#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
DCUN1D1	54165	broad.mit.edu	37	3	182665102	182665102	+	Silent	SNP	T	T	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:182665102T>G	ENST00000292782.4	-	6	777	c.624A>C	c.(622-624)atA>atC	p.I208I	DCUN1D1_ENST00000469954.1_Silent_p.I193I	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	208	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TGTCTTTTGGTATTGATCGTT	0.303																																						ENST00000292782.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(622-624)atA>atC		DCN1, defective in cullin neddylation 1, domain containing 1							145.0	139.0	141.0					3																	182665102		2201	4297	6498	SO:0001819	synonymous_variant	54165					ubiquitin ligase complex	protein binding	g.chr3:182665102T>G	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.624A>C	3.37:g.182665102T>G						DCUN1D1_ENST00000469954.1_Silent_p.I193I	p.I208I	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		6	777	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		208			DCUN1.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Silent	SNP	ENST00000292782.4	37	c.624A>C	CCDS3240.1																																																																																				0.303	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		4	40	0	0	0	1	0	4	40				
TMC8	147138	broad.mit.edu	37	17	76133869	76133869	+	Silent	SNP	C	C	T	rs529856329		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr17:76133869C>T	ENST00000318430.5	+	11	1697	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	TMC8_ENST00000589691.1_Silent_p.F218F	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	441					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCGTGGCCTTCGCCTTCCTGG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		19389	0.0		0.0	False		,,,				2504	0.001					ENST00000318430.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1321-1323)ttC>ttT		transmembrane channel-like 8							112.0	88.0	96.0					17																	76133869		2203	4300	6503	SO:0001819	synonymous_variant	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76133869C>T	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1323C>T	17.37:g.76133869C>T						TMC8_ENST00000589691.1_Silent_p.F218F	p.F441F	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		11	1697	+			441					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	c.1323C>T	CCDS32749.1																																																																																				0.662	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			12	75	0	0	0	1	0	12	75				
PMS2CL	441194	broad.mit.edu	37	7	6776956	6776956	+	RNA	SNP	A	A	G	rs7804542	byFrequency	TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr7:6776956A>G	ENST00000486256.1	+	0	1083					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		ATCTCTGACAAAGGCGTCCTG	0.557													G|||	1418	0.283147	0.3321	0.2219	5008	,	,		16629	0.3413		0.2078	False		,,,				2504	0.2781					ENST00000486256.1																			0																																																			441194							g.chr7:6776956A>G	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6776956A>G								NR_002217.1						0	1083	+								B4DK88|Q764P1	RNA	SNP	ENST00000486256.1	37																																																																																						0.557	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		5	71	0	0	0	1	0	5	71				
C9orf84	158401	broad.mit.edu	37	9	114500747	114500747	+	Silent	SNP	T	T	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr9:114500747T>A	ENST00000318737.4	-	10	1166	c.1038A>T	c.(1036-1038)atA>atT	p.I346I	C9orf84_ENST00000394777.4_Silent_p.I307I|C9orf84_ENST00000374287.3_Silent_p.I346I|C9orf84_ENST00000374283.5_Silent_p.I410I|C9orf84_ENST00000394779.3_Silent_p.I307I	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	346										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TAACAGAAAATATCTTTTTCA	0.333																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(919-921)atA>atT		chromosome 9 open reading frame 84							91.0	92.0	92.0					9																	114500747		2202	4299	6501	SO:0001819	synonymous_variant	158401							g.chr9:114500747T>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1038A>T	9.37:g.114500747T>A						C9orf84_ENST00000374287.3_Silent_p.I346I|C9orf84_ENST00000394777.4_Silent_p.I307I|C9orf84_ENST00000374283.5_Silent_p.I410I|C9orf84_ENST00000318737.4_Silent_p.I346I	p.I307I	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			8	1165	-			346					A2A2V3|Q2M1H8|Q96M73	Silent	SNP	ENST00000318737.4	37	c.921A>T	CCDS6781.3																																																																																				0.333	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		32	92	0	0	0	1	0	32	92				
CUBN	8029	broad.mit.edu	37	10	16873292	16873292	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr10:16873292G>A	ENST00000377833.4	-	65	10552	c.10487C>T	c.(10486-10488)tCt>tTt	p.S3496F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3496	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCACGATCAGAAGTTACACT	0.403																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10486-10488)tCt>tTt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						127.0	114.0	119.0					10																	16873292		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16873292G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10487C>T	10.37:g.16873292G>A	ENSP00000367064:p.Ser3496Phe						p.S3496F	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			65	10552	-			3496			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10487C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591862	0.46214	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.19938	2.11	4.75	4.75	0.60458	CUB (5);	0.413293	0.18075	N	0.152488	T	0.49813	0.1579	M	0.81179	2.53	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.51639	-0.8680	10	0.49607	T	0.09	.	17.9226	0.88972	0.0:0.0:1.0:0.0	.	3496	O60494	CUBN_HUMAN	F	3496;337	ENSP00000367064:S3496F	ENSP00000367064:S3496F	S	-	2	0	CUBN	16913298	0.990000	0.36364	0.086000	0.20670	0.007000	0.05969	5.967000	0.70403	2.455000	0.83008	0.561000	0.74099	TCT		0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		22	70	0	0	0	1	0	22	70				
MYO3A	53904	broad.mit.edu	37	10	26463414	26463414	+	Silent	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr10:26463414G>A	ENST00000265944.5	+	30	4387	c.4221G>A	c.(4219-4221)aaG>aaA	p.K1407K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1407					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATAACATCAAGAAGAAGGATA	0.328																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4219-4221)aaG>aaA		myosin IIIA							100.0	102.0	101.0					10																	26463414		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463414G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4221G>A	10.37:g.26463414G>A						MYO3A_ENST00000543632.1_Intron	p.K1407K	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	4387	+			1407					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.4221G>A	CCDS7148.1																																																																																				0.328	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		28	79	0	0	0	1	0	28	79				
DGKB	1607	broad.mit.edu	37	7	14647094	14647094	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr7:14647094C>A	ENST00000403951.2	-	17	1820	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H	DGKB_ENST00000444700.2_Missense_Mutation_p.Q448H|DGKB_ENST00000402815.1_Missense_Mutation_p.Q466H|DGKB_ENST00000406247.3_Missense_Mutation_p.Q467H|DGKB_ENST00000258767.5_Missense_Mutation_p.Q467H|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.Q467H|DGKB_ENST00000407950.1_Missense_Mutation_p.Q459H			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	467	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GACTGTAAACCTGACGAGGAT	0.284																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1399-1401)caG>caT		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						53.0	51.0	52.0					7																	14647094		1789	4052	5841	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14647094C>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1401G>T	7.37:g.14647094C>A	ENSP00000385780:p.Gln467His					DGKB_ENST00000402815.1_Missense_Mutation_p.Q466H|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.Q467H|DGKB_ENST00000407950.1_Missense_Mutation_p.Q459H|DGKB_ENST00000444700.2_Missense_Mutation_p.Q448H|DGKB_ENST00000406247.3_Missense_Mutation_p.Q467H|DGKB_ENST00000399322.3_Missense_Mutation_p.Q467H	p.Q467H			Q9Y6T7	DGKB_HUMAN			17	1820	-			467			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1401G>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335449	0.60853	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.6	1.65	0.23941	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.90705	3.14	0.48452	D	0.999659	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.55205	-0.8177	10	0.87932	D	0	.	8.547	0.33429	0.0:0.5522:0.0:0.4478	.	466;448;467;467	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	H	467;467;467;466;459;448;467	ENSP00000385780:Q467H;ENSP00000382260:Q467H;ENSP00000258767:Q467H;ENSP00000384909:Q466H;ENSP00000385031:Q459H;ENSP00000388451:Q448H;ENSP00000386066:Q467H	ENSP00000258767:Q467H	Q	-	3	2	DGKB	14613619	0.988000	0.35896	1.000000	0.80357	0.990000	0.78478	0.163000	0.16520	0.359000	0.24239	-0.254000	0.11334	CAG		0.284	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		6	31	1	0	0.00307968	1	0.00318587	6	31				
EIF2B3	8891	broad.mit.edu	37	1	45407265	45407265	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:45407265C>T	ENST00000360403.2	-	4	493	c.367G>A	c.(367-369)Gct>Act	p.A123T	EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Missense_Mutation_p.A123T	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	123					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					GCATCATAAGCTCTAAACAGG	0.428																																					Colon(26;357 658 2581 11857 12657)	ENST00000360403.2																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17						c.(367-369)Gct>Act		eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa							211.0	189.0	197.0					1																	45407265		2203	4300	6503	SO:0001583	missense	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45407265C>T	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.367G>A	1.37:g.45407265C>T	ENSP00000353575:p.Ala123Thr					EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Missense_Mutation_p.A123T	p.A123T	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN			4	493	-	Acute lymphoblastic leukemia(166;0.155)		123					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	c.367G>A	CCDS517.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694612	0.48202	.	.	ENSG00000070785	ENST00000360403;ENST00000372183;ENST00000372182	D;D;T	0.94330	-3.4;-3.4;-0.79	5.43	5.43	0.79202	Nucleotidyl transferase (1);	0.053359	0.64402	D	0.000001	D	0.87301	0.6143	L	0.28115	0.83	0.80722	D	1	B;B;B	0.11235	0.004;0.003;0.004	B;B;B	0.15052	0.012;0.006;0.009	T	0.81906	-0.0718	10	0.15066	T	0.55	-2.4025	12.9979	0.58657	0.0:0.9159:0.0:0.0841	.	123;123;123	Q9NR50-2;Q9NR50-3;Q9NR50	.;.;EI2BG_HUMAN	T	123	ENSP00000353575:A123T;ENSP00000361257:A123T;ENSP00000361256:A123T	ENSP00000353575:A123T	A	-	1	0	EIF2B3	45179852	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.505000	0.60421	2.552000	0.86080	0.591000	0.81541	GCT		0.428	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		20	149	0	0	0	1	0	20	149				
TMEM181	57583	broad.mit.edu	37	6	158957802	158957802	+	Silent	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr6:158957802C>G	ENST00000367090.3	+	1	335	c.324C>G	c.(322-324)ctC>ctG	p.L108L		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	108					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		AGCCCCCGCTCTGCAGCGAGC	0.701																																						ENST00000367090.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(322-324)ctC>ctG		transmembrane protein 181							15.0	20.0	19.0					6																	158957802		1951	4102	6053	SO:0001819	synonymous_variant	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:158957802C>G	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.324C>G	6.37:g.158957802C>G							p.L108L	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	1	335	+		Breast(66;0.000776)|Ovarian(120;0.0303)	108					Q5VTU1	Silent	SNP	ENST00000367090.3	37	c.324C>G	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944067	0.34283	.	.	ENSG00000146433	ENST00000314630	.	.	.	3.96	1.94	0.25998	.	.	.	.	.	T	0.51143	0.1657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55897	-0.8068	5	0.87932	D	0	.	7.5379	0.27721	0.0:0.6252:0.271:0.1038	.	.	.	.	C	50	.	ENSP00000323755:S50C	S	+	2	0	TMEM181	158877790	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.154000	0.16343	0.634000	0.30469	0.561000	0.74099	TCT		0.701	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		4	16	0	0	0	1	0	4	16				
FAM83C	128876	broad.mit.edu	37	20	33872144	33872144	+	IGR	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr20:33872144C>G	ENST00000374408.3	-	0	3145				EIF6_ENST00000374443.3_Silent_p.A49A|EIF6_ENST00000462894.1_Intron|EIF6_ENST00000374436.3_Intron|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374450.3_Intron	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C											central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTCCTGCGCACGCCTCCCCGC	0.662																																						ENST00000374443.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9						c.(145-147)gcG>gcC		eukaryotic translation initiation factor 6							45.0	51.0	49.0					20																	33872144		2203	4299	6502	SO:0001628	intergenic_variant	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33872144C>G	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332		20.37:g.33872144C>G						EIF6_ENST00000462894.1_Intron|EIF6_ENST00000374436.3_Intron|EIF6_ENST00000374450.3_Intron	p.A49A	NM_181466.2	NP_852131.1	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	196	-			52					Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	c.147G>C	CCDS13251.1																																																																																				0.662	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			20	104	0	0	0	1	0	20	104				
