACCCTTTAAAAAA	0.328																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.e3-1		SH3 domain containing ring finger 1							70.0	75.0	73.0					4																	170077830		2203	4300	6503	SO:0001630	splice_region_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170077830C>G	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.394-1G>C	4.37:g.170077830C>G						SH3RF1_ENST00000508685.1_5'UTR	p.G132_splice	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	3	735	-		Prostate(90;0.00267)|Renal(120;0.0183)	132					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Splice_Site	SNP	ENST00000284637.9	37	c.393_splice	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834913	0.50951	.	.	ENSG00000154447	ENST00000284637	T	0.28666	1.6	5.76	4.92	0.64577	Src homology-3 domain (1);	0.088618	0.85682	D	0.000000	T	0.24470	0.0593	L	0.33485	1.01	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.03619	-1.1019	10	0.22109	T	0.4	-22.2929	15.0765	0.72080	0.0:0.932:0.0:0.068	.	132	Q7Z6J0	SH3R1_HUMAN	R	132	ENSP00000284637:G132R	ENSP00000284637:G132R	G	-	1	0	SH3RF1	170314405	1.000000	0.71417	0.975000	0.42487	0.736000	0.42039	4.583000	0.60964	1.584000	0.49913	0.655000	0.94253	GGT		0.328	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870	Missense_Mutation	14	52	0	0	0	1	0	14	52				
AHNAK	79026	broad.mit.edu	37	11	62294601	62294601	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:62294601C>G	ENST00000378024.4	-	5	7562	c.7288G>C	c.(7288-7290)Gag>Cag	p.E2430Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2430					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGTCCCTCAATGTCAATG	0.468																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7288-7290)Gag>Cag		AHNAK nucleoprotein							83.0	82.0	82.0					11																	62294601		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294601C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7288G>C	11.37:g.62294601C>G	ENSP00000367263:p.Glu2430Gln					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.E2430Q	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7562	-		Melanoma(852;0.155)	2430					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7288G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	11.59	1.685135	0.29872	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01685	4.69	4.15	3.24	0.37175	.	.	.	.	.	T	0.08088	0.0202	H	0.97415	4	0.33731	D	0.618196	P	0.46142	0.873	B	0.42361	0.385	T	0.26395	-1.0104	9	0.51188	T	0.08	-1.1476	11.4096	0.49919	0.0:0.9088:0.0:0.0912	.	2430	Q09666	AHNK_HUMAN	Q	519;2430	ENSP00000367263:E2430Q	ENSP00000244934:E519Q	E	-	1	0	AHNAK	62051177	0.011000	0.17503	0.339000	0.25562	0.836000	0.47400	1.168000	0.31859	0.743000	0.32719	0.479000	0.44913	GAG		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		14	64	0	0	0	1	0	14	64				
IL19	29949	broad.mit.edu	37	1	207010027	207010027	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:207010027C>T	ENST00000270218.6	+	3	959	c.20C>T	c.(19-21)tCc>tTc	p.S7F	IL19_ENST00000340758.2_Missense_Mutation_p.S45F	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	7					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			CAGTGTGTTTCCCTTTGGCTC	0.478																																						ENST00000270218.6																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(19-21)tCc>tTc		interleukin 19							155.0	144.0	148.0					1																	207010027		2203	4300	6503	SO:0001583	missense	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207010027C>T	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.20C>T	1.37:g.207010027C>T	ENSP00000270218:p.Ser7Phe					IL19_ENST00000340758.2_Missense_Mutation_p.S45F	p.S7F	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		3	959	+			7					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000270218.6	37	c.20C>T	CCDS1469.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072267	0.36566	.	.	ENSG00000142224	ENST00000340758;ENST00000270218	T;T	0.39229	1.13;1.09	5.4	4.49	0.54785	.	1.160920	0.05883	N	0.626812	T	0.45216	0.1331	L	0.61218	1.895	0.09310	N	0.999998	B;B;B	0.24186	0.043;0.099;0.099	B;B;B	0.23018	0.043;0.027;0.027	T	0.40136	-0.9579	10	0.62326	D	0.03	.	9.854	0.41075	0.0:0.9059:0.0:0.0941	.	7;7;45	B6VEV9;Q9UHD0;Q5VUT3	.;IL19_HUMAN;.	F	45;7	ENSP00000343000:S45F;ENSP00000270218:S7F	ENSP00000270218:S7F	S	+	2	0	IL19	205076650	0.000000	0.05858	0.079000	0.20413	0.063000	0.16089	0.496000	0.22499	1.283000	0.44513	0.561000	0.74099	TCC		0.478	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		66	74	0	0	0	1	0	66	74				
AOC2	314	broad.mit.edu	37	17	41001263	41001263	+	Silent	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:41001263C>G	ENST00000253799.3	+	2	1776	c.1749C>G	c.(1747-1749)ctC>ctG	p.L583L	AOC2_ENST00000452774.2_Silent_p.L583L|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	583					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCCGCTACCTCTACCTGGCTA	0.607																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(1747-1749)ctC>ctG		amine oxidase, copper containing 2 (retina-specific)							65.0	73.0	70.0					17																	41001263		2203	4300	6503	SO:0001819	synonymous_variant	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41001263C>G	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1749C>G	17.37:g.41001263C>G						AOC2_ENST00000452774.2_Silent_p.L583L	p.L583L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	2	1776	+		Breast(137;0.000143)	583					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	ENST00000253799.3	37	c.1749C>G	CCDS11443.1																																																																																				0.607	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		33	133	0	0	0	1	0	33	133				
ABCD1	215	broad.mit.edu	37	X	153008774	153008774	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrX:153008774C>T	ENST00000218104.3	+	9	2364	c.1965C>T	c.(1963-1965)ctC>ctT	p.L655L	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	655	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCCTGCTCTCCATCACCC	0.687																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1963-1965)ctC>ctT		ATP-binding cassette, sub-family D (ALD), member 1							23.0	19.0	20.0					X																	153008774		2196	4281	6477	SO:0001819	synonymous_variant	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153008774C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1965C>T	X.37:g.153008774C>T						U52111.14_ENST00000434284.1_RNA	p.L655L	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			9	2364	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		655			ABC transporter.		Q6GTZ2	Silent	SNP	ENST00000218104.3	37	c.1965C>T	CCDS14728.1																																																																																				0.687	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		3	6	0	0	0	1	0	3	6				
STAB1	23166	broad.mit.edu	37	3	52541667	52541667	+	Silent	SNP	G	G	A	rs200377103	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:52541667G>A	ENST00000321725.6	+	19	2104	c.2028G>A	c.(2026-2028)acG>acA	p.T676T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	676					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACACCAGCACGTGTCCCCCCA	0.612													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17111	0.0		0.0	False		,,,				2504	0.0					ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(2026-2028)acG>acA		stabilin 1							69.0	63.0	65.0					3																	52541667		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52541667G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2028G>A	3.37:g.52541667G>A							p.T676T	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	19	2104	+			676					A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.2028G>A	CCDS33768.1																																																																																				0.612	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		13	54	0	0	0	1	0	13	54				
NPAS2	4862	broad.mit.edu	37	2	101580639	101580639	+	Splice_Site	SNP	G	G	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:101580639G>T	ENST00000335681.5	+	8	1002		c.e8+1		NPAS2_ENST00000542504.1_Splice_Site	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2						cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATTCTTAAAGGCAAGTACCTG	0.443																																						ENST00000335681.5																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e8+1		neuronal PAS domain protein 2							113.0	111.0	112.0					2																	101580639		2203	4300	6503	SO:0001630	splice_region_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101580639G>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.717+1G>T	2.37:g.101580639G>T						NPAS2_ENST00000542504.1_Splice_Site		NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			8	1002	+								Q4ZFV9|Q53SQ3|Q86V96|Q99629	Splice_Site	SNP	ENST00000335681.5	37		CCDS2048.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453729	0.84209	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.327	0.94265	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS2	100947071	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.121000	0.94375	2.566000	0.86566	0.655000	0.94253	.		0.443	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3		Intron	17	88	1	0	1.45105e-14	1	1.57296e-14	17	88				
COL6A6	131873	broad.mit.edu	37	3	130293197	130293197	+	Silent	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:130293197G>C	ENST00000358511.6	+	7	3406	c.3375G>C	c.(3373-3375)ctG>ctC	p.L1125L	COL6A6_ENST00000453409.2_Silent_p.L1125L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1125	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGAAGCCCTGAGACACAGAG	0.567																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3373-3375)ctG>ctC		collagen, type VI, alpha 6							78.0	87.0	84.0					3																	130293197		2018	4180	6198	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130293197G>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3375G>C	3.37:g.130293197G>C						COL6A6_ENST00000453409.2_Silent_p.L1125L	p.L1125L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			7	3406	+			1125			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.3375G>C	CCDS46911.1																																																																																				0.567	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		26	107	0	0	0	1	0	26	107				
SIMC1	375484	broad.mit.edu	37	5	175772396	175772396	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:175772396C>T	ENST00000443967.1	+	12	2974	c.2567C>T	c.(2566-2568)gCg>gTg	p.A856V	KIAA1191_ENST00000393728.2_5'Flank|RP11-843P14.2_ENST00000508187.1_RNA|SIMC1_ENST00000430704.2_Missense_Mutation_p.A441V|SIMC1_ENST00000332772.4_Missense_Mutation_p.A317V|SIMC1_ENST00000341199.6_Missense_Mutation_p.A441V			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	856							SUMO polymer binding (GO:0032184)										TTCTATGCTGCGGACTTGAAC	0.572																																						ENST00000443967.1																			0											c.(2566-2568)gCg>gTg		SUMO-interacting motifs containing 1							50.0	52.0	51.0					5																	175772396		2203	4300	6503	SO:0001583	missense	375484							g.chr5:175772396C>T	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2567C>T	5.37:g.175772396C>T	ENSP00000406571:p.Ala856Val					SIMC1_ENST00000430704.2_Missense_Mutation_p.A441V|SIMC1_ENST00000341199.6_Missense_Mutation_p.A441V|SIMC1_ENST00000332772.4_Missense_Mutation_p.A317V	p.A856V							12	2974	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.2567C>T		.	.	.	.	.	.	.	.	.	.	C	14.30	2.495647	0.44352	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.30714	1.96;1.96;2.19;1.52	5.44	5.44	0.79542	.	0.127072	0.35615	N	0.003091	T	0.38878	0.1057	L	0.43152	1.355	0.39720	D	0.971452	D;D;D	0.64830	0.979;0.977;0.994	B;B;P	0.56042	0.351;0.314;0.79	T	0.05920	-1.0856	10	0.37606	T	0.19	-15.9791	11.9562	0.52983	0.0:0.9213:0.0:0.0787	.	317;441;856	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	V	441;441;856;317	ENSP00000342075:A441V;ENSP00000409287:A441V;ENSP00000406571:A856V;ENSP00000331311:A317V	ENSP00000331311:A317V	A	+	2	0	C5orf25	175705002	0.010000	0.17322	0.197000	0.23402	0.116000	0.19942	1.492000	0.35594	2.831000	0.97527	0.650000	0.86243	GCG		0.572	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		9	44	0	0	0	1	0	9	44				
FNBP4	23360	broad.mit.edu	37	11	47739054	47739054	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:47739054C>G	ENST00000263773.5	-	17	2986	c.2974G>C	c.(2974-2976)Gag>Cag	p.E992Q	AGBL2_ENST00000528244.1_5'Flank|AGBL2_ENST00000357610.3_5'Flank|AGBL2_ENST00000525123.1_5'Flank|AGBL2_ENST00000298861.4_5'Flank|AGBL2_ENST00000529712.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	992						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCATTTCTCTCTGCCATGCCA	0.328																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(2974-2976)Gag>Cag		formin binding protein 4							89.0	82.0	84.0					11																	47739054		1829	4086	5915	SO:0001583	missense	23360							g.chr11:47739054C>G	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2974G>C	11.37:g.47739054C>G	ENSP00000263773:p.Glu992Gln						p.E992Q	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			17	2986	-			992					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.2974G>C	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165620	0.78339	.	.	ENSG00000109920	ENST00000263773	T	0.32753	1.44	5.79	5.79	0.91817	.	0.125189	0.56097	D	0.000026	T	0.27027	0.0662	N	0.08118	0	0.43453	D	0.995648	P	0.40000	0.698	P	0.45538	0.484	T	0.12863	-1.0531	10	0.49607	T	0.09	-18.4709	20.0263	0.97523	0.0:1.0:0.0:0.0	.	992	Q8N3X1	FNBP4_HUMAN	Q	992	ENSP00000263773:E992Q	ENSP00000263773:E992Q	E	-	1	0	FNBP4	47695630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.165000	0.64959	2.735000	0.93741	0.655000	0.94253	GAG		0.328	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			10	41	0	0	0	1	0	10	41				
MT-CYB	4519	broad.mit.edu	37	M	14996	14996	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrM:14996G>A	ENST00000361789.2	+	1	250	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	MT-TE_ENST00000387459.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	84					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GCTACCTTCACGCCAATGGCG	0.483																																						ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(250-252)Gcc>Acc		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:14996G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.250G>A	M.37:g.14996G>A	ENSP00000354554:p.Ala84Thr						p.84_84insT							1	250	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.250G>A																																																																																					0.483	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		13	17	0	0	0	1	0	13	17				
CEP164	22897	broad.mit.edu	37	11	117214932	117214932	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:117214932G>C	ENST00000278935.3	+	4	280	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	45	Interaction with ATRIP.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CAAGGAACCAGAACTGATGTG	0.532																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(133-135)Gaa>Caa		centrosomal protein 164kDa							42.0	39.0	40.0					11																	117214932		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117214932G>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.133G>C	11.37:g.117214932G>C	ENSP00000278935:p.Glu45Gln						p.E45Q	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	4	280	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	45			Interaction with ATRIP.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.133G>C	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278175	0.59758	.	.	ENSG00000110274	ENST00000525734;ENST00000278935;ENST00000527609;ENST00000533570;ENST00000529538	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.62	3.7	0.42460	.	0.143577	0.31648	N	0.007282	T	0.62648	0.2445	L	0.55103	1.725	0.49582	D	0.999802	B;B;B	0.22211	0.036;0.066;0.06	B;B;B	0.23716	0.021;0.048;0.046	T	0.61436	-0.7063	10	0.46703	T	0.11	-7.6832	14.6181	0.68562	0.0:0.147:0.853:0.0	.	45;45;45	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	Q	45	ENSP00000436609:E45Q;ENSP00000278935:E45Q;ENSP00000436351:E45Q;ENSP00000431302:E45Q	ENSP00000278935:E45Q	E	+	1	0	CEP164	116720142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.111000	0.71541	1.048000	0.40298	0.563000	0.77884	GAA		0.532	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		9	14	0	0	0	1	0	9	14				
DPPA2	151871	broad.mit.edu	37	3	109028070	109028070	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:109028070G>A	ENST00000478945.1	-	4	535	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	97	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAGTGTCCCGACACACCTTA	0.448																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(289-291)Cgg>Tgg		developmental pluripotency associated 2							180.0	183.0	182.0					3																	109028070		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109028070G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.289C>T	3.37:g.109028070G>A	ENSP00000417710:p.Arg97Trp						p.R97W	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			4	535	-			97			SAP.		Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.289C>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427130	0.25726	.	.	ENSG00000163530	ENST00000478945	T	0.55052	0.54	4.48	0.451	0.16629	DNA-binding SAP (2);	0.322422	0.22515	N	0.059049	T	0.28001	0.0690	L	0.31207	0.915	0.09310	N	1	P	0.39022	0.655	B	0.27076	0.076	T	0.15292	-1.0442	10	0.49607	T	0.09	-4.0713	3.6372	0.08153	0.1904:0.0:0.4695:0.3401	.	97	Q7Z7J5	DPPA2_HUMAN	W	97	ENSP00000417710:R97W	ENSP00000417710:R97W	R	-	1	2	DPPA2	110510760	0.004000	0.15560	0.009000	0.14445	0.089000	0.18198	0.947000	0.29082	-0.030000	0.13804	0.561000	0.74099	CGG		0.448	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		48	250	0	0	0	1	0	48	250				
KIF21A	55605	broad.mit.edu	37	12	39727051	39727051	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr12:39727051C>G	ENST00000361418.5	-	18	2465	c.2450G>C	c.(2449-2451)aGa>aCa	p.R817T	KIF21A_ENST00000395670.3_Missense_Mutation_p.R817T|KIF21A_ENST00000544797.2_Missense_Mutation_p.R804T|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361961.3_Missense_Mutation_p.R804T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	817					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTTGGTTTCTTTTTTGGGC	0.328																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(2449-2451)aGa>aCa		kinesin family member 21A							204.0	202.0	203.0					12																	39727051		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39727051C>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2450G>C	12.37:g.39727051C>G	ENSP00000354878:p.Arg817Thr					KIF21A_ENST00000361961.3_Missense_Mutation_p.R804T|KIF21A_ENST00000544797.2_Missense_Mutation_p.R804T|KIF21A_ENST00000361418.5_Missense_Mutation_p.R817T|KIF21A_ENST00000541463.2_Intron	p.R817T			Q7Z4S6	KI21A_HUMAN			18	2869	-		Lung NSC(34;0.179)|all_lung(34;0.213)	817					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2450G>C	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.102159|4.102159	0.76983|0.76983	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418	.|T;T;T;T	.|0.19250	.|2.16;2.16;2.16;2.16	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.56097	.|D	.|0.000025	T|T	0.44435|0.44435	0.1293|0.1293	M|M	0.74647|0.74647	2.275|2.275	0.42425|0.42425	D|D	0.992654|0.992654	.|D;D;D;D	.|0.76494	.|0.989;0.991;0.974;0.999	.|D;P;P;D	.|0.75020	.|0.985;0.881;0.647;0.973	T|T	0.34329|0.34329	-0.9833|-0.9833	5|10	.|0.46703	.|T	.|0.11	.|.	12.2857|12.2857	0.54791|0.54791	0.0:0.922:0.0:0.078|0.0:0.922:0.0:0.078	.|.	.|804;817;804;817	.|F5H219;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.|.;KI21A_HUMAN;.;.	Q|T	165|804;817;817;804;817	.|ENSP00000354851:R804T;ENSP00000379029:R817T;ENSP00000445606:R804T;ENSP00000354878:R817T	.|ENSP00000344501:R817T	E|R	-|-	1|2	0|0	KIF21A|KIF21A	38013318|38013318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.300000|4.300000	0.59079|0.59079	2.476000|2.476000	0.83614|0.83614	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.328	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		28	113	0	0	0	1	0	28	113				
TTN	7273	broad.mit.edu	37	2	179604916	179604916	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:179604916G>A	ENST00000591111.1	-	46	12317	c.12093C>T	c.(12091-12093)aaC>aaT	p.N4031N	TTN_ENST00000342175.6_Silent_p.N4177N|TTN_ENST00000359218.5_Silent_p.N4110N|TTN_ENST00000460472.2_Silent_p.N3985N|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Silent_p.N4348N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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)			GCATCACCACGTTGTCAGAAT	0.463																																						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.(13042-13044)aaC>aaT		titin							96.0	94.0	94.0					2																	179604916		1896	4120	6016	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604916G>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.12093C>T	2.37:g.179604916G>A						TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Silent_p.N3985N|TTN_ENST00000359218.5_Silent_p.N4110N|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.N4177N|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Silent_p.N4031N	p.N4348N	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)		48	13268	-			4031			Ig-like 23.		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.13044C>T																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	58	0	0	0	1	0	10	58				
ZKSCAN1	7586	broad.mit.edu	37	7	99621306	99621306	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:99621306C>A	ENST00000324306.6	+	2	411	c.177C>A	c.(175-177)ttC>ttA	p.F59L	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.F23L|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	59	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCCAACGCTTCAGGCGCTTCT	0.552																																						ENST00000324306.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(175-177)ttC>ttA		zinc finger with KRAB and SCAN domains 1							80.0	84.0	83.0					7																	99621306		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99621306C>A	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.177C>A	7.37:g.99621306C>A	ENSP00000323148:p.Phe59Leu					ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.F23L|ZKSCAN1_ENST00000535170.1_Intron	p.F59L	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	411	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		59			SCAN box.		A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.177C>A	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766218	0.69878	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000432317	T;T;T	0.12039	2.72;2.72;2.72	4.63	2.83	0.33086	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.53938	D	0.000053	T	0.39462	0.1079	M	0.91717	3.235	0.80722	D	1	D;D	0.59357	0.979;0.985	D;D	0.72338	0.973;0.977	T	0.19353	-1.0308	10	0.87932	D	0	.	6.4057	0.21662	0.0:0.7014:0.0:0.2986	.	59;23	P17029;E9PC66	ZKSC1_HUMAN;.	L	59;23;59	ENSP00000323148:F59L;ENSP00000409172:F23L;ENSP00000394445:F59L	ENSP00000323148:F59L	F	+	3	2	ZKSCAN1	99459242	0.821000	0.29204	0.990000	0.47175	0.844000	0.47949	0.591000	0.23969	0.572000	0.29383	0.484000	0.47621	TTC		0.552	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		27	68	1	0	8.24728e-16	1	8.96444e-16	27	68				
FRYL	285527	broad.mit.edu	37	4	48546000	48546000	+	Missense_Mutation	SNP	C	C	G	rs955713		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:48546000C>G	ENST00000503238.1	-	41	5415	c.5416G>C	c.(5416-5418)Gaa>Caa	p.E1806Q	FRYL_ENST00000537810.1_Missense_Mutation_p.E1806Q|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.E1806Q			O94915	FRYL_HUMAN	FRY-like	1806					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGATGATGTTCCAGATGAATT	0.408																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5416-5418)Gaa>Caa		FRY-like							100.0	97.0	98.0					4																	48546000		1898	4124	6022	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48546000C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5416G>C	4.37:g.48546000C>G	ENSP00000426064:p.Glu1806Gln					FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E1806Q|FRYL_ENST00000358350.4_Missense_Mutation_p.E1806Q|FRYL_ENST00000507873.2_5'UTR	p.E1806Q			O94915	FRYL_HUMAN			44	6020	-			1806					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.5416G>C	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.48|16.48	3.136404|3.136404	0.56936|0.56936	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.25414|.	1.8;1.8;1.8|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Armadillo-type fold (1);|.	0.052715|.	0.64402|.	D|.	0.000001|.	T|T	0.66538|0.66538	0.2799|0.2799	L|L	0.39514|0.39514	1.22|1.22	0.80722|0.80722	D|D	1|1	P;P;P|.	0.47191|.	0.891;0.757;0.848|.	B;P;P|.	0.50896|.	0.412;0.653;0.521|.	T|T	0.62186|0.62186	-0.6907|-0.6907	10|5	0.21014|.	T|.	0.42|.	.|.	19.0283|19.0283	0.92944|0.92944	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	636;1806;1806|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	Q|A	1806|675	ENSP00000426064:E1806Q;ENSP00000351113:E1806Q;ENSP00000441114:E1806Q|.	ENSP00000351113:E1806Q|.	E|G	-|-	1|2	0|0	FRYL|FRYL	48240757|48240757	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.040000|0.040000	0.13550|0.13550	7.391000|7.391000	0.79828|0.79828	2.543000|2.543000	0.85770|0.85770	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.408	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			11	39	0	0	0	1	0	11	39				
MCF2L	23263	broad.mit.edu	37	13	113699197	113699197	+	Intron	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr13:113699197C>T	ENST00000375608.3	+	5	426				MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000397021.1_Silent_p.G53G|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000375597.4_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCAGGACCGGCGTGATGTATG	0.522																																						ENST00000397021.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(157-159)ggC>ggT		MCF.2 cell line derived transforming sequence-like							60.0	55.0	56.0					13																	113699197		876	1991	2867	SO:0001627	intron_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113699197C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.369-388C>T	13.37:g.113699197C>T						MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000421756.1_Intron	p.G53G			O15068	MCF2L_HUMAN			1	222	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	388			CRAL-TRIO.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.159C>T																																																																																					0.522	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			3	45	0	0	0	1	0	3	45				
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:21606712T>C	ENST00000355504.4	+	2	1133	c.867T>C	c.(865-867)tcT>tcC	p.S289S	ZNF493_ENST00000392288.2_Silent_p.S417S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1249-1251)tcT>tcC		zinc finger protein 493							34.0	37.0	36.0					19																	21606712		2198	4293	6491	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606712T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.867T>C	19.37:g.21606712T>C						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S	p.S417S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1360	+			289					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1251T>C	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		3	44	0	0	0	1	0	3	44				
TMEM120A	83862	broad.mit.edu	37	7	75621579	75621579	+	RNA	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:75621579C>T	ENST00000338761.4	-	0	289				TMEM120A_ENST00000493111.2_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral component of membrane (GO:0016021)											GGGTTTGCATCTGCGGGTAAG	0.617																																						ENST00000493111.2																			0													transmembrane protein 120A							50.0	55.0	53.0					7																	75621579		1939	4130	6069			83862					integral to membrane		g.chr7:75621579C>T	AF327923	CCDS64688.1	7q11.23	2009-11-06			ENSG00000189077	ENSG00000189077			21697	protein-coding gene	gene with protein product							Standard	NM_031925		Approved	TMPIT, NET29	uc003ued.3	Q9BXJ8	OTTHUMG00000156620		7.37:g.75621579C>T						TMEM120A_ENST00000338761.4_RNA				Q9BXJ8	T120A_HUMAN			0	200	-								Q86TE9|Q8N6P1	RNA	SNP	ENST00000338761.4	37																																																																																						0.617	TMEM120A-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000344834.4	NM_031925		4	84	0	0	0	1	0	4	84				
AKAP9	10142	broad.mit.edu	37	7	91736691	91736691	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:91736691G>C	ENST00000359028.2	+	48	11738	c.11513G>C	c.(11512-11514)aGa>aCa	p.R3838T	AKAP9_ENST00000358100.2_Missense_Mutation_p.R3784T|AKAP9_ENST00000356239.3_Missense_Mutation_p.R3834T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3838					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)			TATCGCTCAAGATCAGATCTG	0.363			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.(11512-11514)aGa>aCa		A kinase (PRKA) anchor protein 9							140.0	134.0	136.0					7																	91736691		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91736691G>C	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.11513G>C	7.37:g.91736691G>C	ENSP00000351922:p.Arg3838Thr					AKAP9_ENST00000356239.3_Missense_Mutation_p.R3834T|AKAP9_ENST00000358100.2_Missense_Mutation_p.R3784T	p.R3838T			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		48	11738	+	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)		3838					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11513G>C		.	.	.	.	.	.	.	.	.	.	G	14.73	2.622460	0.46840	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.04317	3.75;3.74;3.82;3.65	5.41	5.41	0.78517	.	0.000000	0.41097	D	0.000955	T	0.14614	0.0353	L	0.50333	1.59	0.51482	D	0.999921	P;D;D;D;D	0.59767	0.955;0.986;0.977;0.986;0.986	P;P;P;P;P	0.56563	0.754;0.801;0.517;0.603;0.603	T	0.00047	-1.2210	10	0.66056	D	0.02	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	1109;3838;3838;3834;3826	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	T	3834;3838;3784;3838;1680	ENSP00000348573:R3834T;ENSP00000351922:R3838T;ENSP00000350813:R3784T;ENSP00000378042:R1680T	ENSP00000348573:R3834T	R	+	2	0	AKAP9	91574627	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.838000	0.62803	2.826000	0.97356	0.655000	0.94253	AGA		0.363	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		10	35	0	0	0	1	0	10	35				
