#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
ABCA4	24	broad.mit.edu	37	1	94506793	94506793	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:94506793T>C	ENST00000370225.3	-	23	3580	c.3494A>G	c.(3493-3495)aAc>aGc	p.N1165S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1165					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTCTGGATGTTTTTCATCTT	0.562																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3493-3495)aAc>aGc		ATP-binding cassette, sub-family A (ABC1), member 4							118.0	110.0	113.0					1																	94506793		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94506793T>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3494A>G	1.37:g.94506793T>C	ENSP00000359245:p.Asn1165Ser						p.N1165S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	23	3580	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1165					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.3494A>G	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	3.032	-0.199470	0.06219	.	.	ENSG00000198691	ENST00000370225	D	0.90563	-2.69	5.75	-1.28	0.09318	.	1.117860	0.06451	N	0.727815	T	0.65365	0.2684	N	0.21142	0.635	0.31663	N	0.645342	B	0.02656	0.0	B	0.04013	0.001	T	0.44065	-0.9352	10	0.02654	T	1	.	11.9611	0.53009	0.0:0.0621:0.5681:0.3698	.	1165	P78363	ABCA4_HUMAN	S	1165	ENSP00000359245:N1165S	ENSP00000359245:N1165S	N	-	2	0	ABCA4	94279381	0.732000	0.28121	0.634000	0.29324	0.987000	0.75469	0.090000	0.15025	-0.138000	0.11434	0.533000	0.62120	AAC		0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	107	0	0	0	1	0	9	107				
DDC	1644	broad.mit.edu	37	7	50611624	50611624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:50611624C>A	ENST00000444124.2	-	2	360	c.160G>T	c.(160-162)Gag>Tag	p.E54*	AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Nonsense_Mutation_p.E54*|DDC_ENST00000426377.1_Nonsense_Mutation_p.E54*|DDC_ENST00000380984.4_Nonsense_Mutation_p.E54*|DDC_ENST00000357936.5_Nonsense_Mutation_p.E54*	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	54					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	ATGATGTCCTCAAACGTGTCT	0.562																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(160-162)Gag>Tag		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						145.0	133.0	137.0					7																	50611624		2203	4300	6503	SO:0001587	stop_gained	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50611624C>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.160G>T	7.37:g.50611624C>A	ENSP00000403644:p.Glu54*					DDC_ENST00000426377.1_Nonsense_Mutation_p.E54*|DDC_ENST00000431062.1_Nonsense_Mutation_p.E54*|DDC_ENST00000380984.4_Nonsense_Mutation_p.E54*|DDC_ENST00000357936.5_Nonsense_Mutation_p.E54*	p.E54*	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			2	360	-	Glioma(55;0.08)|all_neural(89;0.245)		54					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Nonsense_Mutation	SNP	ENST00000444124.2	37	c.160G>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.157518|5.157518	0.94686|0.94686	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124;ENST00000380984|ENST00000430300	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.137409|.	0.64402|.	D|.	0.000004|.	.|T	.|0.80303	.|0.4598	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77755	.|-0.2469	.|3	0.41790|.	T|.	0.15|.	-10.9604|-10.9604	20.3248|20.3248	0.98698|0.98698	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	54|19	.|.	ENSP00000350616:E54X|.	E|L	-|-	1|3	0|2	DDC|DDC	50579118|50579118	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.490000|0.490000	0.33462|0.33462	4.832000|4.832000	0.62759|0.62759	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	GAG|TTG		0.562	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			84	176	1	0	1.19472e-48	1	1.41681e-48	84	176				
CXorf67	340602	broad.mit.edu	37	X	51150063	51150063	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:51150063C>T	ENST00000342995.2	+	1	297	c.195C>T	c.(193-195)gcC>gcT	p.A65A				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	65										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCAGCACAGCCGGTTCTTCCG	0.637																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(193-195)gcC>gcT		chromosome X open reading frame 67							24.0	22.0	22.0					X																	51150063		2202	4298	6500	SO:0001819	synonymous_variant	340602							g.chrX:51150063C>T	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.195C>T	X.37:g.51150063C>T							p.A65A							1	297	+									Silent	SNP	ENST00000342995.2	37	c.195C>T																																																																																					0.637	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		5	31	0	0	0	1	0	5	31				
ST18	9705	broad.mit.edu	37	8	53062328	53062328	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:53062328A>T	ENST00000276480.7	-	16	2699	c.2016T>A	c.(2014-2016)taT>taA	p.Y672*	RP11-26M5.3_ENST00000520496.1_RNA	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	672					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGTTTTGCTATAGTTGATAG	0.443																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2014-2016)taT>taA		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							87.0	84.0	85.0					8																	53062328		2203	4300	6503	SO:0001587	stop_gained	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53062328A>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2016T>A	8.37:g.53062328A>T	ENSP00000276480:p.Tyr672*						p.Y672*	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			16	2699	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	672					Q17RY1	Nonsense_Mutation	SNP	ENST00000276480.7	37	c.2016T>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	43	10.511784	0.99419	.	.	ENSG00000147488	ENST00000276480	.	.	.	5.53	0.0881	0.14453	.	0.056719	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2298	10.0142	0.42006	0.5397:0.0:0.4603:0.0	.	.	.	.	X	672	.	ENSP00000276480:Y672X	Y	-	3	2	ST18	53224881	0.999000	0.42202	0.999000	0.59377	0.992000	0.81027	0.543000	0.23237	0.095000	0.17434	0.377000	0.23210	TAT		0.443	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			8	76	0	0	0	1	0	8	76				
EXPH5	23086	broad.mit.edu	37	11	108380358	108380358	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:108380358T>C	ENST00000265843.4	-	6	5986	c.5876A>G	c.(5875-5877)tAt>tGt	p.Y1959C	EXPH5_ENST00000525344.1_Missense_Mutation_p.Y1952C|EXPH5_ENST00000428840.1_Missense_Mutation_p.Y1883C|EXPH5_ENST00000443411.1_Missense_Mutation_p.Y1771C	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1959					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTCATCCTCATAGATATTAAG	0.448																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(5875-5877)tAt>tGt		exophilin 5							147.0	146.0	146.0					11																	108380358		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380358T>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5876A>G	11.37:g.108380358T>C	ENSP00000265843:p.Tyr1959Cys					EXPH5_ENST00000443411.1_Missense_Mutation_p.Y1771C|EXPH5_ENST00000428840.1_Missense_Mutation_p.Y1883C|EXPH5_ENST00000525344.1_Missense_Mutation_p.Y1952C	p.Y1959C	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5986	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1959					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5876A>G	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960762	0.53400	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.93	4.8	0.61643	.	0.111682	0.40640	N	0.001041	T	0.69984	0.3172	M	0.71581	2.175	0.36269	D	0.855039	D	0.89917	1.0	D	0.91635	0.999	T	0.77768	-0.2464	10	0.87932	D	0	-8.0215	12.0222	0.53350	0.0:0.0674:0.0:0.9326	.	1959	Q8NEV8	EXPH5_HUMAN	C	1959;1883;1771;1952;789	ENSP00000265843:Y1959C;ENSP00000391966:Y1883C;ENSP00000411390:Y1771C;ENSP00000432546:Y1952C	ENSP00000265843:Y1959C	Y	-	2	0	EXPH5	107885568	1.000000	0.71417	0.998000	0.56505	0.494000	0.33585	3.934000	0.56553	1.062000	0.40625	0.533000	0.62120	TAT		0.448	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		68	143	0	0	0	1	0	68	143				
LCK	3932	broad.mit.edu	37	1	32740034	32740034	+	Splice_Site	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:32740034C>T	ENST00000336890.5	+	2	242	c.104C>T	c.(103-105)aCg>aTg	p.T35M	LCK_ENST00000333070.4_Splice_Site_p.T35M|LCK_ENST00000373564.3_Splice_Site_p.T35M	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	35	Interactions with CD4 and CD8. {ECO:0000250}.			T -> R (in Ref. 2; AAA59502). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	GGCAAGGGCACGGTAAGAGGC	0.532			T	TRB@	T-ALL																																	ENST00000333070.4				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37						c.e2+1		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						79.0	69.0	72.0					1																	32740034		2203	4300	6503	SO:0001630	splice_region_variant	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32740034C>T	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.105+1C>T	1.37:g.32740034C>T						LCK_ENST00000336890.5_Splice_Site_p.T35_splice|LCK_ENST00000373564.3_Splice_Site_p.T35_splice	p.T35_splice	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN			2	204	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	35	T -> R (in Ref. 2; AAA59502).		Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Splice_Site	SNP	ENST00000336890.5	37	c.105_splice	CCDS359.1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.019149	0.54576	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.05	-4.55	0.03441	.	0.907430	0.09353	N	0.813932	T	0.17450	0.0419	N	0.08118	0	0.09310	N	1	B;B;B;B	0.14805	0.005;0.011;0.003;0.0	B;B;B;B	0.09377	0.003;0.004;0.004;0.0	T	0.15492	-1.0435	10	0.42905	T	0.14	.	4.2372	0.10632	0.4174:0.2589:0.0:0.3237	.	79;35;35;35	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	M	35;35;35;35;35;79;79;35;79;35	ENSP00000337825:T35M;ENSP00000431517:T35M;ENSP00000435605:T35M;ENSP00000434525:T35M;ENSP00000362663:T35M;ENSP00000436554:T79M;ENSP00000362658:T79M;ENSP00000328213:T35M;ENSP00000362665:T35M	ENSP00000328213:T35M	T	+	2	0	LCK	32512621	0.024000	0.19004	0.049000	0.19019	0.861000	0.49209	-0.542000	0.06091	-0.659000	0.05359	-0.314000	0.08810	ACG		0.532	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356	Missense_Mutation	28	70	0	0	0	1	0	28	70				
HRH4	59340	broad.mit.edu	37	18	22056762	22056762	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr18:22056762G>A	ENST00000256906.4	+	3	509	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	137					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TACTCTGATGGTGGCCGTTTG	0.388																																						ENST00000256906.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(409-411)Gtg>Atg		histamine receptor H4	Clozapine(DB00363)						195.0	182.0	187.0					18																	22056762		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22056762G>A	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.409G>A	18.37:g.22056762G>A	ENSP00000256906:p.Val137Met					HRH4_ENST00000426880.2_Intron	p.V137M	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN			3	509	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		137					B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.409G>A	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439729	0.63067	.	.	ENSG00000134489	ENST00000256906	T	0.39787	1.06	5.79	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.486741	0.21489	N	0.073703	T	0.55273	0.1910	M	0.82923	2.615	0.80722	D	1	P	0.41848	0.763	P	0.49421	0.61	T	0.55444	-0.8140	10	0.49607	T	0.09	-0.1362	9.8876	0.41270	0.0715:0.0:0.7887:0.1398	.	137	Q9H3N8	HRH4_HUMAN	M	137	ENSP00000256906:V137M	ENSP00000256906:V137M	V	+	1	0	HRH4	20310760	0.982000	0.34865	0.994000	0.49952	0.884000	0.51177	0.163000	0.16520	0.766000	0.33244	0.655000	0.94253	GTG		0.388	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			43	113	0	0	0	1	0	43	113				
EIF5B	9669	broad.mit.edu	37	2	100011184	100011184	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:100011184A>G	ENST00000289371.6	+	21	3294	c.3092A>G	c.(3091-3093)tAt>tGt	p.Y1031C		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1031					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTTTTAGGTATGCAGTAATT	0.338																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3091-3093)tAt>tGt		eukaryotic translation initiation factor 5B							156.0	138.0	143.0					2																	100011184		1849	4100	5949	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:100011184A>G	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3092A>G	2.37:g.100011184A>G	ENSP00000289371:p.Tyr1031Cys						p.Y1031C	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			21	3294	+			1031					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.3092A>G	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434787	0.83885	.	.	ENSG00000158417	ENST00000289371	T	0.45668	0.89	5.7	5.7	0.88788	Translation initiation factor IF- 2, domain 3 (3);	.	.	.	.	T	0.75250	0.3824	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83551	0.0101	8	.	.	.	-17.0335	15.9735	0.80040	1.0:0.0:0.0:0.0	.	1031	O60841	IF2P_HUMAN	C	1031	ENSP00000289371:Y1031C	.	Y	+	2	0	EIF5B	99377616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.159000	0.67721	0.533000	0.62120	TAT		0.338	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		48	166	0	0	0	1	0	48	166				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	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.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	58	0	0	0	1	0	4	58				
TCEAL2	140597	broad.mit.edu	37	X	101382142	101382142	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:101382142A>T	ENST00000372780.1	+	3	559	c.340A>T	c.(340-342)Agt>Tgt	p.S114C	TCEAL2_ENST00000329035.2_Missense_Mutation_p.S114C	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						agagccagagagtgagggaga	0.537																																						ENST00000372780.1																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(340-342)Agt>Tgt		transcription elongation factor A (SII)-like 2							77.0	83.0	81.0					X																	101382142		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101382142A>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.340A>T	X.37:g.101382142A>T	ENSP00000361866:p.Ser114Cys					TCEAL2_ENST00000329035.2_Missense_Mutation_p.S114C	p.S114C	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN			3	559	+			114					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.340A>T	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.985046	0.53934	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.25749	1.78;1.78	3.32	-6.64	0.01801	.	.	.	.	.	T	0.20780	0.0500	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.67900	0.954	T	0.37549	-0.9701	9	0.72032	D	0.01	.	5.1438	0.14973	0.2863:0.0:0.4982:0.2156	.	114	Q9H3H9	TCAL2_HUMAN	C	114	ENSP00000361866:S114C;ENSP00000332359:S114C	ENSP00000332359:S114C	S	+	1	0	TCEAL2	101268798	0.000000	0.05858	0.000000	0.03702	0.565000	0.35776	-1.992000	0.01476	-2.309000	0.00651	0.481000	0.45027	AGT		0.537	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		51	101	0	0	0	1	0	51	101				
RTN4RL1	146760	broad.mit.edu	37	17	1840355	1840355	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:1840355C>A	ENST00000331238.6	-	2	1240	c.761G>T	c.(760-762)gGc>gTc	p.G254V		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCAGGGGTTGCCGTTGAGGCG	0.682																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(760-762)gGc>gTc		reticulon 4 receptor-like 1							19.0	22.0	21.0					17																	1840355		1968	4138	6106	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840355C>A	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.761G>T	17.37:g.1840355C>A	ENSP00000330631:p.Gly254Val						p.G254V	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	779	-			254						Missense_Mutation	SNP	ENST00000331238.6	37	c.761G>T	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032881	0.54790	.	.	ENSG00000185924	ENST00000331238	T	0.61158	0.13	4.94	3.95	0.45737	.	0.000000	0.40064	N	0.001196	T	0.78027	0.4219	M	0.93420	3.415	0.80722	D	1	D	0.54601	0.967	P	0.56088	0.791	D	0.85166	0.0995	10	0.72032	D	0.01	.	15.3443	0.74324	0.0:0.8598:0.1402:0.0	.	254	Q86UN2	R4RL1_HUMAN	V	254	ENSP00000330631:G254V	ENSP00000330631:G254V	G	-	2	0	RTN4RL1	1787105	1.000000	0.71417	0.983000	0.44433	0.762000	0.43233	4.766000	0.62279	1.280000	0.44463	0.644000	0.83932	GGC		0.682	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		19	19	1	0	4.35082e-09	1	4.73471e-09	19	19				
TMEM54	113452	broad.mit.edu	37	1	33363922	33363922	+	Splice_Site	SNP	T	T	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:33363922T>A	ENST00000373463.3	-	2	136		c.e2-2		TMEM54_ENST00000475208.1_Splice_Site|TMEM54_ENST00000329151.5_Splice_Site	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCAGGCCTCCTGTGGGGGACA	0.602																																						ENST00000373463.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6						c.e2-2		transmembrane protein 54							50.0	48.0	49.0					1																	33363922		2203	4300	6503	SO:0001630	splice_region_variant	113452					integral to membrane		g.chr1:33363922T>A		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.17-2A>T	1.37:g.33363922T>A						TMEM54_ENST00000475208.1_Splice_Site|TMEM54_ENST00000329151.5_Splice_Site		NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN			2	136	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)						Q6UV18|Q8IVD0|Q9UM12	Splice_Site	SNP	ENST00000373463.3	37		CCDS371.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172749	0.57584	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3346	0.60509	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM54	33136509	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	4.893000	0.63199	2.205000	0.71048	0.533000	0.62120	.		0.602	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1	NM_033504	Intron	31	70	0	0	0	1	0	31	70				
LRRC3	81543	broad.mit.edu	37	21	45877295	45877295	+	Silent	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:45877295G>T	ENST00000291592.4	+	2	1085	c.768G>T	c.(766-768)ggG>ggT	p.G256G	LRRC3DN_ENST00000596691.1_5'Flank|LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	256						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCGGCCCGGGGCCCTAGCGCC	0.637																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(766-768)ggG>ggT		leucine rich repeat containing 3							17.0	22.0	20.0					21																	45877295		2134	4179	6313	SO:0001819	synonymous_variant	81543					integral to membrane	protein binding	g.chr21:45877295G>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.768G>T	21.37:g.45877295G>T							p.G256G	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	1085	+		Breast(209;0.00908)	256					Q0VDJ2	Silent	SNP	ENST00000291592.4	37	c.768G>T	CCDS13711.1																																																																																				0.637	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			6	94	1	0	5.18039e-06	1	5.50789e-06	6	94				
PCDHGB2	56103	broad.mit.edu	37	5	140741197	140741197	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:140741197C>T	ENST00000522605.1	+	1	1495	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	499	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAAGCCGCGGGAGATTTT	0.617																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1495-1497)Cgg>Tgg									36.0	39.0	38.0					5																	140741197		1931	4127	6058	SO:0001583	missense	56103							g.chr5:140741197C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1495C>T	5.37:g.140741197C>T	ENSP00000429018:p.Arg499Trp					PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.R499W	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1495	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1495C>T	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	8.255	0.809974	0.16537	.	.	ENSG00000253910	ENST00000522605	T	0.61274	0.12	5.18	1.12	0.20585	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.66934	0.2840	M	0.65677	2.01	0.09310	N	1	D;D	0.76494	0.992;0.999	P;D	0.67900	0.742;0.954	T	0.53479	-0.8433	9	0.59425	D	0.04	.	4.5895	0.12299	0.1217:0.4224:0.3403:0.1156	.	499;499	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	W	499	ENSP00000429018:R499W	ENSP00000429018:R499W	R	+	1	2	PCDHGB2	140721381	0.007000	0.16637	0.000000	0.03702	0.003000	0.03518	0.878000	0.28126	0.226000	0.20979	-0.499000	0.04595	CGG		0.617	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		20	123	0	0	0	1	0	20	123				
FAT2	2196	broad.mit.edu	37	5	150922100	150922100	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:150922100A>G	ENST00000261800.5	-	9	8600	c.8588T>C	c.(8587-8589)cTt>cCt	p.L2863P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2863	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCACAGTCAAGTTCCTGGAG	0.532																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8587-8589)cTt>cCt		FAT atypical cadherin 2							131.0	121.0	125.0					5																	150922100		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922100A>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8588T>C	5.37:g.150922100A>G	ENSP00000261800:p.Leu2863Pro						p.L2863P	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8600	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2863			Cadherin 25.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8588T>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.497630	0.44455	.	.	ENSG00000086570	ENST00000261800	T	0.75154	-0.91	6.05	6.05	0.98169	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000058	D	0.90345	0.6979	H	0.95574	3.69	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.93016	0.6436	10	0.87932	D	0	.	16.5932	0.84781	1.0:0.0:0.0:0.0	.	2863	Q9NYQ8	FAT2_HUMAN	P	2863	ENSP00000261800:L2863P	ENSP00000261800:L2863P	L	-	2	0	FAT2	150902293	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	3.976000	0.56867	2.320000	0.78422	0.528000	0.53228	CTT		0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		28	159	0	0	0	1	0	28	159				
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	T	rs11575997		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:7576852C>T	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(24)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGACTTAGTACCTGAAGGGTG	0.458		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.?(24)|p.0?(8)|p.I332fs*49(1)	ovary(8)|lung(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|NS(2)|pancreas(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD002536	TP53	D	rs11575997	c.e9+1	Other conserved DNA damage response genes	tumor protein p53							115.0	108.0	111.0					17																	7576852		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576852C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.993+1G>A	17.37:g.7576852C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1126	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361474	0.41801	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	66	68	0	0	0	1	0	66	68				
XIRP2	129446	broad.mit.edu	37	2	168101674	168101674	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:168101674G>A	ENST00000409195.1	+	9	3861	c.3772G>A	c.(3772-3774)Gat>Aat	p.D1258N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1258N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1036N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1083					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAAGAAGGTGATGAATGTGT	0.338																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(3772-3774)Gat>Aat		xin actin-binding repeat containing 2							133.0	128.0	130.0					2																	168101674		1849	4091	5940	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101674G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3772G>A	2.37:g.168101674G>A	ENSP00000386840:p.Asp1258Asn					XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1036N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1258N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	p.D1258N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	3861	+			1083					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3772G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	2.411	-0.335309	0.05278	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02606	4.23;4.23;4.23	5.78	3.98	0.46160	.	0.371459	0.25109	N	0.033075	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	B;B;B	0.30281	0.11;0.275;0.091	B;B;B	0.26202	0.02;0.067;0.026	T	0.47114	-0.9142	10	0.14656	T	0.56	-14.9557	8.8891	0.35423	0.2272:0.0:0.7728:0.0	.	1083;1083;1036	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	1258;1258;1036	ENSP00000386840:D1258N;ENSP00000295237:D1258N;ENSP00000387255:D1036N	ENSP00000295237:D1258N	D	+	1	0	XIRP2	167809920	0.000000	0.05858	0.113000	0.21522	0.581000	0.36288	-0.210000	0.09345	1.465000	0.48006	0.563000	0.77884	GAT		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		15	194	0	0	0	1	0	15	194				
HNRNPUL2	221092	broad.mit.edu	37	11	62488775	62488775	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:62488775G>A	ENST00000301785.5	-	9	1795	c.1603C>T	c.(1603-1605)Ctt>Ttt	p.L535F	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.L535F	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	535						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACCTGATCAAGAATAAAGTTC	0.428																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1603-1605)Ctt>Ttt		heterogeneous nuclear ribonucleoprotein U-like 2							178.0	190.0	186.0					11																	62488775		1915	4126	6041	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62488775G>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1603C>T	11.37:g.62488775G>A	ENSP00000301785:p.Leu535Phe					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.L535F	p.L535F	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			9	1795	-			535					Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.1603C>T	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645605	0.67358	.	.	ENSG00000214753	ENST00000301785	T	0.49720	0.77	6.17	6.17	0.99709	Zeta toxin domain (1);	0.060904	0.64402	D	0.000003	T	0.65842	0.2730	M	0.68952	2.095	0.45995	D	0.998809	D	0.76494	0.999	D	0.72982	0.979	T	0.66630	-0.5875	10	0.72032	D	0.01	-9.2308	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	535	Q1KMD3	HNRL2_HUMAN	F	535	ENSP00000301785:L535F	ENSP00000301785:L535F	L	-	1	0	HNRNPUL2	62245351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.302000	0.43637	2.941000	0.99782	0.655000	0.94253	CTT		0.428	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		20	472	0	0	0	1	0	20	472				
HTR5A	3361	broad.mit.edu	37	7	154863042	154863042	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:154863042C>T	ENST00000287907.2	+	1	1009	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	145					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GTCCATCACGCGCCACATGGA	0.632																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(433-435)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							90.0	66.0	74.0					7																	154863042		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863042C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.433C>T	7.37:g.154863042C>T	ENSP00000287907:p.Arg145Cys					AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	p.R145C	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1009	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	145					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.433C>T	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236654	0.39498	.	.	ENSG00000157219	ENST00000287907	T	0.38887	1.11	4.75	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.154752	0.56097	N	0.000038	T	0.47563	0.1452	M	0.86343	2.81	0.80722	D	1	B	0.28400	0.21	B	0.32149	0.141	T	0.49826	-0.8898	10	0.46703	T	0.11	.	7.9621	0.30076	0.1585:0.7614:0.0:0.0801	.	145	P47898	5HT5A_HUMAN	C	145	ENSP00000287907:R145C	ENSP00000287907:R145C	R	+	1	0	HTR5A	154493975	0.895000	0.30542	0.538000	0.28064	0.810000	0.45777	1.745000	0.38278	1.228000	0.43614	0.655000	0.94253	CGC		0.632	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		30	106	0	0	0	1	0	30	106				
PAPPA2	60676	broad.mit.edu	37	1	176738746	176738746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:176738746G>T	ENST00000367662.3	+	16	5491	c.4327G>T	c.(4327-4329)Gaa>Taa	p.E1443*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1443	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1443K(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTAGAAGGAAATTCTGCT	0.453																																						ENST00000367662.3																			1	Substitution - Missense(1)	p.E1443K(1)	skin(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4327-4329)Gaa>Taa		pappalysin 2							113.0	103.0	106.0					1																	176738746		1877	4106	5983	SO:0001587	stop_gained	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738746G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4327G>T	1.37:g.176738746G>T	ENSP00000356634:p.Glu1443*						p.E1443*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			16	5491	+			1443			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	c.4327G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	52	19.172415	0.99915	.	.	ENSG00000116183	ENST00000367662	.	.	.	6.17	6.17	0.99709	.	0.235047	0.42294	D	0.000729	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-12.1673	14.6223	0.68594	0.0696:0.0:0.9304:0.0	.	.	.	.	X	1443	.	ENSP00000356634:E1443X	E	+	1	0	PAPPA2	175005369	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.777000	0.38604	2.941000	0.99782	0.655000	0.94253	GAA		0.453	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			26	77	1	0	7.92952e-12	1	8.89068e-12	26	77				
SLC13A2	9058	broad.mit.edu	37	17	26817912	26817912	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:26817912G>C	ENST00000314669.5	+	4	982	c.562G>C	c.(562-564)Gtg>Ctg	p.V188L	SLC13A2_ENST00000537681.1_Missense_Mutation_p.V117L|SLC13A2_ENST00000444914.3_Missense_Mutation_p.V237L|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V145L	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	188					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAGAAGGAGGTGACCAAGCT	0.582																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(709-711)Gtg>Ctg		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						55.0	47.0	50.0					17																	26817912		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26817912G>C	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.562G>C	17.37:g.26817912G>C	ENSP00000316202:p.Val188Leu					SLC13A2_ENST00000545060.1_Missense_Mutation_p.V145L|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V117L|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V188L	p.V237L	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	4	1129	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		188					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.709G>C	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	3.455	-0.111136	0.06881	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.70045	-0.14;-0.15;-0.45;-0.45	5.31	1.98	0.26296	.	2.807830	0.01165	N	0.006727	T	0.48447	0.1500	N	0.12422	0.21	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.0;0.0	B;B;B;B;B	0.11329	0.002;0.006;0.004;0.002;0.004	T	0.32561	-0.9902	10	0.23891	T	0.37	-15.3643	5.132	0.14915	0.2025:0.1657:0.6319:0.0	.	145;237;144;117;188	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	L	188;237;145;144;117	ENSP00000316202:V188L;ENSP00000392411:V237L;ENSP00000441935:V145L;ENSP00000440802:V117L	ENSP00000316202:V188L	V	+	1	0	SLC13A2	23842039	0.000000	0.05858	0.110000	0.21437	0.392000	0.30506	0.110000	0.15437	0.560000	0.29169	0.650000	0.86243	GTG		0.582	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		10	43	0	0	0	1	0	10	43				