ZC3H4	23211	broad.mit.edu	37	19	47588319	47588319	+	Silent	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:47588319G>A	ENST00000253048.5	-	8	1138	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	367	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCACGCCCATGTCCTCGTCAT	0.537																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1099-1101)gaC>gaT		zinc finger CCCH-type containing 4							285.0	300.0	295.0					19																	47588319		2135	4228	6363	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47588319G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1101C>T	19.37:g.47588319G>A						ZC3H4_ENST00000594019.1_Intron	p.D367D	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	8	1138	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	367			Gly-rich.		Q9Y420	Silent	SNP	ENST00000253048.5	37	c.1101C>T	CCDS42582.1																																																																																				0.537	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			12	256	0	0	0	1	0	12	256				
ATP8B1	5205	broad.mit.edu	37	18	55361887	55361887	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr18:55361887A>G	ENST00000283684.4	-	10	955	c.956T>C	c.(955-957)aTa>aCa	p.I319T	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.I319T			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	319					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ATTCTTCATTATTTTAGTGTC	0.328																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(955-957)aTa>aCa		ATPase, aminophospholipid transporter, class I, type 8B, member 1							116.0	116.0	116.0					18																	55361887		2201	4298	6499	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55361887A>G	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.956T>C	18.37:g.55361887A>G	ENSP00000283684:p.Ile319Thr					RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.I319T|RP11-35G9.3_ENST00000599199.1_RNA	p.I319T	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			11	1075	-		Colorectal(73;0.229)	319					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.956T>C	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057424	0.76074	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.74209	-0.82;-0.82	4.73	4.73	0.59995	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	M	0.79805	2.47	0.58432	D	0.999999	P	0.47106	0.89	P	0.55824	0.785	D	0.86353	0.1712	10	0.87932	D	0	.	13.8942	0.63761	1.0:0.0:0.0:0.0	.	319	O43520	AT8B1_HUMAN	T	319	ENSP00000283684:I319T;ENSP00000445359:I319T	ENSP00000283684:I319T	I	-	2	0	ATP8B1	53512885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.209000	0.95087	1.779000	0.52309	0.482000	0.46254	ATA		0.328	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		6	20	0	0	0	1	0	6	20				
PALB2	79728	broad.mit.edu	37	16	23646717	23646717	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr16:23646717C>T	ENST00000261584.4	-	4	1302	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	384	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GAGGTTGCTTCCAGGCTAAGA	0.413			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1150-1152)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							119.0	119.0	119.0					16																	23646717		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646717C>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1150G>A	16.37:g.23646717C>T	ENSP00000261584:p.Glu384Lys						p.E384K	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1302	-			384					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.1150G>A	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356032	0.61293	.	.	ENSG00000083093	ENST00000261584	T	0.15952	2.38	5.97	5.03	0.67393	.	0.642376	0.15446	N	0.261945	T	0.28995	0.0720	M	0.65975	2.015	0.09310	N	1	P	0.51351	0.944	P	0.50825	0.651	T	0.11518	-1.0584	10	0.49607	T	0.09	-8.4319	10.9452	0.47296	0.0:0.915:0.0:0.085	.	384	Q86YC2	PALB2_HUMAN	K	384	ENSP00000261584:E384K	ENSP00000261584:E384K	E	-	1	0	PALB2	23554218	0.000000	0.05858	0.010000	0.14722	0.518000	0.34316	0.308000	0.19314	1.541000	0.49316	0.655000	0.94253	GAA		0.413	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		16	112	0	0	0	1	0	16	112				
BCAR1	9564	broad.mit.edu	37	16	75263550	75263550	+	Silent	SNP	G	G	T	rs374251479		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr16:75263550G>T	ENST00000162330.5	-	7	2598	c.2472C>A	c.(2470-2472)cgC>cgA	p.R824R	BCAR1_ENST00000535626.2_Silent_p.R676R|BCAR1_ENST00000542031.2_Silent_p.R822R|BCAR1_ENST00000393420.6_Silent_p.R842R|BCAR1_ENST00000393422.2_Silent_p.R842R|BCAR1_ENST00000418647.3_Silent_p.R870R|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.R842R|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000538440.2_Silent_p.R824R|BCAR1_ENST00000546196.1_Silent_p.R795R	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	824					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCACGATGCCGCGCAGGAGGT	0.662																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(2383-2385)cgC>cgA		breast cancer anti-estrogen resistance 1							47.0	35.0	39.0					16																	75263550		2198	4299	6497	SO:0001819	synonymous_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263550G>T	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2472C>A	16.37:g.75263550G>T						BCAR1_ENST00000393422.2_Silent_p.R842R|BCAR1_ENST00000542031.2_Silent_p.R822R|BCAR1_ENST00000162330.5_Silent_p.R824R|BCAR1_ENST00000538440.2_Silent_p.R824R|BCAR1_ENST00000535626.2_Silent_p.R676R|BCAR1_ENST00000418647.3_Silent_p.R870R|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393420.6_Silent_p.R842R|BCAR1_ENST00000420641.3_Silent_p.R842R	p.R795R			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	4037	-			824			Divergent helix-loop-helix motif.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	c.2385C>A	CCDS10915.1																																																																																				0.662	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		11	29	1	0	6.40141e-05	1	6.77796e-05	11	29				
SP6	80320	broad.mit.edu	37	17	45924952	45924952	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr17:45924952G>C	ENST00000536300.1	-	2	1175	c.844C>G	c.(844-846)Cgt>Ggt	p.R282G	SP6_ENST00000342234.2_Missense_Mutation_p.R282G	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	282					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						ACGAAGGGACGGTCGCCGCTG	0.642																																						ENST00000536300.1																			0				large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						c.(844-846)Cgt>Ggt		Sp6 transcription factor							40.0	37.0	38.0					17																	45924952		2203	4300	6503	SO:0001583	missense	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45924952G>C		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.844C>G	17.37:g.45924952G>C	ENSP00000438209:p.Arg282Gly					SP6_ENST00000342234.2_Missense_Mutation_p.R282G	p.R282G	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN			2	1175	-			282					B3KXS4	Missense_Mutation	SNP	ENST00000536300.1	37	c.844C>G	CCDS11520.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545429	0.65198	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.19938	2.11;2.11	4.5	3.52	0.40303	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000585	T	0.35799	0.0944	L	0.42686	1.345	0.48452	D	0.999656	D	0.89917	1.0	D	0.87578	0.998	T	0.09314	-1.0680	10	0.87932	D	0	.	10.9719	0.47444	0.0:0.0:0.6616:0.3384	.	282	Q3SY56	SP6_HUMAN	G	282	ENSP00000340799:R282G;ENSP00000438209:R282G	ENSP00000340799:R282G	R	-	1	0	SP6	43279951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.315000	0.59172	1.088000	0.41272	0.462000	0.41574	CGT		0.642	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262		7	34	0	0	0	1	0	7	34				
PTPN12	5782	broad.mit.edu	37	7	77221564	77221564	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr7:77221564A>C	ENST00000248594.6	+	6	755	c.483A>C	c.(481-483)aaA>aaC	p.K161N	PTPN12_ENST00000415482.2_Missense_Mutation_p.K42N|PTPN12_ENST00000435495.2_Missense_Mutation_p.K31N	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	161	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CACCATTTAAAATTTCTTGTG	0.313																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(481-483)aaA>aaC		protein tyrosine phosphatase, non-receptor type 12							115.0	115.0	115.0					7																	77221564		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77221564A>C		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.483A>C	7.37:g.77221564A>C	ENSP00000248594:p.Lys161Asn					PTPN12_ENST00000435495.2_Missense_Mutation_p.K31N|PTPN12_ENST00000415482.2_Missense_Mutation_p.K42N	p.K161N	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			6	755	+			161			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.483A>C	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.297825	0.40694	.	.	ENSG00000127947	ENST00000248594;ENST00000433369;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000418110	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.58	3.08	0.35506	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.233635	0.44902	D	0.000404	T	0.74913	0.3779	L	0.39326	1.205	0.31758	N	0.63371	P	0.40731	0.728	B	0.40982	0.345	T	0.73139	-0.4077	10	0.36615	T	0.2	.	1.7709	0.03011	0.5213:0.1233:0.0846:0.2708	.	161	Q05209	PTN12_HUMAN	N	161;42;42;42;31;42	ENSP00000248594:K161N;ENSP00000404050:K42N;ENSP00000392429:K42N;ENSP00000397991:K31N;ENSP00000392526:K42N	ENSP00000248594:K161N	K	+	3	2	PTPN12	77059500	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.123000	0.31308	0.942000	0.37525	0.533000	0.62120	AAA		0.313	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			24	55	0	0	0	1	0	24	55				
CCDC42	146849	broad.mit.edu	37	17	8633486	8633486	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr17:8633486C>G	ENST00000293845.3	-	7	1139	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	CCDC42_ENST00000539522.2_Missense_Mutation_p.E231Q	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	305										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTTTTCACCTCTGCCCAGATG	0.532																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(913-915)Gag>Cag		coiled-coil domain containing 42							113.0	95.0	101.0					17																	8633486		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8633486C>G	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.913G>C	17.37:g.8633486C>G	ENSP00000293845:p.Glu305Gln					CCDC42_ENST00000539522.2_Missense_Mutation_p.E231Q	p.E305Q	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			7	1139	-			305					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.913G>C	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757033	0.69648	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.26223	1.84;1.75	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000008	T	0.41604	0.1166	L	0.53249	1.67	0.30336	N	0.786173	D	0.60575	0.988	P	0.60068	0.868	T	0.22661	-1.0210	10	0.28530	T	0.3	-43.8831	15.9609	0.79930	0.0:1.0:0.0:0.0	.	305	Q96M95	CCD42_HUMAN	Q	305;231	ENSP00000293845:E305Q;ENSP00000444359:E231Q	ENSP00000293845:E305Q	E	-	1	0	CCDC42	8574211	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.264000	0.58859	2.761000	0.94854	0.655000	0.94253	GAG		0.532	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		8	24	0	0	0	1	0	8	24				
SRRM2	23524	broad.mit.edu	37	16	2808538	2808538	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr16:2808538G>C	ENST00000301740.8	+	5	1132	c.583G>C	c.(583-585)Gat>Cat	p.D195H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	195	Lys-rich.|Ser-rich.			D -> K (in Ref. 6; AAH07752). {ECO:0000305}.	mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						aaagaagaaAGATAGAGGACG	0.473																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(583-585)Gat>Cat		serine/arginine repetitive matrix 2							114.0	117.0	116.0					16																	2808538		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2808538G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.583G>C	16.37:g.2808538G>C	ENSP00000301740:p.Asp195His						p.D195H	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			5	1132	+			195	D -> K (in Ref. 6; AAH07752).		Lys-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.583G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227633	0.58668	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.25579	1.79	5.15	5.15	0.70609	.	0.000000	0.53938	D	0.000041	T	0.42381	0.1200	L	0.36672	1.1	0.41425	D	0.987822	D	0.89917	1.0	D	0.83275	0.996	T	0.35151	-0.9800	10	0.72032	D	0.01	-5.8814	16.1099	0.81255	0.0:0.0:1.0:0.0	.	195	Q9UQ35	SRRM2_HUMAN	H	195;195;99;160	ENSP00000301740:D195H	ENSP00000301740:D195H	D	+	1	0	SRRM2	2748539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.698000	0.68302	2.382000	0.81193	0.650000	0.86243	GAT		0.473	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			15	161	0	0	0	1	0	15	161				
FYB	2533	broad.mit.edu	37	5	39119657	39119657	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr5:39119657C>A	ENST00000351578.6	-	14	2270	c.2080G>T	c.(2080-2082)Gac>Tac	p.D694Y	FYB_ENST00000515010.1_Missense_Mutation_p.D694Y|FYB_ENST00000512982.1_Missense_Mutation_p.D740Y|FYB_ENST00000505428.1_Missense_Mutation_p.D740Y|FYB_ENST00000540520.1_Missense_Mutation_p.D750Y	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	694					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCCTGAAGTCTTTTTCTTCT	0.294																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(2080-2082)Gac>Tac		FYN binding protein							50.0	36.0	40.0					5																	39119657		1762	4010	5772	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39119657C>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.2080G>T	5.37:g.39119657C>A	ENSP00000316460:p.Asp694Tyr					FYB_ENST00000512982.1_Missense_Mutation_p.D740Y|FYB_ENST00000515010.1_Missense_Mutation_p.D694Y|FYB_ENST00000540520.1_Missense_Mutation_p.D750Y|FYB_ENST00000505428.1_Missense_Mutation_p.D740Y	p.D694Y	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		14	2270	-	all_lung(31;0.000343)		694					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.2080G>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649739	0.67358	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	4.91	4.91	0.64330	Src homology-3 domain (1);	0.270973	0.41823	D	0.000815	T	0.45677	0.1354	M	0.65975	2.015	0.43032	D	0.994602	D;D	0.71674	0.998;0.976	P;P	0.60173	0.87;0.656	T	0.47522	-0.9111	10	0.72032	D	0.01	-7.2655	15.1846	0.72989	0.0:1.0:0.0:0.0	.	750;694	B4DLN2;O15117	.;FYB_HUMAN	Y	694;694;740;740;750;740	ENSP00000316460:D694Y;ENSP00000426346:D694Y;ENSP00000425845:D740Y;ENSP00000427114:D740Y;ENSP00000442840:D750Y	ENSP00000316460:D694Y	D	-	1	0	FYB	39155414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.043000	0.30316	2.442000	0.82660	0.585000	0.79938	GAC		0.294	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		3	4	1	0	0.115264	1	0.117218	3	4				