C4BPA	722	broad.mit.edu	37	1	207317276	207317276	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:207317276C>T	ENST00000367070.3	+	11	1752	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	520	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGTGGTTGGTCCCCAAAGTAT	0.478																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1558-1560)Ccc>Tcc		complement component 4 binding protein, alpha							200.0	173.0	182.0					1																	207317276		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207317276C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1558C>T	1.37:g.207317276C>T	ENSP00000356037:p.Pro520Ser						p.P520S	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			11	1752	+			520			Sushi 8.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.1558C>T	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	0.399	-0.919323	0.02396	.	.	ENSG00000123838	ENST00000367070	T	0.61627	0.09	5.29	-10.6	0.00265	Complement control module (2);Sushi/SCR/CCP (3);	1.933340	0.02109	N	0.054649	T	0.22166	0.0534	N	0.02403	-0.565	0.09310	N	1	B	0.19073	0.033	B	0.29598	0.104	T	0.20371	-1.0277	10	0.02654	T	1	.	3.682	0.08313	0.3664:0.4215:0.0923:0.1197	.	520	P04003	C4BPA_HUMAN	S	520	ENSP00000356037:P520S	ENSP00000356037:P520S	P	+	1	0	C4BPA	205383899	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.097000	0.03349	-2.462000	0.00535	-0.188000	0.12872	CCC		0.478	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			23	38	0	0	0	1	0	23	38				
ADAMTS1	9510	broad.mit.edu	37	21	28217210	28217210	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr21:28217210C>T	ENST00000284984.3	-	1	518	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	22					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GGAGCCCGCTCCGCGTTCCCC	0.716											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(64-66)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 1							9.0	12.0	11.0					21																	28217210		2133	4153	6286	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28217210C>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.64G>A	21.37:g.28217210C>T	ENSP00000284984:p.Glu22Lys		OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	800		p.E22K	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	1	518	-		Breast(209;0.000962)	22					D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.64G>A	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311102	0.60414	.	.	ENSG00000154734	ENST00000284984	T	0.60920	0.15	3.27	1.36	0.22044	.	.	.	.	.	T	0.30510	0.0767	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.20739	-1.0266	9	0.15499	T	0.54	.	5.7033	0.17895	0.0:0.6692:0.2117:0.1191	.	22	Q9UHI8	ATS1_HUMAN	K	22	ENSP00000284984:E22K	ENSP00000284984:E22K	E	-	1	0	ADAMTS1	27139081	0.200000	0.23398	0.000000	0.03702	0.663000	0.39108	1.847000	0.39299	0.362000	0.24319	0.555000	0.69702	GAG		0.716	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			5	12	0	0	0	1	0	5	12				
TMEM169	92691	broad.mit.edu	37	2	216960858	216960858	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:216960858G>A	ENST00000295658.4	+	2	379	c.172G>A	c.(172-174)Gac>Aac	p.D58N	TMEM169_ENST00000454545.1_Missense_Mutation_p.D58N|TMEM169_ENST00000437356.2_Missense_Mutation_p.D58N|TMEM169_ENST00000406027.2_Missense_Mutation_p.D58N	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	58						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTACCGCTCAGACAATGAGAA	0.517																																						ENST00000454545.1																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13						c.(172-174)Gac>Aac		transmembrane protein 169							86.0	84.0	85.0					2																	216960858		2203	4300	6503	SO:0001583	missense	92691					integral to membrane		g.chr2:216960858G>A	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.172G>A	2.37:g.216960858G>A	ENSP00000295658:p.Asp58Asn					TMEM169_ENST00000437356.2_Missense_Mutation_p.D58N|TMEM169_ENST00000406027.2_Missense_Mutation_p.D58N|TMEM169_ENST00000295658.4_Missense_Mutation_p.D58N	p.D58N	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	498	+		Renal(323;0.0651)	58					B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	c.172G>A	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140630	0.56936	.	.	ENSG00000163449	ENST00000433112;ENST00000454545;ENST00000437356;ENST00000295658;ENST00000455479;ENST00000406027	.	.	.	4.62	3.74	0.42951	.	0.331845	0.35349	N	0.003270	T	0.48696	0.1514	L	0.38175	1.15	0.44627	D	0.997604	B	0.27656	0.184	B	0.31614	0.133	T	0.50566	-0.8813	9	0.56958	D	0.05	-8.9231	11.9161	0.52765	0.0842:0.0:0.9158:0.0	.	58	Q96HH4	TM169_HUMAN	N	58	.	ENSP00000295658:D58N	D	+	1	0	TMEM169	216669103	1.000000	0.71417	0.959000	0.39883	0.650000	0.38633	8.886000	0.92447	1.175000	0.42826	0.306000	0.20318	GAC		0.517	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		10	43	0	0	0	1	0	10	43				
RICTOR	253260	broad.mit.edu	37	5	38964982	38964982	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:38964982G>C	ENST00000357387.3	-	16	1342	c.1312C>G	c.(1312-1314)Ctt>Gtt	p.L438V	RICTOR_ENST00000296782.5_Missense_Mutation_p.L438V	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GAATGAGGAAGAATTGTGTTT	0.363																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(1312-1314)Ctt>Gtt		RPTOR independent companion of MTOR, complex 2							131.0	121.0	125.0					5																	38964982		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38964982G>C		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1312C>G	5.37:g.38964982G>C	ENSP00000349959:p.Leu438Val					RICTOR_ENST00000296782.5_Missense_Mutation_p.L438V	p.L438V	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			16	1342	-	all_lung(31;0.000396)		438						Missense_Mutation	SNP	ENST00000357387.3	37	c.1312C>G	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736466	0.69189	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.68479	-0.33;-0.17	5.46	5.46	0.80206	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83903	0.5355	M	0.83774	2.66	0.80722	D	1	P;D	0.67145	0.895;0.996	P;D	0.75484	0.483;0.986	D	0.86055	0.1528	10	0.87932	D	0	-10.8946	19.2882	0.94087	0.0:0.0:1.0:0.0	.	438;438	Q6R327;Q6R327-3	RICTR_HUMAN;.	V	438	ENSP00000349959:L438V;ENSP00000296782:L438V	ENSP00000296782:L438V	L	-	1	0	RICTOR	39000739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.539000	0.82063	2.543000	0.85770	0.655000	0.94253	CTT		0.363	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		7	24	0	0	0	1	0	7	24				
IMMT	10989	broad.mit.edu	37	2	86371549	86371549	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:86371549C>A	ENST00000410111.3	-	15	2506	c.2119G>T	c.(2119-2121)Gca>Tca	p.A707S	IMMT_ENST00000449247.2_Missense_Mutation_p.A696S|IMMT_ENST00000254636.5_Missense_Mutation_p.A608S|IMMT_ENST00000409051.2_Missense_Mutation_p.A660S|IMMT_ENST00000442664.2_Missense_Mutation_p.A706S	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	707					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACAAACTTTGCTGCTAGCTCC	0.478																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2119-2121)Gca>Tca		inner membrane protein, mitochondrial							106.0	100.0	102.0					2																	86371549		1966	4168	6134	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86371549C>A	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.2119G>T	2.37:g.86371549C>A	ENSP00000387262:p.Ala707Ser					IMMT_ENST00000409051.2_Missense_Mutation_p.A660S|IMMT_ENST00000449247.2_Missense_Mutation_p.A696S|IMMT_ENST00000442664.2_Missense_Mutation_p.A706S|IMMT_ENST00000254636.5_Missense_Mutation_p.A608S	p.A707S	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			15	2506	-			707					B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.2119G>T	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.912680|4.912680	0.92178|0.92178	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.38560|.	1.13;1.13;1.13;1.13;1.13|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77532|0.77532	0.4144|0.4144	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.999;0.998|.	D;D;D;D;D|.	0.78314|.	0.983;0.991;0.984;0.984;0.991|.	T|T	0.75827|0.75827	-0.3180|-0.3180	10|5	0.62326|.	D|.	0.03|.	-12.172|-12.172	19.6359|19.6359	0.95733|0.95733	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	660;695;696;675;707|.	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;IMMT_HUMAN|.	S|I	608;696;707;706;660;696;675;321;608|561	ENSP00000254636:A608S;ENSP00000396899:A696S;ENSP00000387262:A707S;ENSP00000407788:A706S;ENSP00000387227:A660S|.	ENSP00000254636:A608S|.	A|S	-|-	1|2	0|0	IMMT|IMMT	86225060|86225060	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.980000|0.980000	0.70556|0.70556	7.651000|7.651000	0.83577|0.83577	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.478	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		18	61	1	0	5.03518e-11	1	5.38522e-11	18	61				
FARS2	10667	broad.mit.edu	37	6	5369021	5369021	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:5369021G>C	ENST00000324331.6	+	2	554	c.218G>C	c.(217-219)aGa>aCa	p.R73T	FARS2_ENST00000274680.4_Missense_Mutation_p.R73T			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	73					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GTCCTCACCAGAGTTGGCAGG	0.587																																						ENST00000324331.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(217-219)aGa>aCa		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						82.0	64.0	70.0					6																	5369021		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5369021G>C	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.218G>C	6.37:g.5369021G>C	ENSP00000316335:p.Arg73Thr					FARS2_ENST00000274680.4_Missense_Mutation_p.R73T	p.R73T			O95363	SYFM_HUMAN			2	554	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	73					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.218G>C	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475273	0.26511	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.53206	0.63;0.63	5.24	-4.45	0.03546	.	0.305357	0.38005	N	0.001856	T	0.12689	0.0308	N	0.25485	0.75	0.23795	N	0.996826	P	0.43662	0.814	B	0.38296	0.27	T	0.39354	-0.9618	10	0.22706	T	0.39	-13.2309	14.5826	0.68302	0.8921:0.0:0.1079:0.0	.	73	O95363	SYFM_HUMAN	T	73	ENSP00000274680:R73T;ENSP00000316335:R73T	ENSP00000274680:R73T	R	+	2	0	FARS2	5314020	0.467000	0.25831	0.173000	0.22940	0.599000	0.36880	1.025000	0.30090	-0.899000	0.03901	-0.218000	0.12543	AGA		0.587	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		7	60	0	0	0	1	0	7	60				
GRM6	2916	broad.mit.edu	37	5	178418925	178418925	+	Missense_Mutation	SNP	C	C	G	rs62638204		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:178418925C>G	ENST00000517717.1	-	3	702	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	GRM6_ENST00000231188.5_Missense_Mutation_p.E222Q|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	222					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGTTGCCCTCGGAGGCCAGC	0.617																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(664-666)Gag>Cag		glutamate receptor, metabotropic 6							78.0	65.0	70.0					5																	178418925		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178418925C>G	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.664G>C	5.37:g.178418925C>G	ENSP00000430767:p.Glu222Gln					GRM6_ENST00000517717.1_Missense_Mutation_p.E222Q	p.E222Q	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	2	842	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	222						Missense_Mutation	SNP	ENST00000517717.1	37	c.664G>C	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599128	0.87055	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.86366	-2.11;-2.11	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.95284	0.8470	M	0.93375	3.41	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.96060	0.9038	9	0.87932	D	0	.	17.2396	0.87009	0.0:1.0:0.0:0.0	.	222	O15303	GRM6_HUMAN	Q	170;222;222	ENSP00000231188:E222Q;ENSP00000430767:E222Q	ENSP00000231188:E222Q	E	-	1	0	GRM6	178351531	1.000000	0.71417	0.964000	0.40570	0.601000	0.36947	5.938000	0.70170	2.746000	0.94184	0.655000	0.94253	GAG		0.617	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			14	49	0	0	0	1	0	14	49				
SLC2A2	6514	broad.mit.edu	37	3	170727825	170727825	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:170727825G>C	ENST00000314251.3	-	4	497	c.418C>G	c.(418-420)Ctc>Gtc	p.L140V	SLC2A2_ENST00000382808.4_Missense_Mutation_p.L21V	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	140					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	CCCATCAAGAGAGCTCCAACT	0.343																																						ENST00000314251.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(418-420)Ctc>Gtc		solute carrier family 2 (facilitated glucose transporter), member 2							91.0	92.0	91.0					3																	170727825		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170727825G>C	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.418C>G	3.37:g.170727825G>C	ENSP00000323568:p.Leu140Val					SLC2A2_ENST00000382808.4_Missense_Mutation_p.L21V	p.L140V	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		4	497	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		140					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.418C>G	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083424	0.36758	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	D;D	0.82433	-1.61;-1.61	5.52	2.6	0.31112	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.182789	0.49305	D	0.000147	T	0.66761	0.2822	L	0.31207	0.915	0.50813	D	0.999894	B	0.11235	0.004	B	0.16289	0.015	T	0.53662	-0.8407	10	0.06099	T	0.92	.	7.055	0.25093	0.0694:0.1257:0.6745:0.1304	.	140	P11168	GTR2_HUMAN	V	140;21	ENSP00000323568:L140V;ENSP00000372258:L21V	ENSP00000323568:L140V	L	-	1	0	SLC2A2	172210519	1.000000	0.71417	0.966000	0.40874	0.969000	0.65631	3.747000	0.55134	0.669000	0.31146	0.655000	0.94253	CTC		0.343	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		8	64	0	0	0	1	0	8	64				
NRAP	4892	broad.mit.edu	37	10	115374043	115374043	+	Missense_Mutation	SNP	C	C	G	rs572210554		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:115374043C>G	ENST00000359988.3	-	29	3443	c.3199G>C	c.(3199-3201)Gag>Cag	p.E1067Q	NRAP_ENST00000369360.3_Missense_Mutation_p.E1040Q|NRAP_ENST00000360478.3_Missense_Mutation_p.E1032Q|NRAP_ENST00000369358.4_Missense_Mutation_p.E1075Q	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCAAATGCCTCTTTGTATTTG	0.463																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3223-3225)Gag>Cag		nebulin-related anchoring protein							169.0	149.0	156.0					10																	115374043		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115374043C>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3199G>C	10.37:g.115374043C>G	ENSP00000353078:p.Glu1067Gln					NRAP_ENST00000360478.3_Missense_Mutation_p.E1032Q|NRAP_ENST00000369360.3_Missense_Mutation_p.E1040Q|NRAP_ENST00000359988.3_Missense_Mutation_p.E1067Q	p.E1075Q			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	29	3467	-		Colorectal(252;0.0233)|Breast(234;0.188)	1067						Missense_Mutation	SNP	ENST00000359988.3	37	c.3223G>C	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926509	0.73327	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.65	5.65	0.86999	.	0.152282	0.64402	D	0.000016	T	0.70789	0.3264	M	0.64170	1.965	0.34943	D	0.750503	D;D;D	0.76494	0.996;0.999;0.974	D;D;D	0.68621	0.959;0.931;0.911	T	0.75764	-0.3203	10	0.48119	T	0.1	.	19.7243	0.96157	0.0:1.0:0.0:0.0	.	1067;1032;1067	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	Q	1075;1040;1067;1032	ENSP00000358365:E1075Q;ENSP00000358367:E1040Q;ENSP00000353078:E1067Q;ENSP00000353666:E1032Q	ENSP00000353078:E1067Q	E	-	1	0	NRAP	115364033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.151000	0.58105	2.665000	0.90641	0.650000	0.86243	GAG		0.463	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		20	91	0	0	0	1	0	20	91				
SIN3A	25942	broad.mit.edu	37	15	75676757	75676757	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr15:75676757C>G	ENST00000394947.3	-	17	3357	c.3043G>C	c.(3043-3045)Gag>Cag	p.E1015Q	SIN3A_ENST00000394949.4_Missense_Mutation_p.E1015Q|SIN3A_ENST00000360439.4_Missense_Mutation_p.E1015Q	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ACACAGATCTCATCACTCACG	0.468																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(3043-3045)Gag>Cag		SIN3 transcription regulator family member A							49.0	50.0	50.0					15																	75676757		2197	4293	6490	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75676757C>G	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3043G>C	15.37:g.75676757C>G	ENSP00000378402:p.Glu1015Gln					SIN3A_ENST00000360439.4_Missense_Mutation_p.E1015Q|SIN3A_ENST00000394949.4_Missense_Mutation_p.E1015Q	p.E1015Q	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			17	3357	-			1015						Missense_Mutation	SNP	ENST00000394947.3	37	c.3043G>C	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990694	0.74589	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.48836	0.8;0.8;0.8	6.0	6.0	0.97389	.	0.043995	0.85682	D	0.000000	T	0.52191	0.1719	M	0.75777	2.31	0.80722	D	1	B	0.32338	0.365	B	0.30401	0.115	T	0.49194	-0.8965	10	0.35671	T	0.21	-31.157	19.5479	0.95307	0.0:1.0:0.0:0.0	.	1015	Q96ST3	SIN3A_HUMAN	Q	1015	ENSP00000378402:E1015Q;ENSP00000378403:E1015Q;ENSP00000353622:E1015Q	ENSP00000353622:E1015Q	E	-	1	0	SIN3A	73463810	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.801000	0.85960	2.868000	0.98415	0.556000	0.70494	GAG		0.468	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		10	59	0	0	0	1	0	10	59				
SULT1A2	6799	broad.mit.edu	37	16	28606873	28606873	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr16:28606873G>C	ENST00000395630.1	-	3	622	c.272C>G	c.(271-273)tCa>tGa	p.S91*	SULT1A2_ENST00000533150.1_Nonsense_Mutation_p.S91*|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.S91*	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	91					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						ACACACACCTGAGGGAATCCC	0.587																																						ENST00000533150.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(271-273)tCa>tGa		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							92.0	88.0	89.0					16																	28606873		2197	4300	6497	SO:0001587	stop_gained	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28606873G>C	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.272C>G	16.37:g.28606873G>C	ENSP00000378992:p.Ser91*					SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.S91*|SULT1A2_ENST00000395630.1_Nonsense_Mutation_p.S91*	p.S91*			P50226	ST1A2_HUMAN			2	1388	-			91					A9QY25|P78393|Q14CJ7	Nonsense_Mutation	SNP	ENST00000395630.1	37	c.272C>G	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	g	39	7.348108	0.98228	.	.	ENSG00000197165	ENST00000533150;ENST00000335715;ENST00000395630;ENST00000526384	.	.	.	4.7	4.7	0.59300	.	0.720818	0.12527	N	0.461131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.1874	0.73016	0.0:0.0:1.0:0.0	.	.	.	.	X	91	.	ENSP00000338742:S91X	S	-	2	0	SULT1A2	28514374	1.000000	0.71417	0.967000	0.41034	0.780000	0.44128	5.197000	0.65141	2.148000	0.66965	0.556000	0.70494	TCA		0.587	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		15	73	0	0	0	1	0	15	73				
MYH15	22989	broad.mit.edu	37	3	108140005	108140005	+	Silent	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:108140005T>C	ENST00000273353.3	-	29	3875	c.3819A>G	c.(3817-3819)gcA>gcG	p.A1273A		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1273						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TATCTAGCTTTGCAGTTGCTT	0.458																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(3817-3819)gcA>gcG		myosin, heavy chain 15							232.0	213.0	219.0					3																	108140005		1941	4148	6089	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108140005T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3819A>G	3.37:g.108140005T>C							p.A1273A	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			29	3875	-			1273						Silent	SNP	ENST00000273353.3	37	c.3819A>G	CCDS43127.1																																																																																				0.458	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		37	124	0	0	0	1	0	37	124				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			645528							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		4	46	0	0	0	1	0	4	46				
TCHH	7062	broad.mit.edu	37	1	152081441	152081441	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:152081441C>T	ENST00000368804.1	-	2	4251	c.4252G>A	c.(4252-4254)Gag>Aag	p.E1418K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1418	23 X 26 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)			TGTTCCTCCTCGCGGAATTTT	0.582																																						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.(4252-4254)Gag>Aag		trichohyalin							66.0	69.0	68.0					1																	152081441		1893	4106	5999	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081441C>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.4252G>A	1.37:g.152081441C>T	ENSP00000357794:p.Glu1418Lys						p.E1418K	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4251	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1418			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4252G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	13.50	2.255172	0.39896	.	.	ENSG00000159450	ENST00000368804	T	0.04454	3.62	4.02	1.9	0.25705	.	.	.	.	.	T	0.02012	0.0063	M	0.65498	2.005	0.09310	N	1	D	0.61080	0.989	B	0.41619	0.361	T	0.45571	-0.9252	9	0.26408	T	0.33	.	6.0451	0.19755	0.0:0.5154:0.3768:0.1078	.	1418	Q07283	TRHY_HUMAN	K	1418	ENSP00000357794:E1418K	ENSP00000357794:E1418K	E	-	1	0	TCHH	150348065	0.000000	0.05858	0.008000	0.14137	0.496000	0.33645	-0.671000	0.05250	0.630000	0.30394	0.460000	0.39030	GAG		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		36	135	0	0	0	1	0	36	135				
KIAA1551	55196	broad.mit.edu	37	12	32135582	32135582	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr12:32135582C>G	ENST00000312561.4	+	4	2107	c.1693C>G	c.(1693-1695)Ccc>Gcc	p.P565A	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	565																	AATTTCTGTTCCCAAGTCCAT	0.378																																						ENST00000312561.4																			0											c.(1693-1695)Ccc>Gcc		KIAA1551							47.0	47.0	47.0					12																	32135582		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32135582C>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1693C>G	12.37:g.32135582C>G	ENSP00000310338:p.Pro565Ala					KIAA1551_ENST00000535596.1_Intron	p.P565A	NM_018169.3	NP_060639.3					4	2107	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1693C>G	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377926	0.42105	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.08102	3.82;3.13	4.46	2.43	0.29744	.	0.225918	0.22881	N	0.054507	T	0.06050	0.0157	L	0.29908	0.895	0.09310	N	1	P	0.46142	0.873	B	0.40101	0.319	T	0.33954	-0.9848	9	.	.	.	.	8.6436	0.33991	0.0:0.7303:0.1691:0.1006	.	565	Q9HCM1	CL035_HUMAN	A	565	ENSP00000310338:P565A;ENSP00000370442:P565A	.	P	+	1	0	C12orf35	32026849	0.010000	0.17322	0.052000	0.19188	0.036000	0.12997	-0.137000	0.10389	0.842000	0.35045	0.563000	0.77884	CCC		0.378	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		9	31	0	0	0	1	0	9	31				
GPR176	11245	broad.mit.edu	37	15	40212072	40212072	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr15:40212072G>T	ENST00000561100.1	-	1	1021	c.156C>A	c.(154-156)ttC>ttA	p.F52L	RP11-325N19.3_ENST00000558675.1_lincRNA|Y_RNA_ENST00000363435.1_RNA|GPR176_ENST00000299092.3_Missense_Mutation_p.F52L	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	52					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GCGAGCCTATGAAGATGACGA	0.736																																						ENST00000299092.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23						c.(154-156)ttC>ttA		G protein-coupled receptor 176							25.0	23.0	23.0					15																	40212072		2194	4291	6485	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40212072G>T	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.156C>A	15.37:g.40212072G>T	ENSP00000453076:p.Phe52Leu					GPR176_ENST00000561100.1_Missense_Mutation_p.F52L	p.F52L	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	1	354	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	52					Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.156C>A	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768671	0.49680	.	.	ENSG00000166073	ENST00000299092	T	0.30448	1.53	5.31	4.4	0.53042	.	0.060966	0.64402	D	0.000002	T	0.16727	0.0402	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04467	-1.0949	10	0.45353	T	0.12	-20.1399	8.2351	0.31620	0.1803:0.0:0.8197:0.0	.	52	Q14439	GP176_HUMAN	L	52	ENSP00000299092:F52L	ENSP00000299092:F52L	F	-	3	2	GPR176	37999364	0.999000	0.42202	0.996000	0.52242	0.990000	0.78478	2.299000	0.43611	1.231000	0.43661	0.561000	0.74099	TTC		0.736	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		4	15	1	0	1.23904e-05	1	1.27408e-05	4	15				
AMH	268	broad.mit.edu	37	19	2251939	2251939	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:2251939G>A	ENST00000221496.4	+	5	1688	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	556					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGCCACCGAGTGTGGCTG	0.706									Persistant Mullerian Duct Syndrome (type I and II)																													ENST00000221496.3																			0				lung(2)	2						c.(1666-1668)Gag>Aag		anti-Mullerian hormone							3.0	3.0	3.0					19																	2251939		1854	3714	5568	SO:0001583	missense	268	Persistant Mullerian Duct Syndrome (type I and II)	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity	g.chr19:2251939G>A	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"""Endogenous ligands"""	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.1666G>A	19.37:g.2251939G>A	ENSP00000221496:p.Glu556Lys						p.E556K	NM_000479.3	NP_000470.2	P03971	MIS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	2332	+		Hepatocellular(1079;0.137)	556					O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	37	c.1666G>A	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.202745	0.79127	.	.	ENSG00000104899	ENST00000221496	T	0.70516	-0.49	3.41	2.3	0.28687	Transforming growth factor-beta, C-terminal (3);	0.163883	0.40640	U	0.001048	T	0.76550	0.4003	L	0.51914	1.62	0.40678	D	0.982272	D	0.76494	0.999	D	0.70487	0.969	T	0.73636	-0.3920	10	0.34782	T	0.22	-19.3447	11.5207	0.50549	0.0:0.1835:0.8165:0.0	.	556	P03971	MIS_HUMAN	K	556	ENSP00000221496:E556K	ENSP00000221496:E556K	E	+	1	0	AMH	2202939	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.196000	0.51020	0.522000	0.28464	0.299000	0.19835	GAG		0.706	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479		3	9	0	0	0	1	0	3	9				
PDZD2	23037	broad.mit.edu	37	5	32090179	32090179	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:32090179G>A	ENST00000438447.1	+	20	7013	c.6625G>A	c.(6625-6627)Gag>Aag	p.E2209K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E2209K			O15018	PDZD2_HUMAN	PDZ domain containing 2	2209					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCCTCGGGGGAGGACCATCT	0.587																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6625-6627)Gag>Aag		PDZ domain containing 2							118.0	133.0	128.0					5																	32090179		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090179G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6625G>A	5.37:g.32090179G>A	ENSP00000402033:p.Glu2209Lys					PDZD2_ENST00000282493.3_Missense_Mutation_p.E2209K	p.E2209K			O15018	PDZD2_HUMAN			20	7013	+			2209					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.6625G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877567	0.33162	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07114	3.22;3.22	5.09	1.23	0.21249	.	0.384661	0.22087	N	0.064815	T	0.03783	0.0107	N	0.04959	-0.14	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38243	-0.9670	10	0.51188	T	0.08	.	7.3477	0.26672	0.3572:0.0:0.6428:0.0	.	2209	O15018	PDZD2_HUMAN	K	2209;2010;2209	ENSP00000402033:E2209K;ENSP00000282493:E2209K	ENSP00000282493:E2209K	E	+	1	0	PDZD2	32125936	0.011000	0.17503	0.001000	0.08648	0.114000	0.19823	1.496000	0.35638	0.531000	0.28639	-0.254000	0.11334	GAG		0.587	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			61	247	0	0	0	1	0	61	247				