DUSP27	92235	broad.mit.edu	37	1	167096196	167096196	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:167096196G>A	ENST00000361200.2	+	6	1994	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	DUSP27_ENST00000443333.1_Missense_Mutation_p.E610K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E610K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	610					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGGTGGTGGAGCTCAGCAA	0.602																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1828-1830)Gag>Aag		dual specificity phosphatase 27 (putative)							54.0	53.0	53.0					1																	167096196		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096196G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1828G>A	1.37:g.167096196G>A	ENSP00000354483:p.Glu610Lys					DUSP27_ENST00000271385.5_Missense_Mutation_p.E610K|DUSP27_ENST00000443333.1_Missense_Mutation_p.E610K|DUSP27_ENST00000485151.1_Intron	p.E610K			Q5VZP5	DUS27_HUMAN			6	1994	+			610					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1828G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349927	0.61183	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04758	3.56;3.56;3.56	5.22	5.22	0.72569	.	0.169097	0.36628	N	0.002484	T	0.04227	0.0117	M	0.64997	1.995	0.34111	D	0.663038	P	0.39665	0.682	B	0.35413	0.202	T	0.15694	-1.0428	10	0.87932	D	0	-17.544	18.7824	0.91939	0.0:0.0:1.0:0.0	.	610	Q5VZP5	DUS27_HUMAN	K	610	ENSP00000354483:E610K;ENSP00000271385:E610K;ENSP00000404874:E610K	ENSP00000271385:E610K	E	+	1	0	DUSP27	165362820	1.000000	0.71417	0.608000	0.28969	0.954000	0.61252	6.251000	0.72441	2.420000	0.82092	0.643000	0.83706	GAG		0.602	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	49	0	0	0	1	0	5	49				
TRIP10	9322	broad.mit.edu	37	19	6749986	6749986	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:6749986C>T	ENST00000313244.9	+	12	1339	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L	TRIP10_ENST00000596758.1_Missense_Mutation_p.P379L|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Missense_Mutation_p.P379L|TRIP10_ENST00000600428.1_Missense_Mutation_p.P271L			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	435	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GAGAAGACACCTCAGATGGGG	0.478																																						ENST00000600428.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(811-813)cCt>cTt		thyroid hormone receptor interactor 10							75.0	86.0	82.0					19																	6749986		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6749986C>T	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1304C>T	19.37:g.6749986C>T	ENSP00000320117:p.Pro435Leu					TRIP10_ENST00000313244.9_Missense_Mutation_p.P435L|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.P379L|TRIP10_ENST00000313285.8_Missense_Mutation_p.P379L	p.P271L			Q15642	CIP4_HUMAN			11	1458	+			435			Induction of membrane tubulation.		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.812C>T		.	.	.	.	.	.	.	.	.	.	C	19.24	3.790178	0.70337	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.49720	0.77;0.77	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.71195	0.3311	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.996;0.991;0.999	T	0.76591	-0.2903	10	0.87932	D	0	-21.5656	15.7321	0.77814	0.0:1.0:0.0:0.0	.	379;435;379	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	L	379;435;379	ENSP00000320493:P379L;ENSP00000320117:P435L	ENSP00000320117:P435L	P	+	2	0	TRIP10	6700986	1.000000	0.71417	0.991000	0.47740	0.463000	0.32649	6.851000	0.75425	2.314000	0.78098	0.313000	0.20887	CCT		0.478	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			64	197	0	0	0	1	0	64	197				
ECM2	1842	broad.mit.edu	37	9	95280053	95280053	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:95280053A>T	ENST00000344604.5	-	3	546	c.397T>A	c.(397-399)Tgt>Agt	p.C133S	ECM2_ENST00000444490.2_Missense_Mutation_p.C133S|ECM2_ENST00000375540.1_Missense_Mutation_p.C133S|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	133	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GTTTCATCACAAAGAACTCTT	0.522																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(397-399)Tgt>Agt		extracellular matrix protein 2, female organ and adipocyte specific							150.0	146.0	147.0					9																	95280053		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95280053A>T	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.397T>A	9.37:g.95280053A>T	ENSP00000344758:p.Cys133Ser					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.C133S|ECM2_ENST00000375540.1_Missense_Mutation_p.C133S	p.C133S	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			3	546	-			133			VWFC.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.397T>A	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829939	0.91036	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.34	5.34	0.76211	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	H	0.98577	4.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.999;0.992;0.998	D	0.99445	1.0939	10	0.87932	D	0	.	15.6295	0.76893	1.0:0.0:0.0:0.0	.	133;133;133;133	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	S	133	ENSP00000393971:C133S;ENSP00000344758:C133S;ENSP00000364690:C133S;ENSP00000378905:C133S	ENSP00000344758:C133S	C	-	1	0	ECM2	94319874	1.000000	0.71417	0.973000	0.42090	0.975000	0.68041	7.834000	0.86773	2.158000	0.67659	0.460000	0.39030	TGT		0.522	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		113	163	0	0	0	1	0	113	163				
PRB2	653247	broad.mit.edu	37	12	11545926	11545926	+	Silent	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:11545926A>G	ENST00000389362.4	-	3	1121	c.1086T>C	c.(1084-1086)ccT>ccC	p.P362P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	362						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCTTTCCTGGAGGAGATCGGG	0.612																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(1084-1086)ccT>ccC		proline-rich protein BstNI subfamily 2							177.0	198.0	191.0					12																	11545926		2203	4300	6503	SO:0001819	synonymous_variant	653247							g.chr12:11545926A>G	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.1086T>C	12.37:g.11545926A>G						PRB1_ENST00000546254.1_Intron	p.P362P	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	1121	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	c.1086T>C	CCDS41757.2																																																																																				0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		137	503	0	0	0	1	0	137	503				
LGMN	5641	broad.mit.edu	37	14	93176022	93176022	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:93176022G>A	ENST00000393218.2	-	12	1352	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	LGMN_ENST00000555699.1_Silent_p.L339L|LGMN_ENST00000557434.1_Silent_p.L339L|LGMN_ENST00000334869.4_Silent_p.L339L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	339					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CTCACATCCAGATGCCGCTGG	0.592																																						ENST00000393218.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(1015-1017)Ctg>Ttg		legumain							110.0	114.0	113.0					14																	93176022		2203	4300	6503	SO:0001819	synonymous_variant	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93176022G>A	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.1015C>T	14.37:g.93176022G>A						LGMN_ENST00000334869.4_Silent_p.L339L|LGMN_ENST00000557434.1_Silent_p.L339L|LGMN_ENST00000555699.1_Silent_p.L339L	p.L339L	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	12	1352	-		all_cancers(154;0.0706)	339					O00123|Q86TV2|Q86TV3|Q9BTY1	Silent	SNP	ENST00000393218.2	37	c.1015C>T	CCDS9904.1																																																																																				0.592	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		62	240	0	0	0	1	0	62	240				
FARP2	9855	broad.mit.edu	37	2	242350491	242350491	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:242350491C>T	ENST00000264042.3	+	6	624	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	FARP2_ENST00000373287.4_Missense_Mutation_p.R152C|FARP2_ENST00000545004.1_Missense_Mutation_p.R152C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	152	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCTGGAAGAGCGTTTGACCTG	0.493																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(454-456)Cgt>Tgt		FERM, RhoGEF and pleckstrin domain protein 2							120.0	103.0	109.0					2																	242350491		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242350491C>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.454C>T	2.37:g.242350491C>T	ENSP00000264042:p.Arg152Cys					FARP2_ENST00000545004.1_Missense_Mutation_p.R152C|FARP2_ENST00000373287.4_Missense_Mutation_p.R152C	p.R152C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	6	624	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	152			FERM.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.454C>T	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811441	0.50527	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;T;T	0.80738	-1.41;-1.41;-1.41	5.44	4.53	0.55603	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.128598	0.52532	D	0.000068	D	0.90906	0.7142	M	0.93939	3.475	0.26837	N	0.968458	D;P;D	0.89917	0.999;0.955;1.0	P;P;D	0.63793	0.866;0.566;0.918	D	0.85524	0.1205	10	0.87932	D	0	.	13.5512	0.61734	0.3892:0.6108:0.0:0.0	.	152;152;152	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	C	152	ENSP00000264042:R152C;ENSP00000443876:R152C;ENSP00000362384:R152C	ENSP00000264042:R152C	R	+	1	0	FARP2	241999164	0.137000	0.22531	0.383000	0.26132	0.944000	0.59088	0.771000	0.26633	2.544000	0.85801	0.655000	0.94253	CGT		0.493	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			9	37	0	0	0	1	0	9	37				
KMT2C	58508	broad.mit.edu	37	7	151875040	151875040	+	Missense_Mutation	SNP	C	C	T	rs371045916		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:151875040C>T	ENST00000262189.6	-	38	7716	c.7498G>A	c.(7498-7500)Gtg>Atg	p.V2500M	KMT2C_ENST00000355193.2_Missense_Mutation_p.V2500M	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2500	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAGGAGGCACAAGGAAGCGC	0.363																																						ENST00000355193.2																			0											c.(7498-7500)Gtg>Atg		lysine (K)-specific methyltransferase 2C							89.0	93.0	92.0					7																	151875040		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151875040C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7498G>A	7.37:g.151875040C>T	ENSP00000262189:p.Val2500Met					KMT2C_ENST00000262189.6_Missense_Mutation_p.V2500M	p.V2500M							38	7716	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.7498G>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.155|9.155	1.017354|1.017354	0.19355|0.19355	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.83673	.|-1.75;-1.74	5.72|5.72	4.83|4.83	0.62350|0.62350	.|.	.|0.660845	.|0.12406	.|N	.|0.471690	T|T	0.80042|0.80042	0.4551|0.4551	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.25955	.|0.008;0.138;0.005	.|B;B;B	.|0.18871	.|0.006;0.023;0.013	T|T	0.73701|0.73701	-0.3900|-0.3900	5|10	.|0.34782	.|T	.|0.22	.|.	12.9611|12.9611	0.58458|0.58458	0.0:0.8643:0.0:0.1357|0.0:0.8643:0.0:0.1357	.|.	.|2500;1561;2500	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	Y|M	5|2500	.|ENSP00000262189:V2500M;ENSP00000347325:V2500M	.|ENSP00000262189:V2500M	C|V	-|-	2|1	0|0	MLL3|MLL3	151505973|151505973	0.838000|0.838000	0.29461|0.29461	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.013000|1.013000	0.29937|0.29937	1.429000|1.429000	0.47314|0.47314	0.650000|0.650000	0.86243|0.86243	TGT|GTG		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			29	191	0	0	0	1	0	29	191				
DDX39A	10212	broad.mit.edu	37	19	14521049	14521049	+	Silent	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:14521049C>A	ENST00000242776.4	-	6	812	c.711G>T	c.(709-711)gtG>gtT	p.V237V	DDX39A_ENST00000454233.2_Silent_p.V237V|CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	237	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						ACTTCCTGCACACAGGCCGGA	0.632																																						ENST00000242776.4																			0				NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						c.(709-711)gtG>gtT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A							160.0	103.0	123.0					19																	14521049		2203	4300	6503	SO:0001819	synonymous_variant	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14521049C>A	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.711G>T	19.37:g.14521049C>A						DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Silent_p.V237V	p.V237V	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN			6	812	-			237			Helicase ATP-binding.		Q8N5M0|Q9BVP6|Q9H5W0	Silent	SNP	ENST00000242776.4	37	c.711G>T	CCDS12308.1																																																																																				0.632	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		44	113	1	0	5.73435e-26	1	6.63034e-26	44	113				
FAXDC2	10826	broad.mit.edu	37	5	154200018	154200018	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:154200018T>C	ENST00000326080.5	-	9	1283	c.860A>G	c.(859-861)tAt>tGt	p.Y287C	FAXDC2_ENST00000517938.1_Missense_Mutation_p.Y264C	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	287					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										CAGCACCCCATAGCACTGGTT	0.572																																						ENST00000326080.5																			0											c.(859-861)tAt>tGt		fatty acid hydroxylase domain containing 2							74.0	73.0	74.0					5																	154200018		2053	4216	6269	SO:0001583	missense	10826							g.chr5:154200018T>C	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.860A>G	5.37:g.154200018T>C	ENSP00000320604:p.Tyr287Cys					FAXDC2_ENST00000517938.1_Missense_Mutation_p.Y264C	p.Y287C	NM_032385.3	NP_115761.2					9	1283	-								B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	c.860A>G	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.047182	0.55110	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	T;T	0.08720	3.06;3.06	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.44205	-0.9343	10	0.87932	D	0	.	15.0288	0.71691	0.0:0.0:0.0:1.0	.	287	Q96IV6	CE004_HUMAN	C	287;264	ENSP00000320604:Y287C;ENSP00000430286:Y264C	ENSP00000320604:Y287C	Y	-	2	0	C5orf4	154180211	1.000000	0.71417	0.996000	0.52242	0.207000	0.24258	3.896000	0.56266	1.949000	0.56562	0.459000	0.35465	TAT		0.572	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		15	94	0	0	0	1	0	15	94				
NRDE2	55051	broad.mit.edu	37	14	90798195	90798195	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:90798195G>T	ENST00000354366.3	-	1	286	c.54C>A	c.(52-54)agC>agA	p.S18R	NRDE2_ENST00000557106.1_5'UTR|NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	18																	CTTTCCTGGAGCTCCCGCCAT	0.592																																						ENST00000354366.3																			0											c.(52-54)agC>agA		NRDE-2, necessary for RNA interference, domain containing							62.0	72.0	69.0					14																	90798195		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90798195G>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.54C>A	14.37:g.90798195G>T	ENSP00000346335:p.Ser18Arg					NRDE2_ENST00000557106.1_5'UTR|NRDE2_ENST00000357904.3_5'UTR	p.S18R	NM_017970.3	NP_060440.2					1	286	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.54C>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	G	8.508	0.865759	0.17250	.	.	ENSG00000119720	ENST00000354366	T	0.24350	1.86	4.6	-1.91	0.07641	.	0.838893	0.10745	N	0.639018	T	0.15998	0.0385	L	0.36672	1.1	0.20403	N	0.999905	B	0.06786	0.001	B	0.04013	0.001	T	0.24368	-1.0162	10	0.38643	T	0.18	-3.1517	4.3888	0.11330	0.4571:0.0:0.3839:0.1589	.	18	Q9H7Z3	CN102_HUMAN	R	18	ENSP00000346335:S18R	ENSP00000346335:S18R	S	-	3	2	C14orf102	89867948	0.005000	0.15991	0.000000	0.03702	0.578000	0.36192	-0.082000	0.11304	-0.507000	0.06549	0.462000	0.41574	AGC		0.592	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		40	266	1	0	8.20599e-20	1	9.37103e-20	40	266				
PMAIP1	5366	broad.mit.edu	37	18	57569917	57569917	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr18:57569917G>A	ENST00000316660.6	+	2	327	c.97G>A	c.(97-99)Gga>Aga	p.G33R	PMAIP1_ENST00000269518.9_Nonsense_Mutation_p.W83*	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	33					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|proteasomal protein catabolic process (GO:0010498)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to dsRNA (GO:0043331)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)	1		Colorectal(73;0.0946)				CAGGAGATTTGGAGACAAACT	0.433																																						ENST00000269518.9																			0				breast(1)	1						c.(247-249)tGg>tAg		phorbol-12-myristate-13-acetate-induced protein 1							104.0	105.0	105.0					18																	57569917		2203	4300	6503	SO:0001583	missense	5366				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding	g.chr18:57569917G>A	D90070	CCDS11975.1	18q21.32	2014-03-07			ENSG00000141682	ENSG00000141682			9108	protein-coding gene	gene with protein product		604959				2398525, 12879012	Standard	NM_021127		Approved	APR, NOXA	uc002lic.2	Q13794	OTTHUMG00000132765	ENST00000316660.6:c.97G>A	18.37:g.57569917G>A	ENSP00000326119:p.Gly33Arg					PMAIP1_ENST00000316660.6_Missense_Mutation_p.G33R	p.W83*			Q13794	APR_HUMAN			3	410	+		Colorectal(73;0.0946)	0					B2R4T7|Q8N589	Nonsense_Mutation	SNP	ENST00000316660.6	37	c.248G>A	CCDS11975.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.939493|4.939493	0.92526|0.92526	.|.	.|.	ENSG00000141682|ENSG00000141682	ENST00000316660|ENST00000269518	.|.	.|.	.|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.827775	.|0.09907	.|N	.|0.740342	T|.	0.75295|.	0.3830|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.72367|.	-0.4315|.	7|.	0.87932|0.87932	D|D	0|0	.|.	14.9298|14.9298	0.70906|0.70906	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	33|.	Q13794|.	APR_HUMAN|.	R|X	33|83	.|.	ENSP00000326119:G33R|ENSP00000269518:W83X	G|W	+|+	1|2	0|0	PMAIP1|PMAIP1	55720897|55720897	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.523000|0.523000	0.34469|0.34469	4.473000|4.473000	0.60196|0.60196	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.433	PMAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256137.1	NM_021127		42	92	0	0	0	1	0	42	92				
SH3TC1	54436	broad.mit.edu	37	4	8224685	8224685	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:8224685G>T	ENST00000245105.3	+	10	1298	c.1231G>T	c.(1231-1233)Gtg>Ttg	p.V411L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.V335L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	411										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGTCTGCAGCGTGTACAGCCT	0.602																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1003-1005)Gtg>Ttg		SH3 domain and tetratricopeptide repeats 1							89.0	79.0	82.0					4																	8224685		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8224685G>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1231G>T	4.37:g.8224685G>T	ENSP00000245105:p.Val411Leu					SH3TC1_ENST00000245105.3_Missense_Mutation_p.V411L	p.V335L			Q8TE82	S3TC1_HUMAN			10	1377	+			411			SH3.		Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.1003G>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	7.812	0.715968	0.15306	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.53640	0.61;0.61	4.1	2.29	0.28610	.	1.016070	0.07860	N	0.966081	T	0.46814	0.1412	L	0.57536	1.79	0.09310	N	1	B	0.30664	0.289	B	0.34301	0.179	T	0.40515	-0.9559	10	0.44086	T	0.13	-2.9908	8.7476	0.34596	0.1948:0.0:0.8052:0.0	.	411	Q8TE82	S3TC1_HUMAN	L	149;411;335;240	ENSP00000245105:V411L;ENSP00000441045:V335L	ENSP00000245105:V411L	V	+	1	0	SH3TC1	8275585	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.684000	0.25364	0.193000	0.20303	0.561000	0.74099	GTG		0.602	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		9	55	1	0	2.80697e-09	1	3.07272e-09	9	55				
GLDC	2731	broad.mit.edu	37	9	6587232	6587232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:6587232G>A	ENST00000321612.6	-	15	1909	c.1759C>T	c.(1759-1761)Caa>Taa	p.Q587*		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	587					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CCTTGAGCTTGATCCAGAGGC	0.403																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1759-1761)Caa>Taa		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						102.0	94.0	97.0					9																	6587232		2203	4300	6503	SO:0001587	stop_gained	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6587232G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1759C>T	9.37:g.6587232G>A	ENSP00000370737:p.Gln587*						p.Q587*	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	15	1909	-		Acute lymphoblastic leukemia(23;0.161)	587					Q2M2F8	Nonsense_Mutation	SNP	ENST00000321612.6	37	c.1759C>T	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	40	8.200265	0.98701	.	.	ENSG00000178445	ENST00000321612	.	.	.	5.26	4.35	0.52113	.	0.057098	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.1007	15.1548	0.72733	0.0:0.0:0.8576:0.1424	.	.	.	.	X	587	.	ENSP00000370737:Q587X	Q	-	1	0	GLDC	6577232	1.000000	0.71417	0.979000	0.43373	0.966000	0.64601	9.476000	0.97823	1.181000	0.42912	0.557000	0.71058	CAA		0.403	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		31	78	0	0	0	1	0	31	78				
GSKIP	51527	broad.mit.edu	37	14	96851862	96851862	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:96851862G>A	ENST00000556095.1	+	4	2073	c.261G>A	c.(259-261)gtG>gtA	p.V87V	GSKIP_ENST00000555181.1_Silent_p.V87V|GSKIP_ENST00000554182.1_Silent_p.V87V|RNU2-33P_ENST00000410344.1_RNA|GSKIP_ENST00000438650.1_Silent_p.V87V	NM_001271904.1	NP_001258833.1	Q9P0R6	GSKIP_HUMAN	GSK3B interacting protein	87						cytoplasm (GO:0005737)											TCTTGTAGGTGGTAGGCTATG	0.398																																						ENST00000556095.1																			0											c.(259-261)gtG>gtA		GSK3B interacting protein							143.0	124.0	131.0					14																	96851862		2203	4300	6503	SO:0001819	synonymous_variant	51527							g.chr14:96851862G>A	AF151044	CCDS32153.1	14q32.2	2012-09-25	2012-09-25	2012-09-25	ENSG00000100744	ENSG00000100744			20343	protein-coding gene	gene with protein product	"""GSK3beta interaction protein"""		"""chromosome 14 open reading frame 129"""	C14orf129		16981698, 21328310	Standard	NM_001271904		Approved		uc031qqf.1	Q9P0R6	OTTHUMG00000171420	ENST00000556095.1:c.261G>A	14.37:g.96851862G>A						GSKIP_ENST00000438650.1_Silent_p.V87V|GSKIP_ENST00000554182.1_Silent_p.V87V|GSKIP_ENST00000555181.1_Silent_p.V87V	p.V87V	NM_001271904.1	NP_001258833.1					4	2073	+								B3KSZ0|Q9BST1|Q9NWK0	Silent	SNP	ENST00000556095.1	37	c.261G>A	CCDS32153.1																																																																																				0.398	GSKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413338.1	NM_016472		38	150	0	0	0	1	0	38	150				
GRIN2B	2904	broad.mit.edu	37	12	13828761	13828761	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:13828761T>G	ENST00000609686.1	-	4	1252	c.1043A>C	c.(1042-1044)aAt>aCt	p.N348T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	348					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAAGGACAAATTCCTCCCCTC	0.408																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1042-1044)aAt>aCt		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						115.0	113.0	113.0					12																	13828761		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13828761T>G		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1043A>C	12.37:g.13828761T>G	ENSP00000477455:p.Asn348Thr						p.N348T	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			4	1252	-			348					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1043A>C	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461486	0.84317	.	.	ENSG00000150086	ENST00000279593	T	0.05382	3.45	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	M	0.62016	1.91	0.80722	D	1	P	0.51933	0.949	P	0.55455	0.776	T	0.00251	-1.1877	10	0.40728	T	0.16	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	348	Q13224	NMDE2_HUMAN	T	348	ENSP00000279593:N348T	ENSP00000279593:N348T	N	-	2	0	GRIN2B	13720028	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.650000	0.83521	2.291000	0.77112	0.533000	0.62120	AAT		0.408	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			35	117	0	0	0	1	0	35	117				
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29230748	29230748	+	lincRNA	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:29230748A>G	ENST00000441381.1	+	0	79																											AACAACAACAACAACACAATG	0.388																																						ENST00000441381.1																			0																				65.0	56.0	59.0					6																	29230748		1987	4169	6156			0							g.chr6:29230748A>G																													6.37:g.29230748A>G														0	79	+									RNA	SNP	ENST00000441381.1	37																																																																																						0.388	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000192829.1			10	64	0	0	0	1	0	10	64				
FLT1	2321	broad.mit.edu	37	13	28880897	28880897	+	Missense_Mutation	SNP	C	C	T	rs372046832		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:28880897C>T	ENST00000282397.4	-	29	3984	c.3733G>A	c.(3733-3735)Gac>Aac	p.D1245N	FLT1_ENST00000543394.1_Missense_Mutation_p.D268N|FLT1_ENST00000540678.1_Missense_Mutation_p.D463N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1245					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCTGCTGTCGCCCTGGTAG	0.552																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(3733-3735)Gac>Aac		fms-related tyrosine kinase 1	Sunitinib(DB01268)	C	ASN/ASP	0,4406		0,0,2203	85.0	77.0	80.0		3733	3.5	0.0	13		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLT1	NM_002019.4	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1245/1339	28880897	1,13005	2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28880897C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3733G>A	13.37:g.28880897C>T	ENSP00000282397:p.Asp1245Asn					FLT1_ENST00000543394.1_Missense_Mutation_p.D268N|FLT1_ENST00000540678.1_Missense_Mutation_p.D463N	p.D1245N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	29	3984	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1245					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3733G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289171	0.59976	0.0	1.16E-4	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;D;T	0.82081	-1.38;-1.57;-1.48	5.23	3.47	0.39725	.	0.232475	0.42294	N	0.000731	D	0.82426	0.5034	L	0.52905	1.665	0.21290	N	0.999731	D	0.69078	0.997	P	0.51193	0.662	T	0.75096	-0.3438	10	0.87932	D	0	.	9.3249	0.37986	0.0:0.8319:0.0:0.1681	.	1245	P17948	VGFR1_HUMAN	N	1245;268;463	ENSP00000282397:D1245N;ENSP00000437841:D268N;ENSP00000443311:D463N	ENSP00000282397:D1245N	D	-	1	0	FLT1	27778897	0.640000	0.27243	0.025000	0.17156	0.062000	0.15995	3.206000	0.51098	1.326000	0.45319	0.650000	0.86243	GAC		0.552	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			26	83	0	0	0	1	0	26	83				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	28	0	0	0	1	0	5	28				
TRAPPC6A	79090	broad.mit.edu	37	19	45681404	45681404	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:45681404G>T	ENST00000585934.1	-	1	91	c.73C>A	c.(73-75)Ccc>Acc	p.P25T	TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.P25T|BLOC1S3_ENST00000587722.1_5'Flank|BLOC1S3_ENST00000433642.2_5'Flank|AC005779.2_ENST00000593083.1_5'Flank|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.P25T|TRAPPC6A_ENST00000006275.4_Missense_Mutation_p.P25T	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	25					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CCCGGGCCGGGGTCGGGGTCG	0.677																																						ENST00000006275.4																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8						c.(73-75)Ccc>Acc		trafficking protein particle complex 6A							35.0	36.0	35.0					19																	45681404		2200	4294	6494	SO:0001583	missense	79090				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr19:45681404G>T	AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"""Trafficking protein particle complex"""	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.73C>A	19.37:g.45681404G>T	ENSP00000468612:p.Pro25Thr					TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.P25T|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.P25T|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.P25T	p.P25T	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)	1	91	-		all_neural(266;0.224)|Ovarian(192;0.231)	25					K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Missense_Mutation	SNP	ENST00000585934.1	37	c.73C>A	CCDS59397.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335418	0.41398	.	.	ENSG00000007255	ENST00000006275	T	0.38560	1.13	4.9	3.87	0.44632	NO signalling/Golgi transport  ligand-binding domain (1);	0.618140	0.15544	N	0.256789	T	0.35595	0.0937	L	0.45581	1.43	0.80722	D	1	B;B	0.21381	0.055;0.0	B;B	0.31191	0.125;0.002	T	0.06180	-1.0841	10	0.12766	T	0.61	-12.7583	9.8608	0.41114	0.0974:0.0:0.9026:0.0	.	25;25	O75865;O75865-2	TPC6A_HUMAN;.	T	25	ENSP00000006275:P25T	ENSP00000006275:P25T	P	-	1	0	TRAPPC6A	50373244	0.983000	0.35010	0.962000	0.40283	0.907000	0.53573	0.727000	0.25999	1.393000	0.46605	0.478000	0.44815	CCC		0.677	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	NM_024108		17	86	1	0	9.16793e-09	1	9.91852e-09	17	86				
OR2T4	127074	broad.mit.edu	37	1	248524920	248524920	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:248524920G>T	ENST00000366475.1	+	1	38	c.38G>T	c.(37-39)tGg>tTg	p.W13L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	13						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(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACACTGGATGGTCGGATTTC	0.483																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(37-39)tGg>tTg		olfactory receptor, family 2, subfamily T, member 4							85.0	79.0	81.0					1																	248524920		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524920G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.38G>T	1.37:g.248524920G>T	ENSP00000355431:p.Trp13Leu						p.W13L	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	38	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		13					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.38G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	8.386	0.838530	0.16891	.	.	ENSG00000196944	ENST00000366475	T	0.01438	4.89	1.58	-3.17	0.05202	.	.	.	.	.	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46803	-0.9165	9	0.87932	D	0	.	3.9555	0.09388	0.2362:0.0:0.6002:0.1636	.	13	Q8NH00	OR2T4_HUMAN	L	13	ENSP00000355431:W13L	ENSP00000355431:W13L	W	+	2	0	OR2T4	246591543	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.519000	0.06260	-1.057000	0.03201	0.405000	0.27470	TGG		0.483	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		27	99	1	0	1.17739e-12	1	1.32816e-12	27	99				
TEKT3	64518	broad.mit.edu	37	17	15231310	15231310	+	Splice_Site	SNP	G	G	A	rs143165525	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:15231310G>A	ENST00000395930.1	-	4	848	c.662C>T	c.(661-663)aCg>aTg	p.T221M	TEKT3_ENST00000338696.2_Splice_Site_p.T221M	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	221					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CACATTTACCGTCAGCAGTTG	0.383													G|||	3	0.000599042	0.0008	0.0	5008	,	,		20476	0.0		0.002	False		,,,				2504	0.0					ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.e4+1		tektin 3		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	219.0	168.0	185.0		662	2.9	1.0	17	dbSNP_134	185	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	TEKT3	NM_031898.2	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	221/491	15231310	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15231310G>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.663+1C>T	17.37:g.15231310G>A						TEKT3_ENST00000338696.2_Splice_Site_p.T221_splice	p.T221_splice	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	4	848	-			221					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Splice_Site	SNP	ENST00000395930.1	37	c.663_splice	CCDS11169.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	9.928	1.214074	0.22289	2.27E-4	1.16E-4	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.02498	4.27;4.27;4.27	4.93	2.94	0.34122	.	0.148882	0.64402	D	0.000012	T	0.03348	0.0097	L	0.47716	1.5	0.80722	D	1	B	0.27765	0.188	B	0.22753	0.041	T	0.46978	-0.9152	10	0.56958	D	0.05	-15.0722	9.3811	0.38313	0.1691:0.0:0.8309:0.0	.	221	Q9BXF9	TEKT3_HUMAN	M	221;221;55	ENSP00000379263:T221M;ENSP00000343995:T221M;ENSP00000443280:T55M	ENSP00000343995:T221M	T	-	2	0	TEKT3	15172035	1.000000	0.71417	0.982000	0.44146	0.386000	0.30323	1.750000	0.38329	0.498000	0.27948	-0.424000	0.05967	ACG		0.383	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898	Missense_Mutation	44	136	0	0	0	1	0	44	136				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	193	0	0	0	1	0	4	193				