TRPA1	8989	broad.mit.edu	37	8	72975102	72975102	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr8:72975102C>A	ENST00000262209.4	-	6	946	c.739G>T	c.(739-741)Gtg>Ttg	p.V247L		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	247					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCATTTTGCACAGCCAGGTGG	0.398																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(739-741)Gtg>Ttg		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						131.0	123.0	126.0					8																	72975102		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72975102C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.739G>T	8.37:g.72975102C>A	ENSP00000262209:p.Val247Leu						p.V247L	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		6	946	-			247					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.739G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053481	0.93793	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.64260	-0.09;-0.09	5.62	5.62	0.85841	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81052	-0.1107	10	0.52906	T	0.07	-26.1012	19.6615	0.95875	0.0:1.0:0.0:0.0	.	247	O75762	TRPA1_HUMAN	L	99;247	ENSP00000428151:V99L;ENSP00000262209:V247L	ENSP00000262209:V247L	V	-	1	0	TRPA1	73137656	1.000000	0.71417	0.929000	0.37066	0.720000	0.41350	6.947000	0.75959	2.637000	0.89404	0.650000	0.86243	GTG		0.398	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		7	76	1	0	0.000157383	1	0.000165667	7	76				
PPP4R4	57718	broad.mit.edu	37	14	94708174	94708174	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr14:94708174A>T	ENST00000304338.3	+	10	1180	c.1026A>T	c.(1024-1026)aaA>aaT	p.K342N		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	342					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTTATAAGAAACTTTGTACAT	0.318																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(1024-1026)aaA>aaT		protein phosphatase 4, regulatory subunit 4							57.0	61.0	60.0					14																	94708174		2203	4297	6500	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94708174A>T	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1026A>T	14.37:g.94708174A>T	ENSP00000305924:p.Lys342Asn						p.K342N	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			10	1180	+			342					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.1026A>T	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.526858	0.44969	.	.	ENSG00000119698	ENST00000304338	T	0.33438	1.41	5.25	2.85	0.33270	Armadillo-like helical (1);Armadillo-type fold (1);	0.213787	0.49305	D	0.000151	T	0.22936	0.0554	L	0.38175	1.15	0.80722	D	1	B	0.32350	0.366	B	0.34038	0.174	T	0.04128	-1.0975	10	0.62326	D	0.03	-23.2884	7.275	0.26279	0.6063:0.0:0.3937:0.0	.	342	Q6NUP7	PP4R4_HUMAN	N	342	ENSP00000305924:K342N	ENSP00000305924:K342N	K	+	3	2	PPP4R4	93777927	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.161000	0.31773	0.306000	0.22856	0.482000	0.46254	AAA		0.318	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		24	86	0	0	0	1	0	24	86				
C17orf74	201243	broad.mit.edu	37	17	7330242	7330242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr17:7330242G>A	ENST00000333870.3	+	3	1006	c.932G>A	c.(931-933)tGg>tAg	p.W311*	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	311						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TATGACTCCTGGGATCAGCGG	0.706																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(931-933)tGg>tAg		chromosome 17 open reading frame 74							29.0	31.0	30.0					17																	7330242		2009	4170	6179	SO:0001587	stop_gained	201243					integral to membrane		g.chr17:7330242G>A	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.932G>A	17.37:g.7330242G>A	ENSP00000328061:p.Trp311*					C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	p.W311*	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	1006	+		Prostate(122;0.157)	311						Nonsense_Mutation	SNP	ENST00000333870.3	37	c.932G>A	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716947	0.30413	.	.	ENSG00000184560	ENST00000333870	.	.	.	4.59	2.43	0.29744	.	0.454572	0.16582	N	0.208151	.	.	.	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-7.0929	4.4984	0.11851	0.1139:0.0:0.6635:0.2226	.	.	.	.	X	311	.	ENSP00000328061:W311X	W	+	2	0	C17orf74	7270966	0.715000	0.27946	0.809000	0.32408	0.018000	0.09664	0.712000	0.25779	2.266000	0.75297	0.491000	0.48974	TGG		0.706	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		8	43	0	0	0	1	0	8	43				
RAB19	401409	broad.mit.edu	37	7	140110835	140110835	+	Intron	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr7:140110835G>A	ENST00000356407.3	+	2	269				RAB19_ENST00000275874.5_Missense_Mutation_p.M88I|RAB19_ENST00000537763.1_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CTCAAAAGATGAGCCCCCAAA	0.493																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(262-264)atG>atA		RAB19, member RAS oncogene family							133.0	132.0	132.0					7																	140110835		2203	4300	6503	SO:0001627	intron_variant	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140110835G>A		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.202-839G>A	7.37:g.140110835G>A						RAB19_ENST00000356407.3_Intron|RAB19_ENST00000537763.1_Intron	p.M88I			A4D1S5	RAB19_HUMAN			3	462	+	Melanoma(164;0.0142)		67					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Missense_Mutation	SNP	ENST00000356407.3	37	c.264G>A	CCDS34762.2	.	.	.	.	.	.	.	.	.	.	G	8.568	0.879363	0.17467	.	.	ENSG00000146955	ENST00000275874	T	0.63255	-0.03	2.71	-0.663	0.11410	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.49707	-0.8911	6	0.59425	D	0.04	.	2.0187	0.03504	0.412:0.0:0.3332:0.2548	.	.	.	.	I	88	ENSP00000275874:M88I	ENSP00000275874:M88I	M	+	3	0	RAB19	139757304	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	0.185000	0.16958	-0.145000	0.11294	0.579000	0.79373	ATG		0.493	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			26	117	0	0	0	1	0	26	117				
PPP4R1	9989	broad.mit.edu	37	18	9550380	9550380	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr18:9550380G>C	ENST00000400556.3	-	17	2381	c.2308C>G	c.(2308-2310)Cta>Gta	p.L770V	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L753V	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	770					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TATAACTCTAGAAGTAAAATC	0.333																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(2308-2310)Cta>Gta		protein phosphatase 4, regulatory subunit 1							110.0	105.0	106.0					18																	9550380		1816	4084	5900	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9550380G>C	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2308C>G	18.37:g.9550380G>C	ENSP00000383402:p.Leu770Val					PPP4R1_ENST00000400555.3_Missense_Mutation_p.L753V	p.L770V	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			17	2381	-			770					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.2308C>G	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249566	0.39797	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.32515	1.45;1.45	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000015	T	0.26774	0.0655	L	0.38649	1.16	0.48762	D	0.999708	B;B;B	0.34329	0.449;0.402;0.198	B;B;B	0.35859	0.212;0.109;0.108	T	0.02758	-1.1114	9	.	.	.	-13.7735	14.2868	0.66251	0.0705:0.0:0.9295:0.0	.	753;770;753	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	V	770;753	ENSP00000383402:L770V;ENSP00000383401:L753V	.	L	-	1	2	PPP4R1	9540380	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	3.989000	0.56958	2.769000	0.95229	0.655000	0.94253	CTA		0.333	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		14	150	0	0	0	1	0	14	150				
SLC4A5	57835	broad.mit.edu	37	2	74454961	74454961	+	Missense_Mutation	SNP	G	G	A	rs180817000	byFrequency	TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:74454961G>A	ENST00000423644.1	-	25	3110	c.2713C>T	c.(2713-2715)Cgt>Tgt	p.R905C	SLC4A5_ENST00000346834.4_Intron|SLC4A5_ENST00000357822.5_Silent_p.G964G|SLC4A5_ENST00000359484.4_Silent_p.G862G|SLC4A5_ENST00000377632.1_Intron|SLC4A5_ENST00000358683.4_Silent_p.G862G|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377634.4_Silent_p.G964G|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000394019.2_Silent_p.G964G					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.G964G(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGAGGCCACGCCCATGTAGA	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		19460	0.001		0.0	False		,,,				2504	0.001					ENST00000423644.1																			1	Substitution - coding silent(1)	p.G964G(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2713-2715)Cgt>Tgt		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							38.0	35.0	36.0					2																	74454961		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74454961G>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000423644.1:c.2713C>T	2.37:g.74454961G>A	ENSP00000395804:p.Arg905Cys					SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Silent_p.G862G|SLC4A5_ENST00000394019.2_Silent_p.G964G|SLC4A5_ENST00000377632.1_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.G964G|SLC4A5_ENST00000358683.4_Silent_p.G862G|SLC4A5_ENST00000357822.5_Silent_p.G964G|SLC4A5_ENST00000346834.4_Intron	p.R905C			Q9BY07	S4A5_HUMAN			25	3110	-			0						Missense_Mutation	SNP	ENST00000423644.1	37	c.2713C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.39	1.338186	0.24253	.	.	ENSG00000188687	ENST00000423644;ENST00000425249	T;T	0.71222	-0.55;-0.27	5.53	-3.72	0.04411	.	.	.	.	.	T	0.52419	0.1733	.	.	.	0.26721	N	0.970775	B	0.06786	0.001	B	0.04013	0.001	T	0.47420	-0.9119	8	0.87932	D	0	.	4.2206	0.10556	0.5976:0.115:0.1708:0.1165	.	867	E7EQT3	.	C	905;867	ENSP00000395804:R905C;ENSP00000405678:R867C	ENSP00000395804:R905C	R	-	1	0	SLC4A5	74308469	0.000000	0.05858	0.993000	0.49108	0.972000	0.66771	-3.389000	0.00488	-0.265000	0.09352	-0.768000	0.03414	CGT		0.577	SLC4A5-204	KNOWN	basic	protein_coding	protein_coding				3	14	0	0	0	1	0	3	14				
ANO3	63982	broad.mit.edu	37	11	26681950	26681950	+	Missense_Mutation	SNP	C	C	T	rs373975805		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr11:26681950C>T	ENST00000256737.3	+	27	3757	c.2905C>T	c.(2905-2907)Cgg>Tgg	p.R969W	ANO3_ENST00000525139.1_Missense_Mutation_p.R953W|ANO3_ENST00000537978.1_Missense_Mutation_p.R953W|ANO3_ENST00000531568.1_Missense_Mutation_p.R823W	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	969					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCAACAACAACGGAGAAAAAG	0.428																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(2905-2907)Cgg>Tgg		anoctamin 3		C	TRP/ARG	0,4406		0,0,2203	135.0	129.0	131.0		2905	3.7	0.9	11		131	1,8597	1.2+/-3.3	0,1,4298	no	missense	ANO3	NM_031418.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	969/982	26681950	1,13003	2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26681950C>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2905C>T	11.37:g.26681950C>T	ENSP00000256737:p.Arg969Trp					ANO3_ENST00000531568.1_Missense_Mutation_p.R823W|ANO3_ENST00000537978.1_Missense_Mutation_p.R953W|ANO3_ENST00000525139.1_Missense_Mutation_p.R953W	p.R969W	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			27	3757	+			969					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2905C>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721890	0.68959	0.0	1.16E-4	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.58	5.66	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.74650	0.3744	L	0.27053	0.805	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.78277	-0.2266	10	0.72032	D	0.01	.	14.4101	0.67109	0.4904:0.5096:0.0:0.0	.	871;969	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	W	953;953;969;871;823	ENSP00000440737:R953W;ENSP00000432576:R953W;ENSP00000256737:R969W;ENSP00000432394:R823W	ENSP00000256737:R969W	R	+	1	2	ANO3	26638526	0.706000	0.27856	0.945000	0.38365	0.960000	0.62799	0.986000	0.29590	1.333000	0.45449	0.655000	0.94253	CGG		0.428	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		19	61	0	0	0	1	0	19	61				
TICAM1	148022	broad.mit.edu	37	19	4817854	4817854	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:4817854G>C	ENST00000248244.5	-	2	765	c.536C>G	c.(535-537)cCa>cGa	p.P179R		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	179					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AATGGGGCGTGGGAGGCTCCT	0.642																																						ENST00000248244.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(535-537)cCa>cGa		toll-like receptor adaptor molecule 1							77.0	77.0	77.0					19																	4817854		2203	4300	6503	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817854G>C	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.536C>G	19.37:g.4817854G>C	ENSP00000248244:p.Pro179Arg						p.P179R	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	765	-			179					B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.536C>G	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064780	0.76187	.	.	ENSG00000127666	ENST00000248244	T	0.57907	0.37	4.66	4.66	0.58398	.	0.000000	0.37669	N	0.001982	T	0.70544	0.3236	M	0.68952	2.095	0.42160	D	0.991595	D	0.89917	1.0	D	0.85130	0.997	T	0.75065	-0.3449	10	0.87932	D	0	-26.2417	15.6652	0.77225	0.0:0.0:1.0:0.0	.	179	Q8IUC6	TCAM1_HUMAN	R	179	ENSP00000248244:P179R	ENSP00000248244:P179R	P	-	2	0	TICAM1	4768854	0.976000	0.34144	0.479000	0.27329	0.019000	0.09904	4.683000	0.61679	2.283000	0.76528	0.305000	0.20034	CCA		0.642	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		19	131	0	0	0	1	0	19	131				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				6	14	0	0	0	1	0	6	14				
CYP4F8	11283	broad.mit.edu	37	19	15728889	15728889	+	RNA	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:15728889G>A	ENST00000441682.2	+	0	341							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GAGGTGGTTGGGCCCCATCAC	0.597																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							126.0	135.0	132.0					19																	15728889		2194	4300	6494			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15728889G>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15728889G>A										P98187	CP4F8_HUMAN			0	341	+									RNA	SNP	ENST00000441682.2	37			.	.	.	.	.	.	.	.	.	.	.	17.47	3.397047	0.62177	.	.	ENSG00000186526	ENST00000441682	.	.	.	3.46	3.46	0.39613	.	0.000000	0.85682	U	0.000000	T	0.74268	0.3694	.	.	.	.	.	.	D;D	0.89917	1.0;0.965	D;P	0.91635	0.999;0.887	T	0.82627	-0.0364	7	0.72032	D	0.01	.	12.7921	0.57539	0.0:0.0:1.0:0.0	.	93;93	B4DU32;P98187	.;CP4F8_HUMAN	S	93	.	ENSP00000409702:G93S	G	+	1	0	CYP4F8	15589889	0.986000	0.35501	0.041000	0.18516	0.012000	0.07955	3.369000	0.52365	1.936000	0.56123	0.591000	0.81541	GGC		0.597	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		25	64	0	0	0	1	0	25	64				