CROCC	9696	broad.mit.edu	37	1	17257809	17257809	+	Silent	SNP	C	C	T	rs144262827		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:17257809C>T	ENST00000375541.5	+	8	942	c.873C>T	c.(871-873)aaC>aaT	p.N291N	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACTTCAGCAACGAGCACAGTC	0.622																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(871-873)aaC>aaT		ciliary rootlet coiled-coil, rootletin		C		1,4405	2.1+/-5.4	0,1,2202	123.0	92.0	102.0		873	-5.7	0.0	1	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CROCC	NM_014675.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		291/2018	17257809	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17257809C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.873C>T	1.37:g.17257809C>T						CROCC_ENST00000467938.1_3'UTR	p.N291N	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	8	942	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	291						Silent	SNP	ENST00000375541.5	37	c.873C>T	CCDS30616.1																																																																																				0.622	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		22	119	0	0	0	1	0	22	119				
MEP1B	4225	broad.mit.edu	37	18	29782855	29782855	+	Splice_Site	SNP	G	G	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:29782855G>T	ENST00000269202.6	+	6	297		c.e6-1		MEP1B_ENST00000581447.1_Splice_Site	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta						digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCTTCCTTCAGAAATGAATGC	0.348																																						ENST00000269202.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.e6-1		meprin A, beta							57.0	53.0	54.0					18																	29782855		1849	4084	5933	SO:0001630	splice_region_variant	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29782855G>T	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.251-1G>T	18.37:g.29782855G>T						MEP1B_ENST00000581447.1_Splice_Site		NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN			6	297	+								B7ZM35|B9EGL6|Q670J1	Splice_Site	SNP	ENST00000269202.6	37		CCDS45846.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589333	0.86851	.	.	ENSG00000141434	ENST00000269202	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7065	0.91640	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEP1B	28036853	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.837000	0.99465	2.659000	0.90383	0.655000	0.94253	.		0.348	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	Intron	4	8	1	0	1.23904e-05	1	1.27408e-05	4	8				
ZNF253	56242	broad.mit.edu	37	19	20002778	20002778	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:20002778C>G	ENST00000589717.1	+	4	814	c.722C>G	c.(721-723)tCa>tGa	p.S241*	ZNF253_ENST00000355650.4_Nonsense_Mutation_p.S165*|AC011477.1_ENST00000578823.1_RNA|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	241				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGCAGTCCTCAAACCTTACT	0.403																																						ENST00000589717.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(721-723)tCa>tGa		zinc finger protein 253							46.0	50.0	48.0					19																	20002778		2171	4286	6457	SO:0001587	stop_gained	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002778C>G	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.722C>G	19.37:g.20002778C>G	ENSP00000468720:p.Ser241*					ZNF253_ENST00000355650.4_Nonsense_Mutation_p.S165*	p.S241*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN			4	814	+			241	Missing (in Ref. 1; AAC26844).				A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Nonsense_Mutation	SNP	ENST00000589717.1	37	c.722C>G	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.350849	0.41599	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	0.876	0.19138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.9875	0.09522	0.409:0.591:0.0:0.0	.	.	.	.	X	241	.	.	S	+	2	0	ZNF253	19863778	0.000000	0.05858	0.073000	0.20177	0.073000	0.16967	-0.689000	0.05144	0.293000	0.22520	0.298000	0.19748	TCA		0.403	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		13	50	0	0	0	1	0	13	50				
SENP7	57337	broad.mit.edu	37	3	101090902	101090902	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:101090902C>T	ENST00000394095.2	-	7	799	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	SENP7_ENST00000358203.3_Missense_Mutation_p.R85Q|SENP7_ENST00000314261.7_Missense_Mutation_p.R183Q|SENP7_ENST00000348610.3_Missense_Mutation_p.R216Q|SENP7_ENST00000394094.2_Missense_Mutation_p.R184Q|SENP7_ENST00000394091.1_Missense_Mutation_p.R85Q	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	249						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCCTTTCTTCGTTTTTCTTT	0.353																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(745-747)cGa>cAa		SUMO1/sentrin specific peptidase 7							116.0	110.0	112.0					3																	101090902		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101090902C>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.746G>A	3.37:g.101090902C>T	ENSP00000377655:p.Arg249Gln					SENP7_ENST00000358203.3_Missense_Mutation_p.R85Q|SENP7_ENST00000394094.2_Missense_Mutation_p.R184Q|SENP7_ENST00000394091.1_Missense_Mutation_p.R85Q|SENP7_ENST00000314261.7_Missense_Mutation_p.R183Q|SENP7_ENST00000348610.3_Missense_Mutation_p.R216Q	p.R249Q	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			7	799	-			249					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.746G>A	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	3.425	-0.117349	0.06838	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18657	2.24;2.24;2.24;2.2;2.2;2.23	5.1	-3.7	0.04437	.	1.948520	0.02564	N	0.097111	T	0.13628	0.0330	N	0.16903	0.455	0.09310	N	1	B;B;B;B	0.20261	0.043;0.032;0.014;0.006	B;B;B;B	0.12837	0.005;0.008;0.005;0.001	T	0.25779	-1.0122	10	0.23891	T	0.37	0.5382	11.4412	0.50099	0.0:0.3063:0.0:0.6937	.	85;183;216;249	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	Q	249;184;183;85;85;216	ENSP00000377655:R249Q;ENSP00000377654:R184Q;ENSP00000313624:R183Q;ENSP00000377651:R85Q;ENSP00000350936:R85Q;ENSP00000342159:R216Q	ENSP00000313624:R183Q	R	-	2	0	SENP7	102573592	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	-0.438000	0.06905	-0.706000	0.05028	-0.225000	0.12378	CGA		0.353	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		10	44	0	0	0	1	0	10	44				
IQGAP1	8826	broad.mit.edu	37	15	91029307	91029307	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr15:91029307C>G	ENST00000268182.5	+	31	4091	c.3967C>G	c.(3967-3969)Cca>Gca	p.P1323A	IQGAP1_ENST00000560738.1_Missense_Mutation_p.P751A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1323	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCACAATGATCCAATCCACGA	0.502																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3967-3969)Cca>Gca		IQ motif containing GTPase activating protein 1							87.0	74.0	78.0					15																	91029307		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91029307C>G	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3967C>G	15.37:g.91029307C>G	ENSP00000268182:p.Pro1323Ala					IQGAP1_ENST00000560738.1_Missense_Mutation_p.P751A	p.P1323A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		31	4091	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1323			C2.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3967C>G	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727070	0.69074	.	.	ENSG00000140575	ENST00000268182	T	0.47528	0.84	5.46	5.46	0.80206	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.83223	2.63	0.80722	D	1	P	0.35192	0.489	B	0.30495	0.116	T	0.53005	-0.8499	10	0.21540	T	0.41	-18.895	18.239	0.89960	0.0:1.0:0.0:0.0	.	1323	P46940	IQGA1_HUMAN	A	1323	ENSP00000268182:P1323A	ENSP00000268182:P1323A	P	+	1	0	IQGAP1	88830311	1.000000	0.71417	0.218000	0.23776	0.971000	0.66376	5.955000	0.70306	2.724000	0.93272	0.557000	0.71058	CCA		0.502	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		7	18	0	0	0	1	0	7	18				
LRRTM1	347730	broad.mit.edu	37	2	80529668	80529668	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:80529668T>A	ENST00000295057.3	-	2	1933	c.1277A>T	c.(1276-1278)cAc>cTc	p.H426L	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H426L|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	426					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GACCACCTTGTGGATCTGCAC	0.657										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1276-1278)cAc>cTc		leucine rich repeat transmembrane neuronal 1							74.0	66.0	69.0					2																	80529668		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529668T>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1277A>T	2.37:g.80529668T>A	ENSP00000295057:p.His426Leu	HNSCC(69;0.2)				CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H426L	p.H426L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1933	-			426					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1277A>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147359	0.57151	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.42513	0.97;0.97	5.32	5.32	0.75619	.	0.069496	0.64402	U	0.000020	T	0.38427	0.1040	L	0.49778	1.585	0.80722	D	1	P	0.46064	0.872	B	0.39503	0.301	T	0.23547	-1.0185	9	.	.	.	.	15.2769	0.73748	0.0:0.0:0.0:1.0	.	426	Q86UE6	LRRT1_HUMAN	L	426	ENSP00000295057:H426L;ENSP00000386646:H426L	.	H	-	2	0	LRRTM1	80383179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	1.985000	0.57927	0.533000	0.62120	CAC		0.657	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		21	53	0	0	0	1	0	21	53				
UBR3	130507	broad.mit.edu	37	2	170938325	170938325	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:170938325G>C	ENST00000272793.5	+	39	5689	c.5639G>C	c.(5638-5640)aGa>aCa	p.R1880T	UBR3_ENST00000392631.1_Missense_Mutation_p.R701T|UBR3_ENST00000418381.1_Missense_Mutation_p.R1880T			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1880					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATCAATAAAAGATGGGGTCCA	0.373																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5638-5640)aGa>aCa		ubiquitin protein ligase E3 component n-recognin 3 (putative)							121.0	122.0	122.0					2																	170938325		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170938325G>C	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5639G>C	2.37:g.170938325G>C	ENSP00000272793:p.Arg1880Thr					UBR3_ENST00000392631.1_Missense_Mutation_p.R701T|UBR3_ENST00000418381.1_Missense_Mutation_p.R1880T	p.R1880T			Q6ZT12	UBR3_HUMAN			39	5689	+			1880					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.5639G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.565|9.565	1.119500|1.119500	0.20877|0.20877	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000392632|ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	.|T;T;T;T	.|0.54279	.|0.58;0.58;0.94;0.94	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61337|0.61337	0.2339|0.2339	N|N	0.17723|0.17723	0.515|0.515	0.47994|0.47994	D|D	0.999567|0.999567	.|D;D;D	.|0.67145	.|0.981;0.996;0.967	.|D;D;D	.|0.77557	.|0.966;0.99;0.916	T|T	0.62248|0.62248	-0.6894|-0.6894	5|10	.|0.45353	.|T	.|0.12	.|.	19.9658|19.9658	0.97266|0.97266	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1880;701;1909	.|Q6ZT12;Q6ZT12-2;E7EVK3	.|UBR3_HUMAN;.;.	H|T	942|1880;1909;1880;701;580	.|ENSP00000272793:R1880T;ENSP00000396068:R1880T;ENSP00000376408:R701T;ENSP00000389097:R580T	.|ENSP00000272793:R1880T	D|R	+|+	1|2	0|0	UBR3|UBR3	170646571|170646571	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	GAT|AGA		0.373	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		10	51	0	0	0	1	0	10	51				
TMEM169	92691	broad.mit.edu	37	2	216960780	216960780	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:216960780G>C	ENST00000295658.4	+	2	301	c.94G>C	c.(94-96)Gat>Cat	p.D32H	TMEM169_ENST00000454545.1_Missense_Mutation_p.D32H|TMEM169_ENST00000437356.2_Missense_Mutation_p.D32H|TMEM169_ENST00000406027.2_Missense_Mutation_p.D32H	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	32						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGCGCTGGATGGGGAATC	0.552																																						ENST00000454545.1																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13						c.(94-96)Gat>Cat		transmembrane protein 169							48.0	52.0	51.0					2																	216960780		2203	4300	6503	SO:0001583	missense	92691					integral to membrane		g.chr2:216960780G>C	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.94G>C	2.37:g.216960780G>C	ENSP00000295658:p.Asp32His					TMEM169_ENST00000437356.2_Missense_Mutation_p.D32H|TMEM169_ENST00000406027.2_Missense_Mutation_p.D32H|TMEM169_ENST00000295658.4_Missense_Mutation_p.D32H	p.D32H	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	420	+		Renal(323;0.0651)	32					B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	c.94G>C	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961806	0.53400	.	.	ENSG00000163449	ENST00000433112;ENST00000454545;ENST00000437356;ENST00000295658;ENST00000455479;ENST00000406027	.	.	.	4.88	4.0	0.46444	.	0.207641	0.49305	D	0.000152	T	0.62636	0.2444	M	0.62723	1.935	0.38092	D	0.936984	P	0.46656	0.882	P	0.51615	0.675	T	0.67960	-0.5535	9	0.62326	D	0.03	-43.8098	9.0543	0.36397	0.1676:0.0:0.8324:0.0	.	32	Q96HH4	TM169_HUMAN	H	32	.	ENSP00000295658:D32H	D	+	1	0	TMEM169	216669025	1.000000	0.71417	0.992000	0.48379	0.497000	0.33675	5.283000	0.65621	1.291000	0.44653	0.306000	0.20318	GAT		0.552	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		15	67	0	0	0	1	0	15	67				
GPT2	84706	broad.mit.edu	37	16	46960843	46960843	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr16:46960843C>G	ENST00000340124.4	+	11	1487	c.1375C>G	c.(1375-1377)Caa>Gaa	p.Q459E	GPT2_ENST00000440783.2_Missense_Mutation_p.Q359E	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	459					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	ATAGGCCCATCAAATGGCTCC	0.517																																						ENST00000440783.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(1075-1077)Caa>Gaa		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						110.0	94.0	100.0					16																	46960843		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46960843C>G		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1375C>G	16.37:g.46960843C>G	ENSP00000345282:p.Gln459Glu					GPT2_ENST00000340124.4_Missense_Mutation_p.Q459E	p.Q359E	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN			11	1740	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	459					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.1075C>G	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	C	3.691	-0.063601	0.07273	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.21031	2.03;2.07	5.24	1.78	0.24846	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.578785	0.19545	N	0.111706	T	0.09468	0.0233	N	0.10760	0.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23940	-1.0174	10	0.51188	T	0.08	.	5.8807	0.18854	0.5883:0.2806:0.1311:0.0	.	359;459	Q8TD30-2;Q8TD30	.;ALAT2_HUMAN	E	459;359	ENSP00000345282:Q459E;ENSP00000413804:Q359E	ENSP00000345282:Q459E	Q	+	1	0	GPT2	45518344	0.799000	0.28903	0.030000	0.17652	0.051000	0.14879	2.151000	0.42263	0.037000	0.15575	-1.053000	0.02334	CAA		0.517	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			13	42	0	0	0	1	0	13	42				
CSNK2A2	1459	broad.mit.edu	37	16	58201591	58201591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr16:58201591G>A	ENST00000262506.3	-	7	805	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						AAGTTTACCTGATAGTCCACG	0.438																																					Melanoma(54;119 1219 18349 35700 39738)	ENST00000262506.3																			0				central_nervous_system(1)	1						c.(622-624)Cag>Tag		casein kinase 2, alpha prime polypeptide							84.0	75.0	78.0					16																	58201591		2198	4300	6498	SO:0001587	stop_gained	1459				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr16:58201591G>A	M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.622C>T	16.37:g.58201591G>A	ENSP00000262506:p.Gln208*					CSNK2A2_ENST00000566813.1_5'UTR	p.Q208*	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN			7	805	-			208			Protein kinase.			Nonsense_Mutation	SNP	ENST00000262506.3	37	c.622C>T	CCDS10794.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403745	0.96051	.	.	ENSG00000070770	ENST00000262506	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.965	14.513	0.67800	0.0:0.0:1.0:0.0	.	.	.	.	X	208	.	ENSP00000262506:Q208X	Q	-	1	0	CSNK2A2	56759092	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	9.742000	0.98846	2.459000	0.83118	0.467000	0.42956	CAG		0.438	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896		20	43	0	0	0	1	0	20	43				
FANCF	2188	broad.mit.edu	37	11	22646256	22646256	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:22646256G>A	ENST00000327470.3	-	1	1131	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	367					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGCCTGCGCTGAGACCCAAAA	0.378			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327470.3			yes	Rec		Fanconi anaemia F	11	11p15	2188	"""N, F"""	"""Fanconi anemia, complementation group F"""			L		"""AML, leukemia"""			0				kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						c.(1099-1101)ctC>ctT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group F							108.0	101.0	104.0					11																	22646256		2203	4300	6503	SO:0001819	synonymous_variant	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22646256G>A		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.1101C>T	11.37:g.22646256G>A			OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757		p.L367L	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN			1	1131	-			367					Q52LM0	Silent	SNP	ENST00000327470.3	37	c.1101C>T	CCDS7857.1																																																																																				0.378	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		26	70	0	0	0	1	0	26	70				
ACSS1	84532	broad.mit.edu	37	20	25003652	25003652	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:25003652G>A	ENST00000323482.4	-	5	963	c.884C>T	c.(883-885)tCa>tTa	p.S295L	ACSS1_ENST00000542618.1_Missense_Mutation_p.S174L|ACSS1_ENST00000432802.2_Missense_Mutation_p.S295L|ACSS1_ENST00000537502.1_Missense_Mutation_p.S212L	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	295					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGTGCTCCCTGAGGTGTACAG	0.597																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(634-636)tCa>tTa		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						80.0	61.0	67.0					20																	25003652		2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25003652G>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.884C>T	20.37:g.25003652G>A	ENSP00000316924:p.Ser295Leu					ACSS1_ENST00000432802.2_Missense_Mutation_p.S295L|ACSS1_ENST00000323482.4_Missense_Mutation_p.S295L|ACSS1_ENST00000542618.1_Missense_Mutation_p.S174L	p.S212L			Q9NUB1	ACS2L_HUMAN			3	2166	-			295					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.635C>T	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286864	0.80803	.	.	ENSG00000154930	ENST00000323482;ENST00000537502;ENST00000432802;ENST00000542618	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.57	5.57	0.84162	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	H	0.99347	4.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.97331	0.9950	10	0.87932	D	0	-45.6955	18.1312	0.89602	0.0:0.0:1.0:0.0	.	295;295;212	Q9NUB1-2;Q9NUB1;Q6ZV30	.;ACS2L_HUMAN;.	L	295;212;295;174	ENSP00000316924:S295L;ENSP00000439304:S212L;ENSP00000388793:S295L;ENSP00000437657:S174L	ENSP00000316924:S295L	S	-	2	0	ACSS1	24951652	1.000000	0.71417	0.958000	0.39756	0.290000	0.27261	9.361000	0.97122	2.642000	0.89623	0.462000	0.41574	TCA		0.597	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		11	36	0	0	0	1	0	11	36				
AMBP	259	broad.mit.edu	37	9	116825030	116825030	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr9:116825030C>T	ENST00000265132.3	-	7	874	c.612G>A	c.(610-612)cgG>cgA	p.R204R		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	204					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCACAGCCCTCCGGACTCTCT	0.507																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(610-612)cgG>cgA		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						102.0	96.0	98.0					9																	116825030		2203	4300	6503	SO:0001819	synonymous_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116825030C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.612G>A	9.37:g.116825030C>T							p.R204R	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			7	874	-			204					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	c.612G>A	CCDS6800.1																																																																																				0.507	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		9	53	0	0	0	1	0	9	53				
HIVEP3	59269	broad.mit.edu	37	1	42045758	42045758	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:42045758G>T	ENST00000372583.1	-	4	5596	c.4711C>A	c.(4711-4713)Ctg>Atg	p.L1571M	HIVEP3_ENST00000372584.1_Missense_Mutation_p.L1571M|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1571M|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1571M	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1571					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GACAGAGGCAGAGAGCTCGGA	0.532																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(4711-4713)Ctg>Atg		human immunodeficiency virus type I enhancer binding protein 3							126.0	117.0	120.0					1																	42045758		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045758G>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4711C>A	1.37:g.42045758G>T	ENSP00000361664:p.Leu1571Met					HIVEP3_ENST00000372583.1_Missense_Mutation_p.L1571M|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1571M|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1571M	p.L1571M	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	5725	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1571					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4711C>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507405	0.27036	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06849	3.25;3.27;3.27;3.25	5.37	4.38	0.52667	.	0.426630	0.17510	N	0.171642	T	0.09512	0.0234	L	0.36672	1.1	0.31617	N	0.650783	P;P	0.46220	0.874;0.8	P;B	0.47528	0.549;0.347	T	0.02126	-1.1209	10	0.44086	T	0.13	-1.02	6.5187	0.22262	0.1001:0.2435:0.6565:0.0	.	1571;1571	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	M	1571	ENSP00000361665:L1571M;ENSP00000361664:L1571M;ENSP00000247584:L1571M;ENSP00000410828:L1571M	ENSP00000247584:L1571M	L	-	1	2	HIVEP3	41818345	0.985000	0.35326	1.000000	0.80357	0.983000	0.72400	1.695000	0.37763	2.793000	0.96121	0.655000	0.94253	CTG		0.532	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		22	108	1	0	4.35082e-09	1	4.60404e-09	22	108				
OR6F1	343169	broad.mit.edu	37	1	247875358	247875358	+	Missense_Mutation	SNP	G	G	A	rs200002263		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:247875358G>A	ENST00000302084.2	-	1	747	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTTTGCTCCGGCCACTGGCA	0.522																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(700-702)Cgg>Tgg		olfactory receptor, family 6, subfamily F, member 1							118.0	107.0	111.0					1																	247875358		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875358G>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.700C>T	1.37:g.247875358G>A	ENSP00000305640:p.Arg234Trp					RP11-634B7.4_ENST00000449298.1_RNA	p.R234W	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	747	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		234					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.700C>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	3.188	-0.166418	0.06461	.	.	ENSG00000169214	ENST00000302084	T	0.00335	8.06	3.72	-1.62	0.08372	GPCR, rhodopsin-like superfamily (1);	0.533866	0.15680	N	0.249965	T	0.00384	0.0012	M	0.87617	2.895	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.38156	-0.9674	10	0.87932	D	0	-8.5686	13.3973	0.60861	0.0:0.0:0.5299:0.4701	.	234	Q8NGZ6	OR6F1_HUMAN	W	234	ENSP00000305640:R234W	ENSP00000305640:R234W	R	-	1	2	OR6F1	245941981	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.673000	0.05239	-0.372000	0.07992	-0.293000	0.09583	CGG		0.522	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		63	118	0	0	0	1	0	63	118				
TNPO2	30000	broad.mit.edu	37	19	12829958	12829958	+	Silent	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:12829958G>C	ENST00000592287.1	-	4	318	c.210C>G	c.(208-210)ctC>ctG	p.L70L	TNPO2_ENST00000425528.1_Silent_p.L70L|TNPO2_ENST00000441499.1_Silent_p.L70L|TNPO2_ENST00000588216.1_Silent_p.L70L|TNPO2_ENST00000450764.2_Silent_p.L70L|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000356861.5_Silent_p.L70L	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	70	Importin N-terminal.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTTGTTCTTGAGGATGAGGC	0.577																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(208-210)ctC>ctG		transportin 2							104.0	106.0	105.0					19																	12829958		2056	4192	6248	SO:0001819	synonymous_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12829958G>C	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.210C>G	19.37:g.12829958G>C						TNPO2_ENST00000441499.1_Silent_p.L70L|TNPO2_ENST00000450764.2_Silent_p.L70L|TNPO2_ENST00000588216.1_Silent_p.L70L|TNPO2_ENST00000356861.5_Silent_p.L70L|TNPO2_ENST00000592287.1_Silent_p.L70L|TNPO2_ENST00000589956.1_5'UTR	p.L70L			O14787	TNPO2_HUMAN			5	567	-			70			Importin N-terminal.		O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	c.210C>G	CCDS45991.1																																																																																				0.577	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		21	60	0	0	0	1	0	21	60				
KIDINS220	57498	broad.mit.edu	37	2	8890400	8890400	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:8890400C>T	ENST00000256707.3	-	24	3437	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K	KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1086K|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1086K|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1044K	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1086					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGAGGACCCTCATGTAGAGGG	0.582																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(3256-3258)Gag>Aag		kinase D-interacting substrate, 220kDa							55.0	58.0	57.0					2																	8890400		1962	4134	6096	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8890400C>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3256G>A	2.37:g.8890400C>T	ENSP00000256707:p.Glu1086Lys					KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1086K|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1086K|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1044K	p.E1086K	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			24	3437	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1086					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.3256G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466903	0.43839	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.66995	0.93;-0.24;-0.19;-0.1;-0.19;-0.13	5.79	5.79	0.91817	.	0.264078	0.42821	D	0.000660	T	0.63710	0.2534	L	0.44542	1.39	0.80722	D	1	B;B;P;B;B	0.35527	0.039;0.005;0.507;0.265;0.1	B;B;B;B;B	0.36922	0.024;0.017;0.184;0.236;0.119	T	0.59915	-0.7364	10	0.31617	T	0.26	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	1087;1087;770;1044;1086	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	K	833;770;1086;1086;1044;1086;1087;95	ENSP00000420364:E833K;ENSP00000256707:E1086K;ENSP00000411849:E1086K;ENSP00000414923:E1044K;ENSP00000418974:E1086K;ENSP00000419964:E1087K	ENSP00000256707:E1086K	E	-	1	0	KIDINS220	8807851	1.000000	0.71417	0.201000	0.23476	0.010000	0.07245	7.487000	0.81328	2.733000	0.93635	0.655000	0.94253	GAG		0.582	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		16	65	0	0	0	1	0	16	65				
DESI2	51029	broad.mit.edu	37	1	244869039	244869039	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:244869039C>T	ENST00000302550.11	+	5	912	c.533C>T	c.(532-534)tCc>tTc	p.S178F	DESI2_ENST00000263831.7_Missense_Mutation_p.S145F	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	178						cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										GCATCCGCTTCCGTGGCAAGC	0.567																																						ENST00000302550.11																			0											c.(532-534)tCc>tTc		desumoylating isopeptidase 2							35.0	38.0	37.0					1																	244869039		2202	4300	6502	SO:0001583	missense	51029							g.chr1:244869039C>T	AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"""chromosome 1 open reading frame 121"", ""family with sequence similarity 152, member A"", ""PPPDE peptidase domain containing 1"""	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.533C>T	1.37:g.244869039C>T	ENSP00000306528:p.Ser178Phe					DESI2_ENST00000263831.7_Missense_Mutation_p.S145F	p.S178F	NM_016076.3	NP_057160.2	Q9BSY9	PPDE1_HUMAN			5	912	+			178					B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Missense_Mutation	SNP	ENST00000302550.11	37	c.533C>T	CCDS1626.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549504	0.27652	.	.	ENSG00000121644	ENST00000302550;ENST00000263831	.	.	.	6.03	4.94	0.65067	.	0.467804	0.27836	N	0.017649	T	0.43545	0.1252	L	0.43152	1.355	0.28257	N	0.924991	B;B	0.28512	0.141;0.214	B;B	0.29267	0.1;0.043	T	0.46721	-0.9171	9	0.56958	D	0.05	.	16.1983	0.82046	0.0:0.9267:0.0:0.0733	.	145;178	Q9BSY9-2;Q9BSY9	.;PPDE1_HUMAN	F	178;145	.	ENSP00000263831:S145F	S	+	2	0	PPPDE1	242935662	0.565000	0.26610	0.019000	0.16419	0.415000	0.31203	3.014000	0.49590	2.854000	0.98071	0.655000	0.94253	TCC		0.567	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097168.1	NM_016076		18	74	0	0	0	1	0	18	74				