MYO10	4651	broad.mit.edu	37	5	16674967	16674967	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:16674967C>T	ENST00000513610.1	-	35	5413	c.4959G>A	c.(4957-4959)ctG>ctA	p.L1653L	MYO10_ENST00000505695.1_Silent_p.L992L|MYO10_ENST00000427430.2_Silent_p.L1010L|MYO10_ENST00000515803.1_Silent_p.L992L|MYO10_ENST00000274203.9_Silent_p.L1010L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1653	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				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						TTTACCTTTTCAGATGGAACT	0.547																																						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.(4957-4959)ctG>ctA		myosin X							104.0	106.0	105.0					5																	16674967		2039	4203	6242	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16674967C>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.4959G>A	5.37:g.16674967C>T						MYO10_ENST00000505695.1_Silent_p.L992L|MYO10_ENST00000515803.1_Silent_p.L992L|MYO10_ENST00000427430.2_Silent_p.L1010L|MYO10_ENST00000274203.9_Silent_p.L1010L	p.L1653L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			35	5413	-			1653			MyTH4.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.4959G>A	CCDS54834.1																																																																																				0.547	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		27	277	0	0	0	1	0	27	277				
ACSM2B	348158	broad.mit.edu	37	16	20559465	20559465	+	Silent	SNP	C	C	T	rs374113110		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:20559465C>T	ENST00000329697.6	-	8	1185	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	ACSM2B_ENST00000565232.1_Silent_p.E339E|ACSM2B_ENST00000567001.1_Silent_p.E339E|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Silent_p.E260E	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	339					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAAGAAGGGACTCCCCTCCAG	0.527																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1015-1017)gaG>gaA		acyl-CoA synthetase medium-chain family member 2B		C	,	0,4402		0,0,2201	131.0	136.0	134.0		1017,1017	-3.0	0.0	16		134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ACSM2B	NM_001105069.1,NM_182617.3	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	339/578,339/578	20559465	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20559465C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1017G>A	16.37:g.20559465C>T						ACSM2B_ENST00000565232.1_Silent_p.E339E|ACSM2B_ENST00000565322.1_Silent_p.E260E|ACSM2B_ENST00000567001.1_Silent_p.E339E|ACSM2B_ENST00000567288.1_5'UTR	p.E339E	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			8	1185	-			339					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.1017G>A	CCDS10586.1																																																																																				0.527	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		98	208	0	0	0	1	0	98	208				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																692099							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	86	0	0	0	1	0	4	86				
OLFM4	10562	broad.mit.edu	37	13	53616150	53616150	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:53616150G>T	ENST00000219022.2	+	3	541	c.463G>T	c.(463-465)Gac>Tac	p.D155Y		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	155					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CACTGAACTGGACTTCGAGCT	0.403																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(463-465)Gac>Tac		olfactomedin 4							125.0	112.0	117.0					13																	53616150		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53616150G>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.463G>T	13.37:g.53616150G>T	ENSP00000219022:p.Asp155Tyr						p.D155Y	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	3	541	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	155					O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.463G>T	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476948	0.63849	.	.	ENSG00000102837	ENST00000219022	D	0.90788	-2.73	5.71	5.71	0.89125	.	0.049301	0.85682	D	0.000000	D	0.91751	0.7391	M	0.77103	2.36	0.80722	D	1	P	0.43938	0.822	B	0.41466	0.358	D	0.92658	0.6139	10	0.72032	D	0.01	.	19.4627	0.94924	0.0:0.0:1.0:0.0	.	155	Q6UX06	OLFM4_HUMAN	Y	155	ENSP00000219022:D155Y	ENSP00000219022:D155Y	D	+	1	0	OLFM4	52514151	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	8.827000	0.92041	2.709000	0.92574	0.655000	0.94253	GAC		0.403	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		32	90	1	0	9.65021e-13	1	1.09527e-12	32	90				
TNFRSF6B	8771	broad.mit.edu	37	20	62326202	62326202	+	5'Flank	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr20:62326202C>T	ENST00000369996.1	+	0	0				RTEL1_ENST00000318100.4_Missense_Mutation_p.S1073F|RTEL1_ENST00000360203.5_Missense_Mutation_p.S1073F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S1073F|RTEL1_ENST00000370018.3_Missense_Mutation_p.S1073F|RTEL1_ENST00000508582.2_Missense_Mutation_p.S1097F|RTEL1_ENST00000370003.1_Missense_Mutation_p.S318F	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GCCCTGGGGTCCGCGGGCTGT	0.662																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(3217-3219)tCc>tTc		regulator of telomere elongation helicase 1							36.0	41.0	39.0					20																	62326202		2180	4278	6458	SO:0001631	upstream_gene_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62326202C>T	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62326202C>T	Exception_encountered					RTEL1_ENST00000508582.2_Missense_Mutation_p.S1097F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S1073F|RTEL1_ENST00000370003.1_Missense_Mutation_p.S318F|RTEL1_ENST00000370018.3_Missense_Mutation_p.S1073F|RTEL1_ENST00000360203.5_Missense_Mutation_p.S1073F	p.S1073F			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		32	4045	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		1073						Missense_Mutation	SNP	ENST00000369996.1	37	c.3218C>T	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735381	0.30774	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	D;D;D;D;T	0.82167	-1.56;-1.58;-1.52;-1.56;0.85	4.76	3.75	0.43078	.	1.180790	0.05968	N	0.641925	D	0.87505	0.6194	L	0.51422	1.61	0.09310	N	1	P;D;P;P	0.65815	0.941;0.995;0.902;0.941	P;P;P;P	0.61201	0.735;0.885;0.547;0.735	T	0.74300	-0.3710	10	0.66056	D	0.02	-7.0935	9.5035	0.39033	0.3145:0.6855:0.0:0.0	.	1097;318;1073;1073	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	F	1073;1073;1097;1073;318	ENSP00000359035:S1073F;ENSP00000322287:S1073F;ENSP00000424307:S1097F;ENSP00000353332:S1073F;ENSP00000359020:S318F	ENSP00000353332:S1073F	S	+	2	0	AL353715.1	61796646	0.000000	0.05858	0.044000	0.18714	0.022000	0.10575	0.533000	0.23082	2.169000	0.68431	0.462000	0.41574	TCC		0.662	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			24	148	0	0	0	1	0	24	148				
SCYL2	55681	broad.mit.edu	37	12	100728042	100728042	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:100728042G>A	ENST00000360820.2	+	14	2297	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	620					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AAGAACAGCAGAAGTAAGTAG	0.338																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1858-1860)caG>caA		SCY1-like 2 (S. cerevisiae)							100.0	95.0	96.0					12																	100728042		2203	4296	6499	SO:0001819	synonymous_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100728042G>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1860G>A	12.37:g.100728042G>A							p.Q620Q	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			14	2297	+			620					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.1860G>A	CCDS9076.1																																																																																				0.338	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		24	70	0	0	0	1	0	24	70				
GPC5	2262	broad.mit.edu	37	13	92560274	92560274	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:92560274T>C	ENST00000377067.3	+	6	1736	c.1364T>C	c.(1363-1365)aTa>aCa	p.I455T		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	455					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATCCTGTGATAAATCAGATT	0.358																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1363-1365)aTa>aCa		glypican 5							62.0	62.0	62.0					13																	92560274		1342	2300	3642	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92560274T>C	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1364T>C	13.37:g.92560274T>C	ENSP00000366267:p.Ile455Thr						p.I455T	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			6	1736	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	455					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1364T>C	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908138	0.33721	.	.	ENSG00000179399	ENST00000377067	T	0.58940	0.3	4.84	4.84	0.62591	.	0.265192	0.34484	N	0.003933	T	0.65626	0.2709	M	0.69823	2.125	0.37667	D	0.923004	B	0.30605	0.287	B	0.43194	0.411	T	0.73135	-0.4078	10	0.87932	D	0	-5.6459	12.4307	0.55573	0.0:0.0:0.0:1.0	.	455	P78333	GPC5_HUMAN	T	455	ENSP00000366267:I455T	ENSP00000366267:I455T	I	+	2	0	GPC5	91358275	1.000000	0.71417	0.997000	0.53966	0.390000	0.30446	4.315000	0.59172	1.945000	0.56424	0.477000	0.44152	ATA		0.358	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		21	63	0	0	0	1	0	21	63				
LRRK2	120892	broad.mit.edu	37	12	40681270	40681270	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:40681270A>T	ENST00000298910.7	+	20	2676	c.2618A>T	c.(2617-2619)gAt>gTt	p.D873V	LRRK2_ENST00000343742.2_Missense_Mutation_p.D873V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	873					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCTAAATTTGATGAATGGACC	0.383																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(2617-2619)gAt>gTt		leucine-rich repeat kinase 2							124.0	120.0	121.0					12																	40681270		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40681270A>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2618A>T	12.37:g.40681270A>T	ENSP00000298910:p.Asp873Val					LRRK2_ENST00000343742.2_Missense_Mutation_p.D873V	p.D873V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			20	2676	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	873					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.2618A>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619650	0.46736	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71817	2.23;-0.6	5.38	2.23	0.28157	.	0.292336	0.37809	N	0.001934	T	0.51618	0.1685	N	0.19112	0.55	0.20307	N	0.999913	P;P	0.44946	0.671;0.846	B;B	0.38985	0.143;0.287	T	0.49123	-0.8972	10	0.62326	D	0.03	.	9.4021	0.38440	0.7857:0.0:0.2143:0.0	.	873;873	E9PC85;Q5S007	.;LRRK2_HUMAN	V	873	ENSP00000341930:D873V;ENSP00000298910:D873V	ENSP00000298910:D873V	D	+	2	0	LRRK2	38967537	1.000000	0.71417	0.725000	0.30721	0.605000	0.37080	2.153000	0.42282	0.673000	0.31224	0.402000	0.26972	GAT		0.383	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		11	80	0	0	0	1	0	11	80				
ADCY8	114	broad.mit.edu	37	8	131922053	131922053	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:131922053G>A	ENST00000286355.5	-	6	3633	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L	ADCY8_ENST00000377928.3_Missense_Mutation_p.S514L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	514					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCACAGCACCGAGCCGGAGTG	0.478										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1540-1542)tCg>tTg		adenylate cyclase 8 (brain)							236.0	184.0	202.0					8																	131922053		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131922053G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1541C>T	8.37:g.131922053G>A	ENSP00000286355:p.Ser514Leu	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.S514L	p.S514L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		6	3633	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		514						Missense_Mutation	SNP	ENST00000286355.5	37	c.1541C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726068	0.89298	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.84298	-1.83;-1.83;-1.83	5.93	5.93	0.95920	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	M	0.90870	3.155	0.54753	D	0.999988	D;D	0.89917	0.998;1.0	D;D	0.91635	0.992;0.999	D	0.94599	0.7794	10	0.66056	D	0.02	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	514;514	E7EVL1;P40145	.;ADCY8_HUMAN	L	514;514;129	ENSP00000286355:S514L;ENSP00000367161:S514L;ENSP00000428010:S129L	ENSP00000286355:S514L	S	-	2	0	ADCY8	131991235	1.000000	0.71417	0.960000	0.40013	0.243000	0.25628	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	TCG		0.478	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			25	177	0	0	0	1	0	25	177				
MARVELD3	91862	broad.mit.edu	37	16	71663461	71663461	+	Intron	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:71663461G>A	ENST00000268485.3	+	2	639				MARVELD3_ENST00000567566.1_Silent_p.*220*|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_Intron|RP11-432I5.2_ENST00000562763.1_RNA	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3						cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGGATGGTCTGAGCTGGTGAA	0.403																																						ENST00000567566.1																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(658-660)tGa>tAa		MARVEL domain containing 3																																				SO:0001627	intron_variant	91862					integral to membrane		g.chr16:71663461G>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.595+64G>A	16.37:g.71663461G>A						MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000268485.3_Intron|MARVELD3_ENST00000567501.1_Intron|MARVELD3_ENST00000299952.4_Intron	p.*220*			Q96A59	MALD3_HUMAN			2	728	+		Ovarian(137;0.125)	0			MARVEL.		A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000268485.3	37	c.659G>A	CCDS10904.1																																																																																				0.403	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		11	66	0	0	0	1	0	11	66				
PTGER2	5732	broad.mit.edu	37	14	52794093	52794093	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:52794093G>A	ENST00000245457.5	+	2	1152	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	PTGER2_ENST00000557436.1_Missense_Mutation_p.R78Q	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	333					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CTCTGTTGTCGGATTTCATTA	0.408																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(997-999)cGg>cAg		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						100.0	95.0	97.0					14																	52794093		2203	4300	6503	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52794093G>A		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.998G>A	14.37:g.52794093G>A	ENSP00000245457:p.Arg333Gln					PTGER2_ENST00000557436.1_Missense_Mutation_p.R78Q	p.R333Q	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			2	1152	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		333					D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.998G>A	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061161	0.36373	.	.	ENSG00000125384	ENST00000557436;ENST00000245457	T;T	0.38560	1.13;1.13	5.32	3.11	0.35812	.	0.376383	0.27402	N	0.019535	T	0.24774	0.0601	L	0.31207	0.915	0.32381	N	0.554565	B	0.18166	0.026	B	0.08055	0.003	T	0.15954	-1.0419	10	0.22109	T	0.4	-15.3489	5.3522	0.16042	0.3389:0.0:0.6611:0.0	.	333	P43116	PE2R2_HUMAN	Q	78;333	ENSP00000450933:R78Q;ENSP00000245457:R333Q	ENSP00000245457:R333Q	R	+	2	0	PTGER2	51863843	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	0.810000	0.27183	1.391000	0.46566	0.650000	0.86243	CGG		0.408	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			35	139	0	0	0	1	0	35	139				
CCDC151	115948	broad.mit.edu	37	19	11537572	11537572	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:11537572C>T	ENST00000356392.4	-	5	732	c.645G>A	c.(643-645)aaG>aaA	p.K215K	CCDC151_ENST00000545100.1_Silent_p.K161K|CCDC151_ENST00000586836.1_Silent_p.K24K|CCDC151_ENST00000591179.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	215										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCATCTGGGCCTTCTCCAGGC	0.627																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(643-645)aaG>aaA		coiled-coil domain containing 151							53.0	58.0	56.0					19																	11537572		2036	4187	6223	SO:0001819	synonymous_variant	115948							g.chr19:11537572C>T		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.645G>A	19.37:g.11537572C>T						CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000586836.1_Silent_p.K24K|CCDC151_ENST00000545100.1_Silent_p.K161K	p.K215K	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			5	732	-			215					B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	c.645G>A	CCDS42501.1																																																																																				0.627	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		26	73	0	0	0	1	0	26	73				
ZNF880	400713	broad.mit.edu	37	19	52888227	52888227	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:52888227G>A	ENST00000422689.2	+	4	1409	c.1394G>A	c.(1393-1395)aGa>aAa	p.R465K		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	465					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AAACCTTACAGATGTGATGAA	0.398																																						ENST00000422689.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(1393-1395)aGa>aAa		zinc finger protein 880							72.0	68.0	69.0					19																	52888227		692	1591	2283	SO:0001583	missense	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52888227G>A	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1394G>A	19.37:g.52888227G>A	ENSP00000406318:p.Arg465Lys						p.R465K	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN			4	1409	+			465					B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	c.1394G>A	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.589485	0.00126	.	.	ENSG00000221923	ENST00000422689	T	0.15603	2.41	2.03	-1.56	0.08532	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.00885	-1.115	0.09310	N	1	B	0.17667	0.023	B	0.06405	0.002	T	0.41106	-0.9527	8	.	.	.	.	3.66	0.08236	0.4793:0.1941:0.3266:0.0	.	465	Q6PDB4	ZN880_HUMAN	K	465	ENSP00000406318:R465K	.	R	+	2	0	ZNF880	57580039	0.000000	0.05858	0.063000	0.19743	0.251000	0.25915	-1.595000	0.02093	-0.639000	0.05502	-0.271000	0.10264	AGA		0.398	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		4	15	0	0	0	1	0	4	15				
FAM222B	55731	broad.mit.edu	37	17	27086837	27086837	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:27086837G>A	ENST00000341217.5	-	3	355	c.140C>T	c.(139-141)gCg>gTg	p.A47V	FAM222B_ENST00000581407.1_Missense_Mutation_p.A47V|FAM222B_ENST00000583953.1_Intron|FAM222B_ENST00000577682.1_Intron|FAM222B_ENST00000583522.1_Intron|FAM222B_ENST00000582266.1_Intron|FAM222B_ENST00000582059.1_Intron|FAM222B_ENST00000452648.3_Missense_Mutation_p.A47V|FAM222B_ENST00000581381.1_Intron	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	47																	CTTAGCATACGCATCCAATTC	0.502																																						ENST00000341217.5																			0											c.(139-141)gCg>gTg		family with sequence similarity 222, member B							61.0	60.0	61.0					17																	27086837		1978	4142	6120	SO:0001583	missense	55731							g.chr17:27086837G>A	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.140C>T	17.37:g.27086837G>A	ENSP00000343115:p.Ala47Val					FAM222B_ENST00000452648.3_Missense_Mutation_p.A47V|FAM222B_ENST00000583953.1_Intron|FAM222B_ENST00000583522.1_Intron|FAM222B_ENST00000582266.1_Intron|FAM222B_ENST00000582059.1_Intron|FAM222B_ENST00000581407.1_Missense_Mutation_p.A47V|FAM222B_ENST00000581381.1_Intron|FAM222B_ENST00000577682.1_Intron	p.A47V	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN			3	355	-			47					Q9H6F3|Q9NVJ4|Q9NXN6	Missense_Mutation	SNP	ENST00000341217.5	37	c.140C>T	CCDS45637.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076266	0.36662	.	.	ENSG00000173065	ENST00000341217;ENST00000452648	T;T	0.60672	0.17;0.17	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.74122	0.3675	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77656	-0.2506	10	0.87932	D	0	-3.2072	16.7193	0.85406	0.0:0.0:1.0:0.0	.	47	Q8WU58	CQ063_HUMAN	V	47	ENSP00000343115:A47V;ENSP00000413645:A47V	ENSP00000343115:A47V	A	-	2	0	C17orf63	24110963	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.191000	0.94940	2.504000	0.84457	0.561000	0.74099	GCG		0.502	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		11	19	0	0	0	1	0	11	19				
ZNF670	93474	broad.mit.edu	37	1	247201495	247201495	+	Silent	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:247201495A>G	ENST00000366503.2	-	4	584	c.426T>C	c.(424-426)caT>caC	p.H142H		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATTGTTTGCAATGATATAACT	0.413																																						ENST00000366503.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(424-426)caT>caC		zinc finger protein 670							182.0	159.0	167.0					1																	247201495		2203	4300	6503	SO:0001819	synonymous_variant	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247201495A>G		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.426T>C	1.37:g.247201495A>G							p.H142H	NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	584	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	142						Silent	SNP	ENST00000366503.2	37	c.426T>C	CCDS31087.1																																																																																				0.413	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		74	199	0	0	0	1	0	74	199				
VPS13B	157680	broad.mit.edu	37	8	100287445	100287445	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:100287445C>G	ENST00000358544.2	+	19	2898	c.2787C>G	c.(2785-2787)atC>atG	p.I929M	VPS13B_ENST00000395996.1_Missense_Mutation_p.I929M|VPS13B_ENST00000357162.2_Missense_Mutation_p.I929M	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	929					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTCACAATCCAAGTTCCAC	0.398																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(2785-2787)atC>atG		vacuolar protein sorting 13 homolog B (yeast)							148.0	151.0	150.0					8																	100287445		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100287445C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2787C>G	8.37:g.100287445C>G	ENSP00000351346:p.Ile929Met					VPS13B_ENST00000358544.2_Missense_Mutation_p.I929M|VPS13B_ENST00000357162.2_Missense_Mutation_p.I929M	p.I929M			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		19	2898	+	Breast(36;3.73e-07)		929					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2787C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.733134	0.30684	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.70986	-0.53;-0.53;-0.24	5.43	-3.31	0.04988	.	0.255369	0.32736	N	0.005702	T	0.42539	0.1207	N	0.12182	0.205	0.38080	D	0.936646	B;B;B;B	0.09022	0.002;0.002;0.001;0.002	B;B;B;B	0.10450	0.005;0.005;0.002;0.005	T	0.01675	-1.1298	10	0.54805	T	0.06	.	3.5971	0.08010	0.0884:0.3901:0.2827:0.2389	.	929;929;929;929	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	M	929	ENSP00000349685:I929M;ENSP00000351346:I929M;ENSP00000379318:I929M	ENSP00000349685:I929M	I	+	3	3	VPS13B	100356621	0.050000	0.20438	0.950000	0.38849	0.989000	0.77384	-0.940000	0.03929	-0.508000	0.06540	-0.469000	0.05056	ATC		0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		43	292	0	0	0	1	0	43	292				
C4B	721	broad.mit.edu	37	6	31996297	31996297	+	Missense_Mutation	SNP	G	G	A	rs2258218	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:31996297G>A	ENST00000435363.2	+	25	3302	c.3218G>A	c.(3217-3219)gGc>gAc	p.G1073D	C4B_ENST00000425700.2_Missense_Mutation_p.G1073D	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1073			G -> D (in allotype C4B2 and allotype C4B5-Rg1). {ECO:0000269|PubMed:6546707, ECO:0000269|Ref.3}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTGTCACGGGGCAGCAGCACC	0.617																																						ENST00000435363.2																			0											c.(3217-3219)gGc>gAc		complement component 4B (Chido blood group)							80.0	64.0	69.0					6																	31996297		2166	4204	6370	SO:0001583	missense	721				complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity	g.chr6:31996297G>A	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3218G>A	6.37:g.31996297G>A	ENSP00000415941:p.Gly1073Asp					C4B_ENST00000425700.2_Missense_Mutation_p.G1073D	p.G1073D	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN			25	3302	+			1073		D -> G (in allotype C4B1 and allotype C4B3; dbSNP:rs2258218).			A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000435363.2	37	c.3218G>A	CCDS47405.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.023980	0.00414	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.12774	2.65;2.65	4.65	2.05	0.26809	.	.	.	.	.	T	0.00695	0.0023	N	0.00268	-1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45920	-0.9228	9	0.16896	T	0.51	.	3.9306	0.09283	0.6287:0.1801:0.1913:0.0	.	1073;1073	F5GXS0;Q6U2E9	.;.	D	1073	ENSP00000415941:G1073D;ENSP00000391933:G1073D	ENSP00000391933:G1073D	G	+	2	0	C4B	32104275	0.000000	0.05858	0.241000	0.24154	0.036000	0.12997	-0.332000	0.07904	0.169000	0.19679	-1.524000	0.00929	GGC		0.617	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		4	64	0	0	0	1	0	4	64				
ACOT13	55856	broad.mit.edu	37	6	24667534	24667534	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:24667534A>G	ENST00000230048.4	+	1	236	c.43A>G	c.(43-45)Atg>Gtg	p.M15V	ACOT13_ENST00000537591.1_5'UTR|TDP2_ENST00000378198.4_5'Flank|TDP2_ENST00000545995.1_5'Flank|TDP2_ENST00000341060.3_5'Flank	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	15					metabolic process (GO:0008152)|protein homotetramerization (GO:0051289)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA hydrolase activity (GO:0047617)			large_intestine(1)	1						GATAAAGGCCATGACCAAGGC	0.512											OREG0017230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230048.4																			0				large_intestine(1)	1						c.(43-45)Atg>Gtg		acyl-CoA thioesterase 13							101.0	93.0	95.0					6																	24667534		2203	4300	6503	SO:0001583	missense	55856				protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity	g.chr6:24667534A>G	AF220186	CCDS4558.1, CCDS54972.1	6p22.1	2009-11-20	2009-05-05	2009-05-05	ENSG00000112304	ENSG00000112304		"""Acyl CoA thioesterases"""	20999	protein-coding gene	gene with protein product		615652	"""thioesterase superfamily member 2"""	THEM2		16934754, 19405909	Standard	NM_018473		Approved	HT012	uc003nek.3	Q9NPJ3	OTTHUMG00000014359	ENST00000230048.4:c.43A>G	6.37:g.24667534A>G	ENSP00000230048:p.Met15Val		OREG0017230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	773	ACOT13_ENST00000537591.1_5'UTR	p.M15V	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN			1	236	+			15					F5H2L4|O95549	Missense_Mutation	SNP	ENST00000230048.4	37	c.43A>G	CCDS4558.1	.	.	.	.	.	.	.	.	.	.	A	3.027	-0.200482	0.06219	.	.	ENSG00000112304	ENST00000230048	.	.	.	5.11	-10.2	0.00374	.	1.376880	0.04711	N	0.417702	T	0.12263	0.0298	M	0.66939	2.045	0.22446	N	0.999099	B	0.02656	0.0	B	0.01281	0.0	T	0.15896	-1.0421	9	0.20046	T	0.44	0.2601	4.8647	0.13602	0.1207:0.4346:0.0622:0.3824	.	15	Q9NPJ3	ACO13_HUMAN	V	15	.	ENSP00000230048:M15V	M	+	1	0	ACOT13	24775513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.652000	0.00107	-5.836000	0.00009	-1.838000	0.00587	ATG		0.512	ACOT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040010.2	NM_018473		16	41	0	0	0	1	0	16	41				
KHDRBS2	202559	broad.mit.edu	37	6	62390900	62390900	+	Missense_Mutation	SNP	C	C	G	rs139583671		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:62390900C>G	ENST00000281156.4	-	9	1296	c.1018G>C	c.(1018-1020)Gga>Cga	p.G340R	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCCCTGTATCCCCCTCTGGCT	0.493																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1018-1020)Gga>Cga		KH domain containing, RNA binding, signal transduction associated 2		C	ARG/GLY	0,4406		0,0,2203	205.0	141.0	163.0		1018	5.1	1.0	6	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KHDRBS2	NM_152688.2	125	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	340/350	62390900	1,13005	2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62390900C>G	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.1018G>C	6.37:g.62390900C>G	ENSP00000281156:p.Gly340Arg					RP1-240B8.3_ENST00000511849.2_RNA	p.G340R	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	9	1296	-			340					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.1018G>C	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789050	0.31685	0.0	1.16E-4	ENSG00000112232	ENST00000281156	T	0.44482	0.92	5.13	5.13	0.70059	.	0.233151	0.42964	N	0.000633	T	0.26448	0.0646	L	0.29908	0.895	0.58432	D	0.999999	B	0.32526	0.374	B	0.37267	0.245	T	0.11131	-1.0600	10	0.45353	T	0.12	.	18.9222	0.92529	0.0:1.0:0.0:0.0	.	340	Q5VWX1	KHDR2_HUMAN	R	340	ENSP00000281156:G340R	ENSP00000281156:G340R	G	-	1	0	KHDRBS2	62448859	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.395000	0.73228	2.541000	0.85698	0.650000	0.86243	GGA		0.493	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		10	73	0	0	0	1	0	10	73				
STEAP2	261729	broad.mit.edu	37	7	89861767	89861767	+	Silent	SNP	T	T	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:89861767T>G	ENST00000287908.3	+	5	1695	c.1302T>G	c.(1300-1302)ctT>ctG	p.L434L	STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394629.2_Silent_p.L434L|STEAP2_ENST00000394626.1_Silent_p.L434L|STEAP2_ENST00000394622.2_Silent_p.L434L|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394621.2_Silent_p.L434L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	434					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ACTTTGTTCTTGCTCTTGTTT	0.353																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(1300-1302)ctT>ctG		STEAP family member 2, metalloreductase							135.0	130.0	132.0					7																	89861767		2203	4299	6502	SO:0001819	synonymous_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89861767T>G	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1302T>G	7.37:g.89861767T>G						STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394629.2_Silent_p.L434L|STEAP2_ENST00000394621.2_Silent_p.L434L|STEAP2_ENST00000394626.1_Silent_p.L434L|STEAP2_ENST00000394622.2_Silent_p.L434L	p.L434L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			5	1695	+	all_hematologic(106;0.112)		434					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	c.1302T>G	CCDS5615.1																																																																																				0.353	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		24	74	0	0	0	1	0	24	74				
XKRX	402415	broad.mit.edu	37	X	100177997	100177997	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:100177997T>A	ENST00000372956.2	-	2	993	c.389A>T	c.(388-390)gAg>gTg	p.E130V	XKRX_ENST00000468904.1_Intron|XKRX_ENST00000328526.5_Missense_Mutation_p.E143V			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						ATAGGGCTCCTCCTGCTCCTC	0.507																																						ENST00000328526.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						c.(427-429)gAg>gTg		XK, Kell blood group complex subunit-related, X-linked							155.0	135.0	142.0					X																	100177997		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100177997T>A	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.389A>T	X.37:g.100177997T>A	ENSP00000362047:p.Glu130Val					XKRX_ENST00000372956.2_Missense_Mutation_p.E130V|XKRX_ENST00000468904.1_Intron	p.E143V	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN			2	993	-			130					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.428A>T	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631248	0.67015	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.66460	-0.21;-0.21	5.2	5.2	0.72013	.	0.046042	0.85682	D	0.000000	T	0.71753	0.3377	M	0.70595	2.14	0.46317	D	0.998984	D	0.53462	0.96	P	0.51777	0.679	T	0.73212	-0.4054	10	0.44086	T	0.13	-11.3372	10.19	0.43021	0.0:0.0:0.0:1.0	.	130	Q6PP77	XKR2_HUMAN	V	143;130	ENSP00000327570:E143V;ENSP00000362047:E130V	ENSP00000327570:E143V	E	-	2	0	XKRX	100064653	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.662000	0.83803	1.931000	0.55961	0.441000	0.28932	GAG		0.507	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		146	255	0	0	0	1	0	146	255				