ZNF233	353355	broad.mit.edu	37	19	44778518	44778518	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:44778518T>C	ENST00000391958.2	+	5	1832	c.1705T>C	c.(1705-1707)Tgt>Cgt	p.C569R	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.C551R|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ATGTGATGTGTGTGGGAAAGG	0.448																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1705-1707)Tgt>Cgt		zinc finger protein 233							95.0	90.0	91.0					19																	44778518		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778518T>C	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1705T>C	19.37:g.44778518T>C	ENSP00000375820:p.Cys569Arg					ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.C551R|ZNF235_ENST00000589799.1_Intron	p.C569R	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1832	+		Prostate(69;0.0435)|all_neural(266;0.226)	569					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1705T>C	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.465647	0.63513	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	D;D	0.85955	-2.05;-2.05	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94042	0.8091	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95106	0.8234	9	0.87932	D	0	-12.6485	12.1521	0.54055	0.0:0.0:0.0:1.0	.	569	A6NK53	ZN233_HUMAN	R	551;569;464	ENSP00000334957:C551R;ENSP00000375820:C569R	ENSP00000280305:C464R	C	+	1	0	ZNF233	49470358	1.000000	0.71417	0.070000	0.20053	0.887000	0.51463	7.649000	0.83500	1.573000	0.49748	0.496000	0.49642	TGT		0.448	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		6	100	0	0	0	1	0	6	100				
NFATC3	4775	broad.mit.edu	37	16	68156551	68156551	+	Silent	SNP	G	G	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr16:68156551G>T	ENST00000346183.3	+	2	789	c.765G>T	c.(763-765)ctG>ctT	p.L255L	NFATC3_ENST00000349223.5_Silent_p.L255L|NFATC3_ENST00000575270.1_Silent_p.L255L|NFATC3_ENST00000329524.4_Silent_p.L255L|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	255	3 X SP repeats.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGAATTGGCTGAGCCCCAGGC	0.532																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(763-765)ctG>ctT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							81.0	82.0	82.0					16																	68156551		2198	4300	6498	SO:0001819	synonymous_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156551G>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.765G>T	16.37:g.68156551G>T						NFATC3_ENST00000575270.1_Silent_p.L255L|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.L255L|NFATC3_ENST00000329524.4_Silent_p.L255L	p.L255L	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	989	+		Ovarian(137;0.0563)	255			3 X SP repeats.		O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	c.765G>T	CCDS10860.1																																																																																				0.532	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		8	111	1	0	5.4927e-09	1	6.14091e-09	8	111				
MYH10	4628	broad.mit.edu	37	17	8383508	8383508	+	Silent	SNP	G	G	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr17:8383508G>T	ENST00000269243.4	-	38	5562	c.5424C>A	c.(5422-5424)gtC>gtA	p.V1808V	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000396239.1_Silent_p.V1829V|MYH10_ENST00000360416.3_Silent_p.V1839V|MYH10_ENST00000379980.4_Silent_p.V1824V	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1808					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ACTTAGACTTGACAGCACCCT	0.587																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5515-5517)gtC>gtA		myosin, heavy chain 10, non-muscle							126.0	101.0	110.0					17																	8383508		2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8383508G>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5424C>A	17.37:g.8383508G>T						MYH10_ENST00000396239.1_Silent_p.V1829V|MYH10_ENST00000379980.4_Silent_p.V1824V|MYH10_ENST00000269243.4_Silent_p.V1808V|NDEL1_ENST00000299734.7_Intron	p.V1839V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			40	5655	-			1808					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.5517C>A	CCDS11144.1																																																																																				0.587	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			12	63	1	0	1.61879e-10	1	1.82114e-10	12	63				
TXLNGY	246126	broad.mit.edu	37	Y	21761644	21761644	+	RNA	SNP	A	A	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chrY:21761644A>T	ENST00000253320.4	+	0	4652																				haematopoietic_and_lymphoid_tissue(1)	1						TATATGGATAAGTTTGAAGAA	0.274																																						ENST00000253320.4																			0				haematopoietic_and_lymphoid_tissue(1)	1															17.0	17.0	17.0					Y																	21761644		577	1881	2458			246126							g.chrY:21761644A>T																													Y.37:g.21761644A>T										Q9BZA5	CY15A_HUMAN			0	4652	+									RNA	SNP	ENST00000253320.4	37																																																																																						0.274	TXLNG2P-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000088781.1			6	5	0	0	0	1	0	6	5				
RHOBTB2	23221	broad.mit.edu	37	8	22863632	22863632	+	Silent	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr8:22863632C>T	ENST00000251822.6	+	4	993	c.456C>T	c.(454-456)gtC>gtT	p.V152V	RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Silent_p.V174V|RHOBTB2_ENST00000522948.1_Silent_p.V159V|RHOBTB2_ENST00000523918.1_3'UTR	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	152	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGAGGCTGTCAACAGGGCTA	0.607																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(454-456)gtC>gtT		Rho-related BTB domain containing 2							154.0	147.0	150.0					8																	22863632		2203	4300	6503	SO:0001819	synonymous_variant	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22863632C>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.456C>T	8.37:g.22863632C>T						RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.V174V|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000522948.1_Silent_p.V159V	p.V152V	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	4	993	+		Prostate(55;0.0513)|Breast(100;0.214)	152			Rho-like.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	c.456C>T	CCDS6034.1																																																																																				0.607	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			21	222	0	0	0	1	0	21	222				
TTN	7273	broad.mit.edu	37	2	179413855	179413855	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:179413855G>A	ENST00000591111.1	-	289	87799	c.87575C>T	c.(87574-87576)aCa>aTa	p.T29192I	TTN_ENST00000359218.5_Missense_Mutation_p.T21893I|TTN_ENST00000460472.2_Missense_Mutation_p.T21768I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T28265I|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T30833I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T21960I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29192	Fibronectin type-III 113. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TGTCTTTGATGTGTCTGTTAC	0.458																																						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.(92497-92499)aCa>aTa		titin							77.0	76.0	76.0					2																	179413855		1939	4153	6092	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413855G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87575C>T	2.37:g.179413855G>A	ENSP00000465570:p.Thr29192Ile					TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T21768I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T21893I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T28265I|TTN_ENST00000591111.1_Missense_Mutation_p.T29192I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T21960I|TTN-AS1_ENST00000586831.1_RNA	p.T30833I	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)		339	92722	-			29192			Fibronectin type-III 124.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.92498C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.086820	0.76642	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.3	5.3	0.74995	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56093	0.1962	N	0.11845	0.185	0.58432	D	0.999999	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.63192	0.912;0.912;0.912;0.912	T	0.64846	-0.6311	9	0.87932	D	0	.	19.3251	0.94258	0.0:0.0:1.0:0.0	.	21768;21893;21960;29192	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	28265;21768;21960;21893;21765	ENSP00000343764:T28265I;ENSP00000434586:T21768I;ENSP00000340554:T21960I;ENSP00000352154:T21893I	ENSP00000340554:T21960I	T	-	2	0	TTN	179122101	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.517000	0.81783	2.625000	0.88918	0.563000	0.77884	ACA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	93	0	0	0	1	0	33	93				
HIRA	7290	broad.mit.edu	37	22	19363199	19363199	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr22:19363199G>A	ENST00000263208.5	-	15	1986	c.1730C>T	c.(1729-1731)cCa>cTa	p.P577L	HIRA_ENST00000541063.1_Missense_Mutation_p.P533L|HIRA_ENST00000546308.1_Missense_Mutation_p.P533L|HIRA_ENST00000340170.4_Missense_Mutation_p.P577L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	577	Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGGAGCACCTGGTGTGGCTTT	0.577																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1729-1731)cCa>cTa		histone cell cycle regulator							174.0	139.0	151.0					22																	19363199		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19363199G>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1730C>T	22.37:g.19363199G>A	ENSP00000263208:p.Pro577Leu					HIRA_ENST00000546308.1_Missense_Mutation_p.P533L|HIRA_ENST00000340170.4_Missense_Mutation_p.P577L|HIRA_ENST00000541063.1_Missense_Mutation_p.P533L	p.P577L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			15	1986	-	Colorectal(54;0.0993)		577			Interaction with CCNA1.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.1730C>T	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944712	0.73672	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	T;T;T;T	0.71461	-0.47;-0.57;-0.42;-0.4	5.02	5.02	0.67125	.	0.187057	0.48286	D	0.000182	T	0.57902	0.2085	N	0.19112	0.55	0.80722	D	1	P;B;P	0.46706	0.836;0.241;0.883	B;B;B	0.44085	0.44;0.068;0.327	T	0.56823	-0.7915	10	0.06494	T	0.89	-7.0818	18.5366	0.91013	0.0:0.0:1.0:0.0	.	533;577;577	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	L	577;577;533;86;533	ENSP00000345350:P577L;ENSP00000263208:P577L;ENSP00000446073:P533L;ENSP00000441870:P533L	ENSP00000263208:P577L	P	-	2	0	HIRA	17743199	1.000000	0.71417	0.160000	0.22671	0.869000	0.49853	9.257000	0.95545	2.616000	0.88540	0.655000	0.94253	CCA		0.577	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		9	69	0	0	0	1	0	9	69				
TMPRSS11B	132724	broad.mit.edu	37	4	69096989	69096989	+	Silent	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr4:69096989G>A	ENST00000332644.5	-	7	779	c.618C>T	c.(616-618)ggC>ggT	p.G206G		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	206	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AGTAGTGACGGCCTTTCCATT	0.473																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(616-618)ggC>ggT		transmembrane protease, serine 11B							75.0	75.0	75.0					4																	69096989		2203	4300	6503	SO:0001819	synonymous_variant	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69096989G>A	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.618C>T	4.37:g.69096989G>A							p.G206G	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			7	779	-			206			Peptidase S1.		A8K4D9	Silent	SNP	ENST00000332644.5	37	c.618C>T	CCDS3521.1																																																																																				0.473	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		9	53	0	0	0	1	0	9	53				
TP63	8626	broad.mit.edu	37	3	189611999	189611999	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:189611999T>G	ENST00000264731.3	+	14	1840	c.1751T>G	c.(1750-1752)cTg>cGg	p.L584R	TP63_ENST00000449992.1_Missense_Mutation_p.L405R|TP63_ENST00000392463.2_Missense_Mutation_p.W459G|TP63_ENST00000382063.4_Missense_Mutation_p.L499R|TP63_ENST00000456148.1_Missense_Mutation_p.L486R|TP63_ENST00000392460.3_Missense_Mutation_p.W553G|TP63_ENST00000392461.3_Silent_p.S410S|TP63_ENST00000320472.5_Silent_p.S504S|TP63_ENST00000354600.5_Missense_Mutation_p.L490R|TP63_ENST00000440651.2_Missense_Mutation_p.L580R	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	584	SAM.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCACAGGATCTGGCAAGTCTG	0.502										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	GRCh37	CM061225	TP63	M		c.(1750-1752)cTg>cGg		tumor protein p63							58.0	57.0	58.0					3																	189611999		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189611999T>G	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1751T>G	3.37:g.189611999T>G	ENSP00000264731:p.Leu584Arg	HNSCC(45;0.13)				TP63_ENST00000392461.3_Silent_p.S410S|TP63_ENST00000320472.5_Silent_p.S504S|TP63_ENST00000392460.3_Missense_Mutation_p.W553G|TP63_ENST00000440651.2_Missense_Mutation_p.L580R|TP63_ENST00000354600.5_Missense_Mutation_p.L490R|TP63_ENST00000449992.1_Missense_Mutation_p.L405R|TP63_ENST00000382063.4_Missense_Mutation_p.L499R|TP63_ENST00000392463.2_Missense_Mutation_p.W459G|TP63_ENST00000456148.1_Missense_Mutation_p.L486R	p.L584R	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	14	1840	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		584			SAM.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1751T>G	CCDS3293.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.200831|4.200831	0.79015|0.79015	.|.	.|.	ENSG00000073282|ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148|ENST00000392460;ENST00000392463	D;D;D;D;D;D|D;D	0.96041|0.99552	-3.89;-3.89;-3.89;-3.89;-3.89;-3.89|-6.15;-6.14	6.16|6.16	6.16|6.16	0.99307|0.99307	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.98216|0.98216	0.9410|0.9410	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|B;P	0.76494|0.36874	0.998;0.998;0.999|0.318;0.572	D;D;D|B;B	0.83275|0.29716	0.988;0.988;0.996|0.047;0.106	D|D	0.99940|0.99940	1.1400|1.1400	8|7	.|.	.|.	.|.	-10.8997|-10.8997	15.9872|15.9872	0.80168|0.80168	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	405;490;584|459;553	Q9H3D4-10;Q9H3D4-2;Q9H3D4|Q9H3D4-4;Q9H3D4-3	.;.;P63_HUMAN|.;.	R|G	584;580;499;490;405;486|553;459	ENSP00000264731:L584R;ENSP00000394337:L580R;ENSP00000371495:L499R;ENSP00000346614:L490R;ENSP00000387839:L405R;ENSP00000389485:L486R|ENSP00000376253:W553G;ENSP00000376256:W459G	.|.	L|W	+|+	2|1	0|0	TP63|TP63	191094693|191094693	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.636000|0.636000	0.38137|0.38137	7.495000|7.495000	0.81514|0.81514	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	CTG|TGG		0.502	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		10	81	0	0	0	1	0	10	81				