PLEKHG2	64857	broad.mit.edu	37	19	39915990	39915990	+	3'UTR	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:39915990C>G	ENST00000409794.3	+	0	5067				CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000409797.2_3'UTR|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.Q1229E|PLEKHG2_ENST00000425673.1_3'UTR	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CATAGACCCTCAGAACTTGAC	0.572																																						ENST00000458508.2																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(3685-3687)Cag>Gag		pleckstrin homology domain containing, family G (with RhoGef domain) member 2																																				SO:0001624	3_prime_UTR_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39915990C>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.*56C>G	19.37:g.39915990C>G						PLEKHG2_ENST00000425673.1_3'UTR|PLEKHG2_ENST00000409797.2_3'UTR|PLEKHG2_ENST00000409794.3_3'UTR	p.Q1229E			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		20	3811	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		0					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.3685C>G	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	6.527	0.465474	0.12402	.	.	ENSG00000090924	ENST00000458508	T	0.68624	-0.34	3.95	2.9	0.33743	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.09310	N	1	B	0.29037	0.231	B	0.21917	0.037	T	0.24048	-1.0171	7	.	.	.	.	6.7918	0.23703	0.0:0.8668:0.0:0.1332	.	1229	E7ESZ3	.	E	1229	ENSP00000408857:Q1229E	.	Q	+	1	0	PLEKHG2	44607830	0.000000	0.05858	0.003000	0.11579	0.095000	0.18619	0.044000	0.13992	0.994000	0.38892	0.655000	0.94253	CAG		0.572	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		3	35	0	0	0	1	0	3	35				
BOK	666	broad.mit.edu	37	2	242511758	242511758	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:242511758C>T	ENST00000318407.3	+	5	862	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	187					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell proliferation (GO:0008283)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|neuron apoptotic process (GO:0051402)|oligodendrocyte differentiation (GO:0048709)|positive regulation of apoptotic process (GO:0043065)|positive regulation of execution phase of apoptosis (GO:1900119)	cytoplasm (GO:0005737)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)	5		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;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		GGCCTCCGCTCCCACTGGCTG	0.642																																						ENST00000318407.3																			0				large_intestine(1)|lung(3)|ovary(1)	5						c.(559-561)tCc>tTc		BCL2-related ovarian killer							57.0	46.0	50.0					2																	242511758		2203	4300	6503	SO:0001583	missense	666				activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus		g.chr2:242511758C>T	AF174487	CCDS2550.1	2q37.3	2008-05-22			ENSG00000176720	ENSG00000176720			1087	protein-coding gene	gene with protein product		605404				9356461, 11034351, 15102863	Standard	NM_032515		Approved	BCL2L9, BOKL, MGC4631	uc002wbq.3	Q9UMX3	OTTHUMG00000133411	ENST00000318407.3:c.560C>T	2.37:g.242511758C>T	ENSP00000314132:p.Ser187Phe						p.S187F	NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)	5	862	+		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)	187						Missense_Mutation	SNP	ENST00000318407.3	37	c.560C>T	CCDS2550.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543927	0.86022	.	.	ENSG00000176720	ENST00000318407	T	0.45276	0.9	4.96	4.96	0.65561	.	0.060844	0.64402	D	0.000002	T	0.35740	0.0942	L	0.32530	0.975	0.80722	D	1	P	0.49961	0.93	P	0.44732	0.459	T	0.09773	-1.0659	10	0.08837	T	0.75	-25.603	18.1918	0.89809	0.0:1.0:0.0:0.0	.	187	Q9UMX3	BOK_HUMAN	F	187	ENSP00000314132:S187F	ENSP00000314132:S187F	S	+	2	0	BOK	242160431	0.986000	0.35501	1.000000	0.80357	0.982000	0.71751	6.613000	0.74192	2.264000	0.75181	0.563000	0.77884	TCC		0.642	BOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257268.2	NM_032515		7	24	0	0	0	1	0	7	24				
EML1	2009	broad.mit.edu	37	14	100363537	100363537	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr14:100363537G>C	ENST00000262233.6	+	7	872	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	EML1_ENST00000327921.9_Missense_Mutation_p.E233Q|EML1_ENST00000334192.4_Missense_Mutation_p.E264Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	245	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCCGACGGGAGAGACCGTCTA	0.488																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(733-735)Gag>Cag		echinoderm microtubule associated protein like 1							142.0	121.0	128.0					14																	100363537		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100363537G>C	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.733G>C	14.37:g.100363537G>C	ENSP00000262233:p.Glu245Gln					EML1_ENST00000334192.4_Missense_Mutation_p.E264Q|EML1_ENST00000327921.9_Missense_Mutation_p.E233Q	p.E245Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			7	872	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	245					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.733G>C	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392308	0.95988	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714	T;T;T;T;T	0.41065	1.2;1.01;1.01;1.01;1.2	5.3	5.3	0.74995	HELP (1);Quinonprotein alcohol dehydrogenase-like (1);	0.100213	0.64402	D	0.000002	T	0.67822	0.2934	M	0.81239	2.535	0.80722	D	1	D;D;P;D;D	0.76494	0.995;0.991;0.941;0.999;0.996	P;P;P;D;D	0.70487	0.87;0.891;0.823;0.969;0.953	T	0.72683	-0.4219	10	0.87932	D	0	-35.2229	18.9694	0.92709	0.0:0.0:1.0:0.0	.	233;233;245;264;264	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	Q	232;233;245;264;264;214	ENSP00000451346:E232Q;ENSP00000327384:E233Q;ENSP00000262233:E245Q;ENSP00000334314:E264Q;ENSP00000452089:E214Q	ENSP00000262233:E245Q	E	+	1	0	EML1	99433290	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	9.675000	0.98638	2.485000	0.83878	0.655000	0.94253	GAG		0.488	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		19	64	0	0	0	1	0	19	64				
OR10A4	283297	broad.mit.edu	37	11	6897953	6897953	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:6897953G>C	ENST00000379829.2	+	1	98	c.75G>C	c.(73-75)caG>caC	p.Q25H		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	25					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGAGCTTCAGGCTCTACTGT	0.458																																						ENST00000379829.2																			0				kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(73-75)caG>caC		olfactory receptor, family 10, subfamily A, member 4							190.0	177.0	182.0					11																	6897953		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6897953G>C	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.75G>C	11.37:g.6897953G>C	ENSP00000369157:p.Gln25His						p.Q25H	NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	98	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	25					B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.75G>C	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	g	8.823	0.937988	0.18206	.	.	ENSG00000170782	ENST00000379829	T	0.00601	6.29	4.98	-0.634	0.11516	.	0.168848	0.28209	N	0.016186	T	0.01558	0.0050	M	0.71036	2.16	0.09310	N	1	D	0.61080	0.989	P	0.62014	0.897	T	0.34576	-0.9823	10	0.59425	D	0.04	.	8.4323	0.32766	0.5572:0.0:0.4428:0.0	.	25	Q9H209	O10A4_HUMAN	H	25	ENSP00000369157:Q25H	ENSP00000369157:Q25H	Q	+	3	2	OR10A4	6854529	0.000000	0.05858	0.079000	0.20413	0.075000	0.17131	-0.529000	0.06186	-0.193000	0.10415	-0.156000	0.13503	CAG		0.458	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		35	101	0	0	0	1	0	35	101				
DIP2B	57609	broad.mit.edu	37	12	51126172	51126172	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr12:51126172C>T	ENST00000301180.5	+	32	3868	c.3834C>T	c.(3832-3834)tgC>tgT	p.C1278C		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1278						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ACCTCTCCTGCGTCCGGACCT	0.562																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(3832-3834)tgC>tgT		DIP2 disco-interacting protein 2 homolog B (Drosophila)							92.0	84.0	87.0					12																	51126172		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51126172C>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3834C>T	12.37:g.51126172C>T							p.C1278C	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			32	3868	+			1278					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.3834C>T	CCDS31799.1																																																																																				0.562	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		15	75	0	0	0	1	0	15	75				
PTDSS1	9791	broad.mit.edu	37	8	97299290	97299290	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr8:97299290C>T	ENST00000517309.1	+	4	683	c.357C>T	c.(355-357)ctC>ctT	p.L119L	PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	119					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TATTCCTACTCTTCCTGAATT	0.413																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(355-357)ctC>ctT		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						311.0	288.0	295.0					8																	97299290		2203	4300	6503	SO:0001819	synonymous_variant	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97299290C>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.357C>T	8.37:g.97299290C>T						PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	p.L119L	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			4	683	+	Breast(36;6.18e-05)		119					E5RFC5|Q9BUQ5	Silent	SNP	ENST00000517309.1	37	c.357C>T	CCDS6271.1																																																																																				0.413	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			36	139	0	0	0	1	0	36	139				
SAMD4B	55095	broad.mit.edu	37	19	39874164	39874164	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:39874164C>T	ENST00000314471.6	+	16	3117	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	SAMD4B_ENST00000598913.1_Intron|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	694					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCTCCACCATCTGACGGGACC	0.647																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(2080-2082)atC>atT		sterile alpha motif domain containing 4B							93.0	89.0	90.0					19																	39874164		2203	4300	6503	SO:0001819	synonymous_variant	55095						protein binding	g.chr19:39874164C>T		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.2082C>T	19.37:g.39874164C>T						SAMD4B_ENST00000598913.1_Intron|SAMD4B_ENST00000596368.1_Intron	p.I694I	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		16	3117	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		694					A5Z0M6|Q6P194	Silent	SNP	ENST00000314471.6	37	c.2082C>T	CCDS33020.1																																																																																				0.647	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		38	107	0	0	0	1	0	38	107				
MAGEB16	139604	broad.mit.edu	37	X	35820394	35820394	+	Silent	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrX:35820394T>C	ENST00000399989.1	+	2	360	c.81T>C	c.(79-81)gtT>gtC	p.V27V	MAGEB16_ENST00000399987.1_Silent_p.V27V|MAGEB16_ENST00000399988.1_Silent_p.V27V|MAGEB16_ENST00000399985.1_Silent_p.V27V|MAGEB16_ENST00000399992.1_Silent_p.V59V	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	27										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCTGGAGGTTGCACAGGTCT	0.562																																						ENST00000399989.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(79-81)gtT>gtC		melanoma antigen family B, 16							41.0	42.0	42.0					X																	35820394		2048	4181	6229	SO:0001819	synonymous_variant	139604							g.chrX:35820394T>C		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.81T>C	X.37:g.35820394T>C						MAGEB16_ENST00000399992.1_Silent_p.V59V|MAGEB16_ENST00000399987.1_Silent_p.V27V|MAGEB16_ENST00000399988.1_Silent_p.V27V|MAGEB16_ENST00000399985.1_Silent_p.V27V	p.V27V	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN			2	360	+			27					A8MU30	Silent	SNP	ENST00000399989.1	37	c.81T>C	CCDS43927.1																																																																																				0.562	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			15	13	0	0	0	1	0	15	13				
MAP1B	4131	broad.mit.edu	37	5	71492935	71492935	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:71492935C>T	ENST00000296755.7	+	5	4051	c.3753C>T	c.(3751-3753)gtC>gtT	p.V1251V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1251					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTGAAAAGGTCAGCCCATCGA	0.502																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3751-3753)gtC>gtT		microtubule-associated protein 1B							94.0	90.0	92.0					5																	71492935		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492935C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3753C>T	5.37:g.71492935C>T							p.V1251V	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4051	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1251					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.3753C>T	CCDS4012.1																																																																																				0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		15	58	0	0	0	1	0	15	58				
ASAP3	55616	broad.mit.edu	37	1	23779205	23779205	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:23779205C>T	ENST00000336689.3	-	4	452	c.408G>A	c.(406-408)ctG>ctA	p.L136L	ASAP3_ENST00000437606.2_Silent_p.L136L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	136					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GACCGTCCCTCAGCTGCCCCT	0.572																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(406-408)ctG>ctA		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							183.0	174.0	177.0					1																	23779205		2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23779205C>T	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.408G>A	1.37:g.23779205C>T						ASAP3_ENST00000437606.2_Silent_p.L136L	p.L136L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			4	452	-			136					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.408G>A	CCDS235.1																																																																																				0.572	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		68	281	0	0	0	1	0	68	281				
KLHL11	55175	broad.mit.edu	37	17	40021244	40021244	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:40021244G>A	ENST00000319121.3	-	1	440	c.380C>T	c.(379-381)tCg>tTg	p.S127L	ACLY_ENST00000588779.1_5'Flank	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	127	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				AAACTGGCCCGAGAGCAGGGG	0.677																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(379-381)tCg>tTg		kelch-like family member 11							20.0	23.0	22.0					17																	40021244		2198	4289	6487	SO:0001583	missense	55175					extracellular region		g.chr17:40021244G>A		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.380C>T	17.37:g.40021244G>A	ENSP00000314608:p.Ser127Leu						p.S127L	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			1	440	-		Breast(137;0.00156)	127			BTB.			Missense_Mutation	SNP	ENST00000319121.3	37	c.380C>T	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.158135	0.78114	.	.	ENSG00000178502	ENST00000319121	T	0.67523	-0.27	4.69	4.69	0.59074	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.325421	0.29668	N	0.011507	T	0.50633	0.1627	N	0.16037	0.36	0.44136	D	0.996922	B	0.28971	0.229	B	0.13407	0.009	T	0.56171	-0.8023	10	0.87932	D	0	-0.7792	17.8294	0.88676	0.0:0.0:1.0:0.0	.	127	Q9NVR0	KLH11_HUMAN	L	127	ENSP00000314608:S127L	ENSP00000314608:S127L	S	-	2	0	KLHL11	37274770	1.000000	0.71417	0.990000	0.47175	0.935000	0.57460	5.242000	0.65389	2.437000	0.82529	0.645000	0.84053	TCG		0.677	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		9	38	0	0	0	1	0	9	38				
DNM1	1759	broad.mit.edu	37	9	131008756	131008756	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr9:131008756C>G	ENST00000372923.3	+	16	1847	c.1755C>G	c.(1753-1755)atC>atG	p.I585M	DNM1_ENST00000475805.1_Missense_Mutation_p.I585M|DNM1_ENST00000341179.7_Missense_Mutation_p.I585M|MIR3154_ENST00000577829.1_RNA|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000393594.3_Missense_Mutation_p.I585M|DNM1_ENST00000486160.1_Missense_Mutation_p.I585M	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	585	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCAAGCATATCTTTGCCCTCT	0.557																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1753-1755)atC>atG		dynamin 1							186.0	133.0	151.0					9																	131008756		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131008756C>G	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1755C>G	9.37:g.131008756C>G	ENSP00000362014:p.Ile585Met					DNM1_ENST00000486160.1_Missense_Mutation_p.I585M|DNM1_ENST00000475805.1_Missense_Mutation_p.I585M|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000393594.3_Missense_Mutation_p.I585M|DNM1_ENST00000372923.3_Missense_Mutation_p.I585M	p.I585M	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			16	1847	+			585			PH.		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1755C>G	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751505	0.49257	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	4.71	0.0923	0.14472	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.67702	0.2921	L	0.43152	1.355	0.50039	D	0.999842	P;B	0.42871	0.792;0.249	P;B	0.50970	0.655;0.4	T	0.58901	-0.7554	10	0.27785	T	0.31	-4.0691	3.6522	0.08208	0.2864:0.4516:0.0:0.2621	.	585;585	Q05193;Q05193-3	DYN1_HUMAN;.	M	585;585;585;580;585;585;130	ENSP00000419225:I585M;ENSP00000345680:I585M;ENSP00000362014:I585M;ENSP00000377219:I585M;ENSP00000420045:I585M	ENSP00000345680:I585M	I	+	3	3	DNM1	130048577	0.999000	0.42202	0.844000	0.33320	0.982000	0.71751	0.700000	0.25601	-0.164000	0.10927	0.498000	0.49722	ATC		0.557	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		4	42	0	0	0	1	0	4	42				
CEP192	55125	broad.mit.edu	37	18	13057601	13057601	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:13057601G>A	ENST00000325971.8	+	18	3931	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	CEP192_ENST00000506447.1_Missense_Mutation_p.E1376K|CEP192_ENST00000430049.2_Missense_Mutation_p.E901K			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	780					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCGAGTGCCCGAGGAGTTGAA	0.502																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4126-4128)Gag>Aag		centrosomal protein 192kDa							151.0	120.0	130.0					18																	13057601		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13057601G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2338G>A	18.37:g.13057601G>A	ENSP00000317156:p.Glu780Lys					CEP192_ENST00000325971.8_Missense_Mutation_p.E780K|CEP192_ENST00000430049.2_Missense_Mutation_p.E901K	p.E1376K	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			20	4206	+			971					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4126G>A		.	.	.	.	.	.	.	.	.	.	G	16.67	3.186668	0.57909	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.08458	3.09;3.12;3.13	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000015	T	0.25644	0.0624	M	0.64997	1.995	0.39951	D	0.974536	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.77004	0.946;0.805;0.989	T	0.00356	-1.1793	10	0.49607	T	0.09	-16.5772	14.3195	0.66476	0.0:0.0:0.8516:0.1483	.	901;1376;780	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	K	1376;780;780;901	ENSP00000427550:E1376K;ENSP00000317156:E780K;ENSP00000389190:E901K	ENSP00000317156:E780K	E	+	1	0	CEP192	13047601	1.000000	0.71417	0.954000	0.39281	0.022000	0.10575	5.579000	0.67457	2.591000	0.87537	0.650000	0.86243	GAG		0.502	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		12	35	0	0	0	1	0	12	35				
SMC3	9126	broad.mit.edu	37	10	112343948	112343948	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:112343948C>G	ENST00000361804.4	+	13	1225	c.1099C>G	c.(1099-1101)Caa>Gaa	p.Q367E		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	367					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TAGATTGGCTCAAGCTACCCA	0.378																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1099-1101)Caa>Gaa		structural maintenance of chromosomes 3							90.0	90.0	90.0					10																	112343948		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112343948C>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1099C>G	10.37:g.112343948C>G	ENSP00000354720:p.Gln367Glu						p.Q367E	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	13	1225	+		Breast(234;0.0848)|Lung NSC(174;0.238)	367					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.1099C>G	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	7.000	0.554743	0.13436	.	.	ENSG00000108055	ENST00000361804	T	0.74526	-0.85	5.72	5.72	0.89469	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	N	0.01202	-0.96	0.80722	D	1	B	0.17038	0.02	B	0.16289	0.015	T	0.56044	-0.8044	10	0.02654	T	1	.	19.9535	0.97211	0.0:1.0:0.0:0.0	.	367	Q9UQE7	SMC3_HUMAN	E	367	ENSP00000354720:Q367E	ENSP00000354720:Q367E	Q	+	1	0	SMC3	112333938	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.430000	0.80321	2.721000	0.93114	0.454000	0.30748	CAA		0.378	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		5	50	0	0	0	1	0	5	50				
SWT1	54823	broad.mit.edu	37	1	185173910	185173910	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:185173910C>G	ENST00000367500.4	+	12	1913	c.1748C>G	c.(1747-1749)tCt>tGt	p.S583C	SWT1_ENST00000367501.3_Missense_Mutation_p.S583C	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	583										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGCATTGTATCTGATCTTGAA	0.343																																						ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(1747-1749)tCt>tGt		SWT1 RNA endoribonuclease homolog (S. cerevisiae)							73.0	75.0	74.0					1																	185173910		2203	4295	6498	SO:0001583	missense	54823							g.chr1:185173910C>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1748C>G	1.37:g.185173910C>G	ENSP00000356470:p.Ser583Cys					SWT1_ENST00000367501.3_Missense_Mutation_p.S583C	p.S583C	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			12	1913	+			583					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.1748C>G	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305271	0.23736	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19105	2.17;2.17	5.79	4.84	0.62591	.	0.552403	0.19866	N	0.104312	T	0.11836	0.0288	N	0.12746	0.255	0.28212	N	0.926908	B	0.10296	0.003	B	0.06405	0.002	T	0.12630	-1.0540	10	0.40728	T	0.16	.	8.8669	0.35291	0.0:0.7153:0.2046:0.0801	.	583	Q5T5J6	SWT1_HUMAN	C	583	ENSP00000356471:S583C;ENSP00000356470:S583C	ENSP00000356470:S583C	S	+	2	0	SWT1	183440533	0.945000	0.32115	0.890000	0.34922	0.963000	0.63663	1.234000	0.32660	1.317000	0.45149	0.585000	0.79938	TCT		0.343	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		19	38	0	0	0	1	0	19	38				
CCL24	6369	broad.mit.edu	37	7	75441279	75441279	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:75441279G>A	ENST00000416943.1	-	4	288	c.195C>T	c.(193-195)ttC>ttT	p.F65F	CCL24_ENST00000222902.2_Silent_p.F65F	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	65					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						TCTTGGTGGTGAAGCTGTGGA	0.592																																						ENST00000416943.1																			0				endometrium(1)|lung(2)	3						c.(193-195)ttC>ttT		chemokine (C-C motif) ligand 24							77.0	64.0	68.0					7																	75441279		2203	4300	6503	SO:0001819	synonymous_variant	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75441279G>A	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"""Chemokine ligands"", ""Endogenous ligands"""	10623	protein-coding gene	gene with protein product	"""CK-beta-6"", ""myeloid progenitor inhibitory factor 2"", ""eotaxin-2"""	602495	"""small inducible cytokine subfamily A (Cys-Cys), member 24"""	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.195C>T	7.37:g.75441279G>A						CCL24_ENST00000222902.2_Silent_p.F65F	p.F65F	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN			4	288	-			65					B2R5K2	Silent	SNP	ENST00000416943.1	37	c.195C>T	CCDS34670.1																																																																																				0.592	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		10	58	0	0	0	1	0	10	58				
NSMCE4A	54780	broad.mit.edu	37	10	123727232	123727232	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:123727232G>A	ENST00000369023.3	-	4	642	c.591C>T	c.(589-591)tcC>tcT	p.S197S	NSMCE4A_ENST00000369017.5_Silent_p.S197S|NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000538652.1_Silent_p.S38S	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	197					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TTATCTTCCAGGAGTCATAGA	0.363																																						ENST00000538652.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6						c.(112-114)tcC>tcT		non-SMC element 4 homolog A (S. cerevisiae)							181.0	177.0	178.0					10																	123727232		2203	4300	6503	SO:0001819	synonymous_variant	54780							g.chr10:123727232G>A	AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"""chromosome 10 open reading frame 86"""	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.591C>T	10.37:g.123727232G>A						NSMCE4A_ENST00000369017.5_Silent_p.S197S|NSMCE4A_ENST00000369023.3_Silent_p.S197S|NSMCE4A_ENST00000489266.1_5'UTR	p.S38S			Q9NXX6	NSE4A_HUMAN			4	751	-		all_neural(114;0.138)|Glioma(114;0.222)	197					Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Silent	SNP	ENST00000369023.3	37	c.114C>T	CCDS7624.1																																																																																				0.363	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050749.1	NM_017615		20	74	0	0	0	1	0	20	74				
ZNF331	55422	broad.mit.edu	37	19	54080760	54080760	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:54080760C>G	ENST00000253144.9	+	7	2279	c.946C>G	c.(946-948)Cag>Gag	p.Q316E	ZNF331_ENST00000513999.1_Missense_Mutation_p.Q316E|ZNF331_ENST00000449416.1_Missense_Mutation_p.Q316E|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000511154.1_Missense_Mutation_p.Q316E|ZNF331_ENST00000512387.1_Missense_Mutation_p.Q316E|ZNF331_ENST00000411977.2_Missense_Mutation_p.Q316E|ZNF331_ENST00000511593.2_Missense_Mutation_p.Q316E	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TTACCTTACTCAGCATCAGAA	0.478			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(946-948)Cag>Gag		zinc finger protein 331							88.0	80.0	83.0					19																	54080760		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080760C>G	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.946C>G	19.37:g.54080760C>G	ENSP00000253144:p.Gln316Glu					ZNF331_ENST00000513999.1_Missense_Mutation_p.Q316E|ZNF331_ENST00000449416.1_Missense_Mutation_p.Q316E|ZNF331_ENST00000411977.2_Missense_Mutation_p.Q316E|ZNF331_ENST00000511154.1_Missense_Mutation_p.Q316E|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000511593.2_Missense_Mutation_p.Q316E|ZNF331_ENST00000512387.1_Missense_Mutation_p.Q316E	p.Q316E	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2279	+			316					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.946C>G	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	C	0.499	-0.871837	0.02570	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	3.91	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33199	N	0.005169	T	0.17746	0.0426	N	0.12853	0.265	0.09310	N	1	P	0.42123	0.771	B	0.41723	0.365	T	0.20638	-1.0269	10	0.05351	T	0.99	.	11.2915	0.49252	0.0:0.8128:0.1872:0.0	.	316	Q9NQX6	ZN331_HUMAN	E	316	ENSP00000253144:Q316E;ENSP00000427439:Q316E;ENSP00000393817:Q316E;ENSP00000393336:Q316E;ENSP00000421014:Q316E;ENSP00000423156:Q316E;ENSP00000421728:Q316E	ENSP00000253144:Q316E	Q	+	1	0	ZNF331	58772572	0.000000	0.05858	0.995000	0.50966	0.594000	0.36715	-2.300000	0.01138	2.179000	0.69175	0.655000	0.94253	CAG		0.478	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		21	73	0	0	0	1	0	21	73				
SNX19	399979	broad.mit.edu	37	11	130781546	130781546	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:130781546G>C	ENST00000265909.4	-	2	2364	c.1795C>G	c.(1795-1797)Cta>Gta	p.L599V	SNX19_ENST00000539184.1_Missense_Mutation_p.L42V|SNX19_ENST00000530356.1_De_novo_Start_OutOfFrame|SNX19_ENST00000528555.1_De_novo_Start_OutOfFrame|SNX19_ENST00000533214.1_Missense_Mutation_p.L599V|SNX19_ENST00000545537.1_5'Flank|SNX19_ENST00000533318.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	599	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AACTTTCGTAGATCTGGTTTC	0.547																																						ENST00000530356.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35								sorting nexin 19							122.0	119.0	120.0					11																	130781546		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130781546G>C	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1795C>G	11.37:g.130781546G>C	ENSP00000265909:p.Leu599Val					SNX19_ENST00000539184.1_Missense_Mutation_p.L42V|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000265909.4_Missense_Mutation_p.L599V|SNX19_ENST00000528555.1_De_novo_Start_OutOfFrame|SNX19_ENST00000533214.1_Missense_Mutation_p.L599V				Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	0	348	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)						E9PKB9|Q8IV55	Translation_Start_Site	SNP	ENST00000265909.4	37		CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541679	0.65198	.	.	ENSG00000120451	ENST00000265909;ENST00000539184;ENST00000533214	T;T;T	0.29917	1.55;1.55;1.55	5.53	5.53	0.82687	Phox homologous domain (5);	0.070853	0.64402	D	0.000020	T	0.38639	0.1048	L	0.38531	1.155	0.80722	D	1	P;P;P	0.52061	0.778;0.95;0.924	B;P;P	0.56823	0.396;0.642;0.807	T	0.03750	-1.1007	10	0.38643	T	0.18	-13.8946	12.7565	0.57339	0.0746:0.0:0.9254:0.0	.	42;599;599	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	V	599;42;599	ENSP00000265909:L599V;ENSP00000443480:L42V;ENSP00000435390:L599V	ENSP00000265909:L599V	L	-	1	2	SNX19	130286756	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.766000	0.55280	2.607000	0.88179	0.655000	0.94253	CTA		0.547	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		4	46	0	0	0	1	0	4	46				