WDR60	55112	broad.mit.edu	37	7	158738290	158738290	+	Silent	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:158738290G>T	ENST00000407559.3	+	25	3179	c.3021G>T	c.(3019-3021)gcG>gcT	p.A1007A		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1007					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)		CCATGGCTGCGGTGGGTGAGC	0.622																																						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.(3019-3021)gcG>gcT		WD repeat domain 60							11.0	16.0	14.0					7																	158738290		2064	4201	6265	SO:0001819	synonymous_variant	55112							g.chr7:158738290G>T		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.3021G>T	7.37:g.158738290G>T							p.A1007A	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)	25	3179	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	1007					Q9NW58	Silent	SNP	ENST00000407559.3	37	c.3021G>T	CCDS47757.1																																																																																				0.622	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		3	26	1	0	0.00909568	1	0.00919509	3	26				
LIPE	3991	broad.mit.edu	37	19	42930494	42930494	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:42930494C>T	ENST00000244289.4	-	1	1084	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	270					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CCTGACATCACTTTATAACCA	0.488																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(808-810)Gtg>Atg		lipase, hormone-sensitive							156.0	148.0	151.0					19																	42930494		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930494C>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.808G>A	19.37:g.42930494C>T	ENSP00000244289:p.Val270Met					LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	p.V270M	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	1084	-		Prostate(69;0.00682)	270					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.808G>A	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	7.908	0.735879	0.15574	.	.	ENSG00000079435	ENST00000244289	T	0.03272	3.99	3.58	-1.63	0.08345	.	1.814990	0.03253	N	0.182158	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46076	-0.9217	10	0.56958	D	0.05	-0.1793	6.7851	0.23670	0.0:0.3932:0.0:0.6068	.	270	Q05469	LIPS_HUMAN	M	270	ENSP00000244289:V270M	ENSP00000244289:V270M	V	-	1	0	LIPE	47622334	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.192000	0.09587	-0.237000	0.09739	0.655000	0.94253	GTG		0.488	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		34	161	0	0	0	1	0	34	161				
BCCIP	56647	broad.mit.edu	37	10	127519144	127519144	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr10:127519144C>T	ENST00000278100.6	+	4	347	c.335C>T	c.(334-336)tCa>tTa	p.S112L	BCCIP_ENST00000299130.3_Missense_Mutation_p.S112L|BCCIP_ENST00000368759.5_Missense_Mutation_p.S112L|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000478798.1_3'UTR	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	112	Interaction with BRCA2.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACGGATGTTTCAGAAGACAGC	0.313																																						ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(334-336)tCa>tTa		BRCA2 and CDKN1A interacting protein							144.0	143.0	143.0					10																	127519144		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127519144C>T	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.335C>T	10.37:g.127519144C>T	ENSP00000278100:p.Ser112Leu					BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000278100.6_Missense_Mutation_p.S112L|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000368759.5_Missense_Mutation_p.S112L	p.S112L	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN			4	347	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	112			Interaction with BRCA2.		B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.335C>T	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378305	0.24944	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000392718	T;T;T	0.47528	0.88;0.87;0.84	5.36	5.36	0.76844	.	0.238662	0.43110	D	0.000613	T	0.38904	0.1058	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.29188	0.048;0.148;0.236;0.024	B;B;B;B	0.24155	0.051;0.03;0.048;0.016	T	0.29305	-1.0016	10	0.30854	T	0.27	-5.1645	6.9225	0.24395	0.2876:0.6304:0.0:0.082	.	112;112;112;112	B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;BCCIP_HUMAN	L	112	ENSP00000278100:S112L;ENSP00000299130:S112L;ENSP00000357748:S112L	ENSP00000278100:S112L	S	+	2	0	BCCIP	127509134	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.484000	0.53201	2.533000	0.85409	0.585000	0.79938	TCA		0.313	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			14	123	0	0	0	1	0	14	123				
SIPA1	6494	broad.mit.edu	37	11	65417519	65417519	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:65417519G>T	ENST00000394224.3	+	13	3141	c.2845G>T	c.(2845-2847)Gag>Tag	p.E949*	SIPA1_ENST00000394227.3_Nonsense_Mutation_p.E847*|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000527525.1_Nonsense_Mutation_p.E847*|SIPA1_ENST00000534313.1_Nonsense_Mutation_p.E949*	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	949					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCTGTCCCGAGAGGGTGAGGC	0.627																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2845-2847)Gag>Tag		signal-induced proliferation-associated 1							79.0	79.0	79.0					11																	65417519		2201	4297	6498	SO:0001587	stop_gained	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65417519G>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2845G>T	11.37:g.65417519G>T	ENSP00000377771:p.Glu949*					SIPA1_ENST00000394227.3_Nonsense_Mutation_p.E847*|SIPA1_ENST00000527525.1_Nonsense_Mutation_p.E847*|SIPA1_ENST00000534313.1_Nonsense_Mutation_p.E949*	p.E949*	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			13	3141	+			949					O14518|O60484|O60618|Q2YD83	Nonsense_Mutation	SNP	ENST00000394224.3	37	c.2845G>T	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	G	39	7.391606	0.98255	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	.	.	.	4.1	4.1	0.47936	.	0.650263	0.13320	U	0.396777	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-7.1095	11.8163	0.52214	0.0:0.0:1.0:0.0	.	.	.	.	X	949;847;949;847	.	ENSP00000377771:E949X	E	+	1	0	SIPA1	65174095	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	5.721000	0.68477	1.843000	0.53566	0.297000	0.19635	GAG		0.627	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		43	135	1	0	1.62957e-23	1	1.87249e-23	43	135				
ECT2L	345930	broad.mit.edu	37	6	139206872	139206872	+	Missense_Mutation	SNP	G	G	A	rs79865247	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:139206872G>A	ENST00000423192.1	+	17	2325	c.2164G>A	c.(2164-2166)Gct>Act	p.A722T	ECT2L_ENST00000367682.2_Missense_Mutation_p.A722T|ECT2L_ENST00000541398.1_Intron			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	722	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTCTCTACGCTGTCAGGCT	0.468			"""N, Splice, Mis"""		ETP ALL								G|||	3	0.000599042	0.0	0.0	5008	,	,		19919	0.0		0.003	False		,,,				2504	0.0					ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2164-2166)Gct>Act		epithelial cell transforming sequence 2 oncogene-like		G	THR/ALA,THR/ALA	1,4015		0,1,2007	55.0	56.0	56.0		2164,2164	5.3	0.9	6	dbSNP_131	56	22,8374		0,22,4176	yes	missense,missense	ECT2L	NM_001077706.2,NM_001195037.2	58,58	0,23,6183	AA,AG,GG		0.262,0.0249,0.1853	probably-damaging,probably-damaging	722/905,722/905	139206872	23,12389	2008	4198	6206	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139206872G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2164G>A	6.37:g.139206872G>A	ENSP00000387388:p.Ala722Thr					ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Missense_Mutation_p.A722T	p.A722T			Q008S8	ECT2L_HUMAN			17	2325	+			722			DH.		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2164G>A	CCDS43508.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	17.67	3.448214	0.63178	2.49E-4	0.00262	ENSG00000203734	ENST00000423192;ENST00000367682	T;T	0.29917	1.55;1.55	5.3	5.3	0.74995	Dbl homology (DH) domain (5);	0.000000	0.40640	U	0.001058	T	0.28101	0.0693	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	T	0.02398	-1.1165	10	0.17832	T	0.49	-4.7815	15.8981	0.79350	0.0:0.0:1.0:0.0	.	722	Q008S8	ECT2L_HUMAN	T	722	ENSP00000387388:A722T;ENSP00000356655:A722T	ENSP00000356655:A722T	A	+	1	0	ECT2L	139248565	1.000000	0.71417	0.938000	0.37757	0.139000	0.21198	7.452000	0.80683	2.488000	0.83962	0.655000	0.94253	GCT		0.468	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		25	62	0	0	0	1	0	25	62				
MC1R	4157	broad.mit.edu	37	16	89986164	89986164	+	Silent	SNP	G	G	A	rs374959395		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:89986164G>A	ENST00000555147.1	+	1	1878	c.498G>A	c.(496-498)gcG>gcA	p.A166A	RP11-566K11.4_ENST00000554623.1_RNA|TUBB3_ENST00000556922.1_Silent_p.A166A|MC1R_ENST00000555427.1_Silent_p.A166A|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000554444.1_5'Flank	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	166			A -> G (shows a moderate and not significant decrease of cAMP production to NDP-MSH stimulation; shows a not significant decrease in cAMP production at any concentrations of NDP-MSH stimulation; dbSNP:rs35040147). {ECO:0000269|PubMed:16463023}.		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGCCGTTGCGGCCATCTGGG	0.647									Melanoma, Familial Clustering of																													ENST00000555427.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(496-498)gcG>gcA		melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)		G		0,4380		0,0,2190	48.0	54.0	52.0		498	-9.6	0.0	16		52	2,8588		0,2,4293	no	coding-synonymous	MC1R	NM_002386.3		0,2,6483	AA,AG,GG		0.0233,0.0,0.0154		166/318	89986164	2,12968	2190	4295	6485	SO:0001819	synonymous_variant	4157	Melanoma, Familial Clustering of	Familial Cancer Database					g.chr16:89986164G>A		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.498G>A	16.37:g.89986164G>A						TUBB3_ENST00000556922.1_Silent_p.A166A|MC1R_ENST00000555147.1_Silent_p.A166A	p.A166A						BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2801	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)						Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Silent	SNP	ENST00000555147.1	37	c.498G>A	CCDS56011.1																																																																																				0.647	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		28	125	0	0	0	1	0	28	125				
PRB3	5544	broad.mit.edu	37	12	11421068	11421068	+	Nonsense_Mutation	SNP	G	G	A	rs533793961		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:11421068G>A	ENST00000279573.7	-	3	250	c.115C>T	c.(115-117)Cga>Tga	p.R39*	PRB3_ENST00000538488.1_Nonsense_Mutation_p.R39*|PRB3_ENST00000381842.3_Nonsense_Mutation_p.R39*|PRB3_ENST00000440870.3_5'UTR			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	39	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGCGTCGTCCTTCTGGC	0.547													-|||	1	0.000199681	0.0008	0.0	5008	,	,		13936	0.0		0.0	False		,,,				2504	0.0					ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							96.0	80.0	85.0					12																	11421068		2143	4242	6385	SO:0001587	stop_gained	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11421068G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.115C>T	12.37:g.11421068G>A	ENSP00000279573:p.Arg39*					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	152	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	10.73	1.431272	0.25813	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	.	.	.	0.548	-1.1	0.09872	.	.	.	.	.	.	.	.	.	.	.	0.51767	A	0.999938	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	.	.	.	.	.	.	.	X	39	.	ENSP00000279573:R39X	R	-	1	2	PRB3	11312335	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.642000	0.05427	-0.466000	0.06943	0.164000	0.16699	CGA		0.547	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		48	145	0	0	0	1	0	48	145				
HNF1A	6927	broad.mit.edu	37	12	121432043	121432043	+	Missense_Mutation	SNP	G	G	A	rs193922604		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:121432043G>A	ENST00000257555.6	+	4	1016	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	HNF1A_ENST00000543427.1_Missense_Mutation_p.V147I|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.V264I|HNF1A_ENST00000402929.1_Missense_Mutation_p.V264I|HNF1A_ENST00000400024.2_Missense_Mutation_p.V264I|HNF1A_ENST00000541395.1_Missense_Mutation_p.V264I			P20823	HNF1A_HUMAN	HNF1 homeobox A	264	Interaction with DNA.				glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAGGTGCGTGTCTACAACTG	0.647									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CM082879	HNF1A	M		c.(790-792)Gtc>Atc		HNF1 homeobox A							41.0	39.0	40.0					12																	121432043		2203	4300	6503	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121432043G>A	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.790G>A	12.37:g.121432043G>A	ENSP00000257555:p.Val264Ile					HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Missense_Mutation_p.V264I|HNF1A_ENST00000544413.1_Missense_Mutation_p.V264I|HNF1A_ENST00000543427.1_Missense_Mutation_p.V147I|HNF1A_ENST00000402929.1_Missense_Mutation_p.V264I|HNF1A_ENST00000541395.1_Missense_Mutation_p.V264I	p.V264I			P20823	HNF1A_HUMAN			4	1016	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		264			Interaction with DNA.		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.790G>A	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389408	0.95988	.	.	ENSG00000135100	ENST00000257555;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52	4.84	4.84	0.62591	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000015	D	0.97520	0.9188	M	0.72894	2.215	0.80722	D	1	P;P;P;B	0.50443	0.935;0.765;0.9;0.361	P;P;P;B	0.48795	0.578;0.59;0.559;0.173	D	0.98393	1.0564	10	0.87932	D	0	-33.9347	16.9721	0.86303	0.0:0.0:1.0:0.0	.	264;264;264;264	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	I	264;264;264;264;147;264;264;264;264;264	ENSP00000257555:V264I;ENSP00000439721:V147I;ENSP00000443112:V264I;ENSP00000438804:V264I	ENSP00000257555:V264I	V	+	1	0	HNF1A	119916426	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.387000	0.97232	2.245000	0.73994	0.409000	0.27619	GTC		0.647	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		16	28	0	0	0	1	0	16	28				
CAMSAP2	23271	broad.mit.edu	37	1	200818427	200818427	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:200818427C>T	ENST00000236925.4	+	12	2612	c.2563C>T	c.(2563-2565)Cct>Tct	p.P855S	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P828S|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.P844S			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	855					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CATGGAGAATCCTCAAGCCAA	0.413																																						ENST00000358823.2																			0											c.(2530-2532)Cct>Tct		calmodulin regulated spectrin-associated protein family, member 2							97.0	105.0	102.0					1																	200818427		2201	4299	6500	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200818427C>T	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2563C>T	1.37:g.200818427C>T	ENSP00000236925:p.Pro855Ser					CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P828S|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P855S	p.P844S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	2800	+			855					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.2530C>T		.	.	.	.	.	.	.	.	.	.	C	0.007	-2.012918	0.00422	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14022	2.56;2.55;2.54	5.59	1.03	0.20045	.	0.882858	0.10393	N	0.680132	T	0.05777	0.0151	N	0.12746	0.255	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.13407	0.007;0.003;0.009	T	0.44967	-0.9293	10	0.12103	T	0.63	-7.1804	2.7144	0.05183	0.1081:0.4259:0.2123:0.2538	.	828;855;844	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	844;828;855	ENSP00000351684:P844S;ENSP00000416800:P828S;ENSP00000236925:P855S	ENSP00000236925:P855S	P	+	1	0	CAMSAP1L1	199085050	0.020000	0.18652	0.002000	0.10522	0.343000	0.28985	0.307000	0.19296	0.306000	0.22856	-0.339000	0.08088	CCT		0.413	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		41	230	0	0	0	1	0	41	230				
COX10-AS1	100874058	broad.mit.edu	37	17	13927814	13927814	+	RNA	SNP	A	A	T	rs141406384		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:13927814A>T	ENST00000602743.1	-	0	224									COX10 antisense RNA 1																		TTGGTGGGAGACGCTCAAGAG	0.512																																						ENST00000602743.1																			0																																																			100874058							g.chr17:13927814A>T			17p12	2013-05-22	2012-08-15	2010-11-25	ENSG00000236088	ENSG00000236088		"""Long non-coding RNAs"""	38873	non-coding RNA	RNA, long non-coding			"""COX10 antisense RNA (non-protein coding)"", ""COX10 antisense RNA 1 (non-protein coding)"""	COX10AS, COX10-AS			Standard	NR_049718		Approved		uc002goe.1		OTTHUMG00000058771		17.37:g.13927814A>T														0	224	-									RNA	SNP	ENST00000602743.1	37																																																																																						0.512	COX10-AS1-005	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000467585.1			5	16	0	0	0	1	0	5	16				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262047	39262047	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:39262047A>G	ENST00000391415.1	+	1	464	c.407A>G	c.(406-408)aAg>aGg	p.K136R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	136	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						agctgctgcaagccccagtgc	0.652																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(406-408)aAg>aGg		keratin associated protein 4-9							5.0	11.0	9.0					17																	39262047		641	1516	2157	SO:0001583	missense	100132386					keratin filament		g.chr17:39262047A>G	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.407A>G	17.37:g.39262047A>G	ENSP00000375234:p.Lys136Arg						p.K136R	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	464	+			136			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.407A>G	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	0.037	-1.300357	0.01364	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.18657	2.2	2.79	-1.86	0.07760	.	0.545403	0.13007	N	0.421236	T	0.03053	0.0090	N	0.00107	-2.115	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45086	-0.9285	10	0.07644	T	0.81	.	7.5488	0.27783	0.4766:0.0:0.5234:0.0	.	136	Q9BYQ8	KRA49_HUMAN	R	124;136;127	ENSP00000375234:K136R	ENSP00000334461:K127R	K	+	2	0	KRTAP4-9	36515573	0.025000	0.19082	0.001000	0.08648	0.082000	0.17680	0.008000	0.13197	-0.213000	0.10094	-0.814000	0.03130	AAG		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	50	0	0	0	1	0	4	50				
DGCR8	54487	broad.mit.edu	37	22	20074734	20074734	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr22:20074734C>T	ENST00000351989.3	+	3	1199	c.770C>T	c.(769-771)gCc>gTc	p.A257V	MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.A257V|DGCR8_ENST00000383024.2_Missense_Mutation_p.A257V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	257	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGCCTTTGTGCCCCCAAAAAG	0.527																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(769-771)gCc>gTc		DGCR8 microprocessor complex subunit							151.0	134.0	140.0					22																	20074734		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074734C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.770C>T	22.37:g.20074734C>T	ENSP00000263209:p.Ala257Val					DGCR8_ENST00000407755.1_Missense_Mutation_p.A257V|DGCR8_ENST00000383024.2_Missense_Mutation_p.A257V	p.A257V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			3	1199	+	Colorectal(54;0.0993)		257			Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.770C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253054	0.59212	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.29655	1.56;1.57;1.57	6.04	6.04	0.98038	.	0.219343	0.48286	D	0.000181	T	0.20700	0.0498	N	0.16478	0.41	0.42428	D	0.99266	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.06734	-1.0810	10	0.25106	T	0.35	-11.4139	14.3603	0.66766	0.0:0.9291:0.0:0.0709	.	257;257	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	V	257	ENSP00000263209:A257V;ENSP00000372488:A257V;ENSP00000384726:A257V	ENSP00000263209:A257V	A	+	2	0	DGCR8	18454734	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.303000	0.59098	2.873000	0.98535	0.561000	0.74099	GCC		0.527	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			5	229	0	0	0	1	0	5	229				
TRBC2	28638	broad.mit.edu	37	7	142499875	142499875	+	RNA	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:142499875G>A	ENST00000466254.1	+	0	492							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											GCTGGTCAGTGCCCTCGTGCT	0.552																																						ENST00000466254.1																			0																				91.0	88.0	89.0					7																	142499875		2135	4236	6371			28638							g.chr7:142499875G>A	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142499875G>A														0	492	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.552	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		8	74	0	0	0	1	0	8	74				
LYG2	254773	broad.mit.edu	37	2	99863255	99863255	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:99863255A>C	ENST00000409238.1	-	2	92	c.72T>G	c.(70-72)agT>agG	p.S24R	LYG2_ENST00000333017.2_Missense_Mutation_p.S24R|LYG2_ENST00000409679.1_Missense_Mutation_p.S24R|LYG2_ENST00000423800.1_Missense_Mutation_p.S24R			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	24					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TCATTGAGTGACTGAAGGGGT	0.502																																						ENST00000409679.1																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						c.(70-72)agT>agG		lysozyme G-like 2							154.0	131.0	139.0					2																	99863255		2203	4300	6503	SO:0001583	missense	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99863255A>C	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.72T>G	2.37:g.99863255A>C	ENSP00000386939:p.Ser24Arg					LYG2_ENST00000333017.2_Missense_Mutation_p.S24R|LYG2_ENST00000409238.1_Missense_Mutation_p.S24R	p.S24R			Q86SG7	LYG2_HUMAN			3	216	-			24					Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	c.72T>G	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500362	0.26861	.	.	ENSG00000185674	ENST00000409238;ENST00000333017;ENST00000409679;ENST00000423306	.	.	.	5.27	-10.5	0.00291	.	0.817584	0.10730	N	0.640778	T	0.17577	0.0422	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.05733	-1.0867	8	.	.	.	-0.3842	4.5673	0.12193	0.2701:0.2596:0.385:0.0853	.	24;24;24	Q496G2;C9J4J0;Q86SG7	.;.;LYG2_HUMAN	R	24	.	.	S	-	3	2	LYG2	99229687	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.782000	0.01772	-2.838000	0.00336	-1.545000	0.00906	AGT		0.502	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		39	127	0	0	0	1	0	39	127				
BRIP1	83990	broad.mit.edu	37	17	59821801	59821801	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:59821801C>A	ENST00000259008.2	-	15	2516	c.2249G>T	c.(2248-2250)gGa>gTa	p.G750V	BRIP1_ENST00000577598.1_Missense_Mutation_p.G750V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	750					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACCTTTCTCTCCTTTGTATTT	0.308			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(2248-2250)gGa>gTa	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							151.0	152.0	152.0					17																	59821801		2203	4300	6503	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59821801C>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2249G>T	17.37:g.59821801C>A	ENSP00000259008:p.Gly750Val					BRIP1_ENST00000577598.1_Missense_Mutation_p.G750V	p.G750V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			15	2516	-			750					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.2249G>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834687	0.32421	.	.	ENSG00000136492	ENST00000259008	T	0.77489	-1.1	5.67	5.67	0.87782	Helicase, ATP-dependent, c2 type (1);	0.177763	0.49916	D	0.000134	D	0.86732	0.6003	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.984;0.99	D	0.85360	0.1107	9	.	.	.	-20.7629	18.7509	0.91814	0.0:1.0:0.0:0.0	.	750;750	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	V	750	ENSP00000259008:G750V	.	G	-	2	0	BRIP1	57176583	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.523000	0.53488	2.661000	0.90470	0.460000	0.39030	GGA		0.308	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		44	207	1	0	4.29476e-34	1	4.99705e-34	44	207				
LRP12	29967	broad.mit.edu	37	8	105509897	105509897	+	Missense_Mutation	SNP	G	G	T	rs201704104		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:105509897G>T	ENST00000276654.5	-	5	991	c.883C>A	c.(883-885)Cgt>Agt	p.R295S	LRP12_ENST00000424843.2_Missense_Mutation_p.R276S|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	295	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATGACTTTACGGTGATCACCA	0.358																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(883-885)Cgt>Agt		low density lipoprotein receptor-related protein 12							68.0	69.0	68.0					8																	105509897		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509897G>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.883C>A	8.37:g.105509897G>T	ENSP00000276654:p.Arg295Ser					LRP12_ENST00000424843.2_Missense_Mutation_p.R276S	p.R295S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	991	-			295			CUB 2.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.883C>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338667	0.60963	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.27104	1.69;1.69	5.53	5.53	0.82687	CUB (5);	0.049815	0.85682	D	0.000000	T	0.29783	0.0744	L	0.33245	0.995	0.80722	D	1	P;P	0.47409	0.872;0.895	B;P	0.48400	0.441;0.576	T	0.00948	-1.1504	10	0.22706	T	0.39	-21.7968	19.4757	0.94987	0.0:0.0:1.0:0.0	.	276;295	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	S	276;295	ENSP00000399148:R276S;ENSP00000276654:R295S	ENSP00000276654:R295S	R	-	1	0	LRP12	105579073	1.000000	0.71417	0.993000	0.49108	0.919000	0.55068	5.137000	0.64789	2.601000	0.87937	0.467000	0.42956	CGT		0.358	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		10	122	1	0	3.86212e-05	1	4.03668e-05	10	122				
SRRT	51593	broad.mit.edu	37	7	100479790	100479790	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:100479790A>G	ENST00000347433.4	+	5	673	c.515A>G	c.(514-516)tAt>tGt	p.Y172C	SRRT_ENST00000432932.1_Missense_Mutation_p.Y172C|SRRT_ENST00000457580.2_Missense_Mutation_p.Y172C|SRRT_ENST00000388793.4_Missense_Mutation_p.Y172C			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	172					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTCAAGCGCTATAATGACTAC	0.557																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(514-516)tAt>tGt		serrate RNA effector molecule homolog (Arabidopsis)							133.0	113.0	120.0					7																	100479790		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479790A>G		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.515A>G	7.37:g.100479790A>G	ENSP00000314491:p.Tyr172Cys					SRRT_ENST00000347433.4_Missense_Mutation_p.Y172C|SRRT_ENST00000432932.1_Missense_Mutation_p.Y172C|SRRT_ENST00000457580.2_Missense_Mutation_p.Y172C	p.Y172C	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			5	735	+			172					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.515A>G	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.309684	0.23821	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000539682;ENST00000432932;ENST00000347433	.	.	.	4.59	3.44	0.39384	.	0.000000	0.64402	D	0.000003	T	0.61924	0.2386	M	0.85945	2.785	0.80722	D	1	B;B;B;B	0.32543	0.324;0.324;0.324;0.375	B;B;B;B	0.29862	0.065;0.065;0.065;0.108	T	0.63418	-0.6642	9	0.66056	D	0.02	.	8.2077	0.31465	0.9028:0.0:0.0972:0.0	.	172;172;172;172	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	C	172;172;87;172;172	.	ENSP00000314491:Y172C	Y	+	2	0	SRRT	100317726	1.000000	0.71417	0.952000	0.39060	0.004000	0.04260	8.830000	0.92063	0.776000	0.33473	-0.371000	0.07208	TAT		0.557	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		16	125	0	0	0	1	0	16	125				
HHATL	57467	broad.mit.edu	37	3	42739102	42739102	+	Missense_Mutation	SNP	C	C	T	rs140686107		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:42739102C>T	ENST00000441594.1	-	7	1024	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	HHATL_ENST00000310417.5_Missense_Mutation_p.V255M	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	255					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)		ATGGCCACCACGCTTAGGCCT	0.612																																						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.(763-765)Gtg>Atg		hedgehog acyltransferase-like		C	MET/VAL	0,4406		0,0,2203	117.0	108.0	111.0		763	4.1	1.0	3	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense	HHATL	NM_020707.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	255/505	42739102	1,13005	2203	4300	6503	SO:0001583	missense	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42739102C>T	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.763G>A	3.37:g.42739102C>T	ENSP00000405423:p.Val255Met					HHATL_ENST00000310417.5_Missense_Mutation_p.V255M	p.V255M	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	7	1024	-			255					Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	c.763G>A	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	c	11.77	1.738495	0.30774	0.0	1.16E-4	ENSG00000010282	ENST00000310417;ENST00000441594;ENST00000341477;ENST00000457462	T;T;D	0.88975	-1.02;-1.02;-2.45	4.99	4.09	0.47781	.	0.416889	0.27340	N	0.019803	D	0.85767	0.5773	L	0.36672	1.1	0.30427	N	0.77752	P	0.44734	0.842	B	0.43838	0.433	D	0.85326	0.1087	10	0.51188	T	0.08	-14.8585	16.0669	0.80891	0.0:0.8103:0.1897:0.0	.	255	Q9HCP6	HHATL_HUMAN	M	255;255;164;190	ENSP00000310621:V255M;ENSP00000405423:V255M;ENSP00000403787:V190M	ENSP00000310621:V255M	V	-	1	0	HHATL	42714106	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	1.593000	0.36686	2.601000	0.87937	0.558000	0.71614	GTG		0.612	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		25	172	0	0	0	1	0	25	172				
PKN2	5586	broad.mit.edu	37	1	89298809	89298809	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:89298809C>T	ENST00000370521.3	+	21	3079	c.2720C>T	c.(2719-2721)gCa>gTa	p.A907V	PKN2_ENST00000495119.1_3'UTR|PKN2_ENST00000544045.1_Missense_Mutation_p.A581V|PKN2_ENST00000370505.3_Missense_Mutation_p.A750V|PKN2_ENST00000370513.5_Missense_Mutation_p.A859V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	907	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GAGAAAGATGCAGAGGATGTA	0.318																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(2719-2721)gCa>gTa		protein kinase N2							60.0	60.0	60.0					1																	89298809		1803	4064	5867	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89298809C>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2720C>T	1.37:g.89298809C>T	ENSP00000359552:p.Ala907Val					PKN2_ENST00000370505.3_Missense_Mutation_p.A750V|PKN2_ENST00000544045.1_Missense_Mutation_p.A581V|PKN2_ENST00000370513.5_Missense_Mutation_p.A859V|PKN2_ENST00000495119.1_3'UTR	p.A907V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	21	3079	+		Lung NSC(277;0.123)	907			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2720C>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871575	0.91587	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.62	5.62	0.85841	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	0.44688	U	0.000431	T	0.53190	0.1781	L	0.28556	0.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.58211	-0.7676	10	0.87932	D	0	.	19.6544	0.95831	0.0:1.0:0.0:0.0	.	891;859;907	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	V	907;750;859;581	ENSP00000359552:A907V;ENSP00000359536:A750V;ENSP00000359544:A859V;ENSP00000439643:A581V	ENSP00000359536:A750V	A	+	2	0	PKN2	89071397	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.487000	0.81328	2.647000	0.89833	0.467000	0.42956	GCA		0.318	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		8	42	0	0	0	1	0	8	42				