ZNF558	148156	broad.mit.edu	37	19	8922717	8922717	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:8922717T>A	ENST00000601372.1	-	10	1160	c.449A>T	c.(448-450)aAa>aTa	p.K150I	ZNF558_ENST00000301475.1_Missense_Mutation_p.K150I|ZNF558_ENST00000444186.2_Missense_Mutation_p.K79I			Q96NG5	ZN558_HUMAN	zinc finger protein 558	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTCATTGAGTTTCACTCCACG	0.338																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(448-450)aAa>aTa		zinc finger protein 558							36.0	33.0	34.0					19																	8922717		2203	4298	6501	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8922717T>A	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.449A>T	19.37:g.8922717T>A	ENSP00000471277:p.Lys150Ile					ZNF558_ENST00000301475.1_Missense_Mutation_p.K150I|ZNF558_ENST00000444186.2_Missense_Mutation_p.K79I	p.K150I			Q96NG5	ZN558_HUMAN			10	1160	-			150					A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.449A>T	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523374	0.64747	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.07688	3.17;3.17	5.07	5.07	0.68467	.	0.633629	0.14052	N	0.344633	T	0.25158	0.0611	M	0.90814	3.15	0.35297	D	0.782653	P	0.42941	0.794	P	0.47075	0.536	T	0.40997	-0.9533	10	0.72032	D	0.01	-9.57	12.8095	0.57631	0.0:0.0:0.0:1.0	.	150	Q96NG5	ZN558_HUMAN	I	150;79	ENSP00000301475:K150I;ENSP00000410703:K79I	ENSP00000301475:K150I	K	-	2	0	ZNF558	8783717	0.938000	0.31826	0.517000	0.27799	0.971000	0.66376	0.237000	0.17985	2.128000	0.65567	0.482000	0.46254	AAA		0.338	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		17	39	0	0	0	1	0	17	39				
ERGIC2	51290	broad.mit.edu	37	12	29514592	29514592	+	Silent	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr12:29514592C>T	ENST00000360150.4	-	6	435	c.360G>A	c.(358-360)caG>caA	p.Q120Q		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	120					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					GCCACTCTTTCTGCTGTGGTG	0.289																																						ENST00000360150.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(358-360)caG>caA		ERGIC and golgi 2	Arsenic trioxide(DB01169)						143.0	143.0	143.0					12																	29514592		1829	4085	5914	SO:0001819	synonymous_variant	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29514592C>T	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.360G>A	12.37:g.29514592C>T							p.Q120Q	NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN			6	435	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		120					A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Silent	SNP	ENST00000360150.4	37	c.360G>A	CCDS41765.1																																																																																				0.289	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		30	87	0	0	0	1	0	30	87				
HS6ST1	9394	broad.mit.edu	37	2	129026418	129026418	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:129026418C>T	ENST00000259241.6	-	2	567	c.554G>A	c.(553-555)cGa>cAa	p.R185Q		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding. {ECO:0000255}.				angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CACGGGGTCTCGTAGCAGGGT	0.627																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(553-555)cGa>cAa		heparan sulfate 6-O-sulfotransferase 1							27.0	29.0	29.0					2																	129026418		2025	4088	6113	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026418C>T	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.554G>A	2.37:g.129026418C>T	ENSP00000259241:p.Arg185Gln						p.R185Q	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	567	-	Colorectal(110;0.1)		185			3'-phosphate binding (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.554G>A	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	C	36	5.633616	0.96682	.	.	ENSG00000136720	ENST00000259241	D	0.91180	-2.8	4.85	4.85	0.62838	.	0.051973	0.85682	D	0.000000	D	0.95592	0.8567	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	P	0.62089	0.898	D	0.96215	0.9156	9	.	.	.	.	17.9666	0.89101	0.0:1.0:0.0:0.0	.	185	O60243	H6ST1_HUMAN	Q	185	ENSP00000259241:R185Q	.	R	-	2	0	HS6ST1	128742888	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	7.487000	0.81328	2.235000	0.73313	0.462000	0.41574	CGA		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		10	38	0	0	0	1	0	10	38				
TMCO3	55002	broad.mit.edu	37	13	114150217	114150217	+	Silent	SNP	A	A	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr13:114150217A>G	ENST00000434316.2	+	2	680	c.321A>G	c.(319-321)gaA>gaG	p.E107E	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.E107E	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	107						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			ATGAAAGTGAAAATTCCGTTT	0.502																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(319-321)gaA>gaG		transmembrane and coiled-coil domains 3							49.0	51.0	50.0					13																	114150217		2203	4300	6503	SO:0001819	synonymous_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114150217A>G	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.321A>G	13.37:g.114150217A>G						TMCO3_ENST00000375391.1_Silent_p.E107E|TMCO3_ENST00000474393.1_3'UTR	p.E107E	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		2	680	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	107					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	c.321A>G	CCDS9537.1																																																																																				0.502	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		17	20	0	0	0	1	0	17	20				
TGS1	96764	broad.mit.edu	37	8	56708566	56708566	+	Missense_Mutation	SNP	G	G	C	rs570318131		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr8:56708566G>C	ENST00000260129.5	+	7	1874	c.1397G>C	c.(1396-1398)cGg>cCg	p.R466P		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	466					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TTCAGTCATCGGCAGGTCAGG	0.343																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1396-1398)cGg>cCg		trimethylguanosine synthase 1							52.0	50.0	51.0					8																	56708566		2203	4299	6502	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56708566G>C	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1397G>C	8.37:g.56708566G>C	ENSP00000260129:p.Arg466Pro						p.R466P	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		7	1874	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	466					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.1397G>C	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800231	0.70567	.	.	ENSG00000137574	ENST00000260129	T	0.69175	-0.38	6.03	5.16	0.70880	.	0.232813	0.37012	N	0.002283	T	0.80314	0.4600	M	0.76574	2.34	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.965	T	0.74153	-0.3757	10	0.72032	D	0.01	-17.1583	13.5473	0.61711	0.0716:0.0:0.9284:0.0	.	466;466	B2RBJ7;Q96RS0	.;TGS1_HUMAN	P	466	ENSP00000260129:R466P	ENSP00000260129:R466P	R	+	2	0	TGS1	56871120	0.985000	0.35326	0.857000	0.33713	0.995000	0.86356	6.301000	0.72782	1.546000	0.49388	0.655000	0.94253	CGG		0.343	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		21	67	0	0	0	1	0	21	67				
OTUD6B	51633	broad.mit.edu	37	8	92083370	92083370	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr8:92083370A>T	ENST00000285420.4	+	2	276	c.177A>T	c.(175-177)aaA>aaT	p.K59N	GS1-251I9.4_ENST00000524003.1_RNA|GS1-251I9.4_ENST00000522817.1_RNA|OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	29							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TTTCAGCCAAAATTCAGGGCA	0.438																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(175-177)aaA>aaT		OTU domain containing 6B							70.0	70.0	70.0					8																	92083370		2203	4300	6503	SO:0001583	missense	51633							g.chr8:92083370A>T		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.177A>T	8.37:g.92083370A>T	ENSP00000285420:p.Lys59Asn					OTUD6B_ENST00000404789.3_5'UTR	p.K59N	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		2	276	+			29					A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	c.177A>T	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377996	0.61735	.	.	ENSG00000155100	ENST00000285420	D	0.95690	-3.78	5.73	5.73	0.89815	.	0.256057	0.45361	N	0.000370	D	0.96175	0.8753	M	0.90870	3.155	0.80722	D	1	B	0.33345	0.409	B	0.33295	0.161	D	0.95982	0.8978	10	0.66056	D	0.02	-15.0866	16.0215	0.80499	1.0:0.0:0.0:0.0	.	29	Q8N6M0	OTU6B_HUMAN	N	59	ENSP00000285420:K59N	ENSP00000285420:K59N	K	+	3	2	OTUD6B	92152546	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	2.436000	0.44819	2.188000	0.69820	0.459000	0.35465	AAA		0.438	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		17	82	0	0	0	1	0	17	82				
RASIP1	54922	broad.mit.edu	37	19	49225236	49225236	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:49225236G>A	ENST00000222145.4	-	11	2771	c.2567C>T	c.(2566-2568)aCc>aTc	p.T856I	MAMSTR_ENST00000318083.6_5'Flank|MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000377367.3_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	856	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGGGTGGTCGGTTCTTAGGCT	0.622																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(2566-2568)aCc>aTc		Ras interacting protein 1							56.0	57.0	57.0					19																	49225236		2203	4300	6503	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49225236G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2567C>T	19.37:g.49225236G>A	ENSP00000222145:p.Thr856Ile						p.T856I	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	11	2771	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	856			Dilute.		Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.2567C>T	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243006	0.22796	.	.	ENSG00000105538	ENST00000222145	T	0.23147	1.92	4.51	3.46	0.39613	Dilute (1);Dil domain (1);	0.328457	0.28140	N	0.016456	T	0.14917	0.0360	N	0.14661	0.345	0.09310	N	0.999999	B	0.19935	0.04	B	0.22601	0.04	T	0.18903	-1.0322	10	0.56958	D	0.05	0.2443	8.4602	0.32923	0.0886:0.0:0.7595:0.1519	.	856	Q5U651	RAIN_HUMAN	I	856	ENSP00000222145:T856I	ENSP00000222145:T856I	T	-	2	0	RASIP1	53917048	0.197000	0.23362	0.879000	0.34478	0.042000	0.13812	0.952000	0.29149	0.651000	0.30788	-1.626000	0.00786	ACC		0.622	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		19	48	0	0	0	1	0	19	48				
LPHN2	23266	broad.mit.edu	37	1	82433849	82433849	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:82433849A>C	ENST00000370728.1	+	16	3122	c.2477A>C	c.(2476-2478)aAt>aCt	p.N826T	LPHN2_ENST00000394879.1_Missense_Mutation_p.N813T|LPHN2_ENST00000319517.6_Missense_Mutation_p.N813T|LPHN2_ENST00000370723.1_Missense_Mutation_p.N813T|LPHN2_ENST00000370715.1_Missense_Mutation_p.N813T|LPHN2_ENST00000370717.2_Missense_Mutation_p.N826T|LPHN2_ENST00000271029.4_Missense_Mutation_p.N826T|LPHN2_ENST00000370721.1_Missense_Mutation_p.N751T|LPHN2_ENST00000335786.5_Missense_Mutation_p.N826T|LPHN2_ENST00000370730.1_Missense_Mutation_p.N826T|LPHN2_ENST00000370713.1_Missense_Mutation_p.N813T|LPHN2_ENST00000359929.3_Missense_Mutation_p.N813T|LPHN2_ENST00000370727.1_Missense_Mutation_p.N826T|LPHN2_ENST00000370725.1_Missense_Mutation_p.N826T|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	826	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.N813S(1)|p.N826S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CACCTAACCAATTTTGCAATT	0.413																																						ENST00000370728.1																			2	Substitution - Missense(2)	p.N813S(1)|p.N826S(1)	large_intestine(2)	NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2476-2478)aAt>aCt		latrophilin 2							108.0	107.0	107.0					1																	82433849		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82433849A>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2477A>C	1.37:g.82433849A>C	ENSP00000359763:p.Asn826Thr					LPHN2_ENST00000319517.6_Missense_Mutation_p.N813T|LPHN2_ENST00000335786.5_Missense_Mutation_p.N826T|LPHN2_ENST00000370727.1_Missense_Mutation_p.N826T|LPHN2_ENST00000271029.4_Missense_Mutation_p.N826T|LPHN2_ENST00000370721.1_Missense_Mutation_p.N751T|LPHN2_ENST00000370713.1_Missense_Mutation_p.N813T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.N813T|LPHN2_ENST00000370715.1_Missense_Mutation_p.N813T|LPHN2_ENST00000370725.1_Missense_Mutation_p.N826T|LPHN2_ENST00000370717.2_Missense_Mutation_p.N826T|LPHN2_ENST00000359929.3_Missense_Mutation_p.N813T|LPHN2_ENST00000394879.1_Missense_Mutation_p.N813T|LPHN2_ENST00000370730.1_Missense_Mutation_p.N826T	p.N826T			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	16	3122	+			826			GPS.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2477A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.4|22.4	4.285055|4.285055	0.80803|0.80803	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.69040	.|-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73845|0.73845	0.3639|0.3639	M|M	0.62209|0.62209	1.925|1.925	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.97;0.969;0.997	.|P;P;D	.|0.66602	.|0.878;0.671;0.945	T|T	0.78157|0.78157	-0.2313|-0.2313	5|10	.|0.87932	.|D	.|0	.|.	15.6195|15.6195	0.76796|0.76796	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|813;813;813	.|O95490-3;O95490-4;O95490-2	.|.;.;.	L|T	694|751;826;826;826;826;813;813;813;813;813;826;813;826;826	.|ENSP00000359756:N751T;ENSP00000359763:N826T;ENSP00000359765:N826T;ENSP00000359762:N826T;ENSP00000359760:N826T;ENSP00000359758:N813T;ENSP00000353006:N813T;ENSP00000359750:N813T;ENSP00000359748:N813T;ENSP00000322270:N813T;ENSP00000359752:N826T;ENSP00000378344:N813T;ENSP00000271029:N826T;ENSP00000337306:N826T	.|ENSP00000271029:N826T	I|N	+|+	1|2	0|0	LPHN2|LPHN2	82206437|82206437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.339000|9.339000	0.96797|0.96797	2.090000|2.090000	0.63153|0.63153	0.477000|0.477000	0.44152|0.44152	ATT|AAT		0.413	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		37	70	0	0	0	1	0	37	70				