ABHD6	57406	broad.mit.edu	37	3	58270845	58270845	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:58270845C>T	ENST00000478253.1	+	8	1216	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	ABHD6_ENST00000295962.4_Missense_Mutation_p.H239Y			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	239					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CCGCATCCCTCATAACAACTT	0.433																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(715-717)Cat>Tat		abhydrolase domain containing 6							133.0	114.0	120.0					3																	58270845		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58270845C>T	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.715C>T	3.37:g.58270845C>T	ENSP00000420315:p.His239Tyr					ABHD6_ENST00000295962.4_Missense_Mutation_p.H239Y	p.H239Y			Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	8	1216	+			239					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.715C>T	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645185	0.47258	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	T;T	0.75938	-0.98;-0.98	5.66	4.76	0.60689	.	0.044001	0.85682	D	0.000000	T	0.68851	0.3046	L	0.46157	1.445	0.47214	D	0.999358	B;B	0.31351	0.316;0.32	B;B	0.29862	0.107;0.108	T	0.71481	-0.4580	10	0.62326	D	0.03	-5.9998	15.653	0.77112	0.1379:0.8621:0.0:0.0	.	239;239	Q9BV23;F5H7L1	ABHD6_HUMAN;.	Y	239	ENSP00000420315:H239Y;ENSP00000295962:H239Y	ENSP00000295962:H239Y	H	+	1	0	ABHD6	58245885	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.615000	0.54167	2.666000	0.90696	0.655000	0.94253	CAT		0.433	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		7	68	0	0	0	1	0	7	68				
PORCN	64840	broad.mit.edu	37	X	48368320	48368320	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrX:48368320G>A	ENST00000326194.6	+	1	155	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	PORCN_ENST00000367574.4_5'UTR|PORCN_ENST00000359882.4_Missense_Mutation_p.A38T|AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000355961.4_Missense_Mutation_p.A38T|PORCN_ENST00000537758.1_Missense_Mutation_p.A38T|PORCN_ENST00000486272.1_3'UTR|PORCN_ENST00000355092.3_Missense_Mutation_p.A38T|PORCN_ENST00000361988.3_Missense_Mutation_p.A38T	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	38	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCTGCCTCGCCTGCCGCCT	0.597																																						ENST00000359882.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(112-114)Gcc>Acc		porcupine homolog (Drosophila)							46.0	41.0	43.0					X																	48368320		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48368320G>A	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.112G>A	X.37:g.48368320G>A	ENSP00000322304:p.Ala38Thr					PORCN_ENST00000355092.3_Missense_Mutation_p.A38T|PORCN_ENST00000537758.1_Missense_Mutation_p.A38T|PORCN_ENST00000361988.3_Missense_Mutation_p.A38T|PORCN_ENST00000326194.6_Missense_Mutation_p.A38T|PORCN_ENST00000355961.4_Missense_Mutation_p.A38T|PORCN_ENST00000367574.4_5'UTR|PORCN_ENST00000486272.1_3'UTR	p.A38T			Q9H237	PORCN_HUMAN			2	291	+			38			Leu-rich.		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.112G>A	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338188	0.41398	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000355961;ENST00000489940;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D	0.97688	-3.49;-4.49;-3.49;-2.38;-3.49;-4.49;-3.49	5.44	2.25	0.28309	.	0.486738	0.21687	N	0.070625	D	0.90988	0.7166	N	0.12746	0.255	0.80722	D	1	B;B;B;B;B	0.31817	0.004;0.005;0.004;0.004;0.341	B;B;B;B;B	0.19148	0.007;0.003;0.004;0.007;0.024	D	0.85912	0.1441	10	0.23891	T	0.37	-4.0195	9.0523	0.36383	0.3054:0.0:0.6946:0.0	.	38;38;38;38;38	Q9H237-3;Q9H237;Q9H237-4;Q9H237-2;C9JWI5	.;PORCN_HUMAN;.;.;.	T	38	ENSP00000352946:A38T;ENSP00000446401:A38T;ENSP00000348233:A38T;ENSP00000419212:A38T;ENSP00000354978:A38T;ENSP00000322304:A38T;ENSP00000347207:A38T	ENSP00000322304:A38T	A	+	1	0	PORCN	48253264	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.505000	0.35736	0.497000	0.27926	0.529000	0.55759	GCC		0.597	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		15	13	0	0	0	1	0	15	13				
CPT2	1376	broad.mit.edu	37	1	53676293	53676293	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:53676293G>A	ENST00000371486.3	+	4	1462	c.947G>A	c.(946-948)aGg>aAg	p.R316K	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	316					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GAGAGCCTGAGGAAAGTGGAC	0.547																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(946-948)aGg>aAg		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						88.0	82.0	84.0					1																	53676293		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676293G>A	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.947G>A	1.37:g.53676293G>A	ENSP00000360541:p.Arg316Lys					RP5-1024G6.2_ENST00000452466.1_RNA	p.R316K	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	1462	+			316					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.947G>A	CCDS575.1	.	.	.	.	.	.	.	.	.	.	G	9.073	0.997404	0.19043	.	.	ENSG00000157184	ENST00000371486	D	0.88975	-2.45	5.51	3.62	0.41486	.	0.596169	0.18989	N	0.125642	T	0.76227	0.3958	N	0.17278	0.47	0.19575	N	0.999969	B	0.02656	0.0	B	0.09377	0.004	T	0.58103	-0.7695	10	0.12766	T	0.61	-9.9586	7.0312	0.24969	0.2083:0.1242:0.6675:0.0	.	316	P23786	CPT2_HUMAN	K	316	ENSP00000360541:R316K	ENSP00000360541:R316K	R	+	2	0	CPT2	53448881	0.752000	0.28338	0.996000	0.52242	0.958000	0.62258	1.148000	0.31614	0.670000	0.31165	0.655000	0.94253	AGG		0.547	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		28	90	0	0	0	1	0	28	90				
TRPC3	7222	broad.mit.edu	37	4	122828590	122828590	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:122828590G>C	ENST00000379645.3	-	7	1998	c.1925C>G	c.(1924-1926)tCt>tGt	p.S642C	TRPC3_ENST00000264811.5_Missense_Mutation_p.S569C|TRPC3_ENST00000513531.1_Missense_Mutation_p.S514C	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	557					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCTTCCAAGAGAGATCTGCAG	0.418																																						ENST00000264811.5																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1705-1707)tCt>tGt		transient receptor potential cation channel, subfamily C, member 3							144.0	145.0	144.0					4																	122828590		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122828590G>C	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1925C>G	4.37:g.122828590G>C	ENSP00000368966:p.Ser642Cys					TRPC3_ENST00000513531.1_Missense_Mutation_p.S514C|TRPC3_ENST00000379645.3_Missense_Mutation_p.S642C	p.S569C	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			6	2124	-			557					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.1706C>G	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753535	0.89753	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.98822	-5.16;-5.16;-5.16	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.98438	1.0585	10	0.87932	D	0	-16.6308	19.4029	0.94637	0.0:0.0:1.0:0.0	.	557;514;642	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	C	569;642;514	ENSP00000264811:S569C;ENSP00000368966:S642C;ENSP00000426899:S514C	ENSP00000264811:S569C	S	-	2	0	TRPC3	123048040	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.753000	0.98904	2.571000	0.86741	0.655000	0.94253	TCT		0.418	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		5	162	0	0	0	1	0	5	162				
FAT1	2195	broad.mit.edu	37	4	187521167	187521167	+	Silent	SNP	A	A	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:187521167A>G	ENST00000441802.2	-	22	12197	c.11988T>C	c.(11986-11988)taT>taC	p.Y3996Y	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3996	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGATGTGTGCATAGCTTCTGG	0.507										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(11986-11988)taT>taC		FAT atypical cadherin 1							134.0	134.0	134.0					4																	187521167		1972	4164	6136	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521167A>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11988T>C	4.37:g.187521167A>G		HNSCC(5;0.00058)					p.Y3996Y	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			22	12197	-			3996			Laminin G-like.			Silent	SNP	ENST00000441802.2	37	c.11988T>C	CCDS47177.1																																																																																				0.507	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		26	87	0	0	0	1	0	26	87				
LRRC19	64922	broad.mit.edu	37	9	26996311	26996311	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr9:26996311G>C	ENST00000380055.5	-	4	892	c.782C>G	c.(781-783)tCa>tGa	p.S261*	LRRC19_ENST00000482770.1_5'UTR|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000429045.2_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	261						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		TATATTACCTGAATTTCTTGT	0.259																																						ENST00000380055.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)	6						c.(781-783)tCa>tGa		leucine rich repeat containing 19							59.0	64.0	62.0					9																	26996311		2203	4300	6503	SO:0001587	stop_gained	64922					integral to membrane		g.chr9:26996311G>C	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.782C>G	9.37:g.26996311G>C	ENSP00000369395:p.Ser261*					IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000380062.5_Intron|LRRC19_ENST00000482770.1_5'UTR	p.S261*	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	4	892	-		all_neural(11;1.81e-09)	261					A0AV00|B9EG91	Nonsense_Mutation	SNP	ENST00000380055.5	37	c.782C>G	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893401	0.91889	.	.	ENSG00000184434	ENST00000380055	.	.	.	5.86	5.86	0.93980	.	0.593171	0.13985	N	0.349205	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.6575	16.9076	0.86132	0.0:0.0:1.0:0.0	.	.	.	.	X	261	.	ENSP00000369395:S261X	S	-	2	0	LRRC19	26986311	1.000000	0.71417	0.973000	0.42090	0.536000	0.34869	4.912000	0.63335	2.776000	0.95493	0.650000	0.86243	TCA		0.259	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2	NM_022901		5	20	0	0	0	1	0	5	20				
DNMT3B	1789	broad.mit.edu	37	20	31387101	31387101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:31387101C>T	ENST00000328111.2	+	16	2047	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R514*|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R480*|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R568*|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000344505.4_Nonsense_Mutation_p.R556*	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	576	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCGGCCCATTCGAGTCCTGTC	0.587																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1726-1728)Cga>Tga		DNA (cytosine-5-)-methyltransferase 3 beta							71.0	60.0	64.0					20																	31387101		2203	4300	6503	SO:0001587	stop_gained	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31387101C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1726C>T	20.37:g.31387101C>T	ENSP00000328547:p.Arg576*					DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R568*|DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R480*|DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R514*|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R556*|DNMT3B_ENST00000344505.4_Nonsense_Mutation_p.R556*	p.R576*	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			16	2047	+			576					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Nonsense_Mutation	SNP	ENST00000328111.2	37	c.1726C>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	40	8.188815	0.98696	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	.	.	.	5.97	2.63	0.31362	.	0.052879	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.32	15.2937	0.73885	0.4342:0.5658:0.0:0.0	.	.	.	.	X	576;556;556;514;480;556;568	.	ENSP00000201963:R568X	R	+	1	2	DNMT3B	30850762	0.089000	0.21612	0.999000	0.59377	0.991000	0.79684	0.215000	0.17562	0.707000	0.31934	0.655000	0.94253	CGA		0.587	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		4	25	0	0	0	1	0	4	25				
MDGA2	161357	broad.mit.edu	37	14	47342716	47342716	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr14:47342716A>G	ENST00000399232.2	-	14	2829	c.2465T>C	c.(2464-2466)aTa>aCa	p.I822T	MDGA2_ENST00000357362.3_Missense_Mutation_p.I593T|MDGA2_ENST00000439988.3_Missense_Mutation_p.I891T|MDGA2_ENST00000399222.3_Missense_Mutation_p.I24T|MDGA2_ENST00000426342.1_Missense_Mutation_p.I593T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	822	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.I593R(2)|p.I891R(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTGGGAGCTATGCTGAAAAC	0.383																																						ENST00000426342.1																			3	Substitution - Missense(3)	p.I593R(2)|p.I891R(1)	kidney(3)	breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1777-1779)aTa>aCa		MAM domain containing glycosylphosphatidylinositol anchor 2							161.0	156.0	158.0					14																	47342716		1853	4107	5960	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47342716A>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2465T>C	14.37:g.47342716A>G	ENSP00000382178:p.Ile822Thr					MDGA2_ENST00000357362.3_Missense_Mutation_p.I593T|MDGA2_ENST00000439988.2_Missense_Mutation_p.I822T|MDGA2_ENST00000399222.3_Missense_Mutation_p.I24T|MDGA2_ENST00000399232.2_Missense_Mutation_p.I891T	p.I593T	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			14	2524	-			822			Ig-like 6.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1778T>C		.	.	.	.	.	.	.	.	.	.	A	14.68	2.608590	0.46527	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.02015	4.5;4.5;4.5;4.5;4.5	5.19	5.19	0.71726	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.56097	U	0.000022	T	0.01905	0.0060	N	0.12569	0.235	0.42620	D	0.993349	B;B	0.12630	0.002;0.006	B;B	0.18871	0.005;0.023	T	0.61078	-0.7135	10	0.27082	T	0.32	.	14.1626	0.65457	1.0:0.0:0.0:0.0	.	593;822	F6W3S7;Q7Z553	.;MDGA2_HUMAN	T	822;593;891;24;593	ENSP00000400011:I822T;ENSP00000405456:I593T;ENSP00000382178:I891T;ENSP00000382168:I24T;ENSP00000349925:I593T	ENSP00000349925:I593T	I	-	2	0	MDGA2	46412466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.102000	0.77005	2.078000	0.62432	0.383000	0.25322	ATA		0.383	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		25	79	0	0	0	1	0	25	79				
PBK	55872	broad.mit.edu	37	8	27678199	27678199	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr8:27678199C>T	ENST00000301905.4	-	6	941	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	PBK_ENST00000522944.1_Missense_Mutation_p.E160K	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		AGTTTCTTTTCTTGGTGCAGA	0.303																																						ENST00000301905.4																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(478-480)Gaa>Aaa		PDZ binding kinase							55.0	56.0	55.0					8																	27678199		2202	4296	6498	SO:0001583	missense	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27678199C>T	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.478G>A	8.37:g.27678199C>T	ENSP00000301905:p.Glu160Lys					PBK_ENST00000522944.1_Missense_Mutation_p.E160K	p.E160K	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	6	941	-		Ovarian(32;0.000953)	160			Protein kinase.		B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Missense_Mutation	SNP	ENST00000301905.4	37	c.478G>A	CCDS6063.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968968	0.74131	.	.	ENSG00000168078	ENST00000301905;ENST00000522944	D;D	0.86230	-1.96;-2.09	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.133611	0.64402	D	0.000002	D	0.87446	0.6179	L	0.61387	1.9	0.80722	D	1	B;B	0.23490	0.086;0.063	B;B	0.35607	0.206;0.164	T	0.82384	-0.0484	10	0.19147	T	0.46	-14.0577	17.2709	0.87102	0.0:1.0:0.0:0.0	.	160;160	B4DX68;Q96KB5	.;TOPK_HUMAN	K	160	ENSP00000301905:E160K;ENSP00000428489:E160K	ENSP00000301905:E160K	E	-	1	0	PBK	27734118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.105000	0.77031	2.736000	0.93811	0.655000	0.94253	GAA		0.303	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		7	35	0	0	0	1	0	7	35				
ERBB3	2065	broad.mit.edu	37	12	56493802	56493802	+	Missense_Mutation	SNP	C	C	T	rs200017094		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr12:56493802C>T	ENST00000267101.3	+	25	3558	c.3118C>T	c.(3118-3120)Cgg>Tgg	p.R1040W	ERBB3_ENST00000549832.1_Missense_Mutation_p.R160W|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.R397W|ERBB3_ENST00000415288.2_Missense_Mutation_p.R981W|ERBB3_ENST00000553131.1_Missense_Mutation_p.R281W	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1040					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AACACTTAATCGGCCACGTGG	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18858	0.0		0.0	False		,,,				2504	0.0					ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(3118-3120)Cgg>Tgg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							96.0	100.0	99.0					12																	56493802		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56493802C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3118C>T	12.37:g.56493802C>T	ENSP00000267101:p.Arg1040Trp					ERBB3_ENST00000415288.2_Missense_Mutation_p.R981W|ERBB3_ENST00000450146.2_Missense_Mutation_p.R397W|ERBB3_ENST00000553131.1_Missense_Mutation_p.R281W|ERBB3_ENST00000549832.1_Missense_Mutation_p.R160W	p.R1040W	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		25	3558	+			1040					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3118C>T	CCDS31833.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.59	1.391994	0.25118	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.79845	-1.17;-1.08;-1.16;-1.31;-1.05	5.65	2.73	0.32206	.	0.124955	0.36815	N	0.002397	T	0.65439	0.2691	N	0.19112	0.55	0.33054	D	0.533158	B;B;B	0.11235	0.003;0.004;0.002	B;B;B	0.08055	0.003;0.0;0.0	T	0.67612	-0.5626	10	0.87932	D	0	.	8.1991	0.31413	0.2771:0.6479:0.0:0.075	.	981;160;1040	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	W	1040;397;981;163;281;160	ENSP00000267101:R1040W;ENSP00000399178:R397W;ENSP00000408340:R981W;ENSP00000449129:R281W;ENSP00000448729:R160W	ENSP00000267101:R1040W	R	+	1	2	ERBB3	54780069	0.347000	0.24853	0.237000	0.24090	0.319000	0.28217	0.746000	0.26275	0.930000	0.37217	0.655000	0.94253	CGG		0.527	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			26	110	0	0	0	1	0	26	110				
GRIK2	2898	broad.mit.edu	37	6	102124560	102124560	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:102124560C>T	ENST00000421544.1	+	4	1094	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	GRIK2_ENST00000369134.4_Missense_Mutation_p.R153C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R202C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R202C|GRIK2_ENST00000369138.1_Missense_Mutation_p.R202C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R202C|GRIK2_ENST00000358361.3_Missense_Mutation_p.R202C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	202					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)	p.R202C(4)		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)	ACTCAAAATTCGTCAGTTACC	0.343																																						ENST00000369138.1																			4	Substitution - Missense(4)	p.R202C(4)	NS(2)|skin(2)	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.(604-606)Cgt>Tgt		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						63.0	64.0	64.0					6																	102124560		2203	4300	6503	SO:0001583	missense	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.chr6:102124560C>T		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	ENST00000421544.1:c.604C>T	6.37:g.102124560C>T	ENSP00000397026:p.Arg202Cys					GRIK2_ENST00000369134.4_Missense_Mutation_p.R153C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R202C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R202C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R202C|GRIK2_ENST00000358361.3_Missense_Mutation_p.R202C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R202C	p.R202C	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)	4	1094	+		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)	202					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.604C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029779	0.93518	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.64	5.64	0.86602	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.64931	-0.6291	10	0.87932	D	0	.	19.766	0.96342	0.0:1.0:0.0:0.0	.	202;202;202	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	C	202;202;202;202;202;202;202;153;164	ENSP00000397026:R202C;ENSP00000405596:R202C;ENSP00000358134:R202C;ENSP00000351128:R202C;ENSP00000358133:R202C;ENSP00000313276:R202C;ENSP00000358130:R153C	ENSP00000313276:R202C	R	+	1	0	GRIK2	102231253	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	7.814000	0.86154	2.694000	0.91930	0.580000	0.79431	CGT		0.343	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			7	26	0	0	0	1	0	7	26				
HAS2	3037	broad.mit.edu	37	8	122629412	122629412	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr8:122629412G>A	ENST00000303924.4	-	3	1199	c.662C>T	c.(661-663)tCa>tTa	p.S221L		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	221					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTCCACAGATGAGGCTGGGTC	0.398																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(661-663)tCa>tTa		hyaluronan synthase 2							133.0	123.0	127.0					8																	122629412		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122629412G>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.662C>T	8.37:g.122629412G>A	ENSP00000306991:p.Ser221Leu						p.S221L	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	1199	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		221					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.662C>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062826	0.76187	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.58210	0.35	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	L	0.41492	1.28	0.80722	D	1	P	0.36183	0.542	B	0.36030	0.216	T	0.53961	-0.8364	10	0.72032	D	0.01	-8.4134	19.3687	0.94475	0.0:0.0:1.0:0.0	.	221	Q92819	HAS2_HUMAN	L	221	ENSP00000306991:S221L	ENSP00000306991:S221L	S	-	2	0	HAS2	122698593	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.293000	0.59037	2.573000	0.86826	0.561000	0.74099	TCA		0.398	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		11	32	0	0	0	1	0	11	32				
PPIP5K2	23262	broad.mit.edu	37	5	102482338	102482338	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:102482338T>C	ENST00000358359.3	+	6	1104	c.595T>C	c.(595-597)Tat>Cat	p.Y199H	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.Y199H|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.Y199H	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	199					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGTTTACATTTATTACCCAAC	0.368																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(595-597)Tat>Cat		diphosphoinositol pentakisphosphate kinase 2							113.0	114.0	114.0					5																	102482338		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102482338T>C	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.595T>C	5.37:g.102482338T>C	ENSP00000351126:p.Tyr199His					PPIP5K2_ENST00000358359.3_Missense_Mutation_p.Y199H|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.Y199H|PPIP5K2_ENST00000513500.1_3'UTR	p.Y199H			O43314	VIP2_HUMAN			6	1168	+			199					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.595T>C		.	.	.	.	.	.	.	.	.	.	T	25.5	4.643360	0.87859	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	T;T;T	0.42513	1.02;0.97;1.02	5.2	5.2	0.72013	.	0.292994	0.28989	N	0.013491	T	0.73992	0.3658	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.992	T	0.82412	-0.0470	10	0.87932	D	0	.	15.3392	0.74282	0.0:0.0:0.0:1.0	.	121;199;199	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	H	199;121;199;199;199;129	ENSP00000313070:Y199H;ENSP00000351126:Y199H;ENSP00000416016:Y199H	ENSP00000313070:Y199H	Y	+	1	0	PPIP5K2	102510237	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.647000	0.83462	2.091000	0.63221	0.519000	0.50382	TAT		0.368	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		6	49	0	0	0	1	0	6	49				
EPB41L5	57669	broad.mit.edu	37	2	120932482	120932482	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:120932482G>A	ENST00000263713.5	+	25	2415	c.2201G>A	c.(2200-2202)tGa>tAa	p.*734*	EPB41L5_ENST00000452780.1_Silent_p.*733*|AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000443902.2_3'UTR	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	0					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ACTGAGCTCTGAGGGCCTGTA	0.488																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(2200-2202)tGa>tAa		erythrocyte membrane protein band 4.1 like 5							182.0	181.0	181.0					2																	120932482		2203	4300	6503	SO:0001819	synonymous_variant	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120932482G>A	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.2201G>A	2.37:g.120932482G>A						EPB41L5_ENST00000452780.1_Silent_p.*733*|AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000443902.2_3'UTR	p.*734*	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			25	2415	+			0					Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	37	c.2201G>A	CCDS2130.1																																																																																				0.488	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		28	93	0	0	0	1	0	28	93				
RARG	5916	broad.mit.edu	37	12	53607396	53607396	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr12:53607396T>C	ENST00000425354.2	-	8	1389	c.902A>G	c.(901-903)aAt>aGt	p.N301S	RARG_ENST00000543726.1_Missense_Mutation_p.N279S|RARG_ENST00000327550.3_Missense_Mutation_p.N229S|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.N301S|RARG_ENST00000338561.5_Missense_Mutation_p.N290S	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	301	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GAAGCCGGCATTGTGCATCTG	0.622											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(901-903)aAt>aGt		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						92.0	81.0	85.0					12																	53607396		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607396T>C	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.902A>G	12.37:g.53607396T>C	ENSP00000388510:p.Asn301Ser		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000394426.1_Missense_Mutation_p.N301S|RARG_ENST00000338561.5_Missense_Mutation_p.N290S|RARG_ENST00000327550.3_Missense_Mutation_p.N229S|RARG_ENST00000543726.1_Missense_Mutation_p.N279S|RARG_ENST00000543762.1_5'UTR	p.N301S	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			8	1389	-			301			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.902A>G	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216403	0.79352	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99	5.21	5.21	0.72293	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95918	0.8671	L	0.28776	0.89	0.80722	D	1	P;D;D;P	0.89917	0.894;0.993;1.0;0.947	P;D;D;P	0.78314	0.488;0.977;0.991;0.594	D	0.93976	0.7254	10	0.15066	T	0.55	.	14.3791	0.66900	0.0:0.0:0.0:1.0	.	338;279;301;290	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	S	301;301;63;229;290;279;338	ENSP00000388510:N301S;ENSP00000377947:N301S;ENSP00000332695:N229S;ENSP00000343698:N290S;ENSP00000444335:N279S	ENSP00000332695:N229S	N	-	2	0	RARG	51893663	1.000000	0.71417	0.973000	0.42090	0.871000	0.50021	8.040000	0.89188	2.103000	0.63969	0.383000	0.25322	AAT		0.622	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		21	65	0	0	0	1	0	21	65				
NOL4	8715	broad.mit.edu	37	18	31523073	31523073	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:31523073C>T	ENST00000261592.5	-	9	1795	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	NOL4_ENST00000535384.1_Missense_Mutation_p.E215K|NOL4_ENST00000538587.1_Missense_Mutation_p.E426K|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535475.1_Missense_Mutation_p.E281K|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	500						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.E500*(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTTCTACTCTCACTCTCACAA	0.428																																						ENST00000261592.5																			1	Substitution - Nonsense(1)	p.E500*(1)	lung(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1498-1500)Gag>Aag		nucleolar protein 4							103.0	93.0	96.0					18																	31523073		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31523073C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1498G>A	18.37:g.31523073C>T	ENSP00000261592:p.Glu500Lys					NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.E426K|NOL4_ENST00000535384.1_Missense_Mutation_p.E215K|NOL4_ENST00000535475.1_Missense_Mutation_p.E281K|NOL4_ENST00000589544.1_Intron	p.E500K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			9	1795	-			500					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1498G>A	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	33	5.241964	0.95272	.	.	ENSG00000101746	ENST00000261592;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.69358	2.11	0.24039	N	0.996089	D;D;D;D;D;D	0.76494	0.996;0.994;0.999;0.998;0.994;0.996	D;P;D;D;P;D	0.77557	0.987;0.904;0.972;0.99;0.904;0.968	T	0.66340	-0.5948	9	0.72032	D	0.01	-21.2761	20.2049	0.98273	0.0:1.0:0.0:0.0	.	185;215;426;500;215;281	F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;B3KRF4	.;.;.;NOL4_HUMAN;.;.	K	500;185;215;281;426	.	ENSP00000261592:E500K	E	-	1	0	NOL4	29777071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.830000	0.75319	2.772000	0.95346	0.650000	0.86243	GAG		0.428	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		14	52	0	0	0	1	0	14	52				