OPA1	4976	broad.mit.edu	37	3	193343972	193343972	+	Intron	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:193343972A>G	ENST00000392438.3	+	6	858				OPA1_ENST00000361150.2_Missense_Mutation_p.Y203C|OPA1_ENST00000361715.2_Missense_Mutation_p.Y221C|OPA1_ENST00000487986.1_Intron|OPA1-AS1_ENST00000444085.1_RNA|Y_RNA_ENST00000384640.1_RNA|OPA1_ENST00000361510.2_Missense_Mutation_p.Y257C|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000361828.2_Intron|OPA1_ENST00000361908.3_Missense_Mutation_p.Y239C	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AGCACGAGCTATGCCCAACAG	0.493																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(769-771)tAt>tGt		optic atrophy 1 (autosomal dominant)							63.0	62.0	63.0					3																	193343972		2203	4300	6503	SO:0001627	intron_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193343972A>G	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.625-5429A>G	3.37:g.193343972A>G						OPA1_ENST00000361908.3_Missense_Mutation_p.Y239C|OPA1_ENST00000361150.2_Missense_Mutation_p.Y203C|OPA1-AS1_ENST00000444085.1_RNA|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000361715.2_Missense_Mutation_p.Y221C|OPA1_ENST00000392438.3_Intron|OPA1_ENST00000487986.1_Intron|OPA1_ENST00000361828.2_Intron	p.Y257C	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	7	1004	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		206					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.770A>G	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088785	0.36855	.	.	ENSG00000198836	ENST00000361908;ENST00000361510;ENST00000361715;ENST00000361150	D;D;D;D	0.94793	-3.1;-3.14;-3.11;-3.52	5.59	5.59	0.84812	.	0.879393	0.10172	N	0.706985	D	0.90297	0.6965	L	0.36672	1.1	0.25105	N	0.990757	P;P;P;P	0.39576	0.598;0.654;0.679;0.598	B;B;B;B	0.34722	0.024;0.054;0.187;0.188	T	0.83062	-0.0147	10	0.36615	T	0.2	-7.8354	10.7208	0.46040	0.7317:0.2683:0.0:0.0	.	203;239;221;257	E5KLK1;E5KLJ7;E5KLJ9;E5KLJ5	.;.;.;.	C	239;257;221;203	ENSP00000354681:Y239C;ENSP00000355324:Y257C;ENSP00000355311:Y221C;ENSP00000354781:Y203C	ENSP00000354781:Y203C	Y	+	2	0	OPA1	194826666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.178000	0.50879	2.145000	0.66743	0.482000	0.46254	TAT		0.493	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		30	90	0	0	0	1	0	30	90				
SMPDL3A	10924	broad.mit.edu	37	6	123130244	123130244	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:123130244G>T	ENST00000368440.4	+	8	1230	c.1053G>T	c.(1051-1053)ttG>ttT	p.L351F	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.L220F	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	351					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AGGATATGTTGCAGTATTACT	0.413																																						ENST00000368440.4																			0				breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(1051-1053)ttG>ttT		sphingomyelin phosphodiesterase, acid-like 3A							99.0	101.0	100.0					6																	123130244		2203	4300	6503	SO:0001583	missense	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123130244G>T	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.1053G>T	6.37:g.123130244G>T	ENSP00000357425:p.Leu351Phe					SMPDL3A_ENST00000539041.1_Missense_Mutation_p.L220F	p.L351F	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	8	1230	+			351					B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	c.1053G>T	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	G	8.361	0.833159	0.16820	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.89270	-2.49;-2.49	5.92	3.13	0.36017	.	0.244558	0.43579	N	0.000541	T	0.68393	0.2996	L	0.48362	1.52	0.33984	D	0.648322	B	0.09022	0.002	B	0.09377	0.004	T	0.51585	-0.8687	10	0.10111	T	0.7	-2.5037	8.0688	0.30676	0.1238:0.0:0.6482:0.2279	.	351	Q92484	ASM3A_HUMAN	F	351;220	ENSP00000357425:L351F;ENSP00000442152:L220F	ENSP00000357425:L351F	L	+	3	2	SMPDL3A	123171943	1.000000	0.71417	0.996000	0.52242	0.890000	0.51754	4.411000	0.59781	0.381000	0.24851	0.561000	0.74099	TTG		0.413	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		17	127	1	0	5.3912e-06	1	5.69927e-06	17	127				
LILRA4	23547	broad.mit.edu	37	19	54848719	54848719	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:54848719A>G	ENST00000291759.4	-	5	960	c.904T>C	c.(904-906)Tcc>Ccc	p.S302P	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	302	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACTCGGAGGAGACGTTGTGT	0.682																																						ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(904-906)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							32.0	33.0	33.0					19																	54848719		2203	4299	6502	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848719A>G	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.904T>C	19.37:g.54848719A>G	ENSP00000291759:p.Ser302Pro						p.S302P	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	960	-	Ovarian(34;0.19)		302			Ig-like C2-type 3.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.904T>C	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	14.09	2.431784	0.43122	.	.	ENSG00000239961	ENST00000291759	T	0.12465	2.68	2.51	2.51	0.30379	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.689823	0.12026	N	0.506389	T	0.32882	0.0844	M	0.77616	2.38	0.09310	N	1	P	0.45672	0.864	D	0.63381	0.914	T	0.04347	-1.0958	10	0.56958	D	0.05	.	6.8994	0.24275	1.0:0.0:0.0:0.0	.	302	P59901	LIRA4_HUMAN	P	302	ENSP00000291759:S302P	ENSP00000291759:S302P	S	-	1	0	LILRA4	59540531	0.002000	0.14202	0.182000	0.23118	0.058000	0.15608	0.254000	0.18314	1.403000	0.46800	0.374000	0.22700	TCC		0.682	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		20	78	0	0	0	1	0	20	78				
IPO9	55705	broad.mit.edu	37	1	201817629	201817629	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:201817629C>A	ENST00000361565.4	+	4	490	c.421C>A	c.(421-423)Cct>Act	p.P141T	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	141					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTGGGACTGGCCTGAAGCTTG	0.542																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(421-423)Cct>Act		importin 9							131.0	106.0	115.0					1																	201817629		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201817629C>A	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.421C>A	1.37:g.201817629C>A	ENSP00000354742:p.Pro141Thr					IPO9_ENST00000464348.1_3'UTR	p.P141T	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			4	490	+			141					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.421C>A	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235612	0.95240	.	.	ENSG00000198700	ENST00000361565	T	0.74209	-0.82	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.096556	0.85682	D	0.000000	D	0.84929	0.5581	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.85340	0.1095	10	0.87932	D	0	-4.7204	18.0409	0.89318	0.0:1.0:0.0:0.0	.	141	Q96P70	IPO9_HUMAN	T	141	ENSP00000354742:P141T	ENSP00000354742:P141T	P	+	1	0	IPO9	200084252	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.733000	0.84916	2.850000	0.98022	0.650000	0.86243	CCT		0.542	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		16	85	1	0	2.32078e-09	1	2.55563e-09	16	85				
RIOK2	55781	broad.mit.edu	37	5	96518925	96518925	+	5'UTR	SNP	T	T	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:96518925T>A	ENST00000283109.3	-	0	39				RIOK2_ENST00000508447.1_5'UTR|RP11-155G15.2_ENST00000504578.1_RNA|CTD-2215E18.1_ENST00000509481.1_Silent_p.S82S	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CAGATGCCTCTCCGACGACAG	0.582																																						ENST00000509481.1																			0				urinary_tract(1)	1						c.(244-246)tcT>tcA									70.0	70.0	70.0					5																	96518925		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55781							g.chr5:96518925T>A	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.-30A>T	5.37:g.96518925T>A						RIOK2_ENST00000283109.3_5'UTR|RIOK2_ENST00000508447.1_5'UTR	p.S82S							4	787	+								D6RDI3|Q9NUT0	Silent	SNP	ENST00000283109.3	37	c.246T>A	CCDS4089.1																																																																																				0.582	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		60	169	0	0	0	1	0	60	169				
HPSE	10855	broad.mit.edu	37	4	84216583	84216583	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:84216583G>C	ENST00000405413.2	-	13	1682	c.1546C>G	c.(1546-1548)Ctc>Gtc	p.L516V	HPSE_ENST00000311412.5_Missense_Mutation_p.L516V|HPSE_ENST00000513463.1_Missense_Mutation_p.L458V|HPSE_ENST00000512196.1_Missense_Mutation_p.L442V	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	516					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	CCTGGCCGGAGAGGTTTTTCC	0.403																																						ENST00000405413.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(1546-1548)Ctc>Gtc		heparanase	Heparin(DB01109)						98.0	99.0	98.0					4																	84216583		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84216583G>C	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1546C>G	4.37:g.84216583G>C	ENSP00000384262:p.Leu516Val					HPSE_ENST00000311412.5_Missense_Mutation_p.L516V|HPSE_ENST00000512196.1_Missense_Mutation_p.L442V|HPSE_ENST00000513463.1_Missense_Mutation_p.L458V	p.L516V	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	13	1682	-		Hepatocellular(203;0.114)	516					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1546C>G	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053058	0.55218	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.43688	0.94;0.94;1.01;0.98	5.39	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	L	0.39245	1.2	0.58432	D	0.999991	D;D;D;D	0.89917	0.982;1.0;1.0;1.0	D;D;D;D	0.91635	0.952;0.997;0.999;0.997	T	0.41197	-0.9522	10	0.09084	T	0.74	-16.6435	13.0253	0.58812	0.0786:0.0:0.9214:0.0	.	442;458;458;516	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	V	516;516;442;458	ENSP00000308107:L516V;ENSP00000384262:L516V;ENSP00000423265:L442V;ENSP00000421365:L458V	ENSP00000308107:L516V	L	-	1	0	HPSE	84435607	1.000000	0.71417	0.998000	0.56505	0.608000	0.37181	3.439000	0.52878	1.503000	0.48686	0.467000	0.42956	CTC		0.403	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		15	100	0	0	0	1	0	15	100				
SLC26A7	115111	broad.mit.edu	37	8	92365191	92365191	+	Missense_Mutation	SNP	A	A	T	rs562708766	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:92365191A>T	ENST00000276609.3	+	11	1520	c.1281A>T	c.(1279-1281)ttA>ttT	p.L427F	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.L427F|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L427F	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCGAGATTTAAAAAAATATT	0.328																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1279-1281)ttA>ttT		solute carrier family 26 (anion exchanger), member 7							101.0	107.0	105.0					8																	92365191		2203	4298	6501	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92365191A>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1281A>T	8.37:g.92365191A>T	ENSP00000276609:p.Leu427Phe					SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L427F|SLC26A7_ENST00000523719.1_Missense_Mutation_p.L427F	p.L427F	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		11	1520	+			427						Missense_Mutation	SNP	ENST00000276609.3	37	c.1281A>T	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.588030	0.66105	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.94046	-3.34;-3.34;-3.34	4.78	4.78	0.61160	Sulphate transporter (1);	0.000000	0.47852	D	0.000204	D	0.93641	0.7969	L	0.39514	1.22	0.34684	D	0.725017	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94453	0.7669	10	0.48119	T	0.1	.	7.3235	0.26542	0.8296:0.0:0.1704:0.0	.	427;427	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	F	427	ENSP00000428849:L427F;ENSP00000276609:L427F;ENSP00000309504:L427F	ENSP00000276609:L427F	L	+	3	2	SLC26A7	92434367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.094000	0.41719	1.915000	0.55452	0.377000	0.23210	TTA		0.328	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			15	160	0	0	0	1	0	15	160				
TNK2	10188	broad.mit.edu	37	3	195595233	195595233	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:195595233G>C	ENST00000333602.6	-	12	2508	c.1891C>G	c.(1891-1893)Ccc>Gcc	p.P631A	TNK2_ENST00000428187.1_Missense_Mutation_p.P663A|TNK2_ENST00000392400.1_Missense_Mutation_p.P631A|TNK2_ENST00000381916.2_Missense_Mutation_p.P709A	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	631	Pro-rich.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCGGGCGGGGGGGGCAGCGGG	0.726																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1891-1893)Ccc>Gcc		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						18.0	25.0	23.0					3																	195595233		1978	4110	6088	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595233G>C	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1891C>G	3.37:g.195595233G>C	ENSP00000329425:p.Pro631Ala					TNK2_ENST00000428187.1_Missense_Mutation_p.P663A|TNK2_ENST00000392400.1_Missense_Mutation_p.P631A|TNK2_ENST00000381916.2_Missense_Mutation_p.P709A	p.P631A	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2508	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	631	Missing (in Ref. 4; AAH08884).		Pro-rich.|Required for interaction with SRC.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.1891C>G	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	9.375	1.071394	0.20147	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.53	5.53	0.82687	.	0.058860	0.64402	D	0.000002	T	0.56601	0.1996	N	0.19112	0.55	0.80722	D	1	B;P;B;P	0.42827	0.326;0.547;0.142;0.791	B;B;B;P	0.49752	0.113;0.28;0.094;0.621	T	0.54139	-0.8338	10	0.30854	T	0.27	.	13.732	0.62794	0.0:0.1545:0.8455:0.0	.	631;709;663;156	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	A	631;709;198;663;631	ENSP00000329425:P631A;ENSP00000371341:P709A;ENSP00000398614:P198A;ENSP00000392546:P663A;ENSP00000376201:P631A	ENSP00000329425:P631A	P	-	1	0	TNK2	197079630	1.000000	0.71417	0.991000	0.47740	0.041000	0.13682	5.817000	0.69229	2.599000	0.87857	0.586000	0.80456	CCC		0.726	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		17	109	0	0	0	1	0	17	109				
KLHL22	84861	broad.mit.edu	37	22	20843369	20843369	+	Silent	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr22:20843369G>T	ENST00000328879.4	-	2	286	c.130C>A	c.(130-132)Cgg>Agg	p.R44R	KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	44					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCGCTGTCCCGGAGAGCCAGC	0.622																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(130-132)Cgg>Agg		kelch-like family member 22							98.0	81.0	87.0					22																	20843369		2203	4300	6503	SO:0001819	synonymous_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20843369G>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.130C>A	22.37:g.20843369G>T						KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	p.R44R	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		2	286	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	44					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	c.130C>A	CCDS13780.1																																																																																				0.622	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		4	157	1	0	0.00909568	1	0.00919509	4	157				
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs376870088		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196									tubulin, beta pseudogene 5									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687																																						ENST00000503395.1																			1	Substitution - Missense(1)	p.R77H(1)	urinary_tract(1)																																																643224							g.chr9:141070116G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070116G>A														0	1196	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.687	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	165	0	0	0	1	0	4	165				
SNRPD2	6633	broad.mit.edu	37	19	46191786	46191786	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:46191786T>G	ENST00000342669.3	-	2	485	c.41A>C	c.(40-42)gAg>gCg	p.E14A	SNRPD2_ENST00000587367.1_Missense_Mutation_p.E4A|SNRPD2_ENST00000590212.1_Missense_Mutation_p.E14A|SNRPD2_ENST00000588301.1_Missense_Mutation_p.E14A|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000588599.1_Missense_Mutation_p.E4A|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E4A	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	14					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CTGCAGCTCCTCTGGGGTCAT	0.532																																						ENST00000342669.3																			0				breast(1)|large_intestine(1)|lung(2)	4						c.(40-42)gAg>gCg		small nuclear ribonucleoprotein D2 polypeptide 16.5kDa							194.0	154.0	167.0					19																	46191786		2203	4300	6503	SO:0001583	missense	6633				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding	g.chr19:46191786T>G		CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.41A>C	19.37:g.46191786T>G	ENSP00000342374:p.Glu14Ala					SNRPD2_ENST00000590212.1_Missense_Mutation_p.E14A|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000588599.1_Missense_Mutation_p.E4A|SNRPD2_ENST00000588301.1_Missense_Mutation_p.E14A|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E4A|SNRPD2_ENST00000587367.1_Missense_Mutation_p.E4A	p.E14A	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)	2	485	-		Ovarian(192;0.051)|all_neural(266;0.112)	14					A8K797|J3KPM5|P43330	Missense_Mutation	SNP	ENST00000342669.3	37	c.41A>C	CCDS33053.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.345771	0.61073	.	.	ENSG00000125743	ENST00000342669;ENST00000391932	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	L	0.38175	1.15	0.80722	D	1	B	0.27853	0.191	B	0.29663	0.105	T	0.42344	-0.9457	9	0.27082	T	0.32	.	14.1824	0.65583	0.0:0.0:0.0:1.0	.	14	P62316	SMD2_HUMAN	A	14;4	.	ENSP00000342374:E14A	E	-	2	0	SNRPD2	50883626	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.347000	0.79356	2.233000	0.73108	0.533000	0.62120	GAG		0.532	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459648.1	NM_004597		25	188	0	0	0	1	0	25	188				
CHAF1B	8208	broad.mit.edu	37	21	37788586	37788586	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:37788586C>T	ENST00000314103.5	+	14	1753	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	534					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGCCTGGAGACGCTCAGGGCA	0.507																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(1600-1602)gaC>gaT		chromatin assembly factor 1, subunit B (p60)							50.0	51.0	51.0					21																	37788586		2203	4300	6503	SO:0001819	synonymous_variant	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37788586C>T	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1602C>T	21.37:g.37788586C>T							p.D534D	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			14	1753	+			534					Q99548	Silent	SNP	ENST00000314103.5	37	c.1602C>T	CCDS13644.1																																																																																				0.507	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		9	62	0	0	0	1	0	9	62				
PCDHA12	56137	broad.mit.edu	37	5	140255327	140255327	+	Silent	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:140255327C>A	ENST00000398631.2	+	1	270	c.270C>A	c.(268-270)atC>atA	p.I90I	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	90	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGA	0.597																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(268-270)atC>atA									107.0	124.0	118.0					5																	140255327		2203	4299	6502	SO:0001819	synonymous_variant	56137							g.chr5:140255327C>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.270C>A	5.37:g.140255327C>A						PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.I90I	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	270	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.270C>A	CCDS47285.1																																																																																				0.597	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		65	408	1	0	1.1794e-34	1	1.38095e-34	65	408				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419783.1_Missense_Mutation_p.P77R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C						GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		3	44	0	0	0	1	0	3	44				
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	rs564572858		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22065	0.0		0.0	False		,,,				2504	0.001					ENST00000307033.2																			1	Substitution - Missense(1)	p.V271I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(811-813)Gtc>Atc		olfactory receptor, family 4, subfamily D, member 5							161.0	131.0	141.0					11																	123811134		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811134G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.811G>A	11.37:g.123811134G>A	ENSP00000305970:p.Val271Ile						p.V271I	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	885	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	271					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.811G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	8.169	0.791230	0.16258	.	.	ENSG00000171014	ENST00000307033	T	0.36878	1.23	5.49	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000538	T	0.25344	0.0616	L	0.37850	1.14	0.09310	N	1	B	0.14438	0.01	B	0.24006	0.05	T	0.16394	-1.0404	10	0.29301	T	0.29	-13.4657	7.0729	0.25189	0.1492:0.2545:0.5963:0.0	.	271	Q8NGN0	OR4D5_HUMAN	I	271	ENSP00000305970:V271I	ENSP00000305970:V271I	V	+	1	0	OR4D5	123316344	0.000000	0.05858	0.168000	0.22838	0.830000	0.47004	0.194000	0.17135	0.658000	0.30925	0.650000	0.86243	GTC		0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		45	97	0	0	0	1	0	45	97				
MARCH3	115123	broad.mit.edu	37	5	126250611	126250611	+	Intron	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:126250611C>T	ENST00000308660.5	-	3	908				MARCH3_ENST00000502289.1_5'Flank|MARCH3_ENST00000515241.1_Nonsense_Mutation_p.W135*	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase						endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		GGACGTGCCCCACTTACTGAC	0.493																																						ENST00000515241.1																			0				large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(403-405)tGg>tAg		membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase							69.0	61.0	64.0					5																	126250611		2203	4300	6503	SO:0001627	intron_variant	115123				endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	g.chr5:126250611C>T	AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28728	protein-coding gene	gene with protein product		613333	"""membrane-associated ring finger (C3HC4) 3"""			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.393+10G>A	5.37:g.126250611C>T						MARCH3_ENST00000308660.5_Intron	p.W135*			Q86UD3	MARH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)	2	460	-		Prostate(80;0.0928)	76					A8K264|B9EJE7	Nonsense_Mutation	SNP	ENST00000308660.5	37	c.404G>A	CCDS4141.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902164	0.72754	.	.	ENSG00000173926	ENST00000515241	.	.	.	4.67	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.28117	N	0.930757	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7219	0.57147	0.0:0.9174:0.0:0.0826	.	.	.	.	X	135	.	ENSP00000421979:W135X	W	-	2	0	MARCH3	126278510	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	3.168000	0.50801	1.581000	0.49865	0.655000	0.94253	TGG		0.493	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250955.2	NM_178450		16	72	0	0	0	1	0	16	72				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	23	1	0	0.00909568	1	0.00919509	4	23				
ITGB4	3691	broad.mit.edu	37	17	73725497	73725497	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:73725497C>T	ENST00000200181.3	+	7	905	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	ITGB4_ENST00000450894.3_Silent_p.L240L|ITGB4_ENST00000339591.3_Silent_p.L240L|ITGB4_ENST00000579662.1_Silent_p.L240L|ITGB4_ENST00000449880.2_Silent_p.L240L|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	240	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGATGCCATCCTGCAGACAGC	0.622																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(718-720)Ctg>Ttg		integrin, beta 4							63.0	58.0	59.0					17																	73725497		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73725497C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.718C>T	17.37:g.73725497C>T						ITGB4_ENST00000449880.2_Silent_p.L240L|ITGB4_ENST00000339591.3_Silent_p.L240L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.L240L|ITGB4_ENST00000450894.3_Silent_p.L240L	p.L240L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	905	+	all_cancers(13;1.5e-07)		240			VWFA.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.718C>T	CCDS11727.1																																																																																				0.622	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			23	48	0	0	0	1	0	23	48				
TNMD	64102	broad.mit.edu	37	X	99852545	99852545	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:99852545G>C	ENST00000373031.4	+	5	685	c.468G>C	c.(466-468)tgG>tgC	p.W156C		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	156	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CAGTGATTTGGGTCCCAGCAG	0.373																																						ENST00000373031.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						c.(466-468)tgG>tgC		tenomodulin							76.0	71.0	72.0					X																	99852545		2203	4300	6503	SO:0001583	missense	64102					integral to membrane		g.chrX:99852545G>C	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.468G>C	X.37:g.99852545G>C	ENSP00000362122:p.Trp156Cys						p.W156C	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN			5	685	+			156			BRICHOS.		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	c.468G>C	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001965	0.74932	.	.	ENSG00000000005	ENST00000373031	T	0.79845	-1.31	5.84	5.84	0.93424	BRICHOS (2);	0.000000	0.85682	D	0.000000	D	0.89687	0.6787	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90323	0.4346	10	0.87932	D	0	-15.8345	19.0808	0.93180	0.0:0.0:1.0:0.0	.	156	Q9H2S6	TNMD_HUMAN	C	156	ENSP00000362122:W156C	ENSP00000362122:W156C	W	+	3	0	TNMD	99739201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.904000	0.87408	2.456000	0.83038	0.529000	0.55759	TGG		0.373	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		19	166	0	0	0	1	0	19	166				
ZIC4	84107	broad.mit.edu	37	3	147114119	147114119	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:147114119C>G	ENST00000383075.3	-	3	720	c.208G>C	c.(208-210)Gac>Cac	p.D70H	ZIC4_ENST00000525172.2_Missense_Mutation_p.D120H|ZIC4_ENST00000484399.1_Missense_Mutation_p.D70H|ZIC4_ENST00000425731.3_Missense_Mutation_p.D108H|ZIC4_ENST00000473123.1_Missense_Mutation_p.D70H|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	70						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCGTACATGTCTCCAGGGAGC	0.726																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(208-210)Gac>Cac		Zic family member 4							10.0	14.0	13.0					3																	147114119		1866	4081	5947	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114119C>G	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.208G>C	3.37:g.147114119C>G	ENSP00000372553:p.Asp70His					ZIC4_ENST00000473123.1_Missense_Mutation_p.D70H|ZIC4_ENST00000425731.3_Missense_Mutation_p.D108H|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.D70H|ZIC4_ENST00000525172.2_Missense_Mutation_p.D120H	p.D70H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	720	-			70					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.208G>C	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834089	0.91036	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748;ENST00000484586	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.01	5.01	0.66863	.	0.302092	0.23321	N	0.049457	T	0.61887	0.2383	L	0.60067	1.865	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.68353	0.957;0.867	T	0.65565	-0.6137	10	0.87932	D	0	.	18.3259	0.90254	0.0:1.0:0.0:0.0	.	120;70	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	H	70;108;120;70;70;70;70	ENSP00000372553:D70H;ENSP00000397695:D108H;ENSP00000435509:D120H;ENSP00000417855:D70H;ENSP00000420775:D70H;ENSP00000420627:D70H	ENSP00000372553:D70H	D	-	1	0	ZIC4	148596809	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.321000	0.78463	0.561000	0.74099	GAC		0.726	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			15	30	0	0	0	1	0	15	30				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	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			6	208	0	0	0	1	0	6	208				
N4BP2L2	10443	broad.mit.edu	37	13	33091954	33091954	+	Silent	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr13:33091954G>T	ENST00000267068.3	-	6	1901	c.1737C>A	c.(1735-1737)gtC>gtA	p.V579V	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	579					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GATTATTTGTGACACAGACAC	0.413																																						ENST00000267068.3																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1735-1737)gtC>gtA		NEDD4 binding protein 2-like 2							109.0	105.0	106.0					13																	33091954		2202	4300	6502	SO:0001819	synonymous_variant	10443							g.chr13:33091954G>T	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1737C>A	13.37:g.33091954G>T						N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron	p.V579V	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	6	1901	-		Lung SC(185;0.0262)	579					A3KME8	Silent	SNP	ENST00000267068.3	37	c.1737C>A	CCDS9346.1																																																																																				0.413	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		14	76	1	0	6.31663e-08	1	6.79405e-08	14	76				
ACACA	31	broad.mit.edu	37	17	35600294	35600294	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:35600294C>T	ENST00000394406.2	-	22	3003	c.2813G>A	c.(2812-2814)aGc>aAc	p.S938N	ACACA_ENST00000353139.5_Missense_Mutation_p.S975N|ACACA_ENST00000335166.5_Missense_Mutation_p.S860N|ACACA_ENST00000360679.3_Missense_Mutation_p.S880N	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	938					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TACCTGCTGGCTGGGAAACTG	0.428																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2923-2925)aGc>aAc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						149.0	142.0	144.0					17																	35600294		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600294C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2813G>A	17.37:g.35600294C>T	ENSP00000377928:p.Ser938Asn					ACACA_ENST00000360679.3_Missense_Mutation_p.S880N|ACACA_ENST00000394406.2_Missense_Mutation_p.S938N|ACACA_ENST00000335166.5_Missense_Mutation_p.S860N	p.S975N	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			22	3405	-		Breast(25;0.00157)|Ovarian(249;0.15)	938					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2924G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867295	0.72065	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.89	4.89	0.63831	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	M	0.84326	2.69	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.99	D;D;P	0.91635	0.999;0.962;0.876	T	0.74194	-0.3744	10	0.52906	T	0.07	-17.05	17.1304	0.86725	0.0:1.0:0.0:0.0	.	975;938;880	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	N	975;880;938;962;860	ENSP00000344789:S975N;ENSP00000353898:S880N;ENSP00000377928:S938N;ENSP00000335323:S860N	ENSP00000335323:S860N	S	-	2	0	ACACA	32674407	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.609000	0.82925	2.696000	0.92011	0.655000	0.94253	AGC		0.428	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		29	220	0	0	0	1	0	29	220				