ZNF600	162966	broad.mit.edu	37	19	53270816	53270816	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:53270816T>A	ENST00000338230.3	-	3	460	c.193A>T	c.(193-195)Aag>Tag	p.K65*		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	65					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CCAGTCAACTTTTTTATTTTT	0.378																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(193-195)Aag>Tag		zinc finger protein 600							148.0	149.0	149.0					19																	53270816		2203	4300	6503	SO:0001587	stop_gained	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270816T>A	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.193A>T	19.37:g.53270816T>A	ENSP00000344791:p.Lys65*						p.K65*	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	460	-			65					Q6MZR0	Nonsense_Mutation	SNP	ENST00000338230.3	37	c.193A>T	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	18.11	3.551666	0.65311	.	.	ENSG00000189190	ENST00000338230	.	.	.	1.57	0.376	0.16193	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	5.496	0.16804	0.0:0.0:0.2872:0.7127	.	.	.	.	X	65	.	ENSP00000344791:K65X	K	-	1	0	ZNF600	57962628	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.974000	0.03794	-0.104000	0.12154	0.248000	0.18094	AAG		0.378	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		106	233	0	0	0	1	0	106	233				
RSRC1	51319	broad.mit.edu	37	3	157841746	157841746	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:157841746G>T	ENST00000295930.3	+	3	448	c.286G>T	c.(286-288)Gtt>Ttt	p.V96F	RSRC1_ENST00000464171.1_Missense_Mutation_p.V96F|RSRC1_ENST00000312179.6_Missense_Mutation_p.V96F|RSRC1_ENST00000480820.1_Missense_Mutation_p.V96F|RSRC1_ENST00000475278.2_Missense_Mutation_p.V96F	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	96	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ATCCTATAGAGTTCAGAGGTC	0.408																																						ENST00000464171.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(286-288)Gtt>Ttt		arginine/serine-rich coiled-coil 1							95.0	95.0	95.0					3																	157841746		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157841746G>T	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.286G>T	3.37:g.157841746G>T	ENSP00000295930:p.Val96Phe					RSRC1_ENST00000295930.3_Missense_Mutation_p.V96F|RSRC1_ENST00000312179.6_Missense_Mutation_p.V96F|RSRC1_ENST00000480820.1_Missense_Mutation_p.V96F|RSRC1_ENST00000475278.2_Missense_Mutation_p.V96F	p.V96F	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		3	411	+			96			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.286G>T	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323987	0.24080	.	.	ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899	.	.	.	5.19	3.03	0.35002	.	0.382649	0.25991	N	0.027011	T	0.17408	0.0418	N	0.08118	0	0.25121	N	0.990649	B;B;B	0.25667	0.032;0.009;0.131	B;B;B	0.22601	0.025;0.015;0.04	T	0.13953	-1.0490	9	0.54805	T	0.06	.	7.5181	0.27612	0.0:0.1177:0.4743:0.408	.	96;96;96	B4DTW0;Q96IZ7-2;Q96IZ7	.;.;RSRC1_HUMAN	F	96	.	ENSP00000295930:V96F	V	+	1	0	RSRC1	159324440	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.253000	0.51469	1.267000	0.44247	0.591000	0.81541	GTT		0.408	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		12	90	1	0	1.08611e-07	1	1.19938e-07	12	90				
FAM65B	9750	broad.mit.edu	37	6	24848286	24848286	+	Silent	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr6:24848286C>T	ENST00000259698.4	-	12	1219	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P	FAM65B_ENST00000510784.2_Silent_p.P382P|FAM65B_ENST00000540914.1_Silent_p.P348P|FAM65B_ENST00000538035.1_Silent_p.P377P|FAM65B_ENST00000378023.4_Silent_p.P348P	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	348					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGGGCGTTTCCGGGGTACCCT	0.532																																						ENST00000259698.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1042-1044)ccG>ccA		family with sequence similarity 65, member B							102.0	101.0	101.0					6																	24848286		1952	4141	6093	SO:0001819	synonymous_variant	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24848286C>T	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1044G>A	6.37:g.24848286C>T						FAM65B_ENST00000540914.1_Silent_p.P348P|FAM65B_ENST00000538035.1_Silent_p.P377P|FAM65B_ENST00000510784.2_Silent_p.P382P|FAM65B_ENST00000378023.4_Silent_p.P348P	p.P348P	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN			12	1219	-			348					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	c.1044G>A	CCDS47383.1																																																																																				0.532	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			5	40	0	0	0	1	0	5	40				
KIF5C	3800	broad.mit.edu	37	2	149806902	149806902	+	Silent	SNP	C	C	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:149806902C>A	ENST00000435030.1	+	10	1262	c.894C>A	c.(892-894)acC>acA	p.T298T	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.T203T|KIF5C_ENST00000397413.1_Silent_p.T66T			O60282	KIF5C_HUMAN	kinesin family member 5C	298	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ACTGCAGAACCACCATCGTCA	0.478																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(892-894)acC>acA		kinesin family member 5C							120.0	120.0	120.0					2																	149806902		1967	4168	6135	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149806902C>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.894C>A	2.37:g.149806902C>A						KIF5C_ENST00000397413.1_Silent_p.T66T|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.T203T	p.T298T			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	10	1262	+			298			Kinesin-motor.|Microtubule-binding.		O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.894C>A																																																																																					0.478	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		8	48	1	0	5.18039e-06	1	5.58366e-06	8	48				
DOK6	220164	broad.mit.edu	37	18	67406319	67406319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr18:67406319G>T	ENST00000382713.5	+	6	908	c.718G>T	c.(718-720)Gaa>Taa	p.E240*		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	240										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ATTAATGCTAGAAATGGAACA	0.453																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(718-720)Gaa>Taa		docking protein 6							110.0	106.0	107.0					18																	67406319		2203	4300	6503	SO:0001587	stop_gained	220164						insulin receptor binding	g.chr18:67406319G>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.718G>T	18.37:g.67406319G>T	ENSP00000372160:p.Glu240*						p.E240*	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			6	908	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	240					A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Nonsense_Mutation	SNP	ENST00000382713.5	37	c.718G>T	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137973	0.94517	.	.	ENSG00000206052	ENST00000382713	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-5.7732	19.6603	0.95864	0.0:0.0:1.0:0.0	.	.	.	.	X	240	.	ENSP00000372160:E240X	E	+	1	0	DOK6	65557299	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.682000	0.98655	2.894000	0.99253	0.591000	0.81541	GAA		0.453	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		41	94	1	0	8.69298e-16	1	9.90339e-16	41	94				
ALK	238	broad.mit.edu	37	2	29940550	29940550	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:29940550C>G	ENST00000389048.3	-	2	1587	c.681G>C	c.(679-681)ttG>ttC	p.L227F	ALK_ENST00000431873.1_Missense_Mutation_p.L227F	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	227					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TTGGTGATTCCAAGGAGCTAT	0.408			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(679-681)ttG>ttC		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						153.0	132.0	139.0					2																	29940550		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29940550C>G	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.681G>C	2.37:g.29940550C>G	ENSP00000373700:p.Leu227Phe					ALK_ENST00000431873.1_Missense_Mutation_p.L227F	p.L227F	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			2	1587	-	Acute lymphoblastic leukemia(172;0.155)		227					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.681G>C	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	4.591	0.109834	0.08780	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	D;T	0.81499	-1.5;2.41	5.25	0.303	0.15791	.	.	.	.	.	T	0.55000	0.1893	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34950	-0.9808	8	.	.	.	.	1.919	0.03303	0.1403:0.4949:0.1357:0.2291	.	227	Q9UM73	ALK_HUMAN	F	227	ENSP00000373700:L227F;ENSP00000414027:L227F	.	L	-	3	2	ALK	29794054	0.417000	0.25432	0.005000	0.12908	0.054000	0.15201	0.642000	0.24735	-0.164000	0.10927	0.655000	0.94253	TTG		0.408	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		11	100	0	0	0	1	0	11	100				
ZNF679	168417	broad.mit.edu	37	7	63720710	63720710	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr7:63720710A>G	ENST00000421025.1	+	3	420	c.151A>G	c.(151-153)Aac>Gac	p.N51D	ZNF679_ENST00000255746.4_Missense_Mutation_p.N51D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GAACTACAGAAACCTGGTCTC	0.373																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(151-153)Aac>Gac		zinc finger protein 679							46.0	41.0	42.0					7																	63720710		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63720710A>G	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.151A>G	7.37:g.63720710A>G	ENSP00000416809:p.Asn51Asp					ZNF679_ENST00000255746.4_Missense_Mutation_p.N51D	p.N51D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			3	420	+			51			KRAB.			Missense_Mutation	SNP	ENST00000421025.1	37	c.151A>G	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	a	13.90	2.375177	0.42105	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.02345	4.33;4.33	0.195	0.195	0.15151	Krueppel-associated box (4);	.	.	.	.	T	0.18341	0.0440	H	0.95950	3.745	0.21719	N	0.999576	D	0.76494	0.999	D	0.81914	0.995	T	0.03922	-1.0992	9	0.87932	D	0	.	4.8229	0.13400	0.9998:0.0:2.0E-4:0.0	.	51	Q8IYX0	ZN679_HUMAN	D	51	ENSP00000416809:N51D;ENSP00000255746:N51D	ENSP00000255746:N51D	N	+	1	0	ZNF679	63358145	0.001000	0.12720	0.407000	0.26434	0.410000	0.31052	0.672000	0.25187	0.257000	0.21650	0.254000	0.18369	AAC		0.373	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		35	122	0	0	0	1	0	35	122				
RIMS4	140730	broad.mit.edu	37	20	43386398	43386398	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr20:43386398C>G	ENST00000372851.3	-	4	430	c.364G>C	c.(364-366)Ggt>Cgt	p.G122R	RIMS4_ENST00000541604.2_Missense_Mutation_p.G123R	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	122	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TCCTGCAGACCGATCTCCACA	0.562																																						ENST00000372851.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29						c.(364-366)Ggt>Cgt		regulating synaptic membrane exocytosis 4							106.0	85.0	92.0					20																	43386398		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43386398C>G		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.364G>C	20.37:g.43386398C>G	ENSP00000361942:p.Gly122Arg					RIMS4_ENST00000541604.2_Missense_Mutation_p.G123R	p.G122R	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN			4	430	-		Myeloproliferative disorder(115;0.0122)	122			C2.		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.364G>C	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879962	0.72294	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.21734	1.99;2.01	5.91	5.91	0.95273	C2 calcium/lipid-binding domain, CaLB (1);	0.047490	0.85682	D	0.000000	T	0.46889	0.1416	M	0.74258	2.255	0.58432	D	0.999997	P;D	0.65815	0.845;0.995	P;P	0.59825	0.465;0.864	T	0.40478	-0.9561	10	0.87932	D	0	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	123;122	E1P613;Q9H426	.;RIMS4_HUMAN	R	122;123	ENSP00000361942:G122R;ENSP00000439287:G123R	ENSP00000361942:G122R	G	-	1	0	RIMS4	42819812	1.000000	0.71417	0.659000	0.29680	0.429000	0.31625	4.943000	0.63554	2.802000	0.96397	0.655000	0.94253	GGT		0.562	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		5	75	0	0	0	1	0	5	75				
LRRTM1	347730	broad.mit.edu	37	2	80530545	80530545	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:80530545G>C	ENST00000295057.3	-	2	1056	c.400C>G	c.(400-402)Cgg>Ggg	p.R134G	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R134G|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	134					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGCATGGGCCGGAAGGTGGTG	0.627										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(400-402)Cgg>Ggg		leucine rich repeat transmembrane neuronal 1							173.0	175.0	174.0					2																	80530545		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530545G>C	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.400C>G	2.37:g.80530545G>C	ENSP00000295057:p.Arg134Gly	HNSCC(69;0.2)				CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R134G|CTNNA2_ENST00000402739.4_Intron	p.R134G	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1056	-			134					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.400C>G	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823687	0.50739	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.88	4.88	0.63580	.	0.000000	0.85682	U	0.000000	T	0.47764	0.1463	N	0.05619	-0.005	0.80722	D	1	D	0.60160	0.987	P	0.56278	0.795	T	0.50583	-0.8811	9	.	.	.	.	18.0137	0.89232	0.0:0.0:1.0:0.0	.	134	Q86UE6	LRRT1_HUMAN	G	134	ENSP00000295057:R134G;ENSP00000386646:R134G;ENSP00000415368:R134G;ENSP00000389473:R134G	.	R	-	1	2	LRRTM1	80384056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.860000	0.69546	2.227000	0.72691	0.543000	0.68304	CGG		0.627	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		8	88	0	0	0	1	0	8	88				
PARPBP	55010	broad.mit.edu	37	12	102559554	102559554	+	Silent	SNP	T	T	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr12:102559554T>C	ENST00000358383.5	+	6	759	c.714T>C	c.(712-714)taT>taC	p.Y238Y	PARPBP_ENST00000392911.2_Silent_p.Y157Y|PARPBP_ENST00000543784.1_Silent_p.Y124Y|PARPBP_ENST00000327680.2_Silent_p.Y157Y|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000378128.3_Silent_p.Y238Y|PARPBP_ENST00000541394.1_Silent_p.Y315Y			Q9NWS1	PARI_HUMAN	PARP1 binding protein	238					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						GGAAAGGATATGCACCACCAC	0.338																																						ENST00000327680.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(469-471)taT>taC		PARP1 binding protein							137.0	136.0	136.0					12																	102559554		2203	4299	6502	SO:0001819	synonymous_variant	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102559554T>C	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.714T>C	12.37:g.102559554T>C						PARPBP_ENST00000541394.1_Silent_p.Y315Y|PARPBP_ENST00000543784.1_Silent_p.Y124Y|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Silent_p.Y157Y|PARPBP_ENST00000378128.3_Silent_p.Y238Y|PARPBP_ENST00000358383.5_Silent_p.Y238Y	p.Y157Y	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			7	934	+			238					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Silent	SNP	ENST00000358383.5	37	c.471T>C	CCDS9090.2																																																																																				0.338	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		8	130	0	0	0	1	0	8	130				