AMOTL1	154810	broad.mit.edu	37	11	94592733	94592733	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:94592733C>T	ENST00000433060.2	+	9	2129	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.A613V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	663					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GAATACAATGCCCCAGCCCTC	0.527																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(1987-1989)gCc>gTc		angiomotin like 1							48.0	52.0	50.0					11																	94592733		2195	4298	6493	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94592733C>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1988C>T	11.37:g.94592733C>T	ENSP00000387739:p.Ala663Val					AMOTL1_ENST00000317829.8_Missense_Mutation_p.A613V|AMOTL1_ENST00000317837.9_Intron	p.A663V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			9	2129	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	663					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.1988C>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345412	0.41498	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.19532	2.15;2.14	6.08	6.08	0.98989	Angiomotin, C-terminal (1);	0.071510	0.64402	D	0.000017	T	0.21227	0.0511	L	0.37800	1.135	0.80722	D	1	B;B	0.15473	0.013;0.01	B;B	0.29176	0.099;0.034	T	0.02789	-1.1110	10	0.33141	T	0.24	-21.4495	14.7703	0.69671	0.0:0.9316:0.0:0.0684	.	613;663	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	V	613;663	ENSP00000320968:A613V;ENSP00000387739:A663V	ENSP00000320968:A613V	A	+	2	0	AMOTL1	94232381	1.000000	0.71417	0.664000	0.29753	0.352000	0.29268	4.736000	0.62059	2.894000	0.99253	0.655000	0.94253	GCC		0.527	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		5	21	0	0	0	1	0	5	21				
NEUROD1	4760	broad.mit.edu	37	2	182542615	182542615	+	Missense_Mutation	SNP	G	G	A	rs368727469		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:182542615G>A	ENST00000295108.3	-	2	1430	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	325					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R325C(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCTCGCAGCGAGGGGCAGCG	0.498																																						ENST00000295108.3																			1	Substitution - Missense(1)	p.R325C(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(973-975)Cgc>Tgc		neuronal differentiation 1							91.0	93.0	92.0					2																	182542615		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542615G>A	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.973C>T	2.37:g.182542615G>A	ENSP00000295108:p.Arg325Cys					NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.R325C	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1430	-			325					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.973C>T	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970789	0.34754	.	.	ENSG00000162992	ENST00000295108	D	0.96619	-4.07	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.94758	0.8308	M	0.75615	2.305	0.80722	D	1	P	0.38078	0.617	B	0.29176	0.099	D	0.94871	0.8030	10	0.87932	D	0	-26.6447	15.013	0.71562	0.0699:0.0:0.9301:0.0	.	325	Q13562	NDF1_HUMAN	C	325	ENSP00000295108:R325C	ENSP00000295108:R325C	R	-	1	0	NEUROD1	182250860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.835000	0.48175	2.693000	0.91896	0.650000	0.86243	CGC		0.498	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		12	82	0	0	0	1	0	12	82				
HSPG2	3339	broad.mit.edu	37	1	22167727	22167727	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:22167727C>T	ENST00000374695.3	-	71	9459	c.9380G>A	c.(9379-9381)gGa>gAa	p.G3127E		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3127	Ig-like C2-type 17.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GACAGCCTTTCCCACTTTCAC	0.652																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(9379-9381)gGa>gAa		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						48.0	51.0	50.0					1																	22167727		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22167727C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9380G>A	1.37:g.22167727C>T	ENSP00000363827:p.Gly3127Glu						p.G3127E	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	71	9459	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3127			Ig-like C2-type 17.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.9380G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237701	0.79800	.	.	ENSG00000142798	ENST00000374695	T	0.80653	-1.4	4.74	4.74	0.60224	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39615	N	0.001310	D	0.91576	0.7339	M	0.91972	3.26	0.50039	D	0.999842	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93137	0.6538	10	0.62326	D	0.03	.	16.4487	0.83972	0.0:1.0:0.0:0.0	.	1067;3127	Q59EG0;P98160	.;PGBM_HUMAN	E	3127	ENSP00000363827:G3127E	ENSP00000363827:G3127E	G	-	2	0	HSPG2	22040314	0.999000	0.42202	0.122000	0.21767	0.927000	0.56198	5.009000	0.63998	2.467000	0.83353	0.561000	0.74099	GGA		0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		14	74	0	0	0	1	0	14	74				
EIF3B	8662	broad.mit.edu	37	7	2409171	2409171	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:2409171C>G	ENST00000360876.4	+	10	1524	c.1468C>G	c.(1468-1470)Cca>Gca	p.P490A	EIF3B_ENST00000397011.2_Missense_Mutation_p.P490A	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CAAAGATATTCCAGCCAGGGT	0.483																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1468-1470)Cca>Gca		eukaryotic translation initiation factor 3, subunit B							186.0	189.0	188.0					7																	2409171		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2409171C>G	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1468C>G	7.37:g.2409171C>G	ENSP00000354125:p.Pro490Ala					EIF3B_ENST00000397011.2_Missense_Mutation_p.P490A	p.P490A	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	10	1524	+		Ovarian(82;0.0253)	490						Missense_Mutation	SNP	ENST00000360876.4	37	c.1468C>G	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952979	0.73902	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.08102	3.13;3.13	5.77	4.88	0.63580	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	M	0.82193	2.58	0.80722	D	1	D	0.64830	0.994	P	0.62813	0.907	T	0.19811	-1.0294	10	0.87932	D	0	-17.1332	16.5655	0.84588	0.1315:0.8685:0.0:0.0	.	490	P55884	EIF3B_HUMAN	A	490;490;490;414	ENSP00000354125:P490A;ENSP00000380206:P490A	ENSP00000316638:P490A	P	+	1	0	EIF3B	2375697	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.581000	0.82535	1.561000	0.49584	0.655000	0.94253	CCA		0.483	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			48	157	0	0	0	1	0	48	157				
AHNAK2	113146	broad.mit.edu	37	14	105410651	105410651	+	Missense_Mutation	SNP	C	C	T	rs371645188	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr14:105410651C>T	ENST00000333244.5	-	7	11256	c.11137G>A	c.(11137-11139)Gag>Aag	p.E3713K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3713						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGGCTCCCTCGGGCACCTGG	0.632													.|||	19	0.00379393	0.0	0.0	5008	,	,		16434	0.0		0.0	False		,,,				2504	0.0194					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11137-11139)Gag>Aag		AHNAK nucleoprotein 2		C	LYS/GLU	1,3691		0,1,1845	108.0	116.0	113.0		11137	1.1	0.0	14		113	1,8179		0,1,4089	no	missense	AHNAK2	NM_138420.2	56	0,2,5934	TT,TC,CC		0.0122,0.0271,0.0168	benign	3713/5796	105410651	2,11870	1846	4090	5936	SO:0001583	missense	113146					nucleus		g.chr14:105410651C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11137G>A	14.37:g.105410651C>T	ENSP00000353114:p.Glu3713Lys					AHNAK2_ENST00000557457.1_Intron	p.E3713K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11256	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3713					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11137G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	15.39	2.820433	0.50633	2.71E-4	1.22E-4	ENSG00000185567	ENST00000333244	T	0.00949	5.51	4.1	1.12	0.20585	.	.	.	.	.	T	0.01189	0.0039	M	0.77616	2.38	0.09310	N	1	B	0.30542	0.284	B	0.25506	0.061	T	0.48210	-0.9055	9	0.07990	T	0.79	.	4.7356	0.12986	0.0:0.5644:0.1581:0.2775	.	3713	Q8IVF2	AHNK2_HUMAN	K	3713	ENSP00000353114:E3713K	ENSP00000353114:E3713K	E	-	1	0	AHNAK2	104481696	0.001000	0.12720	0.000000	0.03702	0.115000	0.19883	1.111000	0.31159	-0.071000	0.12886	0.485000	0.47835	GAG		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		59	221	0	0	0	1	0	59	221				
PNKP	11284	broad.mit.edu	37	19	50367447	50367447	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:50367447C>T	ENST00000322344.3	-	6	734	c.625G>A	c.(625-627)Gag>Aag	p.E209K	PNKP_ENST00000595792.1_5'Flank|PNKP_ENST00000600910.1_Missense_Mutation_p.E209K|PNKP_ENST00000600573.1_Missense_Mutation_p.E209K|PNKP_ENST00000596014.1_Missense_Mutation_p.E209K	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	209	Phosphatase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TTGTAGCCCTCGGCTTCCAGC	0.642								Other BER factors																														ENST00000322344.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(625-627)Gag>Aag	Other BER factors	polynucleotide kinase 3'-phosphatase							44.0	48.0	47.0					19																	50367447		2203	4300	6503	SO:0001583	missense	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50367447C>T	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.625G>A	19.37:g.50367447C>T	ENSP00000323511:p.Glu209Lys					PNKP_ENST00000596014.1_Missense_Mutation_p.E209K|PNKP_ENST00000600910.1_Missense_Mutation_p.E209K|PNKP_ENST00000600573.1_Missense_Mutation_p.E209K	p.E209K	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	6	734	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	209					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	c.625G>A	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	C	8.387	0.838901	0.16891	.	.	ENSG00000039650	ENST00000322344	T	0.64438	-0.1	5.69	1.07	0.20283	HAD-like domain (2);Polynucleotide kinase 3 phosphatase, central region (1);	0.729361	0.13339	N	0.395275	T	0.33614	0.0869	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.16600	-1.0397	10	0.31617	T	0.26	-15.5444	5.5311	0.16985	0.0:0.6134:0.1426:0.244	.	170;209	Q9BUL2;Q96T60	.;PNKP_HUMAN	K	209	ENSP00000323511:E209K	ENSP00000323511:E209K	E	-	1	0	PNKP	55059259	0.010000	0.17322	0.002000	0.10522	0.147000	0.21601	0.679000	0.25291	0.327000	0.23409	-0.137000	0.14449	GAG		0.642	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		32	45	0	0	0	1	0	32	45				
WBSCR17	64409	broad.mit.edu	37	7	71135092	71135092	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:71135092G>A	ENST00000333538.5	+	8	2036	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	468	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				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)			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)				TGCTTACGGGGAGGTAATTCA	0.413																																						ENST00000333538.5																			0				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.(1402-1404)Gag>Aag		Williams-Beuren syndrome chromosome region 17							207.0	201.0	203.0					7																	71135092		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71135092G>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.1402G>A	7.37:g.71135092G>A	ENSP00000329654:p.Glu468Lys					WBSCR17_ENST00000498380.2_3'UTR	p.E468K	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			8	2036	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	468			Ricin B-type lectin.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1402G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925459	0.73213	.	.	ENSG00000185274	ENST00000333538	T	0.29655	1.56	5.04	4.15	0.48705	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	M	0.73217	2.22	0.51482	D	0.999929	D	0.64830	0.994	D	0.65140	0.932	T	0.38887	-0.9640	10	0.40728	T	0.16	.	8.0719	0.30693	0.0821:0.0:0.7637:0.1542	.	468	Q6IS24	GLTL3_HUMAN	K	468	ENSP00000329654:E468K	ENSP00000329654:E468K	E	+	1	0	WBSCR17	70773028	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.871000	0.87180	2.346000	0.79739	0.591000	0.81541	GAG		0.413	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		8	186	0	0	0	1	0	8	186				
FRZB	2487	broad.mit.edu	37	2	183731003	183731003	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:183731003G>A	ENST00000295113.4	-	1	887	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	93	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GCAGATGGGCGCGTACATGGC	0.607																																						ENST00000295113.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(277-279)gCg>gTg		frizzled-related protein							87.0	77.0	80.0					2																	183731003		2203	4300	6503	SO:0001583	missense	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183731003G>A	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.278C>T	2.37:g.183731003G>A	ENSP00000295113:p.Ala93Val						p.A93V	NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		1	887	-			93			FZ.		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	c.278C>T	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715624	0.68844	.	.	ENSG00000162998	ENST00000295113	T	0.75821	-0.97	4.78	4.78	0.61160	Frizzled domain (5);	0.057338	0.64402	D	0.000002	T	0.61476	0.2350	L	0.39898	1.24	0.80722	D	1	D	0.54964	0.969	B	0.35114	0.196	T	0.67825	-0.5570	10	0.49607	T	0.09	.	13.4314	0.61057	0.0783:0.0:0.9217:0.0	.	93	Q92765	SFRP3_HUMAN	V	93	ENSP00000295113:A93V	ENSP00000295113:A93V	A	-	2	0	FRZB	183439248	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.633000	0.83260	2.461000	0.83175	0.462000	0.41574	GCG		0.607	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		33	42	0	0	0	1	0	33	42				
PIBF1	10464	broad.mit.edu	37	13	73401164	73401164	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr13:73401164G>A	ENST00000326291.6	+	7	1161	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	275						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TGATGCACTTGAACAGGAAGT	0.338																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(823-825)Gaa>Aaa		progesterone immunomodulatory binding factor 1							82.0	84.0	83.0					13																	73401164		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73401164G>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.823G>A	13.37:g.73401164G>A	ENSP00000317144:p.Glu275Lys						p.E275K	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	7	1161	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	275					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.823G>A	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677430	0.88445	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.30714	1.52	5.98	5.98	0.97165	.	0.044314	0.85682	D	0.000000	T	0.57592	0.2064	M	0.72118	2.19	0.58432	D	0.999996	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.49263	-0.8958	10	0.38643	T	0.18	-16.075	20.452	0.99131	0.0:0.0:1.0:0.0	.	275;275	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	K	275	ENSP00000317144:E275K	ENSP00000317144:E275K	E	+	1	0	PIBF1	72299165	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.656000	0.83736	2.838000	0.97847	0.591000	0.81541	GAA		0.338	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		4	46	0	0	0	1	0	4	46				
JMJD1C	221037	broad.mit.edu	37	10	64966452	64966452	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:64966452C>G	ENST00000399262.2	-	10	5195	c.4977G>C	c.(4975-4977)aaG>aaC	p.K1659N	JMJD1C_ENST00000399251.1_Missense_Mutation_p.K1440N|JMJD1C_ENST00000542921.1_Missense_Mutation_p.K1477N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K1440N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1659					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CACCTTTTCTCTTTTGCAAAT	0.373																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4975-4977)aaG>aaC		jumonji domain containing 1C							171.0	150.0	156.0					10																	64966452		1830	4092	5922	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64966452C>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4977G>C	10.37:g.64966452C>G	ENSP00000382204:p.Lys1659Asn					JMJD1C_ENST00000542921.1_Missense_Mutation_p.K1477N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.K1440N|JMJD1C_ENST00000399251.1_Missense_Mutation_p.K1440N	p.K1659N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	5195	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1659					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.4977G>C	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.68|13.68	2.308573|2.308573	0.40895|0.40895	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921|ENST00000327520	T;T;T;T|.	0.57595|.	0.74;0.39;1.89;0.74|.	5.92|5.92	2.08|2.08	0.27032|0.27032	.|.	0.147912|.	0.56097|.	D|.	0.000022|.	T|T	0.58666|0.58666	0.2138|0.2138	L|L	0.55481|0.55481	1.735|1.735	0.35962|0.35962	D|D	0.83468|0.83468	D;D;D|.	0.65815|.	0.995;0.986;0.995|.	P;P;P|.	0.58928|.	0.848;0.776;0.848|.	T|T	0.60652|0.60652	-0.7221|-0.7221	10|5	0.87932|.	D|.	0|.	-5.3171|-5.3171	10.3255|10.3255	0.43790|0.43790	0.0:0.6756:0.0:0.3244|0.0:0.6756:0.0:0.3244	.|.	1200;1659;1477|.	A6PW35;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	N|T	1659;1440;1440;1477|345	ENSP00000382204:K1659N;ENSP00000384990:K1440N;ENSP00000382195:K1440N;ENSP00000444682:K1477N|.	ENSP00000382195:K1440N|.	K|R	-|-	3|2	2|0	JMJD1C|JMJD1C	64636458|64636458	0.893000|0.893000	0.30496|0.30496	0.996000|0.996000	0.52242|0.52242	0.981000|0.981000	0.71138|0.71138	0.068000|0.068000	0.14531|0.14531	0.129000|0.129000	0.18514|0.18514	0.585000|0.585000	0.79938|0.79938	AAG|AGA		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		19	49	0	0	0	1	0	19	49				
PIAS2	9063	broad.mit.edu	37	18	44424064	44424064	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:44424064C>G	ENST00000585916.1	-	8	993	c.994G>C	c.(994-996)Gat>Cat	p.D332H	PIAS2_ENST00000545673.1_Missense_Mutation_p.D42H|PIAS2_ENST00000324794.7_Missense_Mutation_p.D332H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	332					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ATTTCACTATCAGGATCTGCA	0.279																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(994-996)Gat>Cat		protein inhibitor of activated STAT, 2							92.0	98.0	96.0					18																	44424064		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44424064C>G	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.994G>C	18.37:g.44424064C>G	ENSP00000465676:p.Asp332His					PIAS2_ENST00000545673.1_Missense_Mutation_p.D42H|PIAS2_ENST00000324794.7_Missense_Mutation_p.D332H	p.D332H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			8	993	-			332					O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.994G>C	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891054	0.91889	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000545673;ENST00000324794	T;T	0.64803	-0.12;0.36	5.66	5.66	0.87406	Zinc finger, MIZ-type (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.85130	0.98;0.997;0.98;0.991;0.988	T	0.82973	-0.0191	10	0.87932	D	0	-13.7389	20.1115	0.97913	0.0:1.0:0.0:0.0	.	42;336;332;332;332	B4DGW0;O75928-3;Q2TA77;O75928-2;O75928	.;.;.;.;PIAS2_HUMAN	H	332;332;328;42;332	ENSP00000443238:D42H;ENSP00000317163:D332H	ENSP00000262161:D332H	D	-	1	0	PIAS2	42678062	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.442000	0.80503	2.814000	0.96858	0.655000	0.94253	GAT		0.279	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		20	69	0	0	0	1	0	20	69				
GPR112	139378	broad.mit.edu	37	X	135496474	135496474	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrX:135496474A>C	ENST00000394143.1	+	25	9484	c.9193A>C	c.(9193-9195)Agc>Cgc	p.S3065R	GPR112_ENST00000412101.1_Missense_Mutation_p.S2860R|GPR112_ENST00000370652.1_Missense_Mutation_p.S3065R|GPR112_ENST00000287534.4_Missense_Mutation_p.S2784R|GPR112_ENST00000394141.1_Missense_Mutation_p.S2860R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3065					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(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCAGAAATAAGCTTTCCAAA	0.388																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(9193-9195)Agc>Cgc		G protein-coupled receptor 112							131.0	130.0	130.0					X																	135496474		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135496474A>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.9193A>C	X.37:g.135496474A>C	ENSP00000377699:p.Ser3065Arg					GPR112_ENST00000394141.1_Missense_Mutation_p.S2860R|GPR112_ENST00000287534.4_Missense_Mutation_p.S2784R|GPR112_ENST00000370652.1_Missense_Mutation_p.S3065R|GPR112_ENST00000412101.1_Missense_Mutation_p.S2860R	p.S3065R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			25	9484	+	Acute lymphoblastic leukemia(192;0.000127)		3065					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.9193A>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.739617	0.30774	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34072	1.41;1.41;1.38;1.68;1.38	5.4	2.9	0.33743	.	.	.	.	.	T	0.25680	0.0625	N	0.22421	0.69	0.09310	N	0.999992	P;B	0.35982	0.531;0.244	B;B	0.38616	0.277;0.143	T	0.12889	-1.0530	9	0.45353	T	0.12	.	7.505	0.27540	0.6492:0.0:0.0:0.3508	.	2860;3065	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	R	3065;3065;2860;2784;2860	ENSP00000377699:S3065R;ENSP00000359686:S3065R;ENSP00000416526:S2860R;ENSP00000287534:S2784R;ENSP00000377697:S2860R	ENSP00000287534:S2784R	S	+	1	0	GPR112	135324140	0.908000	0.30866	0.921000	0.36526	0.652000	0.38707	1.037000	0.30241	0.243000	0.21327	0.481000	0.45027	AGC		0.388	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			29	49	0	0	0	1	0	29	49				
DDX31	64794	broad.mit.edu	37	9	135470375	135470375	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr9:135470375C>G	ENST00000372159.3	-	20	2585	c.2434G>C	c.(2434-2436)Ggt>Cgt	p.G812R	DDX31_ENST00000438527.3_Missense_Mutation_p.G683R|DDX31_ENST00000372153.1_Missense_Mutation_p.G739R	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	812						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GGCCGGCCACCAGGCTCTCCA	0.547																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(2434-2436)Ggt>Cgt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							115.0	128.0	124.0					9																	135470375		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135470375C>G	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2434G>C	9.37:g.135470375C>G	ENSP00000361232:p.Gly812Arg					DDX31_ENST00000372153.1_Missense_Mutation_p.G739R|DDX31_ENST00000438527.3_Missense_Mutation_p.G683R	p.G812R	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	20	2585	-			812					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.2434G>C	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	9.675	1.147754	0.21288	.	.	ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527	T;T;T	0.03580	4.36;3.88;4.33	3.18	2.14	0.27477	.	3.401120	0.00678	N	0.000662	T	0.07638	0.0192	L	0.39898	1.24	0.09310	N	1	P;B	0.52061	0.95;0.002	P;B	0.49887	0.625;0.003	T	0.28996	-1.0026	10	0.52906	T	0.07	1.4556	7.0624	0.25133	0.0:0.8394:0.0:0.1606	.	739;812	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	R	812;739;683	ENSP00000361232:G812R;ENSP00000361226:G739R;ENSP00000387730:G683R	ENSP00000361226:G739R	G	-	1	0	DDX31	134460196	0.647000	0.27304	0.004000	0.12327	0.007000	0.05969	1.430000	0.34914	1.615000	0.50252	0.563000	0.77884	GGT		0.547	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		35	145	0	0	0	1	0	35	145				
UNC5B	219699	broad.mit.edu	37	10	73050782	73050782	+	Missense_Mutation	SNP	C	C	T	rs139601435		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:73050782C>T	ENST00000335350.6	+	9	1626	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C	UNC5B_ENST00000373192.4_Missense_Mutation_p.R393C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	404					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCGCAACTGCCGTGACTTCGA	0.607																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1210-1212)Cgt>Tgt		unc-5 homolog B (C. elegans)							253.0	238.0	243.0					10																	73050782		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050782C>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1210C>T	10.37:g.73050782C>T	ENSP00000334329:p.Arg404Cys					UNC5B_ENST00000373192.4_Missense_Mutation_p.R393C	p.R404C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			9	1626	+			404					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1210C>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467707	0.63625	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.53206	0.69;0.63	5.39	3.51	0.40186	.	0.165234	0.56097	D	0.000035	T	0.65491	0.2696	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66300	-0.5958	10	0.72032	D	0.01	-20.5486	10.2506	0.43367	0.136:0.7934:0.0:0.0706	.	393;404	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	C	404;393	ENSP00000334329:R404C;ENSP00000362288:R393C	ENSP00000334329:R404C	R	+	1	0	UNC5B	72720788	1.000000	0.71417	0.898000	0.35279	0.223000	0.24884	5.949000	0.70257	0.635000	0.30488	-0.140000	0.14226	CGT		0.607	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		62	229	0	0	0	1	0	62	229				
KRT6A	3853	broad.mit.edu	37	12	52885413	52885413	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr12:52885413C>T	ENST00000330722.6	-	2	716	c.648G>A	c.(646-648)caG>caA	p.Q216Q		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	216	Linker 1.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTGATGTACTGCTCGAACA	0.587																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(646-648)caG>caA		keratin 6A							110.0	108.0	108.0					12																	52885413		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52885413C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.648G>A	12.37:g.52885413C>T							p.Q216Q	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	716	-			216			Linker 1.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.648G>A	CCDS41786.1																																																																																				0.587	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		4	124	0	0	0	1	0	4	124				
MUC16	94025	broad.mit.edu	37	19	9056550	9056550	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:9056550G>C	ENST00000397910.4	-	3	31099	c.30896C>G	c.(30895-30897)tCa>tGa	p.S10299*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10301	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCTGAACCTGAGATGGCTCG	0.532																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30895-30897)tCa>tGa		mucin 16, cell surface associated							106.0	107.0	106.0					19																	9056550		2072	4203	6275	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056550G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30896C>G	19.37:g.9056550G>C	ENSP00000381008:p.Ser10299*						p.S10299*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	31099	-			10301			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.30896C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	60	47.762356	0.99987	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.38	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.531	0.16985	0.2593:0.0:0.7407:0.0	.	.	.	.	X	10299	.	ENSP00000381008:S10299X	S	-	2	0	MUC16	8917550	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	1.102000	0.31050	0.424000	0.26061	-0.382000	0.06688	TCA		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	85	0	0	0	1	0	16	85				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	102	0	0	0	1	0	4	102				
POLR2L	5441	broad.mit.edu	37	11	842418	842418	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:842418C>G	ENST00000322028.4	-	1	127	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	TSPAN4_ENST00000397404.1_5'Flank|TSPAN4_ENST00000397408.1_5'Flank|TSPAN4_ENST00000397406.1_5'Flank|TSPAN4_ENST00000397396.1_5'Flank|TSPAN4_ENST00000397397.2_5'Flank|TSPAN4_ENST00000525201.1_5'Flank|TSPAN4_ENST00000397411.2_5'Flank|TSPAN4_ENST00000409543.2_5'Flank	NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	31					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		cctcaccccTCGGTGTACTCG	0.731																																						ENST00000322028.4																			0				lung(1)	1						c.(91-93)Gag>Cag		polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa							33.0	28.0	30.0					11																	842418		2190	4294	6484	SO:0001583	missense	5441				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding	g.chr11:842418C>G	U37690	CCDS7720.1	11p15	2013-01-21	2002-08-29		ENSG00000177700	ENSG00000177700		"""RNA polymerase subunits"""	9199	protein-coding gene	gene with protein product		601189	"""polymerase (RNA) II (DNA directed) polypeptide L (7.6kD)"""			8786124	Standard	NM_021128		Approved	RPB10beta, RBP10, RPABC5, RPB7.6, hRPB7.6, hsRPB10b	uc001lsc.3	P62875	OTTHUMG00000133316	ENST00000322028.4:c.91G>C	11.37:g.842418C>G	ENSP00000324124:p.Glu31Gln						p.E31Q	NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	1	127	-		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	31					P52436|Q6FHX3	Missense_Mutation	SNP	ENST00000322028.4	37	c.91G>C	CCDS7720.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215691	0.58452	.	.	ENSG00000177700	ENST00000322028	.	.	.	4.58	1.51	0.23008	Homeodomain-related (1);RNA polymerase subunit RPB10 (1);	0.185728	0.44902	D	0.000416	T	0.59878	0.2226	.	.	.	0.58432	D	0.999991	B	0.29886	0.26	B	0.40066	0.318	T	0.59516	-0.7440	8	0.62326	D	0.03	.	9.073	0.36504	0.0:0.6399:0.2807:0.0794	.	31	P62875	RPAB5_HUMAN	Q	31	.	ENSP00000324124:E31Q	E	-	1	0	POLR2L	832418	1.000000	0.71417	0.956000	0.39512	0.239000	0.25481	5.038000	0.64177	0.431000	0.26258	0.591000	0.81541	GAG		0.731	POLR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257114.1	NM_021128		7	14	0	0	0	1	0	7	14				