PLEC	5339	broad.mit.edu	37	8	145001198	145001198	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:145001198A>T	ENST00000322810.4	-	29	4472	c.4303T>A	c.(4303-4305)Tcc>Acc	p.S1435T	PLEC_ENST00000357649.2_Missense_Mutation_p.S1302T|PLEC_ENST00000436759.2_Missense_Mutation_p.S1325T|PLEC_ENST00000354589.3_Missense_Mutation_p.S1298T|PLEC_ENST00000345136.3_Missense_Mutation_p.S1298T|PLEC_ENST00000354958.2_Missense_Mutation_p.S1276T|PLEC_ENST00000398774.2_Missense_Mutation_p.S1266T|PLEC_ENST00000356346.3_Missense_Mutation_p.S1284T|PLEC_ENST00000527096.1_Missense_Mutation_p.S1321T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1435	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGGCCGGGGAGGCCACCGGC	0.642																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(4303-4305)Tcc>Acc		plectin							62.0	68.0	66.0					8																	145001198		2088	4222	6310	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145001198A>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4303T>A	8.37:g.145001198A>T	ENSP00000323856:p.Ser1435Thr					PLEC_ENST00000354589.3_Missense_Mutation_p.S1298T|PLEC_ENST00000398774.2_Missense_Mutation_p.S1266T|PLEC_ENST00000527096.1_Missense_Mutation_p.S1321T|PLEC_ENST00000354958.2_Missense_Mutation_p.S1276T|PLEC_ENST00000345136.3_Missense_Mutation_p.S1298T|PLEC_ENST00000356346.3_Missense_Mutation_p.S1284T|PLEC_ENST00000436759.2_Missense_Mutation_p.S1325T|PLEC_ENST00000357649.2_Missense_Mutation_p.S1302T	p.S1435T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			29	4472	-			1435			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.4303T>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.492795	0.44352	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.97	4.97	0.65823	.	0.000000	0.64402	U	0.000007	T	0.51890	0.1701	M	0.77486	2.375	0.49915	D	0.999835	D;D;D;D;D;D;D;D	0.63880	0.993;0.993;0.993;0.988;0.993;0.993;0.993;0.993	P;P;P;P;P;P;P;P	0.58520	0.84;0.84;0.84;0.696;0.84;0.84;0.84;0.84	T	0.58869	-0.7560	10	0.72032	D	0.01	.	14.291	0.66278	1.0:0.0:0.0:0.0	.	1325;1284;1276;1435;1266;1298;1302;1298	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	T	1298;1302;1298;1266;1435;1276;1284;1325;1321	ENSP00000344848:S1298T;ENSP00000350277:S1302T;ENSP00000346602:S1298T;ENSP00000381756:S1266T;ENSP00000323856:S1435T;ENSP00000347044:S1276T;ENSP00000348702:S1284T;ENSP00000388180:S1325T;ENSP00000434583:S1321T	ENSP00000323856:S1435T	S	-	1	0	PLEC	145073186	1.000000	0.71417	0.941000	0.38009	0.961000	0.63080	6.060000	0.71141	1.863000	0.54032	0.368000	0.22195	TCC		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		21	97	0	0	0	1	0	21	97				
TNKS1BP1	85456	broad.mit.edu	37	11	57080223	57080223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:57080223C>A	ENST00000532437.1	-	4	2250	c.1939G>T	c.(1939-1941)Gag>Tag	p.E647*	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E647*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	647	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCTCCTCCTCAACAGGCAGT	0.647																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1939-1941)Gag>Tag		tankyrase 1 binding protein 1, 182kDa							40.0	43.0	42.0					11																	57080223		2201	4296	6497	SO:0001587	stop_gained	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57080223C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1939G>T	11.37:g.57080223C>A	ENSP00000437271:p.Glu647*					TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E647*	p.E647*			Q9C0C2	TB182_HUMAN			4	2250	-		all_epithelial(135;0.21)	647			Acidic.|Pro-rich.		A7E2F8|Q6PJ35|Q6ZV74	Nonsense_Mutation	SNP	ENST00000532437.1	37	c.1939G>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313502	0.95655	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	.	.	.	3.52	1.43	0.22495	.	0.200676	0.24638	N	0.036834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-11.7556	3.3359	0.07101	0.0:0.4394:0.2379:0.3227	.	.	.	.	X	647	.	ENSP00000350990:E647X	E	-	1	0	TNKS1BP1	56836799	0.000000	0.05858	0.411000	0.26484	0.044000	0.14063	-0.465000	0.06680	0.689000	0.31550	0.455000	0.32223	GAG		0.647	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		21	75	1	0	0.000132079	1	0.000137273	21	75				
BRWD1	54014	broad.mit.edu	37	21	40650700	40650700	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:40650700G>A	ENST00000333229.2	-	10	1299	c.972C>T	c.(970-972)ggC>ggT	p.G324G	BRWD1_ENST00000380800.3_Silent_p.G324G|BRWD1_ENST00000342449.3_Silent_p.G324G	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	324					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCATTTGAACGCCTGGCCTAG	0.333																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(970-972)ggC>ggT		bromodomain and WD repeat domain containing 1							84.0	91.0	88.0					21																	40650700		2203	4300	6503	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40650700G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.972C>T	21.37:g.40650700G>A						BRWD1_ENST00000380800.3_Silent_p.G324G|BRWD1_ENST00000333229.2_Silent_p.G324G	p.G324G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			10	1050	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	324					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.972C>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312047	0.23821	.	.	ENSG00000185658	ENST00000455867	.	.	.	5.1	-9.33	0.00639	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40478	-0.9561	4	.	.	.	.	1.5457	0.02564	0.4764:0.1997:0.1196:0.2044	.	.	.	.	C	36	.	.	R	-	1	0	BRWD1	39572570	0.000000	0.05858	0.822000	0.32727	0.997000	0.91878	-2.790000	0.00767	-1.651000	0.01504	0.591000	0.81541	CGT		0.333	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		42	115	0	0	0	1	0	42	115				
SLC5A10	125206	broad.mit.edu	37	17	18923025	18923025	+	Splice_Site	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:18923025G>A	ENST00000395645.3	+	13	1428		c.e13-1		SLC5A10_ENST00000395647.2_Splice_Site|SLC5A10_ENST00000395642.1_Splice_Site|SLC5A10_ENST00000417251.2_Splice_Site|SLC5A10_ENST00000317977.6_Splice_Site|SLC5A10_ENST00000395643.2_Splice_Site	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CTCCTCCCCAGGGGGCCTTCT	0.682																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.e13-1		solute carrier family 5 (sodium/sugar cotransporter), member 10							14.0	17.0	16.0					17																	18923025		2201	4294	6495	SO:0001630	splice_region_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18923025G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1411-1G>A	17.37:g.18923025G>A						SLC5A10_ENST00000395645.3_Splice_Site|SLC5A10_ENST00000395642.1_Splice_Site|SLC5A10_ENST00000395643.2_Splice_Site|SLC5A10_ENST00000417251.2_Splice_Site|SLC5A10_ENST00000395647.2_Splice_Site				A0PJK1	SC5AA_HUMAN			13	1891	+								A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Splice_Site	SNP	ENST00000395645.3	37		CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475271	0.84640	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3613	0.87351	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC5A10	18863750	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.672000	0.98629	2.269000	0.75478	0.561000	0.74099	.		0.682	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351	Intron	4	41	0	0	0	1	0	4	41				
RAD51AP2	729475	broad.mit.edu	37	2	17697544	17697544	+	Silent	SNP	A	A	G	rs369006007		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:17697544A>G	ENST00000399080.2	-	1	2162	c.2139T>C	c.(2137-2139)tgT>tgC	p.C713C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	713										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTGTTGAGGACAACTCATAT	0.323																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2137-2139)tgT>tgC		RAD51 associated protein 2							73.0	69.0	70.0					2																	17697544		1819	4075	5894	SO:0001819	synonymous_variant	729475							g.chr2:17697544A>G	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2139T>C	2.37:g.17697544A>G							p.C713C	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	2162	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		713						Silent	SNP	ENST00000399080.2	37	c.2139T>C	CCDS42656.1																																																																																				0.323	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		18	91	0	0	0	1	0	18	91				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		9	27	0	0	0	1	0	9	27				
TACSTD2	4070	broad.mit.edu	37	1	59042502	59042502	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:59042502G>A	ENST00000371225.2	-	1	664	c.327C>T	c.(325-327)gaC>gaT	p.D109D		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	109	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					GGCCCTCGGGGTCGCAGTCGG	0.701																																						ENST00000371225.2																			0											c.(325-327)gaC>gaT		tumor-associated calcium signal transducer 2							16.0	13.0	14.0					1																	59042502		2191	4291	6482	SO:0001819	synonymous_variant	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59042502G>A	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.327C>T	1.37:g.59042502G>A							p.D109D	NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN			1	664	-	all_cancers(7;6.54e-05)		109			Thyroglobulin type-1.		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Silent	SNP	ENST00000371225.2	37	c.327C>T	CCDS609.1																																																																																				0.701	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353		15	26	0	0	0	1	0	15	26				
NFE2L2	4780	broad.mit.edu	37	2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		4	Substitution - Missense(4)	p.R34G(4)	lung(2)|endometrium(2)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(100-102)Cga>Gga		nuclear factor, erythroid 2-like 2							75.0	68.0	70.0					2																	178098945		1847	4103	5950	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098945G>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.100C>G	2.37:g.178098945G>C	ENSP00000380252:p.Arg34Gly	HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G	p.R34G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	654	-			34					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.100C>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190279	0.58017	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.78	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.86740	2.835	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.998;0.998	T	0.66862	-0.5816	10	0.72032	D	0.01	.	14.8506	0.70295	0.0:0.0:0.6243:0.3757	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	18;34;18;18;18;18;18	ENSP00000380253:R18G;ENSP00000380252:R34G;ENSP00000411575:R18G;ENSP00000391590:R18G;ENSP00000400073:R18G;ENSP00000412191:R18G;ENSP00000410015:R18G	ENSP00000380252:R34G	R	-	1	2	NFE2L2	177807191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.376000	0.73141	0.300000	0.22699	0.563000	0.77884	CGA		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		37	72	0	0	0	1	0	37	72				
ZBTB7A	51341	broad.mit.edu	37	19	4054997	4054997	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:4054997G>C	ENST00000322357.4	-	2	512	c.234C>G	c.(232-234)gaC>gaG	p.D78E	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.D78E	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	78	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTGACGAAGTCGATCTCGT	0.662																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(232-234)gaC>gaG		zinc finger and BTB domain containing 7A							80.0	63.0	69.0					19																	4054997		2202	4300	6502	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054997G>C	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.234C>G	19.37:g.4054997G>C	ENSP00000323670:p.Asp78Glu					ZBTB7A_ENST00000601588.1_Missense_Mutation_p.D78E	p.D78E	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	512	-		Hepatocellular(1079;0.137)	78			BTB.		D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.234C>G	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859307	0.71834	.	.	ENSG00000178951	ENST00000322357	T	0.66995	-0.24	4.89	3.84	0.44239	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	L	0.42744	1.35	0.43313	D	0.995325	P	0.35456	0.502	B	0.35240	0.198	T	0.57388	-0.7820	10	0.72032	D	0.01	.	7.465	0.27316	0.0849:0.0:0.748:0.1671	.	78	O95365	ZBT7A_HUMAN	E	78	ENSP00000323670:D78E	ENSP00000323670:D78E	D	-	3	2	ZBTB7A	4005997	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.449000	0.66619	1.032000	0.39892	0.462000	0.41574	GAC		0.662	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		13	69	0	0	0	1	0	13	69				
NPFFR2	10886	broad.mit.edu	37	4	73012967	73012967	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:73012967T>A	ENST00000308744.6	+	4	1105	c.1007T>A	c.(1006-1008)cTc>cAc	p.L336H	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.L237H|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.L234H	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	336					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CCCCTCTCCCTCATTGTCATC	0.527																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1006-1008)cTc>cAc		neuropeptide FF receptor 2							92.0	79.0	83.0					4																	73012967		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012967T>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1007T>A	4.37:g.73012967T>A	ENSP00000307822:p.Leu336His					NPFFR2_ENST00000358749.3_Missense_Mutation_p.L234H|NPFFR2_ENST00000395999.1_Missense_Mutation_p.L237H|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR	p.L336H	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1105	+			336					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1007T>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.855650	0.51376	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.45276	0.9;0.9;0.9	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.392405	0.22064	N	0.065124	T	0.75309	0.3832	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.959;0.986	T	0.83107	-0.0125	10	0.87932	D	0	.	16.0128	0.80413	0.0:0.0:0.0:1.0	.	237;336	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	H	336;237;234	ENSP00000307822:L336H;ENSP00000379321:L237H;ENSP00000351599:L234H	ENSP00000307822:L336H	L	+	2	0	NPFFR2	73231831	1.000000	0.71417	0.992000	0.48379	0.009000	0.06853	7.911000	0.87458	2.252000	0.74401	0.533000	0.62120	CTC		0.527	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		12	79	0	0	0	1	0	12	79				
COL4A5	1287	broad.mit.edu	37	X	107909817	107909817	+	Silent	SNP	T	T	C	rs281874716		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:107909817T>C	ENST00000361603.2	+	39	3790	c.3546T>C	c.(3544-3546)ggT>ggC	p.G1182G	COL4A5_ENST00000328300.6_Silent_p.G1182G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1182	Triple-helical region.		G -> R (in APSX; juvenile type).		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GACAGAAGGGTGAACCAGGTG	0.428									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(3544-3546)ggT>ggC		collagen, type IV, alpha 5							60.0	52.0	55.0					X																	107909817		2202	4300	6502	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107909817T>C	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3546T>C	X.37:g.107909817T>C						COL4A5_ENST00000361603.2_Silent_p.G1182G	p.G1182G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			39	3790	+			1182		G -> R (in APSX; juvenile type).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.3546T>C	CCDS14543.1																																																																																				0.428	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			13	28	0	0	0	1	0	13	28				
MUC3A	4584	broad.mit.edu	37	7	100553050	100553050	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr7:100553050G>A	ENST00000319509.7	+	2	1695	c.1695G>A	c.(1693-1695)gtG>gtA	p.V565V				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2230	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGTTTGCTGTGGAACAGGTGG	0.567																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1693-1695)gtG>gtA		mucin 3A, cell surface associated																																				SO:0001819	synonymous_variant	4584							g.chr7:100553050G>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1695G>A	7.37:g.100553050G>A							p.V565V							2	1695	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.1695G>A																																																																																					0.567	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		9	118	0	0	0	1	0	9	118				
PTCH2	8643	broad.mit.edu	37	1	45293182	45293182	+	Missense_Mutation	SNP	C	C	T	rs200862802		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:45293182C>T	ENST00000372192.3	-	15	2393	c.2263G>A	c.(2263-2265)Gcc>Acc	p.A755T	PTCH2_ENST00000447098.2_Missense_Mutation_p.A755T	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	755					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCAAAGAGGGCGCGTTGGGAG	0.642									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2263-2265)Gcc>Acc		patched 2		C	THR/ALA,THR/ALA	0,4406		0,0,2203	64.0	76.0	72.0		2263,2263	3.8	1.0	1		72	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	PTCH2	NM_003738.4,NM_001166292.1	58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	755/1204,755/1147	45293182	2,13004	2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293182C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2263G>A	1.37:g.45293182C>T	ENSP00000361266:p.Ala755Thr					PTCH2_ENST00000372192.3_Missense_Mutation_p.A755T	p.A755T	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			15	2274	-	Acute lymphoblastic leukemia(166;0.155)		755					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.2263G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962259	0.34659	0.0	2.33E-4	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.82526	-1.62;-1.62	4.84	3.85	0.44370	.	0.000000	0.42682	D	0.000665	T	0.69351	0.3101	N	0.22421	0.69	0.31005	N	0.719884	B;B	0.23854	0.092;0.051	B;B	0.15484	0.013;0.009	T	0.63910	-0.6530	10	0.19147	T	0.46	-24.1002	12.2006	0.54323	0.2976:0.7024:0.0:0.0	.	755;755	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	T	755	ENSP00000389703:A755T;ENSP00000361266:A755T	ENSP00000361266:A755T	A	-	1	0	PTCH2	45065769	0.965000	0.33210	0.996000	0.52242	0.995000	0.86356	1.819000	0.39022	2.393000	0.81446	0.557000	0.71058	GCC		0.642	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		28	76	0	0	0	1	0	28	76				
CIT	11113	broad.mit.edu	37	12	120214570	120214570	+	Missense_Mutation	SNP	C	C	T	rs201303983		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:120214570C>T	ENST00000261833.7	-	14	1794	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q	CIT_ENST00000392521.2_Missense_Mutation_p.R581Q|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	581					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGATCACTCCGTCTTCTTGC	0.448																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(1741-1743)cGg>cAg		citron (rho-interacting, serine/threonine kinase 21)		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	141.0	137.0	139.0		1742,1742	5.7	1.0	12		139	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	CIT	NM_001206999.1,NM_007174.2	43,43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	581/2070,581/2028	120214570	3,13003	2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120214570C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1742G>A	12.37:g.120214570C>T	ENSP00000261833:p.Arg581Gln					CIT_ENST00000261833.7_Missense_Mutation_p.R581Q|CIT_ENST00000537607.1_5'UTR	p.R581Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	14	1797	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	581					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.1742G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.867175|4.867175	0.91511|0.91511	0.0|0.0	3.49E-4|3.49E-4	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.65732	.|-0.17;-0.08	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66066|0.66066	0.2752|0.2752	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.71674	.|0.998;0.835;0.772	.|P;B;B	.|0.60682	.|0.878;0.06;0.089	T|T	0.58983|0.58983	-0.7539|-0.7539	5|10	.|0.17369	.|T	.|0.5	.|.	19.8377|19.8377	0.96663|0.96663	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|581;581;114	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	R|Q	209|581	.|ENSP00000376306:R581Q;ENSP00000261833:R581Q	.|ENSP00000261833:R581Q	G|R	-|-	1|2	0|0	CIT|CIT	118698953|118698953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.089000|6.089000	0.71384|0.71384	2.711000|2.711000	0.92665|0.92665	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.448	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		76	135	0	0	0	1	0	76	135				
NBAS	51594	broad.mit.edu	37	2	15415841	15415841	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:15415841G>A	ENST00000281513.5	-	44	5516	c.5491C>T	c.(5491-5493)Ccc>Tcc	p.P1831S	NBAS_ENST00000441750.1_Missense_Mutation_p.P1711S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1831					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGGATTTTGGGAACAAGTTTG	0.403																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(5491-5493)Ccc>Tcc		neuroblastoma amplified sequence							87.0	90.0	89.0					2																	15415841		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15415841G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5491C>T	2.37:g.15415841G>A	ENSP00000281513:p.Pro1831Ser					NBAS_ENST00000441750.1_Missense_Mutation_p.P1711S	p.P1831S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			44	5516	-			1831					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5491C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	8.814	0.935931	0.18206	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09350	2.99;3.15	5.35	4.25	0.50352	.	0.393772	0.31233	N	0.008020	T	0.06554	0.0168	N	0.12961	0.28	0.37752	D	0.92601	P;B	0.34615	0.459;0.028	B;B	0.30943	0.122;0.01	T	0.24941	-1.0146	10	0.87932	D	0	.	10.9227	0.47174	0.1599:0.0:0.8401:0.0	.	1711;1831	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	S	1711;1831	ENSP00000413201:P1711S;ENSP00000281513:P1831S	ENSP00000281513:P1831S	P	-	1	0	NBAS	15333292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.798000	0.38814	2.676000	0.91093	0.591000	0.81541	CCC		0.403	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		15	88	0	0	0	1	0	15	88				
HELZ	9931	broad.mit.edu	37	17	65104673	65104673	+	Silent	SNP	C	C	T	rs368464329		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:65104673C>T	ENST00000358691.5	-	30	4825	c.4659G>A	c.(4657-4659)ccG>ccA	p.P1553P	HELZ_ENST00000580168.1_Silent_p.P1554P	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1553						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCCTCACTGGCGGCTGATGTA	0.562																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4657-4659)ccG>ccA		helicase with zinc finger		C		0,4218		0,0,2109	64.0	81.0	75.0		4659	-10.5	0.0	17		75	3,8475		0,3,4236	no	coding-synonymous	HELZ	NM_014877.3		0,3,6345	TT,TC,CC		0.0354,0.0,0.0236		1553/1943	65104673	3,12693	2109	4239	6348	SO:0001819	synonymous_variant	9931							g.chr17:65104673C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4659G>A	17.37:g.65104673C>T						HELZ_ENST00000580168.1_Silent_p.P1554P	p.P1553P	NM_014877.3	NP_055692.2					30	4825	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.4659G>A	CCDS42374.1																																																																																				0.562	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		12	126	0	0	0	1	0	12	126				
FSTL5	56884	broad.mit.edu	37	4	162463813	162463813	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr4:162463813G>T	ENST00000306100.5	-	9	1484	c.1048C>A	c.(1048-1050)Cag>Aag	p.Q350K	FSTL5_ENST00000379164.4_Missense_Mutation_p.Q349K|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q349K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q349K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	350	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTCTAGCCTGACTCTCTGGA	0.418																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(1048-1050)Cag>Aag		follistatin-like 5							68.0	69.0	69.0					4																	162463813		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162463813G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1048C>A	4.37:g.162463813G>T	ENSP00000305334:p.Gln350Lys					FSTL5_ENST00000536695.1_Missense_Mutation_p.Q349K|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q349K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q349K	p.Q350K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	9	1484	-	all_hematologic(180;0.24)		350			Ig-like 2.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1048C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874219	0.72180	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.88	4.88	0.63580	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	L	0.43554	1.36	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.81914	0.987;0.995;0.967	T	0.74680	-0.3584	10	0.37606	T	0.19	.	17.4015	0.87461	0.0:0.0:1.0:0.0	.	349;349;350	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	K	350;349;349;349	ENSP00000305334:Q350K;ENSP00000368462:Q349K;ENSP00000389270:Q349K;ENSP00000440409:Q349K	ENSP00000305334:Q350K	Q	-	1	0	FSTL5	162683263	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.476000	0.97823	2.422000	0.82143	0.462000	0.41574	CAG		0.418	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		14	103	1	0	2.32078e-09	1	2.55563e-09	14	103				
OR2G6	391211	broad.mit.edu	37	1	248685642	248685642	+	Missense_Mutation	SNP	C	C	T	rs373436860		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:248685642C>T	ENST00000343414.4	+	1	727	c.695C>T	c.(694-696)gCg>gTg	p.A232V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAATCAGCTGCGGGCCGCCAA	0.468																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(694-696)gCg>gTg		olfactory receptor, family 2, subfamily G, member 6		C	VAL/ALA	2,4404		0,2,2201	100.0	104.0	103.0		695	1.6	0.0	1		103	0,8600		0,0,4300	no	missense	OR2G6	NM_001013355.1	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	232/317	248685642	2,13004	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685642C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.695C>T	1.37:g.248685642C>T	ENSP00000341291:p.Ala232Val						p.A232V	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	727	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	232					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.695C>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	2.432	-0.330736	0.05314	4.54E-4	0.0	ENSG00000188558	ENST00000343414	T	0.00137	8.68	3.5	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.524360	0.15733	N	0.247314	T	0.00144	0.0004	L	0.53729	1.69	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.44544	-0.9321	10	0.48119	T	0.1	.	1.2675	0.02014	0.1717:0.4519:0.1678:0.2085	.	232	Q5TZ20	OR2G6_HUMAN	V	232	ENSP00000341291:A232V	ENSP00000341291:A232V	A	+	2	0	OR2G6	246752265	0.000000	0.05858	0.045000	0.18777	0.012000	0.07955	0.074000	0.14662	0.304000	0.22809	-0.528000	0.04320	GCG		0.468	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		51	155	0	0	0	1	0	51	155				
RUNX2	860	broad.mit.edu	37	6	45459775	45459775	+	Silent	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:45459775C>A	ENST00000371438.1	+	5	1141	c.783C>A	c.(781-783)gtC>gtA	p.V261V	RUNX2_ENST00000352853.5_Silent_p.V329V|RUNX2_ENST00000371436.6_Silent_p.V261V|RUNX2_ENST00000541979.1_Silent_p.V329V|RUNX2_ENST00000371432.3_Silent_p.V247V|RUNX2_ENST00000465038.2_Silent_p.V261V|RUNX2_ENST00000359524.5_Silent_p.V247V|RUNX2_ENST00000576263.1_Silent_p.V261V	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	261	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAGTAGGTGTCCCGCCTCAGA	0.502																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(781-783)gtC>gtA		runt-related transcription factor 2							375.0	287.0	317.0					6																	45459775		2203	4300	6503	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45459775C>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.783C>A	6.37:g.45459775C>A						RUNX2_ENST00000541979.1_Silent_p.V329V|RUNX2_ENST00000371432.3_Silent_p.V247V|RUNX2_ENST00000465038.2_Silent_p.V261V|RUNX2_ENST00000352853.5_Silent_p.V329V|RUNX2_ENST00000359524.5_Silent_p.V247V|RUNX2_ENST00000576263.1_Silent_p.V261V|RUNX2_ENST00000371436.6_Silent_p.V261V	p.V261V	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			5	1141	+			261			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.783C>A	CCDS43467.2																																																																																				0.502	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		20	176	1	0	5.35267e-07	1	5.72395e-07	20	176				
KLHL24	54800	broad.mit.edu	37	3	183381264	183381264	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:183381264G>A	ENST00000454652.2	+	5	1325	c.939G>A	c.(937-939)gaG>gaA	p.E313E	KLHL24_ENST00000476808.1_Silent_p.E313E|KLHL24_ENST00000242810.6_Silent_p.E313E	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	313						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCTATTCTGAGGTGATAGTTG	0.338																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(937-939)gaG>gaA		kelch-like family member 24							161.0	145.0	151.0					3																	183381264		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183381264G>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.939G>A	3.37:g.183381264G>A						KLHL24_ENST00000242810.6_Silent_p.E313E|KLHL24_ENST00000476808.1_Silent_p.E313E	p.E313E			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		5	1325	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		313					A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.939G>A	CCDS3246.1																																																																																				0.338	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		45	149	0	0	0	1	0	45	149				
BSPRY	54836	broad.mit.edu	37	9	116130642	116130642	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:116130642G>A	ENST00000374183.4	+	5	700	c.661G>A	c.(661-663)Gcg>Acg	p.A221T	BSPRY_ENST00000462085.1_Intron	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	221	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTGGGCAACGGCGGTTCTTGG	0.527																																						ENST00000374183.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(661-663)Gcg>Acg		B-box and SPRY domain containing							85.0	84.0	84.0					9																	116130642		1905	4111	6016	SO:0001583	missense	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116130642G>A	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.661G>A	9.37:g.116130642G>A	ENSP00000363298:p.Ala221Thr					BSPRY_ENST00000462085.1_Intron	p.A221T	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN			5	700	+			221			B30.2/SPRY.		B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	c.661G>A	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603649	0.66445	.	.	ENSG00000119411	ENST00000374183	T	0.04809	3.55	6.07	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.098987	0.64402	D	0.000001	T	0.06962	0.0177	L	0.57536	1.79	0.27192	N	0.960384	P	0.42456	0.78	B	0.40636	0.335	T	0.20075	-1.0286	10	0.11794	T	0.64	-19.6943	13.2651	0.60128	0.0:0.0:0.7025:0.2975	.	221	Q5W0U4	BSPRY_HUMAN	T	221	ENSP00000363298:A221T	ENSP00000363298:A221T	A	+	1	0	BSPRY	115170463	0.993000	0.37304	0.024000	0.17045	0.658000	0.38924	3.054000	0.49908	1.514000	0.48869	0.655000	0.94253	GCG		0.527	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		22	176	0	0	0	1	0	22	176				