PBX4	80714	broad.mit.edu	37	19	19675809	19675809	+	Silent	SNP	C	C	T	rs200643734		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:19675809C>T	ENST00000251203.9	-	6	1144	c.858G>A	c.(856-858)acG>acA	p.T286T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	286					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TATCCACAGCCGTTTTACCCG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19083	0.0		0.001	False		,,,				2504	0.0					ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(856-858)acG>acA		pre-B-cell leukemia homeobox 4							293.0	295.0	294.0					19																	19675809		2203	4300	6503	SO:0001819	synonymous_variant	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19675809C>T	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.858G>A	19.37:g.19675809C>T							p.T286T	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			6	1144	-			286					A5D8Y0|B3KUK9	Silent	SNP	ENST00000251203.9	37	c.858G>A	CCDS12406.1																																																																																				0.527	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			22	263	0	0	0	1	0	22	263				
JAK1	3716	broad.mit.edu	37	1	65304245	65304245	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:65304245T>G	ENST00000342505.4	-	21	3118	c.2870A>C	c.(2869-2871)gAa>gCa	p.E957A	JAK1_ENST00000465376.1_5'Flank	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	957	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGGCAGAAATTCCATGATGAG	0.413			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2869-2871)gAa>gCa		Janus kinase 1							130.0	115.0	120.0					1																	65304245		1888	4110	5998	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65304245T>G	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2870A>C	1.37:g.65304245T>G	ENSP00000343204:p.Glu957Ala						p.E957A	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	21	3118	-			957			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2870A>C	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.688905	0.88735	.	.	ENSG00000162434	ENST00000342505	D	0.95103	-3.61	5.38	5.38	0.77491	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.96981	0.9014	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97771	1.0226	9	0.87932	D	0	-8.2322	15.566	0.76294	0.0:0.0:0.0:1.0	.	957	P23458	JAK1_HUMAN	A	957	ENSP00000343204:E957A	ENSP00000343204:E957A	E	-	2	0	JAK1	65076833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.458000	0.80787	2.254000	0.74563	0.533000	0.62120	GAA		0.413	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		18	51	0	0	0	1	0	18	51				
ARMC5	79798	broad.mit.edu	37	16	31477197	31477197	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr16:31477197G>T	ENST00000563544.1	+	6	2437	c.1891G>T	c.(1891-1893)Gtt>Ttt	p.V631F	ARMC5_ENST00000408912.3_Missense_Mutation_p.V726F|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000538189.1_Missense_Mutation_p.V663F|ARMC5_ENST00000412665.2_Missense_Mutation_p.V275F|ARMC5_ENST00000268314.4_Missense_Mutation_p.V631F			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	631										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAACCTGACGGTTCAGGCTGA	0.637																																						ENST00000408912.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2176-2178)Gtt>Ttt		armadillo repeat containing 5							34.0	41.0	38.0					16																	31477197		2167	4266	6433	SO:0001583	missense	79798						binding	g.chr16:31477197G>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1891G>T	16.37:g.31477197G>T	ENSP00000456877:p.Val631Phe					ARMC5_ENST00000412665.2_Missense_Mutation_p.V275F|ARMC5_ENST00000538189.1_Missense_Mutation_p.V663F|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Missense_Mutation_p.V631F|ARMC5_ENST00000563544.1_Missense_Mutation_p.V631F	p.V726F			Q96C12	ARMC5_HUMAN			7	2493	+			631					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.2176G>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528414	0.44969	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.56	5.56	0.83823	Armadillo-type fold (1);	0.075184	0.53938	D	0.000053	T	0.37544	0.1007	L	0.50333	1.59	0.38627	D	0.95127	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;D;D;D	0.72075	0.962;0.962;0.976;0.962	T	0.17077	-1.0381	10	0.54805	T	0.06	-19.3007	10.4542	0.44539	0.0876:0.0:0.9124:0.0	.	663;663;726;631	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	F	726;663;631;275	ENSP00000386125:V726F;ENSP00000443995:V663F;ENSP00000268314:V631F;ENSP00000400183:V275F	ENSP00000268314:V631F	V	+	1	0	ARMC5	31384698	1.000000	0.71417	0.188000	0.23233	0.304000	0.27724	4.759000	0.62227	2.620000	0.88729	0.655000	0.94253	GTT		0.637	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		5	34	1	0	1	1	1	5	34				
DOT1L	84444	broad.mit.edu	37	19	2216347	2216347	+	Missense_Mutation	SNP	C	C	T	rs377639105		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:2216347C>T	ENST00000398665.3	+	20	2027	c.1991C>T	c.(1990-1992)cCg>cTg	p.P664L	DOT1L_ENST00000608122.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	664					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGTGTGCCGCCTGACGAC	0.682																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1990-1992)cCg>cTg		DOT1-like histone H3K79 methyltransferase		C	LEU/PRO	0,4036		0,0,2018	30.0	34.0	33.0		1991	4.1	0.9	19		33	1,8341		0,1,4170	no	missense	DOT1L	NM_032482.2	98	0,1,6188	TT,TC,CC		0.012,0.0,0.0081	benign	664/1538	2216347	1,12377	2018	4171	6189	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216347C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1991C>T	19.37:g.2216347C>T	ENSP00000381657:p.Pro664Leu						p.P664L	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2027	+		Hepatocellular(1079;0.137)	664					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.1991C>T	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.55|15.55	2.868182|2.868182	0.51588|0.51588	0.0|0.0	1.2E-4|1.2E-4	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482|ENST00000440640	T|.	0.25250|.	1.81|.	5.13|5.13	4.1|4.1	0.47936|0.47936	.|.	0.111630|.	0.64402|.	N|.	0.000006|.	T|T	0.59018|0.59018	0.2163|0.2163	L|L	0.54323|0.54323	1.7|1.7	0.48452|0.48452	D|D	0.999659|0.999659	P|.	0.48503|.	0.911|.	B|.	0.37888|.	0.26|.	T|T	0.55848|0.55848	-0.8076|-0.8076	10|5	0.87932|.	D|.	0|.	-23.2795|-23.2795	8.7781|8.7781	0.34774|0.34774	0.0:0.8305:0.0:0.1695|0.0:0.8305:0.0:0.1695	.|.	664|.	Q8TEK3-2|.	.|.	L|C	664|451	ENSP00000381657:P664L|.	ENSP00000221482:P664L|.	P|R	+|+	2|1	0|0	DOT1L|DOT1L	2167347|2167347	1.000000|1.000000	0.71417|0.71417	0.901000|0.901000	0.35422|0.35422	0.257000|0.257000	0.26127|0.26127	4.443000|4.443000	0.59994|0.59994	1.153000|1.153000	0.42468|0.42468	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.682	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		21	67	0	0	0	1	0	21	67				
TRIM59	286827	broad.mit.edu	37	3	160156358	160156358	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:160156358G>A	ENST00000309784.4	-	3	799	c.614C>T	c.(613-615)aCg>aTg	p.T205M	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.T205M|TRIM59_ENST00000543469.1_Missense_Mutation_p.T205M	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	205					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACAGAGAGCCGTTAGGAAACT	0.358																																						ENST00000543469.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(613-615)aCg>aTg		tripartite motif containing 59							65.0	68.0	67.0					3																	160156358		2198	4298	6496	SO:0001583	missense	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156358G>A	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.614C>T	3.37:g.160156358G>A	ENSP00000311219:p.Thr205Met					TRIM59_ENST00000309784.4_Missense_Mutation_p.T205M|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.T205M	p.T205M			Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	828	-			205					A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	c.614C>T	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228152	0.22542	.	.	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.24350	2.01;1.86	5.32	4.44	0.53790	.	0.665366	0.16210	N	0.224529	T	0.18045	0.0433	L	0.29908	0.895	0.09310	N	1	P	0.49358	0.923	B	0.35182	0.197	T	0.05370	-1.0889	9	.	.	.	-10.425	16.0284	0.80558	0.0:0.253:0.747:0.0	.	205	Q8IWR1	TRI59_HUMAN	M	205	ENSP00000444313:T205M;ENSP00000311219:T205M	.	T	-	2	0	TRIM59	161639052	0.003000	0.15002	0.080000	0.20451	0.594000	0.36715	1.267000	0.33050	1.365000	0.46057	0.561000	0.74099	ACG		0.358	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		117	133	0	0	0	1	0	117	133				
MRPS15	64960	broad.mit.edu	37	1	36926340	36926340	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:36926340T>C	ENST00000373116.5	-	5	499	c.338A>G	c.(337-339)aAg>aGg	p.K113R	MRPS15_ENST00000488606.1_5'Flank	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	113					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACAATCTTCTTCATAAACTG	0.512																																						ENST00000373116.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14						c.(337-339)aAg>aGg		mitochondrial ribosomal protein S15							164.0	159.0	160.0					1																	36926340		2203	4300	6503	SO:0001583	missense	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36926340T>C	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.338A>G	1.37:g.36926340T>C	ENSP00000362208:p.Lys113Arg						p.K113R	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN			5	499	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	113					B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	37	c.338A>G	CCDS411.1	.	.	.	.	.	.	.	.	.	.	T	8.027	0.760851	0.15914	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.27	0.431	0.16523	S15/NS1, RNA-binding (2);	0.611006	0.18358	N	0.143643	T	0.34135	0.0887	L	0.41632	1.29	0.25668	N	0.98592	B	0.12630	0.006	B	0.09377	0.004	T	0.20806	-1.0264	9	0.39692	T	0.17	-4.3122	8.6017	0.33749	0.0:0.3127:0.0:0.6873	.	113	P82914	RT15_HUMAN	R	113	.	ENSP00000362208:K113R	K	-	2	0	MRPS15	36698927	0.965000	0.33210	0.381000	0.26106	0.213000	0.24496	0.220000	0.17660	0.098000	0.17522	0.533000	0.62120	AAG		0.512	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		21	46	0	0	0	1	0	21	46				
ZNF358	140467	broad.mit.edu	37	19	7585034	7585034	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:7585034G>C	ENST00000597229.1	+	2	1076	c.906G>C	c.(904-906)caG>caC	p.Q302H	MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.Q302H	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	302					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCTTCGGGCAGAGCTCGGCGC	0.701																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(904-906)caG>caC		zinc finger protein 358							17.0	18.0	18.0					19																	7585034		2193	4288	6481	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585034G>C	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.906G>C	19.37:g.7585034G>C	ENSP00000472305:p.Gln302His					CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.Q302H	p.Q302H	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN			2	1076	+			302					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.906G>C	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421021	0.42918	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.05513	3.43	4.57	4.57	0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06325	0.0163	L	0.33189	0.99	0.31059	N	0.714364	B	0.28783	0.222	B	0.27076	0.076	T	0.04767	-1.0928	9	0.40728	T	0.16	-19.8575	11.1846	0.48648	0.0:0.1868:0.8132:0.0	.	302	Q9NW07	ZN358_HUMAN	H	302	ENSP00000377873:Q302H	ENSP00000354703:Q302H	Q	+	3	2	ZNF358	7491034	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.026000	0.12392	2.265000	0.75225	0.462000	0.41574	CAG		0.701	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			18	38	0	0	0	1	0	18	38				
ANKLE2	23141	broad.mit.edu	37	12	133327346	133327346	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr12:133327346C>T	ENST00000357997.5	-	3	819	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ANKLE2_ENST00000539605.1_Missense_Mutation_p.E182K|ANKLE2_ENST00000337516.5_Missense_Mutation_p.E244K	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	244					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCAGCGTCTTCTCTGGTAGAA	0.393																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(544-546)Gaa>Aaa		ankyrin repeat and LEM domain containing 2							144.0	139.0	140.0					12																	133327346		1828	4090	5918	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327346C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.730G>A	12.37:g.133327346C>T	ENSP00000350686:p.Glu244Lys					ANKLE2_ENST00000337516.5_Missense_Mutation_p.E244K|ANKLE2_ENST00000357997.5_Missense_Mutation_p.E244K	p.E182K			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	2	7228	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	244					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.544G>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	31	5.090288	0.94149	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T	0.36699	1.57;1.59;1.24	5.72	5.72	0.89469	Ribonuclease H1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.76071	0.956;0.987	T	0.54470	-0.8289	10	0.36615	T	0.2	-6.3291	19.8807	0.96899	0.0:1.0:0.0:0.0	.	244;244	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	K	182;244;244;14	ENSP00000446268:E182K;ENSP00000350686:E244K;ENSP00000337651:E244K	ENSP00000337651:E244K	E	-	1	0	ANKLE2	131837419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.432000	0.80349	2.704000	0.92352	0.650000	0.86243	GAA		0.393	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			33	86	0	0	0	1	0	33	86				