ERBB3	2065	broad.mit.edu	37	12	56494849	56494849	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr12:56494849C>G	ENST00000267101.3	+	27	3646	c.3206C>G	c.(3205-3207)tCt>tGt	p.S1069C	ERBB3_ENST00000549832.1_Missense_Mutation_p.S189C|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.S426C|ERBB3_ENST00000415288.2_Missense_Mutation_p.S1010C|ERBB3_ENST00000553131.1_Missense_Mutation_p.S310C	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1069					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTTAGGAGTCTGCAGTTTCT	0.463																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(3205-3207)tCt>tGt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							30.0	27.0	28.0					12																	56494849		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56494849C>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3206C>G	12.37:g.56494849C>G	ENSP00000267101:p.Ser1069Cys					ERBB3_ENST00000415288.2_Missense_Mutation_p.S1010C|ERBB3_ENST00000450146.2_Missense_Mutation_p.S426C|ERBB3_ENST00000553131.1_Missense_Mutation_p.S310C|ERBB3_ENST00000549832.1_Missense_Mutation_p.S189C	p.S1069C	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		27	3646	+			1069					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3206C>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	6.756	0.508292	0.12883	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.79033	-1.09;-1.0;-1.09;-1.23;-0.95	6.06	5.17	0.71159	.	0.291429	0.29417	N	0.012206	T	0.67896	0.2942	N	0.19112	0.55	0.36163	D	0.848251	P;P;P	0.51791	0.924;0.948;0.454	P;B;B	0.46479	0.518;0.41;0.219	T	0.73783	-0.3874	10	0.38643	T	0.18	.	11.2955	0.49276	0.0:0.9169:0.0:0.0831	.	1010;189;1069	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	C	1069;426;1010;192;310;189	ENSP00000267101:S1069C;ENSP00000399178:S426C;ENSP00000408340:S1010C;ENSP00000449129:S310C;ENSP00000448729:S189C	ENSP00000267101:S1069C	S	+	2	0	ERBB3	54781116	0.999000	0.42202	0.937000	0.37676	0.122000	0.20287	2.519000	0.45546	1.581000	0.49865	0.655000	0.94253	TCT		0.463	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			6	23	0	0	0	1	0	6	23				
PDZD3	79849	broad.mit.edu	37	11	119057090	119057090	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr11:119057090C>T	ENST00000531114.1	+	2	768	c.219C>T	c.(217-219)agC>agT	p.S73S	PDZD3_ENST00000355547.5_Intron|PDZD3_ENST00000392817.2_Silent_p.S73S|PDZD3_ENST00000322712.4_Intron|PDZD3_ENST00000525131.1_Intron			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	73					cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		AACTGCCCAGCACCCTATCAG	0.617																																						ENST00000531114.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14						c.(217-219)agC>agT		PDZ domain containing 3																																				SO:0001819	synonymous_variant	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119057090C>T	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.219C>T	11.37:g.119057090C>T						PDZD3_ENST00000525131.1_Intron|PDZD3_ENST00000392817.2_Silent_p.S73S|PDZD3_ENST00000355547.5_Intron|PDZD3_ENST00000322712.4_Intron	p.S73S			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	2	768	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	73					Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Silent	SNP	ENST00000531114.1	37	c.219C>T																																																																																					0.617	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		6	27	0	0	0	1	0	6	27				
FLNC	2318	broad.mit.edu	37	7	128496974	128496974	+	Splice_Site	SNP	C	C	T	rs527921534		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr7:128496974C>T	ENST00000325888.8	+	45	7821	c.7560C>T	c.(7558-7560)acC>acT	p.T2520T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Splice_Site_p.T2487T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2520	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGGCACTACCGGTGAGTGCC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19488	0.0		0.0	False		,,,				2504	0.0					ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.e45+1		filamin C, gamma							37.0	41.0	40.0					7																	128496974		2064	4214	6278	SO:0001630	splice_region_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128496974C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7561+1C>T	7.37:g.128496974C>T						RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Splice_Site_p.T2487_splice	p.T2520_splice	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			45	7821	+			2520			Interaction with INPPL1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Splice_Site	SNP	ENST00000325888.8	37	c.7561_splice	CCDS43644.1																																																																																				0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		Silent	10	20	0	0	0	1	0	10	20				
HIST1H4F	8361	broad.mit.edu	37	6	26240845	26240845	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:26240845G>C	ENST00000377745.2	+	1	285	c.192G>C	c.(190-192)gaG>gaC	p.E64D		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	64			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGTTCCTGGAGAATGTGATAC	0.597																																						ENST00000377745.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(190-192)gaG>gaC		histone cluster 1, H4f							86.0	75.0	79.0					6																	26240845		2203	4300	6503	SO:0001583	missense	8361				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26240845G>C	M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"""Histones / Replication-dependent"""	4783	protein-coding gene	gene with protein product		602824	"""H4 histone family, member C"", ""histone 1, H4f"""	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.192G>C	6.37:g.26240845G>C	ENSP00000366974:p.Glu64Asp						p.E64D	NM_003540.3	NP_003531.1	P62805	H4_HUMAN			1	285	+		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	64		E -> Q (in a breast cancer sample; somatic mutation).			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377745.2	37	c.192G>C	CCDS4598.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.025946	0.35701	.	.	ENSG00000198327	ENST00000377745	T	0.70986	-0.53	4.36	2.56	0.30785	.	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	.	.	.	0.33286	D	0.562924	.	.	.	.	.	.	T	0.64635	-0.6361	7	0.62326	D	0.03	.	10.0864	0.42421	0.1669:0.0:0.8331:0.0	.	.	.	.	D	64	ENSP00000366974:E64D	ENSP00000366974:E64D	E	+	3	2	HIST1H4F	26348824	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	4.423000	0.59861	0.587000	0.29643	-0.251000	0.11542	GAG		0.597	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040106.1	NM_003540		14	49	0	0	0	1	0	14	49				
PFN2	5217	broad.mit.edu	37	3	149686274	149686274	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:149686274G>C	ENST00000239940.7	-	2	448	c.196C>G	c.(196-198)Ctt>Gtt	p.L66V	PFN2_ENST00000461868.1_Missense_Mutation_p.L66V|PFN2_ENST00000489155.1_Missense_Mutation_p.L17V|PFN2_ENST00000498307.1_Missense_Mutation_p.L17V|AC117395.1_ENST00000593416.1_5'Flank|PFN2_ENST00000452853.2_Missense_Mutation_p.L66V|PFN2_ENST00000490975.1_Missense_Mutation_p.L66V|PFN2_ENST00000423691.2_Missense_Mutation_p.L66V|PFN2_ENST00000494827.1_Missense_Mutation_p.L17V|PFN2_ENST00000497148.1_Missense_Mutation_p.L17V|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000481767.1_Missense_Mutation_p.L17V|PFN2_ENST00000475518.1_Missense_Mutation_p.L17V|PFN2_ENST00000481275.1_Missense_Mutation_p.L17V			P35080	PROF2_HUMAN	profilin 2	66					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTCGCGCCAAGAGTCAAACCG	0.443																																						ENST00000239940.7																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(196-198)Ctt>Gtt		profilin 2							193.0	205.0	201.0					3																	149686274		2203	4300	6503	SO:0001583	missense	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149686274G>C	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.196C>G	3.37:g.149686274G>C	ENSP00000239940:p.Leu66Val					PFN2_ENST00000498307.1_Missense_Mutation_p.L17V|PFN2_ENST00000497148.1_Missense_Mutation_p.L17V|PFN2_ENST00000475518.1_Missense_Mutation_p.L17V|PFN2_ENST00000494827.1_Missense_Mutation_p.L17V|PFN2_ENST00000481767.1_Missense_Mutation_p.L17V|PFN2_ENST00000452853.2_Missense_Mutation_p.L66V|PFN2_ENST00000481275.1_Missense_Mutation_p.L17V|PFN2_ENST00000423691.2_Missense_Mutation_p.L66V|PFN2_ENST00000461868.1_Missense_Mutation_p.L66V|PFN2_ENST00000490975.1_Missense_Mutation_p.L66V|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000489155.1_Missense_Mutation_p.L17V	p.L66V			P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	448	-			66					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP	ENST00000239940.7	37	c.196C>G	CCDS3148.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.878256	0.33162	.	.	ENSG00000070087	ENST00000452853;ENST00000239940;ENST00000423691;ENST00000481767;ENST00000494827;ENST00000490975;ENST00000497148;ENST00000475518;ENST00000481275;ENST00000498307;ENST00000489155;ENST00000461868	D;D;D;D;D;D;D;D;D;D;D;D	0.90133	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.62	5.28	4.39	0.52855	.	0.060906	0.64402	D	0.000003	D	0.92176	0.7519	L	0.54965	1.715	0.48341	D	0.999636	P;P;B;B	0.43231	0.641;0.801;0.017;0.058	B;P;B;B	0.55303	0.439;0.773;0.04;0.092	D	0.90435	0.4427	10	0.32370	T	0.25	.	14.3385	0.66608	0.0:0.2825:0.7175:0.0	.	66;260;66;17	G5E9Q6;D3DNI2;P35080;C9J0J7	.;.;PROF2_HUMAN;.	V	66;66;66;17;17;66;17;17;17;17;17;66	ENSP00000410464:L66V;ENSP00000239940:L66V;ENSP00000408283:L66V;ENSP00000420417:L17V;ENSP00000418523:L17V;ENSP00000417351:L66V;ENSP00000417817:L17V;ENSP00000418142:L17V;ENSP00000418216:L17V;ENSP00000420202:L17V;ENSP00000420504:L17V;ENSP00000420244:L66V	ENSP00000239940:L66V	L	-	1	0	PFN2	151168964	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	2.370000	0.44240	1.187000	0.43000	-0.175000	0.13238	CTT		0.443	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		37	222	0	0	0	1	0	37	222				
HIST1H2BN	8341	broad.mit.edu	37	6	27806606	27806606	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:27806606C>T	ENST00000396980.3	+	1	167	c.167C>T	c.(166-168)tCg>tTg	p.S56L	HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.S56L|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	56					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						ACCGGTATCTCGTCCAAGGCC	0.597																																						ENST00000606613.1																			0				central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(166-168)tCg>tTg		histone cluster 1, H2bn							223.0	202.0	209.0					6																	27806606		2203	4298	6501	SO:0001583	missense	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806606C>T	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.167C>T	6.37:g.27806606C>T	ENSP00000380177:p.Ser56Leu					HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.S56L	p.S56L			Q99877	H2B1N_HUMAN			1	228	+			56					B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	c.167C>T	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.373794	0.42105	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.73681	-0.77;-0.77	4.71	2.86	0.33363	Histone-fold (2);Histone core (1);	0.000000	0.27836	U	0.017660	T	0.68366	0.2993	M	0.92459	3.31	0.26698	N	0.971224	B;P	0.48834	0.24;0.916	B;B	0.42343	0.035;0.384	T	0.65857	-0.6066	10	0.66056	D	0.02	.	8.5697	0.33561	0.1556:0.7617:0.0:0.0826	.	56;56	Q99877;B2R4S9	H2B1N_HUMAN;.	L	56	ENSP00000446031:S56L;ENSP00000380177:S56L	ENSP00000380177:S56L	S	+	2	0	HIST1H2BN	27914585	0.969000	0.33509	0.963000	0.40424	0.763000	0.43281	2.332000	0.43903	1.242000	0.43836	0.650000	0.86243	TCG		0.597	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		78	247	0	0	0	1	0	78	247				
ABCA6	23460	broad.mit.edu	37	17	67108383	67108383	+	Silent	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:67108383C>G	ENST00000284425.2	-	16	2247	c.2073G>C	c.(2071-2073)ctG>ctC	p.L691L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	691	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTGCACACTTCAGTCTCCCAT	0.373																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(2071-2073)ctG>ctC		ATP-binding cassette, sub-family A (ABC1), member 6							148.0	156.0	153.0					17																	67108383		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67108383C>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2073G>C	17.37:g.67108383C>G							p.L691L	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			16	2247	-	Breast(10;5.65e-12)		691			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.2073G>C	CCDS11683.1																																																																																				0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		36	100	0	0	0	1	0	36	100				
BCRP7	100133163	broad.mit.edu	37	22	18845939	18845939	+	3'UTR	SNP	G	G	A	rs4473486		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr22:18845939G>A	ENST00000412938.1	+	0	3297																											TGCCTGGGCCGTGGAGCACTC	0.483																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18845939G>A																												ENST00000412938.1:c.*3294G>A	22.37:g.18845939G>A														0	3297	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.483	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	23	0	0	0	1	0	3	23				
TPP2	7174	broad.mit.edu	37	13	103297012	103297012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr13:103297012C>T	ENST00000376065.4	+	18	2317	c.2281C>T	c.(2281-2283)Cag>Tag	p.Q761*	TPP2_ENST00000376052.3_Nonsense_Mutation_p.Q761*	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	761					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACTGCTCCTCAGTTAAACAT	0.343																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(2281-2283)Cag>Tag		tripeptidyl peptidase II							157.0	132.0	141.0					13																	103297012		2203	4300	6503	SO:0001587	stop_gained	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103297012C>T	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2281C>T	13.37:g.103297012C>T	ENSP00000365233:p.Gln761*					TPP2_ENST00000376065.4_Nonsense_Mutation_p.Q761*	p.Q761*			P29144	TPP2_HUMAN			18	2297	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		761					Q5VZU8	Nonsense_Mutation	SNP	ENST00000376065.4	37	c.2281C>T	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	39	7.723275	0.98453	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.44	5.44	0.79542	.	0.055484	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	19.6179	0.95643	0.0:1.0:0.0:0.0	.	.	.	.	X	761	.	ENSP00000365220:Q761X	Q	+	1	0	TPP2	102095013	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.645000	0.74343	2.709000	0.92574	0.655000	0.94253	CAG		0.343	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			5	40	0	0	0	1	0	5	40				
KRT222	125113	broad.mit.edu	37	17	38816365	38816365	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:38816365T>A	ENST00000476049.1	-	3	361	c.320A>T	c.(319-321)gAg>gTg	p.E107V	KRT222_ENST00000394052.3_Missense_Mutation_p.E107V			Q8N1A0	KT222_HUMAN	keratin 222	107						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTCCTGTAGCTCTTTTTCTAG	0.483																																						ENST00000476049.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						c.(319-321)gAg>gTg		keratin 222							207.0	175.0	186.0					17																	38816365		2203	4300	6503	SO:0001583	missense	125113					intermediate filament	structural molecule activity	g.chr17:38816365T>A	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.320A>T	17.37:g.38816365T>A	ENSP00000463483:p.Glu107Val					KRT222_ENST00000394052.3_Missense_Mutation_p.E107V	p.E107V			Q8N1A0	KT222_HUMAN			3	361	-			107					Q7Z368	Missense_Mutation	SNP	ENST00000476049.1	37	c.320A>T	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687563	0.88639	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	D	0.91124	-2.79	5.82	5.82	0.92795	Filament (1);	0.139332	0.46758	U	0.000270	D	0.95592	0.8567	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.71656	0.854;0.974	D	0.96153	0.9109	10	0.87932	D	0	-14.0481	16.19	0.81981	0.0:0.0:0.0:1.0	.	67;107	Q8N1A0-2;Q8N1A0	.;KT222_HUMAN	V	67;107	ENSP00000377616:E107V	ENSP00000377613:E67V	E	-	2	0	KRT222	36069891	1.000000	0.71417	0.994000	0.49952	0.715000	0.41141	7.698000	0.84413	2.225000	0.72522	0.460000	0.39030	GAG		0.483	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349		24	87	0	0	0	1	0	24	87				
ARHGAP39	80728	broad.mit.edu	37	8	145756245	145756245	+	Silent	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr8:145756245C>A	ENST00000276826.5	-	9	3099	c.2898G>T	c.(2896-2898)ctG>ctT	p.L966L	ARHGAP39_ENST00000377307.2_Silent_p.L997L|ARHGAP39_ENST00000540274.1_Silent_p.L966L|C8orf82_ENST00000313465.5_5'Flank|C8orf82_ENST00000524821.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	966	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACCACAGCTTCAGCAGGGACG	0.706																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2896-2898)ctG>ctT		Rho GTPase activating protein 39							32.0	31.0	31.0					8																	145756245		2189	4293	6482	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145756245C>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2898G>T	8.37:g.145756245C>A						ARHGAP39_ENST00000540274.1_Silent_p.L966L|ARHGAP39_ENST00000377307.2_Silent_p.L997L	p.L966L			Q9C0H5	RHG39_HUMAN			9	3099	-			966			Rho-GAP.		B4E1I1	Silent	SNP	ENST00000276826.5	37	c.2898G>T																																																																																					0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			14	24	1	0	2.61681e-11	1	2.80624e-11	14	24				
FOXC1	2296	broad.mit.edu	37	6	1610983	1610983	+	Silent	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:1610983G>A	ENST00000380874.2	+	1	303	c.303G>A	c.(301-303)ctG>ctA	p.L101L		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	101				L -> Q (in Ref. 5; AAK13575). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		AGATCACCCTGAACGGCATCT	0.597																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(301-303)ctG>ctA		forkhead box C1							115.0	124.0	121.0					6																	1610983		2203	4300	6503	SO:0001819	synonymous_variant	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1610983G>A	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.303G>A	6.37:g.1610983G>A							p.L101L	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	303	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	101	L -> Q (in Ref. 5; AAK13575).				Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	ENST00000380874.2	37	c.303G>A	CCDS4473.1																																																																																				0.597	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			31	174	0	0	0	1	0	31	174				
FSIP2	401024	broad.mit.edu	37	2	186670114	186670114	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:186670114G>C	ENST00000424728.1	+	17	16081	c.16081G>C	c.(16081-16083)Gaa>Caa	p.E5361Q	FSIP2_ENST00000343098.5_Missense_Mutation_p.E5450Q			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5361										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACAGTTCATAGAAAAATGCAC	0.313																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(16348-16350)Gaa>Caa		fibrous sheath interacting protein 2							69.0	65.0	67.0					2																	186670114		1842	4080	5922	SO:0001583	missense	401024							g.chr2:186670114G>C	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16081G>C	2.37:g.186670114G>C	ENSP00000401306:p.Glu5361Gln					FSIP2_ENST00000424728.1_Missense_Mutation_p.E5361Q	p.E5450Q	NM_173651.2	NP_775922.2					17	16348	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.16348G>C		.	.	.	.	.	.	.	.	.	.	G	7.685	0.689919	0.15039	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.45276	0.9;0.9	5.28	2.27	0.28462	.	.	.	.	.	T	0.25044	0.0608	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.18681	-1.0329	7	0.25106	T	0.35	.	4.3106	0.10969	0.2076:0.191:0.6014:0.0	.	.	.	.	Q	5450;5361	ENSP00000344403:E5450Q;ENSP00000401306:E5361Q	ENSP00000344403:E5450Q	E	+	1	0	FSIP2	186378359	0.380000	0.25131	0.441000	0.26858	0.160000	0.22226	1.398000	0.34554	0.778000	0.33520	0.460000	0.39030	GAA		0.313	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		4	70	0	0	0	1	0	4	70				
IGHV3-35	28432	broad.mit.edu	37	14	106845429	106845429	+	RNA	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr14:106845429G>C	ENST00000390617.2	-	0	259									immunoglobulin heavy variable 3-35 (non-functional)																		GCCCTTCACAGAGTCTGCATA	0.522																																						ENST00000390617.2																			0																				144.0	138.0	140.0					14																	106845429		1952	4126	6078			28432							g.chr14:106845429G>C	M99666		14q32.33	2012-02-08	2008-08-22		ENSG00000211957	ENSG00000211957		"""Immunoglobulins / IGH locus"""	5598	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-35"""				Standard	NG_001019		Approved				OTTHUMG00000152079		14.37:g.106845429G>C														0	259	-									RNA	SNP	ENST00000390617.2	37																																																																																						0.522	IGHV3-35-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325174.1	NG_001019		52	172	0	0	0	1	0	52	172				
NEK5	341676	broad.mit.edu	37	13	52676138	52676138	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr13:52676138C>G	ENST00000355568.4	-	11	962	c.823G>C	c.(823-825)Gaa>Caa	p.E275Q		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	275					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGACTGAATTCTTCCTGAATG	0.468																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(823-825)Gaa>Caa		NIMA-related kinase 5							104.0	92.0	96.0					13																	52676138		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52676138C>G	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.823G>C	13.37:g.52676138C>G	ENSP00000347767:p.Glu275Gln						p.E275Q	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	11	962	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	275					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.823G>C	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397194	0.42512	.	.	ENSG00000197168	ENST00000355568	T	0.24350	1.86	5.28	4.44	0.53790	Protein kinase-like domain (1);	0.357184	0.25804	N	0.028195	T	0.22627	0.0546	L	0.34521	1.04	0.28579	N	0.910244	D	0.54397	0.966	P	0.44860	0.462	T	0.05599	-1.0875	10	0.48119	T	0.1	.	11.8626	0.52476	0.0:0.9185:0.0:0.0815	.	275	Q6P3R8	NEK5_HUMAN	Q	275	ENSP00000347767:E275Q	ENSP00000347767:E275Q	E	-	1	0	NEK5	51574139	1.000000	0.71417	0.919000	0.36401	0.315000	0.28087	4.340000	0.59328	1.368000	0.46115	-0.448000	0.05591	GAA		0.468	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		10	44	0	0	0	1	0	10	44				
TIE1	7075	broad.mit.edu	37	1	43772592	43772592	+	Missense_Mutation	SNP	C	C	T	rs183910355	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:43772592C>T	ENST00000372476.3	+	4	645	c.566C>T	c.(565-567)tCg>tTg	p.S189L	TIE1_ENST00000538015.1_Missense_Mutation_p.S189L|TIE1_ENST00000441333.2_Missense_Mutation_p.S189L|TIE1_ENST00000433781.2_5'Flank	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	189					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGCCACCATCGAGCGGCATC	0.607													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18416	0.0		0.0	False		,,,				2504	0.0					ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(565-567)tCg>tTg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1		C	LEU/SER	0,4406		0,0,2203	68.0	69.0	69.0		566	2.3	0.0	1		69	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TIE1	NM_005424.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	189/1139	43772592	1,13005	2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43772592C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.566C>T	1.37:g.43772592C>T	ENSP00000361554:p.Ser189Leu					TIE1_ENST00000441333.2_Missense_Mutation_p.S189L|TIE1_ENST00000538015.1_Missense_Mutation_p.S189L	p.S189L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			4	645	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	189					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.566C>T	CCDS482.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	7.570	0.666510	0.14710	0.0	1.16E-4	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.41758	0.99;0.99;0.99	5.26	2.32	0.28847	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.276940	0.06020	N	0.651070	T	0.30198	0.0757	L	0.36672	1.1	0.09310	N	1	B;B;B;P;B	0.36647	0.006;0.091;0.091;0.563;0.029	B;B;B;B;B	0.27500	0.002;0.006;0.003;0.08;0.003	T	0.26189	-1.0110	10	0.62326	D	0.03	.	6.2533	0.20859	0.1788:0.6109:0.0:0.2103	.	144;189;189;189;189	B4DTW8;B5A952;B5A950;B5A948;P35590	.;.;.;.;TIE1_HUMAN	L	189	ENSP00000361554:S189L;ENSP00000401903:S189L;ENSP00000440063:S189L	ENSP00000361554:S189L	S	+	2	0	TIE1	43545179	0.004000	0.15560	0.001000	0.08648	0.051000	0.14879	1.811000	0.38942	0.598000	0.29829	0.561000	0.74099	TCG		0.607	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		51	84	0	0	0	1	0	51	84				
NPM2	10361	broad.mit.edu	37	8	21883270	21883270	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr8:21883270C>G	ENST00000397940.1	+	4	1272	c.257C>G	c.(256-258)tCa>tGa	p.S86*	NPM2_ENST00000520180.1_3'UTR|NPM2_ENST00000521157.1_Nonsense_Mutation_p.S86*|NPM2_ENST00000518119.1_Nonsense_Mutation_p.S86*|NPM2_ENST00000289820.6_Nonsense_Mutation_p.S86*|NPM2_ENST00000381530.5_Nonsense_Mutation_p.S86*			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	86					chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CTCCAGGCCTCAGTCCTCCCC	0.597																																						ENST00000397940.1																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(256-258)tCa>tGa		nucleophosmin/nucleoplasmin 2							209.0	178.0	188.0					8																	21883270		2203	4300	6503	SO:0001587	stop_gained	10361				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding	g.chr8:21883270C>G	AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.257C>G	8.37:g.21883270C>G	ENSP00000381032:p.Ser86*					NPM2_ENST00000518119.1_Nonsense_Mutation_p.S86*|NPM2_ENST00000381530.5_Nonsense_Mutation_p.S86*|NPM2_ENST00000521157.1_Nonsense_Mutation_p.S86*|NPM2_ENST00000289820.6_Nonsense_Mutation_p.S86*|NPM2_ENST00000520180.1_3'UTR	p.S86*			Q86SE8	NPM2_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	4	1272	+			86					B3KSU0|D3DSQ8|Q6NVH6	Nonsense_Mutation	SNP	ENST00000397940.1	37	c.257C>G	CCDS6018.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059601	0.76074	.	.	ENSG00000158806	ENST00000520125;ENST00000521157;ENST00000397940;ENST00000522813;ENST00000518119;ENST00000289820;ENST00000381530	.	.	.	4.54	3.65	0.41850	.	0.211736	0.33110	N	0.005270	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.4908	9.0016	0.36085	0.0:0.8908:0.0:0.1092	.	.	.	.	X	86	.	ENSP00000289820:S86X	S	+	2	0	NPM2	21939216	0.658000	0.27402	0.157000	0.22605	0.128000	0.20619	3.709000	0.54853	2.101000	0.63845	0.491000	0.48974	TCA		0.597	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253810.2	NM_182795		63	173	0	0	0	1	0	63	173				
SH3RF1	57630	broad.mit.edu	37	4	170077719	170077719	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:170077719C>G	ENST00000284637.9	-	3	846	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	169	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TACCAATTTTCATCCACTTGT	0.433																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(505-507)Gaa>Caa		SH3 domain containing ring finger 1							154.0	158.0	157.0					4																	170077719		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170077719C>G	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.505G>C	4.37:g.170077719C>G	ENSP00000284637:p.Glu169Gln					SH3RF1_ENST00000508685.1_5'UTR	p.E169Q	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	3	846	-		Prostate(90;0.00267)|Renal(120;0.0183)	169			SH3 1.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.505G>C	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924633	0.73213	.	.	ENSG00000154447	ENST00000284637	T	0.53640	0.61	5.76	5.76	0.90799	Src homology-3 domain (4);	0.134929	0.64402	D	0.000002	T	0.43144	0.1234	L	0.31845	0.965	0.80722	D	1	B	0.18461	0.028	B	0.28305	0.088	T	0.18524	-1.0334	10	0.20046	T	0.44	-22.6965	20.3242	0.98691	0.0:1.0:0.0:0.0	.	169	Q7Z6J0	SH3R1_HUMAN	Q	169	ENSP00000284637:E169Q	ENSP00000284637:E169Q	E	-	1	0	SH3RF1	170314294	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.445000	0.80570	2.882000	0.98803	0.655000	0.94253	GAA		0.433	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		23	105	0	0	0	1	0	23	105				
HM13	81502	broad.mit.edu	37	20	30154072	30154072	+	Silent	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr20:30154072C>G	ENST00000340852.5	+	11	1132	c.1008C>G	c.(1006-1008)gcC>gcG	p.A336A	HM13_ENST00000398174.3_Silent_p.A336A|HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000335574.5_Silent_p.A336A|HM13-IT1_ENST00000421894.1_RNA|HM13_ENST00000376127.3_Silent_p.A294A|HM13_ENST00000492709.1_3'UTR	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	336					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TGGCGCTGGCCAAGGGAGAAG	0.617																																						ENST00000335574.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1006-1008)gcC>gcG		histocompatibility (minor) 13							108.0	91.0	97.0					20																	30154072		2203	4300	6503	SO:0001819	synonymous_variant	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30154072C>G	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.1008C>G	20.37:g.30154072C>G						HM13_ENST00000340852.5_Silent_p.A336A|HM13_ENST00000398174.3_Silent_p.A336A|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000376127.3_Silent_p.A294A	p.A336A	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		11	1132	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		336					B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Silent	SNP	ENST00000340852.5	37	c.1008C>G	CCDS13182.1																																																																																				0.617	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		9	41	0	0	0	1	0	9	41				