SNHG14	104472715	broad.mit.edu	37	15	25436628	25436628	+	RNA	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr15:25436628G>T	ENST00000424208.1	+	0	1092				SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-11_ENST00000363616.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGCTCAATAGGATTACGCTG	0.507																																						ENST00000424208.1																			0																				431.0	448.0	443.0					15																	25436628		876	1989	2865			104472715							g.chr15:25436628G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436628G>T						SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA		NR_003305.1						0	1092	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.507	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			83	609	1	0	8.45e-40	1	9.95701e-40	83	609				
HOXD10	3236	broad.mit.edu	37	2	176982019	176982019	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:176982019G>C	ENST00000249501.4	+	1	713	c.458G>C	c.(457-459)aGa>aCa	p.R153T	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	153					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGATATTTTAGACTGAGTCAG	0.572																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(457-459)aGa>aCa		homeobox D10							98.0	114.0	108.0					2																	176982019		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176982019G>C		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.458G>C	2.37:g.176982019G>C	ENSP00000249501:p.Arg153Thr					HOXD10_ENST00000490088.2_Intron	p.R153T	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	713	+			153					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.458G>C	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047980	0.75846	.	.	ENSG00000128710	ENST00000249501	T	0.68025	-0.3	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	M	0.87328	2.875	0.80722	D	1	D	0.61080	0.989	P	0.57911	0.829	D	0.83866	0.0271	10	0.54805	T	0.06	.	20.4756	0.99175	0.0:0.0:1.0:0.0	.	153	P28358	HXD10_HUMAN	T	153	ENSP00000249501:R153T	ENSP00000249501:R153T	R	+	2	0	HOXD10	176690265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.847000	0.97988	0.655000	0.94253	AGA		0.572	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			5	353	0	0	0	1	0	5	353				
RSPH14	27156	broad.mit.edu	37	22	23406115	23406115	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr22:23406115G>A	ENST00000216036.4	-	5	814	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		206										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCTTGCTGCGGATGTTCTGGT	0.622																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(616-618)atC>atT		rhabdoid tumor deletion region gene 1							95.0	83.0	87.0					22																	23406115		2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23406115G>A																												ENST00000216036.4:c.618C>T	22.37:g.23406115G>A							p.I206I	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	5	814	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		206						Silent	SNP	ENST00000216036.4	37	c.618C>T	CCDS13803.1																																																																																				0.622	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			12	136	0	0	0	1	0	12	136				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	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.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	58	0	0	0	1	0	4	58				
SLC25A32	81034	broad.mit.edu	37	8	104419953	104419953	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:104419953T>C	ENST00000297578.4	-	2	380	c.214A>G	c.(214-216)Att>Gtt	p.I72V	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	72					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	AGTTTCCAAATGGTAGTCAAG	0.408																																						ENST00000297578.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9						c.(214-216)Att>Gtt		solute carrier family 25 (mitochondrial folate carrier), member 32	Folic Acid(DB00158)						169.0	168.0	168.0					8																	104419953		2203	4300	6503	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104419953T>C	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.214A>G	8.37:g.104419953T>C	ENSP00000297578:p.Ile72Val					SLC25A32_ENST00000543107.1_5'UTR	p.I72V	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	380	-			72					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.214A>G	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372966	0.61624	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	T	0.80653	-1.4	6.05	6.05	0.98169	Mitochondrial carrier domain (2);	0.110163	0.64402	D	0.000005	T	0.81163	0.4765	M	0.63208	1.945	0.80722	D	1	B	0.27316	0.175	B	0.39971	0.315	T	0.79222	-0.1892	10	0.49607	T	0.09	-17.6409	8.5096	0.33208	0.0:0.1463:0.0:0.8537	.	72	Q9H2D1	MFTC_HUMAN	V	72;56	ENSP00000297578:I72V	ENSP00000297578:I72V	I	-	1	0	SLC25A32	104489129	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.341000	0.52151	2.320000	0.78422	0.528000	0.53228	ATT		0.408	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		32	240	0	0	0	1	0	32	240				
FXYD5	53827	broad.mit.edu	37	19	35657174	35657174	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:35657174C>T	ENST00000342879.3	+	7	1211	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	145					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTCCGGAAACGGGGGCTGTT	0.552																																						ENST00000342879.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(433-435)Cgg>Tgg		FXYD domain containing ion transport regulator 5							195.0	199.0	197.0					19																	35657174		2203	4300	6503	SO:0001583	missense	53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35657174C>T	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.433C>T	19.37:g.35657174C>T	ENSP00000344254:p.Arg145Trp					FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W	p.R145W			Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		7	1211	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		145					B7WNZ8|Q6UW44|Q9HC34|Q9P039	Missense_Mutation	SNP	ENST00000342879.3	37	c.433C>T	CCDS12447.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885248	0.72410	.	.	ENSG00000089327	ENST00000543307;ENST00000392219;ENST00000541435;ENST00000342879;ENST00000423817;ENST00000392217	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.17	2.85	0.33270	.	0.564744	0.17017	N	0.190267	T	0.72969	0.3527	L	0.57536	1.79	0.34773	D	0.733918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.984;0.998	T	0.79162	-0.1917	10	0.66056	D	0.02	-12.5055	10.1426	0.42744	0.4077:0.5923:0.0:0.0	.	145;74;145	F5H4X8;Q96DB9-2;Q96DB9	.;.;FXYD5_HUMAN	W	145;145;145;145;145;74	ENSP00000444839:R145W;ENSP00000376053:R145W;ENSP00000443390:R145W;ENSP00000344254:R145W;ENSP00000393848:R145W;ENSP00000376051:R74W	ENSP00000344254:R145W	R	+	1	2	FXYD5	40349014	0.546000	0.26457	0.981000	0.43875	0.945000	0.59286	0.671000	0.25172	1.328000	0.45358	0.563000	0.77884	CGG		0.552	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		85	417	0	0	0	1	0	85	417				
PWWP2B	170394	broad.mit.edu	37	10	134219279	134219279	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr10:134219279C>G	ENST00000305233.5	+	2	1334	c.1275C>G	c.(1273-1275)agC>agG	p.S425R	PWWP2B_ENST00000368609.4_Missense_Mutation_p.S425R	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	425										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGTGCAGCAGCGACAGCCTGG	0.692																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(1273-1275)agC>agG		PWWP domain containing 2B							34.0	32.0	33.0					10																	134219279		2196	4299	6495	SO:0001583	missense	170394							g.chr10:134219279C>G	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1275C>G	10.37:g.134219279C>G	ENSP00000306324:p.Ser425Arg					PWWP2B_ENST00000368609.4_Missense_Mutation_p.S425R	p.S425R	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1334	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	425					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.1275C>G	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	C	16.42	3.116959	0.56505	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.58210	0.35;1.34	3.59	0.69	0.18039	.	0.117690	0.56097	U	0.000034	T	0.47948	0.1473	L	0.53249	1.67	0.39830	D	0.972961	P	0.52692	0.955	P	0.49829	0.623	T	0.44498	-0.9324	10	0.52906	T	0.07	-12.8411	3.5623	0.07887	0.0:0.3935:0.1939:0.4126	.	425	Q6NUJ5	PWP2B_HUMAN	R	425	ENSP00000306324:S425R;ENSP00000357598:S425R	ENSP00000306324:S425R	S	+	3	2	PWWP2B	134069269	0.991000	0.36638	0.998000	0.56505	0.815000	0.46073	0.196000	0.17176	0.155000	0.19261	0.563000	0.77884	AGC		0.692	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		10	89	0	0	0	1	0	10	89				
KAT2B	8850	broad.mit.edu	37	3	20082194	20082194	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:20082194C>T	ENST00000263754.4	+	1	680	c.225C>T	c.(223-225)atC>atT	p.I75I	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	75					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CGGCCCGAATCGCCGTGAAGA	0.721																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(223-225)atC>atT		K(lysine) acetyltransferase 2B							10.0	10.0	10.0					3																	20082194		2077	4090	6167	SO:0001819	synonymous_variant	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20082194C>T	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.225C>T	3.37:g.20082194C>T						KAT2B_ENST00000426228.1_3'UTR	p.I75I	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			1	680	+			75					Q6NSK1	Silent	SNP	ENST00000263754.4	37	c.225C>T	CCDS2634.1																																																																																				0.721	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		10	19	0	0	0	1	0	10	19				
SMARCA4	6597	broad.mit.edu	37	19	11134270	11134270	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:11134270G>A	ENST00000429416.3	+	21	3217	c.2936G>A	c.(2935-2937)cGa>cAa	p.R979Q	SMARCA4_ENST00000413806.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R979Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R979Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R979Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R979Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R979Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	979					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGCTCCGACGACTCAAGAAG	0.577			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2935-2937)cGa>cAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							52.0	47.0	49.0					19																	11134270		2202	4300	6502	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11134270G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2936G>A	19.37:g.11134270G>A	ENSP00000395654:p.Arg979Gln					SMARCA4_ENST00000429416.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R979Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R979Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R979Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R979Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R979Q	p.R979Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			20	3220	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	979					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2936G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555460	0.96514	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99961	-9.38;-9.38;-9.38;-9.38;-9.38;-9.38;-9.38	4.9	4.9	0.64082	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99977	0.9993	H	0.99820	4.81	0.53005	D	0.999966	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.997;0.998;0.995;0.986;1.0;0.997;0.997	D	0.98145	1.0438	10	0.87932	D	0	-38.2734	16.9975	0.86372	0.0:0.0:1.0:0.0	.	979;979;979;979;979;199;979;979	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	Q	979;979;1043;979;979;979;979;979	ENSP00000395654:R979Q;ENSP00000350720:R979Q;ENSP00000343896:R979Q;ENSP00000445036:R979Q;ENSP00000392837:R979Q;ENSP00000397783:R979Q;ENSP00000414727:R979Q	ENSP00000343896:R979Q	R	+	2	0	SMARCA4	10995270	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.411000	0.97342	2.542000	0.85734	0.655000	0.94253	CGA		0.577	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		12	29	0	0	0	1	0	12	29				
PTPN22	26191	broad.mit.edu	37	1	114397603	114397603	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:114397603G>A	ENST00000359785.5	-	8	744	c.609C>T	c.(607-609)gaC>gaT	p.D203D	PTPN22_ENST00000420377.2_Silent_p.D203D|PTPN22_ENST00000528414.1_Silent_p.D203D|PTPN22_ENST00000460620.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000534519.1_5'Flank	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	203	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGAATAGGGTCTATAGATG	0.413																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(607-609)gaC>gaT		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							166.0	149.0	155.0					1																	114397603		2203	4300	6503	SO:0001819	synonymous_variant	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114397603G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.609C>T	1.37:g.114397603G>A						PTPN22_ENST00000528414.1_Silent_p.D203D|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Silent_p.D203D|PTPN22_ENST00000538253.1_Intron	p.D203D	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	744	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	203			Tyrosine-protein phosphatase.		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Silent	SNP	ENST00000359785.5	37	c.609C>T	CCDS863.1																																																																																				0.413	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		44	136	0	0	0	1	0	44	136				
DISC1	27185	broad.mit.edu	37	1	231829916	231829916	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:231829916C>A	ENST00000366637.3	+	0	465				DISC1_ENST00000535983.1_Missense_Mutation_p.P138T|DISC1_ENST00000317586.4_Missense_Mutation_p.P138T|DISC1_ENST00000366636.4_Missense_Mutation_p.P138T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000539444.1_Missense_Mutation_p.P138T|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.P138T|DISC1_ENST00000366633.3_Missense_Mutation_p.P138T|DISC1_ENST00000439617.2_Missense_Mutation_p.P138T|DISC1_ENST00000537876.1_Missense_Mutation_p.P138T	NM_001012957.1	NP_001012975.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1						canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCCGTGTGGCCCTGGGAGTGC	0.612																																						ENST00000366637.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15								disrupted in schizophrenia 1							40.0	41.0	41.0					1																	231829916		2203	4300	6503			27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231829916C>A	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000366637.3:c.-1593C>A	1.37:g.231829916C>A						DISC1_ENST00000317586.4_Missense_Mutation_p.P138T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.P138T|DISC1_ENST00000366633.3_Missense_Mutation_p.P138T|DISC1_ENST00000537876.1_Missense_Mutation_p.P138T|DISC1_ENST00000539444.1_Missense_Mutation_p.P138T|DISC1_ENST00000366636.4_Missense_Mutation_p.P138T|DISC1_ENST00000535983.1_Missense_Mutation_p.P138T|DISC1_ENST00000602281.1_Missense_Mutation_p.P138T|DISC1_ENST00000602873.1_Intron		NM_001012957.1	NP_001012975.1	Q9NRI5	DISC1_HUMAN			0	465	+		all_cancers(173;0.0208)|Prostate(94;0.0975)						A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Translation_Start_Site	SNP	ENST00000366637.3	37			.	.	.	.	.	.	.	.	.	.	C	16.60	3.169553	0.57584	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	4.91	2.99	0.34606	.	0.279369	0.30940	N	0.008575	T	0.42177	0.1191	L	0.29908	0.895	0.09310	N	0.999998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;P;D;D	0.76494	0.985;0.98;0.999;0.987;0.98;0.999;0.997;0.994;0.98;0.997;0.996;0.987;0.987;0.98;0.98;0.95;0.987;0.98;0.95;0.98;0.996	P;P;D;P;P;D;D;P;P;D;D;P;P;P;P;P;P;P;P;P;D	0.68765	0.833;0.766;0.91;0.805;0.766;0.91;0.91;0.844;0.766;0.91;0.96;0.854;0.805;0.766;0.766;0.689;0.805;0.766;0.689;0.766;0.96	T	0.10567	-1.0624	10	0.66056	D	0.02	-4.5596	8.8516	0.35203	0.0:0.8176:0.0:0.1824	.	138;138;138;138;138;138;138;138;138;138;138;138;138;138;138;138;138;138;138;138;138	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	T	138	ENSP00000403888:P138T;ENSP00000320784:P138T;ENSP00000355596:P138T;ENSP00000443996:P138T;ENSP00000440909:P138T;ENSP00000355593:P138T;ENSP00000440953:P138T;ENSP00000295051:P138T;ENSP00000441193:P138T	ENSP00000295051:P138T	P	+	1	0	DISC1	229896539	0.004000	0.15560	0.298000	0.25002	0.195000	0.23768	0.585000	0.23879	1.285000	0.44548	0.609000	0.83330	CCT		0.612	DISC1-002	KNOWN	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000092352.2	NM_018662		35	59	1	0	2.80507e-11	1	3.12613e-11	35	59				
OR2T12	127064	broad.mit.edu	37	1	248458349	248458349	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:248458349C>T	ENST00000317996.1	-	1	531	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E178*(1)|p.E178K(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACGGGGGCCTCGCAGAAGAAG	0.567																																						ENST00000317996.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.E178*(1)|p.E178K(1)	lung(1)|endometrium(1)	endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(532-534)Gag>Aag		olfactory receptor, family 2, subfamily T, member 12							158.0	123.0	135.0					1																	248458349		2201	4298	6499	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458349C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.532G>A	1.37:g.248458349C>T	ENSP00000324583:p.Glu178Lys						p.E178K	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	531	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		178						Missense_Mutation	SNP	ENST00000317996.1	37	c.532G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	18.27	3.588010	0.66105	.	.	ENSG00000177201	ENST00000317996	T	0.00202	8.56	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35495	U	0.003180	T	0.00637	0.0021	M	0.93550	3.43	0.39776	D	0.972236	D	0.76494	0.999	D	0.65874	0.939	T	0.62388	-0.6865	10	0.87932	D	0	.	10.5912	0.45310	0.0:1.0:0.0:0.0	.	178	Q8NG77	O2T12_HUMAN	K	178	ENSP00000324583:E178K	ENSP00000324583:E178K	E	-	1	0	OR2T12	246524972	1.000000	0.71417	0.141000	0.22245	0.280000	0.26924	1.572000	0.36461	0.645000	0.30675	0.175000	0.17021	GAG		0.567	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		40	145	0	0	0	1	0	40	145				
SORCS1	114815	broad.mit.edu	37	10	108716285	108716285	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr10:108716285C>G	ENST00000263054.6	-	2	619	c.612G>C	c.(610-612)gaG>gaC	p.E204D	SORCS1_ENST00000344440.6_Missense_Mutation_p.E204D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	204					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAAGCGAGCTCTCTGTGATGC	0.418																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(610-612)gaG>gaC		sortilin-related VPS10 domain containing receptor 1							142.0	131.0	135.0					10																	108716285		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108716285C>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.612G>C	10.37:g.108716285C>G	ENSP00000263054:p.Glu204Asp					SORCS1_ENST00000344440.6_Missense_Mutation_p.E204D	p.E204D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	2	619	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	204					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.612G>C	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905119	0.52333	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.35236	1.32;1.32	5.76	5.76	0.90799	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	M	0.68952	2.095	0.34711	D	0.727737	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.994;0.997	P;D;D;P;D	0.65010	0.855;0.931;0.931;0.855;0.931	T	0.64322	-0.6435	9	.	.	.	-29.5426	13.1211	0.59327	0.0:0.8865:0.0:0.1135	.	204;204;204;204;204	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	D	204	ENSP00000263054:E204D;ENSP00000345964:E204D	.	E	-	3	2	SORCS1	108706275	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	1.504000	0.35726	2.871000	0.98454	0.655000	0.94253	GAG		0.418	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		35	54	0	0	0	1	0	35	54				
GPRC6A	222545	broad.mit.edu	37	6	117128089	117128089	+	Missense_Mutation	SNP	C	C	T	rs368860950		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:117128089C>T	ENST00000310357.3	-	3	800	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R260Q|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R260Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	260					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTCAGTGTCCGATTGATTCT	0.363																																						ENST00000310357.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(778-780)cGg>cAg		G protein-coupled receptor, family C, group 6, member A		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	90.0	89.0		779	3.8	1.0	6		89	0,8598		0,0,4299	no	missense	GPRC6A	NM_148963.2	43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	260/927	117128089	1,13003	2203	4299	6502	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117128089C>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.779G>A	6.37:g.117128089C>T	ENSP00000309493:p.Arg260Gln					GPRC6A_ENST00000530250.1_Missense_Mutation_p.R260Q|GPRC6A_ENST00000368549.3_Missense_Mutation_p.R260Q	p.R260Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	800	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	260					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.779G>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.365791	0.01235	2.27E-4	0.0	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.90955	-1.7;-1.7;-2.76	6.17	3.8	0.43715	Extracellular ligand-binding receptor (1);	0.455997	0.19029	N	0.124602	T	0.56470	0.1987	N	0.08118	0	0.21386	N	0.999708	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.48833	-0.9000	10	0.02654	T	1	.	9.6458	0.39865	0.0:0.2101:0.0:0.7899	.	260;260;260	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	Q	260	ENSP00000309493:R260Q;ENSP00000357537:R260Q;ENSP00000433465:R260Q	ENSP00000309493:R260Q	R	-	2	0	GPRC6A	117234782	0.069000	0.21087	1.000000	0.80357	0.119000	0.20118	0.478000	0.22212	0.559000	0.29153	-0.294000	0.09567	CGG		0.363	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			14	125	0	0	0	1	0	14	125				
SLC5A10	125206	broad.mit.edu	37	17	18923032	18923032	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:18923032T>C	ENST00000395645.3	+	13	1435	c.1417T>C	c.(1417-1419)Ttc>Ctc	p.F473L	SLC5A10_ENST00000395647.2_Missense_Mutation_p.F489L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.F443L|SLC5A10_ENST00000417251.2_Missense_Mutation_p.F437L|SLC5A10_ENST00000317977.6_Missense_Mutation_p.F443L|SLC5A10_ENST00000395643.2_Missense_Mutation_p.F446L	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	473					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCAGGGGGCCTTCTGGGGCCT	0.687																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(1327-1329)Ttc>Ctc		solute carrier family 5 (sodium/sugar cotransporter), member 10							15.0	18.0	17.0					17																	18923032		2203	4297	6500	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18923032T>C		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1417T>C	17.37:g.18923032T>C	ENSP00000379007:p.Phe473Leu					SLC5A10_ENST00000395645.3_Missense_Mutation_p.F473L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.F443L|SLC5A10_ENST00000395643.2_Missense_Mutation_p.F446L|SLC5A10_ENST00000417251.2_Missense_Mutation_p.F437L|SLC5A10_ENST00000395647.2_Missense_Mutation_p.F489L	p.F443L			A0PJK1	SC5AA_HUMAN			13	1898	+			473					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.1327T>C	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	T	31	5.094292	0.94149	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.86497	-1.9;-1.9;-1.9;-2.13;-1.9;-1.9	4.59	4.59	0.56863	Sodium/solute symporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90611	0.7056	L	0.51853	1.615	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.994;0.995;0.994;0.997	D;D;D;D;D	0.68765	0.957;0.928;0.957;0.928;0.96	D	0.91240	0.5021	10	0.59425	D	0.04	.	13.933	0.64007	0.0:0.0:0.0:1.0	.	437;446;473;489;443	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	L	443;489;443;437;473;446	ENSP00000324346:F443L;ENSP00000379008:F489L;ENSP00000379004:F443L;ENSP00000401875:F437L;ENSP00000379007:F473L;ENSP00000379005:F446L	ENSP00000324346:F443L	F	+	1	0	SLC5A10	18863757	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.886000	0.87288	1.840000	0.53500	0.459000	0.35465	TTC		0.687	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		4	42	0	0	0	1	0	4	42				
PCBP3	54039	broad.mit.edu	37	21	47333995	47333995	+	Intron	SNP	A	A	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr21:47333995A>C	ENST00000400314.1	+	10	1013				PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400304.1_Missense_Mutation_p.H212P|PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400310.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3						mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTACTGCAGCACCCGCCGCTG	0.627																																						ENST00000400304.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(634-636)cAc>cCc		poly(rC) binding protein 3							17.0	24.0	22.0					21																	47333995		691	1589	2280	SO:0001627	intron_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47333995A>C	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.675+56A>C	21.37:g.47333995A>C						PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000468429.1_Intron	p.H212P			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	7	635	+	all_hematologic(128;0.24)		225					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.635A>C	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513211	0.27123	.	.	ENSG00000183570	ENST00000400304	T	0.48522	0.81	4.95	2.7	0.31948	.	0.165376	0.24041	U	0.042092	T	0.33527	0.0866	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07462	-1.0771	9	0.35671	T	0.21	.	7.244	0.26112	0.741:0.1764:0.0826:0.0	.	212	E9PFP8	.	P	212	ENSP00000383159:H212P	ENSP00000383159:H212P	H	+	2	0	PCBP3	46158423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.683000	0.68189	0.324000	0.23333	0.460000	0.39030	CAC		0.627	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			15	35	0	0	0	1	0	15	35				
ACRBP	84519	broad.mit.edu	37	12	6753641	6753641	+	Silent	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:6753641C>T	ENST00000229243.2	-	5	699	c.606G>A	c.(604-606)gaG>gaA	p.E202E	ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000414226.2_Silent_p.E169E|ACRBP_ENST00000536350.1_Silent_p.E202E	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CCTGCCTGTGCTCCACTCCTT	0.567																																						ENST00000229243.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						c.(604-606)gaG>gaA		acrosin binding protein							155.0	131.0	139.0					12																	6753641		2203	4300	6503	SO:0001819	synonymous_variant	84519					acrosomal vesicle|extracellular region		g.chr12:6753641C>T	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.606G>A	12.37:g.6753641C>T						ACRBP_ENST00000536350.1_Silent_p.E202E|ACRBP_ENST00000414226.2_Silent_p.E169E	p.E202E	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN			5	699	-			202						Silent	SNP	ENST00000229243.2	37	c.606G>A	CCDS8554.1																																																																																				0.567	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		41	172	0	0	0	1	0	41	172				
LRP1	4035	broad.mit.edu	37	12	57602910	57602910	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:57602910G>T	ENST00000243077.3	+	79	12656	c.12190G>T	c.(12190-12192)Gcc>Tcc	p.A4064S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4064					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGCAGACGCCAAGCTTTC	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(12190-12192)Gcc>Tcc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						76.0	63.0	68.0					12																	57602910		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57602910G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12190G>T	12.37:g.57602910G>T	ENSP00000243077:p.Ala4064Ser						p.A4064S	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	79	12656	+			4064					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.12190G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110633	0.37242	.	.	ENSG00000123384	ENST00000243077	D	0.95690	-3.78	4.94	4.94	0.65067	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.168215	0.38548	N	0.001652	D	0.92021	0.7472	L	0.38531	1.155	0.80722	D	1	P	0.37352	0.591	B	0.34346	0.18	D	0.91632	0.5319	10	0.38643	T	0.18	.	17.0928	0.86627	0.0:0.0:1.0:0.0	.	4064	Q07954	LRP1_HUMAN	S	4064	ENSP00000243077:A4064S	ENSP00000243077:A4064S	A	+	1	0	LRP1	55889177	1.000000	0.71417	0.982000	0.44146	0.609000	0.37215	7.465000	0.80898	2.584000	0.87258	0.462000	0.41574	GCC		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	88	1	0	0.00188189	1	0.00193417	19	88				
CNOT8	9337	broad.mit.edu	37	5	154250226	154250226	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr5:154250226A>G	ENST00000517876.1	+	5	793	c.317A>G	c.(316-318)gAc>gGc	p.D106G	CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000285896.6_Missense_Mutation_p.D106G|CNOT8_ENST00000521450.1_5'UTR|CNOT8_ENST00000523698.1_5'UTR|CNOT8_ENST00000403027.2_Missense_Mutation_p.D106G|CNOT8_ENST00000520671.1_5'UTR|CNOT8_ENST00000521583.1_5'UTR			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	106					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTAGAGAGGACATGTACTCC	0.393																																					NSCLC(140;1804 1895 27149 29895 35312)	ENST00000517876.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(316-318)gAc>gGc		CCR4-NOT transcription complex, subunit 8							123.0	116.0	118.0					5																	154250226		2203	4300	6503	SO:0001583	missense	9337				negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:154250226A>G	AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.317A>G	5.37:g.154250226A>G	ENSP00000430493:p.Asp106Gly					CNOT8_ENST00000521583.1_5'UTR|CNOT8_ENST00000521450.1_5'UTR|CNOT8_ENST00000520671.1_5'UTR|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000523698.1_5'UTR|CNOT8_ENST00000403027.2_Missense_Mutation_p.D106G|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000285896.6_Missense_Mutation_p.D106G	p.D106G			Q9UFF9	CNOT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	793	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	106					B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Missense_Mutation	SNP	ENST00000517876.1	37	c.317A>G	CCDS4329.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.833278	0.91036	.	.	ENSG00000155508	ENST00000517876;ENST00000520472;ENST00000519211;ENST00000403027;ENST00000517568;ENST00000285896;ENST00000542339	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	5.54	5.54	0.83059	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81118	-0.1078	10	0.87932	D	0	-20.7976	15.6768	0.77332	1.0:0.0:0.0:0.0	.	106	Q9UFF9	CNOT8_HUMAN	G	106;106;106;106;106;106;83	ENSP00000430493:D106G;ENSP00000430215:D106G;ENSP00000429108:D106G;ENSP00000384747:D106G;ENSP00000428090:D106G;ENSP00000285896:D106G	ENSP00000285896:D106G	D	+	2	0	CNOT8	154230419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.731000	0.91529	2.102000	0.63906	0.454000	0.30748	GAC		0.393	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1	NM_004779		37	110	0	0	0	1	0	37	110				
HSPG2	3339	broad.mit.edu	37	1	22163405	22163405	+	Silent	SNP	G	G	C	rs371778068	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:22163405G>C	ENST00000374695.3	-	75	10324	c.10245C>G	c.(10243-10245)gcC>gcG	p.A3415A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3415	Ig-like C2-type 20.				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)	ACTCAACGCTGGCCCCAATGC	0.667																																						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.(10243-10245)gcC>gcG		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						58.0	47.0	50.0					1																	22163405		2189	4288	6477	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22163405G>C	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.10245C>G	1.37:g.22163405G>C							p.A3415A	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)	75	10324	-		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)	3415			Ig-like C2-type 20.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.10245C>G	CCDS30625.1																																																																																				0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		3	8	0	0	0	1	0	3	8				
ZNF461	92283	broad.mit.edu	37	19	37129598	37129598	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:37129598A>T	ENST00000588268.1	-	6	1876	c.1649T>A	c.(1648-1650)gTc>gAc	p.V550D	ZNF461_ENST00000360357.4_Missense_Mutation_p.V527D|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	550					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)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGGAAACCTGACTGGCTTCTC	0.378																																						ENST00000588268.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(1648-1650)gTc>gAc		zinc finger protein 461							47.0	49.0	49.0					19																	37129598		1952	4157	6109	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129598A>T	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1649T>A	19.37:g.37129598A>T	ENSP00000467931:p.Val550Asp					ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.V527D	p.V550D	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1876	-	Esophageal squamous(110;0.198)		550					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.1649T>A	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.553632	0.45487	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.15603	2.41	3.16	0.784	0.18578	.	.	.	.	.	T	0.10981	0.0268	L	0.28400	0.85	0.31759	N	0.633556	P;D;P	0.56521	0.678;0.976;0.808	B;B;B	0.41619	0.158;0.361;0.158	T	0.24905	-1.0147	9	0.87932	D	0	.	4.993	0.14224	0.4601:0.3632:0.0:0.1767	.	527;472;550	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	D	550;527;423;244	ENSP00000353515:V527D	ENSP00000353515:V527D	V	-	2	0	ZNF461	41821438	0.991000	0.36638	0.065000	0.19835	0.175000	0.22909	1.461000	0.35255	-0.027000	0.13873	0.459000	0.35465	GTC		0.378	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		7	44	0	0	0	1	0	7	44				
POF1B	79983	broad.mit.edu	37	X	84585990	84585990	+	Silent	SNP	G	G	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:84585990G>A	ENST00000262753.4	-	7	964	c.819C>T	c.(817-819)caC>caT	p.H273H	POF1B_ENST00000373145.3_Silent_p.H273H	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	273						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTAATAAGCAGTGATATAGAT	0.378																																						ENST00000262753.4																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(817-819)caC>caT		premature ovarian failure, 1B							105.0	91.0	96.0					X																	84585990		2203	4300	6503	SO:0001819	synonymous_variant	79983						actin binding	g.chrX:84585990G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.819C>T	X.37:g.84585990G>A						POF1B_ENST00000373145.3_Silent_p.H273H	p.H273H	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			7	964	-			273					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	37	c.819C>T	CCDS14452.1																																																																																				0.378	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		36	99	0	0	0	1	0	36	99				
MAPT	4137	broad.mit.edu	37	17	44060805	44060805	+	Missense_Mutation	SNP	C	C	T	rs368295974		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:44060805C>T	ENST00000571987.1	+	5	635	c.635C>T	c.(634-636)cCg>cTg	p.P212L	MAPT_ENST00000576518.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.P212L|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.P212L|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P212L|MAPT_ENST00000347967.5_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	212					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	AAAGAGAGGCCGGGGAGCAAG	0.692																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(634-636)cCg>cTg		microtubule-associated protein tau		C	LEU/PRO,,,,,,LEU/PRO,	0,4392		0,0,2196	30.0	21.0	24.0		635,,,,,,635,	-10.9	0.0	17		24	1,8591		0,1,4295	no	missense,intron,intron,intron,intron,intron,missense,intron	MAPT	NM_001123066.3,NM_001123067.3,NM_001203251.1,NM_001203252.1,NM_005910.5,NM_016834.4,NM_016835.4,NM_016841.4	98,,,,,,98,	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign,,,,,,benign,	212/777,,,,,,212/759,	44060805	1,12983	2196	4296	6492	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060805C>T	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.635C>T	17.37:g.44060805C>T	ENSP00000458742:p.Pro212Leu					MAPT_ENST00000420682.2_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.P212L|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P212L|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.P212L|MAPT_ENST00000574436.1_Intron	p.P212L	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			6	957	+		Melanoma(429;0.216)	212					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.635C>T	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381627	0.24944	0.0	1.16E-4	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.07327	3.2;3.2;3.2	5.46	-10.9	0.00192	.	2.155680	0.02158	N	0.058522	T	0.02342	0.0072	N	0.02539	-0.55	0.20821	N	0.999843	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32322	-0.9911	10	0.12766	T	0.61	1.1067	5.3629	0.16098	0.178:0.487:0.0958:0.2392	.	212;212	P10636-9;P10636	.;TAU_HUMAN	L	212	ENSP00000340820:P212L;ENSP00000262410:P212L;ENSP00000410838:P212L	ENSP00000262410:P212L	P	+	2	0	MAPT	41416642	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.169000	0.03120	-2.671000	0.00414	-2.069000	0.00389	CCG		0.692	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		14	44	0	0	0	1	0	14	44				
MYCT1	80177	broad.mit.edu	37	6	153043080	153043080	+	Nonsense_Mutation	SNP	C	C	T	rs371983005		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:153043080C>T	ENST00000367245.5	+	2	408	c.400C>T	c.(400-402)Cga>Tga	p.R134*	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	134						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CTGTGAACGTCGAAGCAACCT	0.498																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(400-402)Cga>Tga		myc target 1		C	stop/ARG	0,4406		0,0,2203	106.0	104.0	104.0		400	1.6	0.0	6		104	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	MYCT1	NM_025107.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		134/236	153043080	1,13005	2203	4300	6503	SO:0001587	stop_gained	80177					nucleus		g.chr6:153043080C>T	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.400C>T	6.37:g.153043080C>T	ENSP00000356214:p.Arg134*					MYCT1_ENST00000529453.1_Intron	p.R134*	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	408	+		Ovarian(120;0.0654)	134					Q8N396|Q8TBE8|Q9H763	Nonsense_Mutation	SNP	ENST00000367245.5	37	c.400C>T	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179981	0.78564	0.0	1.16E-4	ENSG00000120279	ENST00000367245	.	.	.	5.78	1.65	0.23941	.	0.059848	0.64402	D	0.000002	.	.	.	.	.	.	0.51767	D	0.999932	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.6811	15.4773	0.75493	0.409:0.591:0.0:0.0	.	.	.	.	X	134	.	ENSP00000356214:R134X	R	+	1	2	MYCT1	153084773	0.988000	0.35896	0.006000	0.13384	0.988000	0.76386	2.840000	0.48215	0.307000	0.22880	0.579000	0.79373	CGA		0.498	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		53	142	0	0	0	1	0	53	142				
DAGLA	747	broad.mit.edu	37	11	61505662	61505662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:61505662C>T	ENST00000257215.5	+	16	1755	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	547					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGTCCTGCAGCGAAGCACCAA	0.642																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1639-1641)Cga>Tga		diacylglycerol lipase, alpha							52.0	49.0	50.0					11																	61505662		2202	4299	6501	SO:0001587	stop_gained	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61505662C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1639C>T	11.37:g.61505662C>T	ENSP00000257215:p.Arg547*						p.R547*	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	16	1755	+			547					A7E233|Q6WQJ0	Nonsense_Mutation	SNP	ENST00000257215.5	37	c.1639C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	39	7.333486	0.98217	.	.	ENSG00000134780	ENST00000257215	.	.	.	4.24	3.29	0.37713	.	0.058263	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6492	11.0808	0.48059	0.5218:0.4782:0.0:0.0	.	.	.	.	X	547	.	ENSP00000257215:R547X	R	+	1	2	DAGLA	61262238	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	4.132000	0.57977	0.857000	0.35407	0.313000	0.20887	CGA		0.642	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		19	60	0	0	0	1	0	19	60				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			284729							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			7	17						7	17	---	---	---	---
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgcctc>tgc	p.L137del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	137					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(394-399)tgc>tg		exostosin-like glycosyltransferase 1																																				SO:0001651	inframe_deletion	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349533_26349535delCCT	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.396_398delCCT	1.37:g.26349542_26349544delCCT	ENSP00000363398:p.Leu137del						p.CL132del	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1263_1265	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	132					Q6GSC1	In_Frame_Del	DEL	ENST00000374280.3	37	c.396_398delCCT	CCDS271.1																																																																																				0.606	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		9	159						9	159	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	p.P344fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		12	396						12	396	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120458389	120458389	+	Frame_Shift_Del	DEL	G	G	-	rs373527990		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:120458389delG	ENST00000256646.2	-	34	7175	c.6956delC	c.(6955-6957)gcgfs	p.A2319fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2319					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAGCCCCCGCTGGTTGGGC	0.622			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(6955-6957)ggfs		notch 2							44.0	52.0	49.0					1																	120458389		2203	4300	6503	SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120458389delG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6956delC	1.37:g.120458389delG	ENSP00000256646:p.Ala2319fs						p.A2319fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	7175	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2319					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.6956delC	CCDS908.1																																																																																				0.622	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		16	165						16	165	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		7	155						7	155	---	---	---	---
GNPAT	8443	broad.mit.edu	37	1	231396328	231396330	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr1:231396328_231396330delAAA	ENST00000366647.4	+	3	506_508	c.337_339delAAA	c.(337-339)aaadel	p.K113del	GNPAT_ENST00000366646.3_In_Frame_Del_p.K52del	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	113					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AATGAGTCACAAACTGCGTCTTG	0.414																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(337-339)del		glyceronephosphate O-acyltransferase																																				SO:0001651	inframe_deletion	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231396328_231396330delAAA	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.337_339delAAA	1.37:g.231396328_231396330delAAA	ENSP00000355607:p.Lys113del					GNPAT_ENST00000366646.3_In_Frame_Del_p.K52del	p.K113del	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			3	506_508	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	113					B4DNM9|Q5TBH7|Q9BWC2	In_Frame_Del	DEL	ENST00000366647.4	37	c.337_339delAAA	CCDS1592.1																																																																																				0.414	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			71	583						71	583	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179395925	179395925	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:179395925delG	ENST00000591111.1	-	308	100718	c.100494delC	c.(100492-100494)accfs	p.T33498fs	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.T26199fs|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.T26074fs|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.T26266fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.T35139fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.T32571fs|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33498	Ig-like 147.				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)			CCTCGTAGACGGTCATGGACC	0.483																																						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.(105415-105417)acfs		titin							153.0	163.0	160.0					2																	179395925		1981	4155	6136	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395925delG	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.100494delC	2.37:g.179395925delG	ENSP00000465570:p.Thr33498fs					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.T33498fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.T32571fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.T26199fs|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.T26074fs|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.T26266fs|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA	p.T35139fs	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)		358	105641	-			33498					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.105417delC																																																																																					0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		88	370						88	370	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					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)	p.L16I(1)		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)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	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.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	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)	2	175_177	+		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)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		7	245						7	245	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113951739	113951739	+	IGR	DEL	C	C	-	rs398052210|rs377674793|rs71633344	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr3:113951739delC	ENST00000482457.2	-	0	2939				RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTGCCCCCTGCCCCCCCCCCA	0.652													|||unknown(HR)	2551	0.509385	0.6263	0.5	5008	,	,		15484	0.3006		0.5507	False		,,,				2504	0.5307				GBM(23;986 1114 21716)	ENST00000493033.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:113951739delC	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332		3.37:g.113951739delC						RP11-553L6.2_ENST00000481773.1_RNA								0	160	+								Q6NSW4|Q6NT14	RNA	DEL	ENST00000482457.2	37		CCDS2979.1																																																																																				0.652	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		5	1						5	1	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76715077	76715086	+	Frame_Shift_Del	DEL	GTCTGTAGCT	GTCTGTAGCT	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr6:76715077_76715086delGTCTGTAGCT	ENST00000369950.3	-	10	1242_1251	c.1053_1062delAGCTACAGAC	c.(1051-1062)acagctacagacfs	p.TATD351fs	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.D354A(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCCTTTTGAGGTCTGTAGCTGTGAGATAGA	0.429																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			1	Substitution - Missense(1)	p.D354A(1)	lung(1)	breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1051-1062)acfs		interphotoreceptor matrix proteoglycan 1																																				SO:0001589	frameshift_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76715077_76715086delGTCTGTAGCT	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1053_1062delAGCTACAGAC	6.37:g.76715077_76715086delGTCTGTAGCT	ENSP00000358966:p.Thr351fs					IMPG1_ENST00000369963.3_3'UTR	p.TATD351fs	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			10	1242_1251	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	351						Frame_Shift_Del	DEL	ENST00000369950.3	37	c.1053_1062delAGCTACAGAC	CCDS4985.1																																																																																				0.429	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		7	155						7	155	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	667						7	667	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	143						7	143	---	---	---	---
DEFB108B	245911	broad.mit.edu	37	11	71548597	71548597	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr11:71548597delA	ENST00000328698.1	+	2	211	c.211delA	c.(211-213)aaafs	p.K72fs	DEFB108B_ENST00000529157.1_3'UTR	NM_001002035.1	NP_001002035.1	Q8NET1	D108B_HUMAN	defensin, beta 108B	72					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CACTACACCCAAAAAGGACTG	0.458																																						ENST00000328698.1																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(211-213)aafs		defensin, beta 108B							65.0	69.0	67.0					11																	71548597		2200	4291	6491	SO:0001589	frameshift_variant	245911				defense response to bacterium	extracellular region		g.chr11:71548597delA	AF529416	CCDS31631.1	11q13.4	2011-03-29			ENSG00000184276	ENSG00000184276		"""Defensins, beta"""	29966	protein-coding gene	gene with protein product							Standard	NM_001002035		Approved		uc010rqr.2	Q8NET1	OTTHUMG00000167533	ENST00000328698.1:c.211delA	11.37:g.71548597delA	ENSP00000333234:p.Lys72fs					DEFB108B_ENST00000529157.1_3'UTR	p.K72fs	NM_001002035.1	NP_001002035.1	Q8NET1	D108B_HUMAN			2	211	+			72						Frame_Shift_Del	DEL	ENST00000328698.1	37	c.211delA	CCDS31631.1																																																																																				0.458	DEFB108B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394945.1	NM_001002035		7	1731						7	1731	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:46320707_46320708delTC	ENST00000369367.3	-	11	3009_3010	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_ENST00000465950.1_Frame_Shift_Del_p.E611fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1831-1833)afs		SR-related CTD-associated factor 11																																				SO:0001589	frameshift_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320707_46320708delTC	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2776_2777delGA	12.37:g.46320717_46320718delTC	ENSP00000358374:p.Glu926fs					SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs	p.E611fs			Q99590	SCAFB_HUMAN			1	3040_3041	-			926					A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	c.1831_1832delGA	CCDS8748.2																																																																																				0.446	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	266						8	266	---	---	---	---
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A	rs199863727	byFrequency	TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.Y143fs|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.Y221fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.I159fs	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351																																						ENST00000358230.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.(520-522)tagfs		transmembrane BAX inhibitor motif containing 4																																				SO:0001589	frameshift_variant	51643					integral to membrane	protein binding	g.chr12:66531936_66531937insA	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.521dupT	12.37:g.66531946_66531946dupA	ENSP00000350965:p.Tyr174fs					TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000539652.1_Intron	p.*174fs	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	640_641	-			174					Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Ins	INS	ENST00000358230.3	37	c.520_521insT	CCDS41805.1																																																																																				0.351	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		11	268						11	268	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)agcdel	p.S45del	THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)del		zinc finger, C3H1-type containing				2,34,3866		0,0,2,4,26,1919						4.0	1.0			58	1,83,7932		0,0,1,9,65,3933	no	codingComplex	ZFC3H1	NM_144982.4		0,0,3,13,91,5852	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0479,0.9226,1.0069				3,117,11798				SO:0001651	inframe_deletion	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057256_72057258delGCT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133_135delAGC	12.37:g.72057265_72057267delGCT	ENSP00000368017:p.Ser45del		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR	p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491_493	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	In_Frame_Del	DEL	ENST00000378743.3	37	c.133_135delAGC	CCDS41813.1																																																																																				0.631	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		13	1377						13	1377	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		14	1718						14	1718	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-	rs371633333		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gccgct>gct	p.162_163AA>A		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTCCACCgcagcggcggcggcgg	0.749																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(484-489)gct>gc		interferon regulatory factor 2 binding protein-like																																				SO:0001651	inframe_deletion	64207					nucleus		g.chr14:77493648_77493650delGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.486_488delCGC	14.37:g.77493657_77493659delGCG	ENSP00000238647:p.Ala164del						p.AA162del	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1384_1386	-			162			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	c.486_488delCGC	CCDS9854.1																																																																																				0.749	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		7	20						7	20	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-	rs140499762		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_ENST00000539472.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.S436del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.S557del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.S557del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.S436del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.S522del	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(1759-1764)gcc>gc		solute carrier family 5 (sodium/inositol cotransporter), member 11				0,59,4205		0,0,0,0,59,2073						2.3	0.0		dbSNP_134	91	12,151,8089		0,0,12,0,151,3963	no	codingComplex	SLC5A11	NM_052944.2		0,0,12,0,210,6036	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9753,1.3837,1.7737				12,210,12294				SO:0001651	inframe_deletion	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24921737_24921739delCAG	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1761_1763delCAG	16.37:g.24921746_24921748delCAG	ENSP00000289932:p.Ser592del					SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del	p.AS587del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	15	2383_2385	+			587						In_Frame_Del	DEL	ENST00000347898.3	37	c.1761_1763delCAG	CCDS10625.1																																																																																				0.542	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		7	216						7	216	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		7	136						7	136	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			10	88						10	88	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1369-1374)gcagfs		formin homology 2 domain containing 3																																				SO:0001589	frameshift_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261459_34261460delAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs					FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs	p.AE457fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			12	1493_1494	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	457					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37	c.1371_1372delAG																																																																																					0.460	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		7	163						7	163	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		9	239						9	239	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_ENST00000542837.1_In_Frame_Del_p.E466del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_In_Frame_Del_p.E173del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2128-2133)gac>ga		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001651	inframe_deletion	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935681_47935683delTCC	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2130_2132delGGA	19.37:g.47935690_47935692delTCC	ENSP00000236877:p.Glu710del					SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000601757.1_5'UTR	p.ED710del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2525_2527	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	710					B4DYQ9	In_Frame_Del	DEL	ENST00000236877.6	37	c.2130_2132delGGA	CCDS33065.1																																																																																				0.616	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			9	203						9	203	---	---	---	---
MATN4	8785	broad.mit.edu	37	20	43926821	43926822	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr20:43926821_43926822delGC	ENST00000372754.1	-	7	1545_1546	c.1537_1538delGC	c.(1537-1539)gccfs	p.A513fs	MATN4_ENST00000537548.1_Frame_Shift_Del_p.A472fs|MATN4_ENST00000353917.5_Frame_Shift_Del_p.A390fs|MATN4_ENST00000372751.4_Frame_Shift_Del_p.A323fs|MATN4_ENST00000360607.6_Frame_Shift_Del_p.A431fs|MATN4_ENST00000342716.4_Frame_Shift_Del_p.A472fs|MATN4_ENST00000372756.1_Frame_Shift_Del_p.A472fs			O95460	MATN4_HUMAN	matrilin 4	513	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TTCCTCCTTGGCGCGCGCTGCC	0.683																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1414-1416)cfs		matrilin 4																																				SO:0001589	frameshift_variant	8785					extracellular region	protein binding	g.chr20:43926821_43926822delGC	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1537_1538delGC	20.37:g.43926827_43926828delGC	ENSP00000361840:p.Ala513fs					MATN4_ENST00000372751.4_Frame_Shift_Del_p.A323fs|MATN4_ENST00000372756.1_Frame_Shift_Del_p.A472fs|MATN4_ENST00000372754.1_Frame_Shift_Del_p.A513fs|MATN4_ENST00000353917.5_Frame_Shift_Del_p.A390fs|MATN4_ENST00000342716.4_Frame_Shift_Del_p.A472fs|MATN4_ENST00000360607.5_Frame_Shift_Del_p.A431fs|MATN4_ENST00000372753.1_Frame_Shift_Del_p.A323fs	p.A472fs			O95460	MATN4_HUMAN			8	1658_1659	-		Myeloproliferative disorder(115;0.0122)	513			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Frame_Shift_Del	DEL	ENST00000372754.1	37	c.1414_1415delGC																																																																																					0.683	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			21	165						21	165	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.3_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(73-75)aafs		CCCTC-binding factor (zinc finger protein)-like							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs	p.K25fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	736	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		7	941						7	941	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-	rs556869373		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E|RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1099-1104)gaa>ga		Ran GTPase activating protein 1																																				SO:0001651	inframe_deletion	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650469_41650471delTCC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1101_1103delGGA	22.37:g.41650478_41650480delTCC	ENSP00000401470:p.Glu368del					RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del	p.EE367del			P46060	RAGP1_HUMAN			10	2570_2572	-			367			Asp/Glu-rich (highly acidic).		Q96JJ2	In_Frame_Del	DEL	ENST00000455915.2	37	c.1101_1103delGGA	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		7	319						7	319	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67433776	67433777	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:67433776_67433777insA	ENST00000355520.5	-	7	1165_1166	c.524_525insT	c.(523-525)ttcfs	p.F175fs	OPHN1_ENST00000540071.1_Frame_Shift_Ins_p.F175fs	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	175					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GAGAGGACTCGAAAAAATTGTG	0.381																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(523-525)tgafs		oligophrenin 1																																				SO:0001589	frameshift_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67433776_67433777insA	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.525dupT	X.37:g.67433782_67433782dupA	ENSP00000347710:p.Phe175fs					OPHN1_ENST00000540071.1_Frame_Shift_Ins_p.*175fs	p.*175fs	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			7	1165_1166	-			175					B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Frame_Shift_Ins	INS	ENST00000355520.5	37	c.524_525insT	CCDS14388.1																																																																																				0.381	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		8	49						8	49	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		15	549						15	549	---	---	---	---
FAM58A	92002	broad.mit.edu	37	X	152864477	152864478	+	Splice_Site	INS	-	-	C	rs371528168|rs199537978		TCGA-CR-7383-01A-11D-2129-08	TCGA-CR-7383-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203629ed-2791-4e22-a9da-be647b0cdef5	62ea230c-402e-4a2d-b617-f909b4fad7d7	g.chrX:152864477_152864478insC	ENST00000406277.2	-	2	152_153	c.50_51insG	c.(49-51)ggc>ggGc	p.G17fs	RP11-66N11.8_ENST00000562749.1_RNA|RP11-66N11.8_ENST00000569906.1_RNA|FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	0					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)					endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCGGCTGCCCTCCGGGCC	0.782													?|CCC|CCCC|unsure	3775	1.0	0.7587	0.755	3775	,	,		3982	0.7579		0.7614	False		,,,				2504	0.7342					ENST00000406277.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6						c.e2+1		family with sequence similarity 58, member A			,	2202,122		978,16,230,42,22					,	-0.3	0.0			2	4125,202		1580,22,943,56,68	no	frameshift,frameshift	FAM58A	NM_152274.3,NM_001130997.1	,	2558,38,1173,98,90	A1A1,A1R,A1,RR,R		4.6684,5.2496,4.8714	,	,		6327,324				SO:0001630	splice_region_variant	92002				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chrX:152864477_152864478insC	BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"""cyclin M"""	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.51+1->G	X.37:g.152864480_152864480dupC						FAM58A_ENST00000370175.4_5'UTR	p.A17_splice	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN			2	152_153	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		18					Q2I380|Q330J9|Q96IU5|Q9BUU1	Splice_Site	INS	ENST00000406277.2	37	c.51_splice																																																																																					0.782	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152274	Frame_Shift_Ins	7	8						7	8	---	---	---	---