ARGFX	503582	broad.mit.edu	37	3	121305090	121305090	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:121305090G>C	ENST00000334384.3	+	4	601	c.591G>C	c.(589-591)gaG>gaC	p.E197D		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E197D(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CCTTCACTGAGAGTTCTACCA	0.468																																						ENST00000334384.3																			1	Substitution - Missense(1)	p.E197D(1)	large_intestine(1)	kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(589-591)gaG>gaC		arginine-fifty homeobox							149.0	146.0	147.0					3																	121305090		2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121305090G>C		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.591G>C	3.37:g.121305090G>C	ENSP00000335578:p.Glu197Asp						p.E197D	NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	4	601	+			197						Missense_Mutation	SNP	ENST00000334384.3	37	c.591G>C	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359139	0.24598	.	.	ENSG00000186103	ENST00000334384	D	0.88741	-2.42	3.42	1.45	0.22620	.	1.330220	0.05398	N	0.540246	T	0.81903	0.4921	L	0.27053	0.805	0.09310	N	1	B	0.21225	0.053	B	0.12156	0.007	T	0.66536	-0.5899	10	0.35671	T	0.21	0.0903	7.892	0.29684	0.0:0.0:0.5532:0.4468	.	197	A6NJG6	ARGFX_HUMAN	D	197	ENSP00000335578:E197D	ENSP00000335578:E197D	E	+	3	2	ARGFX	122787780	0.003000	0.15002	0.001000	0.08648	0.221000	0.24807	1.193000	0.32162	0.374000	0.24650	0.561000	0.74099	GAG		0.468	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		38	169	0	0	0	1	0	38	169				
UFSP2	55325	broad.mit.edu	37	4	186339890	186339890	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr4:186339890C>G	ENST00000264689.6	-	3	233	c.117G>C	c.(115-117)ttG>ttC	p.L39F	UFSP2_ENST00000502282.1_5'UTR|Y_RNA_ENST00000384502.1_RNA	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	39						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		ACAGGTCACTCAACACATGTT	0.348																																						ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(115-117)ttG>ttC		UFM1-specific peptidase 2							80.0	75.0	77.0					4																	186339890		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186339890C>G	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.117G>C	4.37:g.186339890C>G	ENSP00000264689:p.Leu39Phe					UFSP2_ENST00000502282.1_5'UTR	p.L39F	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	3	233	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	39					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.117G>C	CCDS3842.1	.	.	.	.	.	.	.	.	.	.	C	4.001	-0.002538	0.07819	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.52526	1.24;0.66	5.87	4.13	0.48395	.	0.074634	0.56097	D	0.000039	T	0.29491	0.0735	N	0.19112	0.55	0.27002	N	0.964886	B	0.15141	0.012	B	0.11329	0.006	T	0.15694	-1.0428	10	0.24483	T	0.36	-5.7301	8.5087	0.33204	0.0:0.6928:0.1616:0.1456	.	39	Q9NUQ7	UFSP2_HUMAN	F	39;33	ENSP00000264689:L39F;ENSP00000423108:L33F	ENSP00000264689:L39F	L	-	3	2	UFSP2	186576884	1.000000	0.71417	0.986000	0.45419	0.476000	0.33039	1.498000	0.35660	0.801000	0.34066	0.591000	0.81541	TTG		0.348	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		10	41	0	0	0	1	0	10	41				
SLC46A1	113235	broad.mit.edu	37	17	26726681	26726681	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:26726681C>T	ENST00000440501.1	-	6	1466	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	SARM1_ENST00000457710.3_3'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Silent_p.Q428Q	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	457					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	ATCAGGGGCTCTGGGGAAACT	0.562																																						ENST00000440501.1																			0				lung(5)	5						c.(1369-1371)caG>caA		solute carrier family 46 (folate transporter), member 1	Folic Acid(DB00158)						78.0	81.0	80.0					17																	26726681		1964	4166	6130	SO:0001819	synonymous_variant	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26726681C>T	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1371G>A	17.37:g.26726681C>T						SLC46A1_ENST00000321666.5_Silent_p.Q428Q|SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_3'UTR	p.Q457Q	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	6	1466	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		457					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	ENST00000440501.1	37	c.1371G>A																																																																																					0.562	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		9	30	0	0	0	1	0	9	30				
ZKSCAN4	387032	broad.mit.edu	37	6	28219640	28219640	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:28219640C>G	ENST00000377294.2	-	1	362	c.119G>C	c.(118-120)aGa>aCa	p.R40T	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	40					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCAGGGTGCTCTCACCTCCGC	0.701																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(118-120)aGa>aCa		zinc finger with KRAB and SCAN domains 4							30.0	35.0	33.0					6																	28219640		2188	4276	6464	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28219640C>G	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.119G>C	6.37:g.28219640C>G	ENSP00000366509:p.Arg40Thr					ZKSCAN4_ENST00000423974.2_Intron	p.R40T	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			1	362	-			40					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.119G>C	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	7.758	0.704816	0.15172	.	.	ENSG00000187626	ENST00000377294	T	0.05081	3.5	4.21	1.31	0.21738	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.47195	-0.9136	9	0.10636	T	0.68	.	4.3549	0.11174	0.1586:0.5982:0.1536:0.0896	.	40	Q969J2	ZKSC4_HUMAN	T	40	ENSP00000366509:R40T	ENSP00000366509:R40T	R	-	2	0	ZKSCAN4	28327619	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.046000	0.14035	0.114000	0.18032	0.563000	0.77884	AGA		0.701	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		5	74	0	0	0	1	0	5	74				
KIAA2018	205717	broad.mit.edu	37	3	113374459	113374459	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr3:113374459G>A	ENST00000478658.1	-	5	6087	c.6070C>T	c.(6070-6072)Ctt>Ttt	p.L2024F	KIAA2018_ENST00000316407.4_Missense_Mutation_p.L2024F|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	2024						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGACGTCCAAGAATCATACTG	0.463																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(6070-6072)Ctt>Ttt		KIAA2018							65.0	64.0	64.0					3																	113374459		1938	4130	6068	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374459G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.6070C>T	3.37:g.113374459G>A	ENSP00000420721:p.Leu2024Phe					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.L2024F	p.L2024F	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	6480	-			2024					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.6070C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254861	0.59212	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.28666	1.6;1.6	6.04	5.1	0.69264	.	0.075152	0.56097	D	0.000039	T	0.42921	0.1224	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	P	0.60173	0.87	T	0.29397	-1.0013	10	0.72032	D	0.01	-13.445	18.0814	0.89442	0.0:0.0:0.8716:0.1284	.	2024	Q68DE3	K2018_HUMAN	F	2024	ENSP00000320794:L2024F;ENSP00000420721:L2024F	ENSP00000320794:L2024F	L	-	1	0	KIAA2018	114857149	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.170000	0.77587	2.873000	0.98535	0.563000	0.77884	CTT		0.463	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		12	72	0	0	0	1	0	12	72				
KIF4B	285643	broad.mit.edu	37	5	154395085	154395085	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:154395085C>A	ENST00000435029.4	+	1	1826	c.1666C>A	c.(1666-1668)Caa>Aaa	p.Q556K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	556					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CATTCAGTTTCAATACCAGGA	0.403																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1666-1668)Caa>Aaa		kinesin family member 4B							63.0	65.0	65.0					5																	154395085		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395085C>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1666C>A	5.37:g.154395085C>A	ENSP00000387875:p.Gln556Lys						p.Q556K	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1826	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	556						Missense_Mutation	SNP	ENST00000435029.4	37	c.1666C>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	1.332	-0.596451	0.03771	.	.	ENSG00000226650	ENST00000435029	T	0.69175	-0.38	1.48	1.48	0.22813	.	.	.	.	.	T	0.56717	0.2004	L	0.60845	1.875	0.28999	N	0.887561	B	0.20887	0.049	B	0.17722	0.019	T	0.50162	-0.8860	9	0.31617	T	0.26	.	5.6842	0.17792	0.0:0.6529:0.3471:0.0	.	556	Q2VIQ3	KIF4B_HUMAN	K	556	ENSP00000387875:Q556K	ENSP00000387875:Q556K	Q	+	1	0	KIF4B	154375278	0.998000	0.40836	0.009000	0.14445	0.129000	0.20672	1.305000	0.33493	1.138000	0.42230	0.563000	0.77884	CAA		0.403	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			20	35	1	0	8.34094e-07	1	8.66591e-07	20	35				
RAB31	11031	broad.mit.edu	37	18	9859311	9859311	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:9859311C>T	ENST00000578921.1	+	7	818	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	RAB31_ENST00000577284.1_3'UTR	NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	192					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						AGCCAGCCGCCGGTGCTGTTG	0.577																																						ENST00000578921.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						c.(577-579)Cgg>Tgg		RAB31, member RAS oncogene family							36.0	42.0	40.0					18																	9859311		1964	4164	6128	SO:0001583	missense	11031				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr18:9859311C>T	U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"""RAB, member RAS oncogene"""	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.577C>T	18.37:g.9859311C>T	ENSP00000461945:p.Arg193Trp					RAB31_ENST00000577284.1_3'UTR	p.R193W	NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN			7	818	+			192					B2RBT7|Q15770|Q9HC00	Missense_Mutation	SNP	ENST00000578921.1	37	c.577C>T	CCDS45826.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377421	0.61735	.	.	ENSG00000168461	ENST00000306096;ENST00000435762	.	.	.	5.73	2.82	0.32997	.	0.057375	0.64402	D	0.000002	T	0.60676	0.2287	L	0.39898	1.24	0.58432	D	0.999999	D	0.76494	0.999	P	0.59115	0.852	T	0.55547	-0.8124	8	.	.	.	-19.331	11.9341	0.52864	0.4942:0.5058:0.0:0.0	.	192	Q13636	RAB31_HUMAN	W	193;184	.	.	R	+	1	2	RAB31	9849311	0.997000	0.39634	0.846000	0.33378	0.619000	0.37552	0.793000	0.26944	0.362000	0.24319	0.557000	0.71058	CGG		0.577	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442280.3			7	46	0	0	0	1	0	7	46				
LPAR2	9170	broad.mit.edu	37	19	19737862	19737862	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr19:19737862C>G	ENST00000542587.1	-	5	1134	c.232G>C	c.(232-234)Gac>Cac	p.D78H	LPAR2_ENST00000586703.1_Missense_Mutation_p.D78H|LPAR2_ENST00000407877.3_Missense_Mutation_p.D78H|LPAR2_ENST00000589311.1_5'Flank			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	78					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GCGAAGAGGTCAGCCGCGGCC	0.632																																						ENST00000542587.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(232-234)Gac>Cac		lysophosphatidic acid receptor 2							38.0	35.0	36.0					19																	19737862		2201	4300	6501	SO:0001583	missense	9170				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	g.chr19:19737862C>G	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.232G>C	19.37:g.19737862C>G	ENSP00000443256:p.Asp78His					LPAR2_ENST00000407877.3_Missense_Mutation_p.D78H|LPAR2_ENST00000586703.1_Missense_Mutation_p.D78H	p.D78H			Q9HBW0	LPAR2_HUMAN			5	1134	-			78					O00543|O43431	Missense_Mutation	SNP	ENST00000542587.1	37	c.232G>C	CCDS12407.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483961	0.63962	.	.	ENSG00000064547	ENST00000407877;ENST00000542587	D;D	0.88818	-2.43;-2.43	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96109	0.8732	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97261	0.9904	10	0.87932	D	0	.	14.5926	0.68378	0.0:1.0:0.0:0.0	.	78	Q9HBW0	LPAR2_HUMAN	H	78	ENSP00000384665:D78H;ENSP00000443256:D78H	ENSP00000384665:D78H	D	-	1	0	LPAR2	19598862	1.000000	0.71417	0.985000	0.45067	0.114000	0.19823	7.464000	0.80887	2.308000	0.77769	0.462000	0.41574	GAC		0.632	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		6	33	0	0	0	1	0	6	33				
CTAGE1	64693	broad.mit.edu	37	18	19995791	19995791	+	5'Flank	SNP	G	G	C			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr18:19995791G>C	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.P662A			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGAGGTGGAGGAACAAAGCCA	0.473																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1984-1986)Cct>Gct		cutaneous T-cell lymphoma-associated antigen 1							120.0	133.0	128.0					18																	19995791		2203	4298	6501	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995791G>C	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995791G>C	Exception_encountered						p.P662A	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	2087	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		662			Pro-rich.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1984C>G		.	.	.	.	.	.	.	.	.	.	G	4.556	0.103339	0.08731	.	.	ENSG00000212710	ENST00000391403	T	0.12255	2.7	0.614	0.614	0.17603	.	.	.	.	.	T	0.26738	0.0654	M	0.76574	2.34	0.09310	N	0.999999	P	0.50943	0.94	P	0.55713	0.782	T	0.07121	-1.0789	7	.	.	.	.	.	.	.	.	662	Q96RT6	CTGE2_HUMAN	A	662	ENSP00000375220:P662A	.	P	-	1	0	CTAGE1	18249789	0.973000	0.33851	0.089000	0.20774	0.097000	0.18754	1.386000	0.34419	0.581000	0.29539	0.298000	0.19748	CCT		0.473	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		32	171	0	0	0	1	0	32	171				
RASL11A	387496	broad.mit.edu	37	13	27847221	27847221	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr13:27847221G>A	ENST00000241463.4	+	4	937	c.319G>A	c.(319-321)Gag>Aag	p.E107K	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		GCAGTGGGCCGAGGGTTTTCT	0.517																																						ENST00000241463.4																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(319-321)Gag>Aag		RAS-like, family 11, member A							130.0	111.0	117.0					13																	27847221		2203	4300	6503	SO:0001583	missense	387496				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity	g.chr13:27847221G>A	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.319G>A	13.37:g.27847221G>A	ENSP00000241463:p.Glu107Lys					RASL11A_ENST00000480803.1_3'UTR	p.E107K	NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)	4	937	+		Lung SC(185;0.0161)	107			Small GTPase-like.			Missense_Mutation	SNP	ENST00000241463.4	37	c.319G>A	CCDS9321.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306563	0.60305	.	.	ENSG00000122035	ENST00000241463	T	0.79940	-1.32	5.52	4.67	0.58626	Small GTP-binding protein domain (1);	0.149391	0.64402	D	0.000013	T	0.76681	0.4021	L	0.46157	1.445	0.43608	D	0.995978	P	0.39964	0.697	B	0.39840	0.311	T	0.78309	-0.2254	10	0.62326	D	0.03	.	14.2018	0.65710	0.0723:0.0:0.9277:0.0	.	107	Q6T310	RSLBA_HUMAN	K	107	ENSP00000241463:E107K	ENSP00000241463:E107K	E	+	1	0	RASL11A	26745221	1.000000	0.71417	0.035000	0.18076	0.437000	0.31866	9.363000	0.97131	1.315000	0.45114	0.650000	0.86243	GAG		0.517	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2	NM_206827		4	85	0	0	0	1	0	4	85				
BTAF1	9044	broad.mit.edu	37	10	93773754	93773754	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:93773754C>G	ENST00000265990.6	+	32	4860	c.4552C>G	c.(4552-4554)Caa>Gaa	p.Q1518E	BTAF1_ENST00000544642.1_Missense_Mutation_p.Q346E	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1518					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TAAAATTATTCAAGACTATTA	0.383																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(4552-4554)Caa>Gaa		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							138.0	149.0	145.0					10																	93773754		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93773754C>G	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4552C>G	10.37:g.93773754C>G	ENSP00000265990:p.Gln1518Glu					BTAF1_ENST00000544642.1_Missense_Mutation_p.Q346E	p.Q1518E	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			32	4860	+		Colorectal(252;0.0846)	1518					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.4552C>G	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898727	0.91962	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	D;D	0.92397	-3.03;-3.03	5.8	5.8	0.92144	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.95999	0.8697	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95852	0.8875	10	0.87932	D	0	-13.2911	20.1241	0.97973	0.0:1.0:0.0:0.0	.	1518	O14981	BTAF1_HUMAN	E	1518;346;368	ENSP00000265990:Q1518E;ENSP00000439924:Q346E	ENSP00000265990:Q1518E	Q	+	1	0	BTAF1	93763734	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.764000	0.94973	0.644000	0.83932	CAA		0.383	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		18	94	0	0	0	1	0	18	94				
DENND4B	9909	broad.mit.edu	37	1	153907294	153907294	+	Silent	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:153907294C>T	ENST00000361217.4	-	18	3133	c.2715G>A	c.(2713-2715)caG>caA	p.Q905Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	905	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgctgctgct	0.632																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2713-2715)caG>caA		DENN/MADD domain containing 4B							27.0	35.0	32.0					1																	153907294		2181	4275	6456	SO:0001819	synonymous_variant	9909							g.chr1:153907294C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2715G>A	1.37:g.153907294C>T							p.Q905Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3133	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		905			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2715G>A	CCDS44228.1																																																																																				0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	73	0	0	0	1	0	4	73				
SLC35G6	643664	broad.mit.edu	37	17	7386226	7386226	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr17:7386226C>T	ENST00000412468.2	+	2	1038	c.923C>T	c.(922-924)tCt>tTt	p.S308F	POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	308	EamA 2.					integral component of membrane (GO:0016021)											GTGGCACCTTCTGACATCGTG	0.577																																						ENST00000412468.2																			0											c.(922-924)tCt>tTt		solute carrier family 35, member G6							132.0	122.0	126.0					17																	7386226		2203	4300	6503	SO:0001583	missense	643664					integral to membrane		g.chr17:7386226C>T		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.923C>T	17.37:g.7386226C>T	ENSP00000396523:p.Ser308Phe					ZBTB4_ENST00000311403.4_Intron	p.S308F	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN			2	1038	+			308			DUF6 2.			Missense_Mutation	SNP	ENST00000412468.2	37	c.923C>T	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	C	0.475	-0.882665	0.02530	.	.	ENSG00000181222	ENST00000412468	T	0.51817	0.69	4.38	3.39	0.38822	.	.	.	.	.	T	0.25044	0.0608	N	0.14661	0.345	0.28450	N	0.916389	B	0.02656	0.0	B	0.10450	0.005	T	0.25433	-1.0132	9	0.10111	T	0.7	-5.2555	5.5914	0.17303	0.354:0.552:0.0:0.094	.	308	P0C7Q6	S35G6_HUMAN	F	308	ENSP00000396523:S308F	ENSP00000396523:S308F	S	+	2	0	SLC35G6	7326950	0.999000	0.42202	1.000000	0.80357	0.424000	0.31475	1.236000	0.32683	0.953000	0.37825	-0.282000	0.10007	TCT		0.577	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		4	163	0	0	0	1	0	4	163				
FMO2	2327	broad.mit.edu	37	1	171174566	171174567	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr1:171174566_171174567insT	ENST00000209929.7	+	7	1134_1135	c.976_977insT	c.(976-978)attfs	p.I326fs	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000441535.1_Frame_Shift_Ins_p.I326fs|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	325					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGATGTCATCATTTTTGCAACA	0.396																																						ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(976-978)tttfs		flavin containing monooxygenase 2 (non-functional)																																				SO:0001589	frameshift_variant	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171174566_171174567insT	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.981dupT	1.37:g.171174571_171174571dupT	ENSP00000209929:p.Ile326fs					FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Frame_Shift_Ins_p.F326fs|RP1-127D3.4_ENST00000445909.1_RNA	p.F326fs	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			7	1093_1094	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		326					Q53XR0	Frame_Shift_Ins	INS	ENST00000209929.7	37	c.976_977insT	CCDS1293.1																																																																																				0.396	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		12	59						12	59	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	lincRNA	DEL	T	T	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244																																						ENST00000417039.1																			0																																																			0							g.chr2:38710019delT																													2.37:g.38710019delT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.244	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			2	4						2	4	---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191845380	191845399	+	Splice_Site	DEL	GGGCTGGCGTTAGGACCTAA	GGGCTGGCGTTAGGACCTAA	-	rs552751565|rs373727392|rs148573907	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr2:191845380_191845399delGGGCTGGCGTTAGGACCTAA	ENST00000361099.3	-	19	1970_1985	c.1583_1598delTTAGGTCCTAACGCCAGCCC	c.(1582-1599)gttaggtcctaacgccag>gg	p.VRS*RQ528fs	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Splice_Site_p.VRS*RQ528fs|STAT1_ENST00000392322.3_Splice_Site_p.VRS*RQ528fs|STAT1_ENST00000392323.2_Splice_Site_p.VRS*RQ530fs	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	528					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.A531T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GAGACCATCGGGGCTGGCGTTAGGACCTAAACAAATAAAA	0.436																																						ENST00000361099.3																			1	Substitution - Missense(1)	p.A531T(1)	endometrium(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.e19-1		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)																																			SO:0001630	splice_region_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191845380_191845399delGGGCTGGCGTTAGGACCTAA		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1583-1TTAGGTCCTAACGCCAGCCC>-	2.37:g.191845380_191845399delGGGCTGGCGTTAGGACCTAA						STAT1_ENST00000409465.1_Splice_Site_p.528_splice|STAT1_ENST00000392322.3_Splice_Site_p.528_splice|STAT1_ENST00000392323.2_Splice_Site_p.530_splice|STAT1_ENST00000540176.1_3'UTR	p.528_splice	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		19	1970_1985	-			528					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Splice_Site	DEL	ENST00000361099.3	37	c.1582_splice	CCDS2309.1																																																																																				0.436	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315	Frame_Shift_Del	10	53						10	53	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19747265	19747265	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr5:19747265delA	ENST00000507958.1	-	6	1299	c.309delT	c.(307-309)attfs	p.I103fs	CDH18_ENST00000506372.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000511273.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000502796.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000382275.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000274170.4_Frame_Shift_Del_p.I103fs			Q13634	CAD18_HUMAN	cadherin 18, type 2	103	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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGTATCGTCAATGATAAATA	0.433																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(307-309)atfs		cadherin 18, type 2							181.0	162.0	169.0					5																	19747265		2203	4300	6503	SO:0001589	frameshift_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747265delA	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.309delT	5.37:g.19747265delA	ENSP00000425093:p.Ile103fs					CDH18_ENST00000382275.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000511273.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000506372.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000502796.1_Frame_Shift_Del_p.I103fs|CDH18_ENST00000274170.4_Frame_Shift_Del_p.I103fs	p.I103fs			Q13634	CAD18_HUMAN			6	1299	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		103			Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Frame_Shift_Del	DEL	ENST00000507958.1	37	c.309delT	CCDS3889.1																																																																																				0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		16	60						16	60	---	---	---	---
LOC153910	153910	broad.mit.edu	37	6	142860299	142860299	+	lincRNA	DEL	T	T	-			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr6:142860299delT	ENST00000447311.1	-	0	364					NR_027312.1																						taggccagtatttttttttta	0.473																																						ENST00000447311.1																			0																																																			153910							g.chr6:142860299delT																													6.37:g.142860299delT								NR_027312.1						0	364	-									RNA	DEL	ENST00000447311.1	37																																																																																						0.473	RP11-440G9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000042494.1			4	3						4	3	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs199682553|rs112820043	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr10:118396277delG	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													G|GG|G|insertion	318	0.0634984	0.0575	0.0562	5008	,	,		21368	0.0754		0.0477	False		,,,				2504	0.0808					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2				1549,2079		408,733,673	95.0	86.0	89.0			-3.9	0.0	10	dbSNP_134	88	3867,3989		1053,1761,1114	no	intron	PNLIPRP2	NM_005396.4		1461,2494,1787	A1A1,A1R,RR		49.2235,42.6957,47.1613			118396277	5416,6068	1879	4103	5982			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396277delG	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396277delG						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	DEL	ENST00000298771.7	37																																																																																						0.423	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		2	4						2	4	---	---	---	---
TRDV2	28517	broad.mit.edu	37	14	22892201	22892202	+	RNA	INS	-	-	A	rs571556949		TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr14:22892201_22892202insA	ENST00000390469.2	+	0	520				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA					T cell receptor delta variable 2																		actaaaaatacaaaaaaaaaaa	0.545																																						ENST00000514473.2																			0																																																			101929735							g.chr14:22892201_22892202insA	X15207		14q11.2	2012-02-07			ENSG00000211821	ENSG00000211821		"""T cell receptors / TRD locus"""	12263	other	T cell receptor gene						2526321	Standard	NG_001332		Approved	hDV102S1, MGC117421			OTTHUMG00000170843		14.37:g.22892212_22892212dupA						AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000541008.1_RNA								0	225	-									RNA	INS	ENST00000390469.2	37																																																																																						0.545	TRDV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410669.1	NG_001332		2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41202088	41202089	+	Splice_Site	DEL	GT	GT	-			TCGA-P3-A5Q5-01A-11D-A28R-08	TCGA-P3-A5Q5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57af901-b526-49ff-8fae-21ac6d6455d1	6fac8c8f-b381-4cb2-8701-0d6225b76804	g.chrX:41202088_41202089delGT	ENST00000399959.2	+	6	1397_1398	c.542_543delGT	c.(541-543)agt>a	p.S181fs	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Splice_Site_p.S225fs|DDX3X_ENST00000457138.2_Splice_Site_p.S165fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	181	Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CATATTGAAAGTGTGAGTATTT	0.386										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.e6+1		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked																																				SO:0001630	splice_region_variant	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41202088_41202089delGT	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.543+1GT>-	X.37:g.41202090_41202091delGT		HNSCC(61;0.18)				DDX3X_ENST00000542215.1_Splice_Site_p.S225_splice|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Splice_Site_p.S165_splice|DDX3X_ENST00000441189.2_Intron	p.S181_splice	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			6	1397_1398	+			181					A8K538|B4E3E8|O15536	Splice_Site	DEL	ENST00000399959.2	37	c.543_splice	CCDS43931.1																																																																																				0.386	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005	Frame_Shift_Del	9	25						9	25	---	---	---	---