ZNF334	55713	broad.mit.edu	37	20	45130958	45130958	+	Missense_Mutation	SNP	G	G	C	rs35251052		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr20:45130958G>C	ENST00000347606.4	-	5	1202	c.1020C>G	c.(1018-1020)ttC>ttG	p.F340L	ZNF334_ENST00000457685.2_Missense_Mutation_p.F302L|ZNF334_ENST00000593880.1_Missense_Mutation_p.F363L	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	340					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTGTGACCTGAAATGTTCAG	0.438																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(904-906)ttC>ttG		zinc finger protein 334							147.0	150.0	149.0					20																	45130958		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130958G>C	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1020C>G	20.37:g.45130958G>C	ENSP00000255129:p.Phe340Leu					ZNF334_ENST00000347606.4_Missense_Mutation_p.F340L|ZNF334_ENST00000593880.1_Missense_Mutation_p.F363L	p.F302L			Q9HCZ1	ZN334_HUMAN			6	2229	-		Myeloproliferative disorder(115;0.0122)	340					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.906C>G	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	6.881	0.531994	0.13127	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.14893	3.39;2.47	3.3	-3.18	0.05186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03263	0.0095	N	0.00327	-1.64	0.20926	N	0.999828	B;B;B	0.21905	0.062;0.062;0.062	B;B;B	0.23716	0.048;0.048;0.048	T	0.35574	-0.9783	9	0.56958	D	0.05	.	0.8927	0.01257	0.3078:0.2882:0.2577:0.1463	.	302;340;363	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	L	302;340	ENSP00000402582:F302L;ENSP00000255129:F340L	ENSP00000255129:F340L	F	-	3	2	ZNF334	44564365	0.003000	0.15002	0.112000	0.21494	0.986000	0.74619	0.149000	0.16243	-0.383000	0.07858	0.591000	0.81541	TTC		0.438	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			16	239	0	0	0	1	0	16	239				
SMARCD2	6603	broad.mit.edu	37	17	61910996	61910996	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr17:61910996A>G	ENST00000448276.2	-	10	1533	c.1268T>C	c.(1267-1269)tTt>tCt	p.F423S	SMARCD2_ENST00000225742.9_Missense_Mutation_p.F348S|SMARCD2_ENST00000323347.10_Missense_Mutation_p.F375S	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	423					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						AGAGGCCAGAAAATTGCTCAT	0.582																																						ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(1267-1269)tTt>tCt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							108.0	109.0	109.0					17																	61910996		2076	4212	6288	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61910996A>G	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1268T>C	17.37:g.61910996A>G	ENSP00000392617:p.Phe423Ser					SMARCD2_ENST00000323347.10_Missense_Mutation_p.F375S|SMARCD2_ENST00000225742.9_Missense_Mutation_p.F348S	p.F423S	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			10	1533	-			423					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.1268T>C	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.331995	0.24167	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.53206	0.63;0.68	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	M	0.89904	3.07	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.85130	0.986;0.997;0.997	T	0.79514	-0.1772	10	0.87932	D	0	-2.3509	13.502	0.61462	1.0:0.0:0.0:0.0	.	375;386;423	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	S	423;365;386;375	ENSP00000392617:F423S;ENSP00000318451:F375S	ENSP00000225742:F365S	F	-	2	0	SMARCD2	59264728	1.000000	0.71417	0.999000	0.59377	0.191000	0.23601	9.139000	0.94554	2.288000	0.76882	0.533000	0.62120	TTT		0.582	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		18	87	0	0	0	1	0	18	87				
INPPL1	3636	broad.mit.edu	37	11	71946742	71946742	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr11:71946742G>A	ENST00000298229.2	+	24	2887	c.2683G>A	c.(2683-2685)Gag>Aag	p.E895K	INPPL1_ENST00000541756.1_Missense_Mutation_p.E653K|INPPL1_ENST00000538751.1_Missense_Mutation_p.E653K	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	895					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGATAAGGATGAGGCAGGAGC	0.602																																						ENST00000298229.2																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2683-2685)Gag>Aag		inositol polyphosphate phosphatase-like 1							63.0	61.0	62.0					11																	71946742		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71946742G>A	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2683G>A	11.37:g.71946742G>A	ENSP00000298229:p.Glu895Lys					INPPL1_ENST00000541756.1_Missense_Mutation_p.E653K|INPPL1_ENST00000538751.1_Missense_Mutation_p.E653K	p.E895K	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			24	2887	+			895					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.2683G>A	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	19.31	3.803557	0.70682	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.33438	1.41;1.41;1.41	5.46	4.54	0.55810	.	0.055794	0.64402	D	0.000001	T	0.26268	0.0641	L	0.54323	1.7	0.34350	D	0.689759	P	0.39782	0.688	B	0.28849	0.095	T	0.47368	-0.9123	10	0.59425	D	0.04	.	13.1639	0.59560	0.0779:0.0:0.9221:0.0	.	895	O15357	SHIP2_HUMAN	K	895;653;653	ENSP00000298229:E895K;ENSP00000446360:E653K;ENSP00000444619:E653K	ENSP00000298229:E895K	E	+	1	0	INPPL1	71624390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.299000	0.44798	0.561000	0.74099	GAG		0.602	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		27	51	0	0	0	1	0	27	51				
SDE2	163859	broad.mit.edu	37	1	226173192	226173192	+	Silent	SNP	C	C	T	rs201730097	byFrequency	TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:226173192C>T	ENST00000272091.7	-	7	1185	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	389								p.A377A(1)|p.A389A(1)									CAGAGGTGAACGCCAATAAAT	0.428													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17162	0.0		0.001	False		,,,				2504	0.001					ENST00000272091.7																			2	Substitution - coding silent(2)	p.A377A(1)|p.A389A(1)	lung(2)								c.(1165-1167)gcG>gcA		SDE2 telomere maintenance homolog (S. pombe)		C		1,3767		0,1,1883	80.0	76.0	77.0		1167	-10.6	0.0	1		77	6,8190		0,6,4092	no	coding-synonymous	C1orf55	NM_152608.3		0,7,5975	TT,TC,CC		0.0732,0.0265,0.0585		389/452	226173192	7,11957	1884	4098	5982	SO:0001819	synonymous_variant	163859							g.chr1:226173192C>T	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.1167G>A	1.37:g.226173192C>T						SDE2_ENST00000366817.1_Silent_p.A294A	p.A389A	NM_152608.3	NP_689821.3					7	1185	-								A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Silent	SNP	ENST00000272091.7	37	c.1167G>A	CCDS41473.1																																																																																				0.428	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		19	70	0	0	0	1	0	19	70				
TTN	7273	broad.mit.edu	37	2	179593405	179593405	+	Silent	SNP	C	C	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:179593405C>A	ENST00000591111.1	-	64	18521	c.18297G>T	c.(18295-18297)gtG>gtT	p.V6099V	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.V5172V|TTN_ENST00000589042.1_Silent_p.V6416V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12886	Ig-like 42.				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)			TAAGCCATTTCACTTTGAGTT	0.393																																						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.(19246-19248)gtG>gtT		titin							99.0	89.0	92.0					2																	179593405		1865	4098	5963	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593405C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18297G>T	2.37:g.179593405C>A						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V5172V|TTN_ENST00000591111.1_Silent_p.V6099V|TTN_ENST00000342175.6_Intron	p.V6416V	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)		66	19472	-			6099			Ig-like 45.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.19248G>T																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	44	1	0	6.21321e-17	1	7.16909e-17	25	44				
RIMS4	140730	broad.mit.edu	37	20	43379120	43379120	+	IGR	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr20:43379120G>C	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.E212Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GCAGAGCGGCGAGGCGCTGCA	0.622																																						ENST00000372861.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(634-636)Gag>Cag		potassium channel, subfamily K, member 15							74.0	65.0	68.0					20																	43379120		2203	4300	6503	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43379120G>C		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43379120G>C							p.E212Q	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN			2	765	+		Myeloproliferative disorder(115;0.0122)	212					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.634G>C	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	6.218	0.408345	0.11754	.	.	ENSG00000124249	ENST00000372861	T	0.13307	2.6	4.51	4.51	0.55191	Ion transport 2 (1);	0.138857	0.45867	D	0.000336	T	0.11067	0.0270	N	0.16233	0.39	0.41904	D	0.990434	B	0.33318	0.408	B	0.38755	0.281	T	0.22941	-1.0202	10	0.12430	T	0.62	.	17.4022	0.87463	0.0:0.0:1.0:0.0	.	212	Q9H427	KCNKF_HUMAN	Q	212	ENSP00000361952:E212Q	ENSP00000361952:E212Q	E	+	1	0	KCNK15	42812534	1.000000	0.71417	0.807000	0.32361	0.002000	0.02628	7.664000	0.83830	2.330000	0.79161	0.655000	0.94253	GAG		0.622	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		9	57	0	0	0	1	0	9	57				
PRCC	5546	broad.mit.edu	37	1	156756871	156756871	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:156756871A>G	ENST00000271526.4	+	3	1260	c.988A>G	c.(988-990)Agt>Ggt	p.S330G	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.S330G	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	330					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCAGGTTCAAGTGGGGCCCC	0.567			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(988-990)Agt>Ggt		papillary renal cell carcinoma (translocation-associated)							140.0	150.0	146.0					1																	156756871		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156756871A>G	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.988A>G	1.37:g.156756871A>G	ENSP00000271526:p.Ser330Gly					PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.S330G	p.S330G	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			3	1260	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		330					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.988A>G	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970354	0.74246	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	T;T	0.46451	1.03;0.87	5.77	4.58	0.56647	.	0.149146	0.64402	D	0.000013	T	0.17280	0.0415	L	0.27053	0.805	0.39409	D	0.966719	B;D	0.53151	0.053;0.958	B;B	0.44224	0.016;0.444	T	0.02070	-1.1219	10	0.18276	T	0.48	-4.6711	11.6225	0.51126	0.8515:0.1485:0.0:0.0	.	330;330	A6NG79;Q92733	.;PRCC_HUMAN	G	330;330;274;69	ENSP00000271526:S330G;ENSP00000339300:S330G	ENSP00000271526:S330G	S	+	1	0	PRCC	155023495	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.686000	0.54685	2.203000	0.70933	0.533000	0.62120	AGT		0.567	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		41	251	0	0	0	1	0	41	251				
NUP155	9631	broad.mit.edu	37	5	37363995	37363995	+	Silent	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr5:37363995C>T	ENST00000231498.3	-	3	590	c.387G>A	c.(385-387)gaG>gaA	p.E129E	NUP155_ENST00000513532.1_Silent_p.E129E|NUP155_ENST00000381843.2_Silent_p.E70E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	129					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATACCCATCCTCATAGTTCC	0.393																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(385-387)gaG>gaA		nucleoporin 155kDa							171.0	145.0	154.0					5																	37363995		2203	4300	6503	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37363995C>T	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.387G>A	5.37:g.37363995C>T						NUP155_ENST00000513532.1_Silent_p.E129E|NUP155_ENST00000381843.2_Silent_p.E70E	p.E129E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	590	-	all_lung(31;0.000137)		129					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.387G>A	CCDS3921.1																																																																																				0.393	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		41	52	0	0	0	1	0	41	52				
ACY1	95	broad.mit.edu	37	3	52022615	52022615	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:52022615G>A	ENST00000404366.2	+	13	1143	c.997G>A	c.(997-999)Gat>Aat	p.D333N	ACY1_ENST00000494103.1_Missense_Mutation_p.D261N|ACY1_ENST00000476351.1_Missense_Mutation_p.D298N|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.D434N|ACY1_ENST00000476854.1_Missense_Mutation_p.D268N|ACY1_ENST00000458031.2_Missense_Mutation_p.D423N	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	333					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	GGTCTGCAAGGATATGTGAGC	0.592																																						ENST00000458031.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(1267-1269)Gat>Aat		aminoacylase 1	L-Aspartic Acid(DB00128)						108.0	98.0	101.0					3																	52022615		2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52022615G>A	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.997G>A	3.37:g.52022615G>A	ENSP00000384296:p.Asp333Asn					ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.D434N|ACY1_ENST00000494103.1_Missense_Mutation_p.D261N|ACY1_ENST00000404366.2_Missense_Mutation_p.D333N|ACY1_ENST00000476854.1_Missense_Mutation_p.D268N|ACY1_ENST00000476351.1_Missense_Mutation_p.D298N	p.D423N			Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	15	1498	+			333					C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	c.1267G>A	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170129	0.57584	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.55	4.68	0.58851	.	0.546901	0.20701	N	0.087270	T	0.30230	0.0758	N	0.12569	0.235	0.33049	D	0.532505	B;B	0.12013	0.005;0.0	B;B	0.14023	0.01;0.002	T	0.34204	-0.9838	10	0.48119	T	0.1	-0.6011	11.1398	0.48396	0.151:0.0:0.849:0.0	.	423;333	B4DNW0;Q03154	.;ACY1_HUMAN	N	423;434;333;268;298;261;333	ENSP00000390557:D423N;ENSP00000420487:D434N;ENSP00000419262:D268N;ENSP00000417056:D298N;ENSP00000417618:D261N;ENSP00000384296:D333N	ENSP00000384296:D333N	D	+	1	0	ACY1;RP11-155D18.11	51997655	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.365000	0.59486	1.333000	0.45449	0.561000	0.74099	GAT		0.592	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		12	81	0	0	0	1	0	12	81				
ABCC11	85320	broad.mit.edu	37	16	48256716	48256716	+	Silent	SNP	T	T	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr16:48256716T>C	ENST00000394747.1	-	5	919	c.570A>G	c.(568-570)gaA>gaG	p.E190E	ABCC11_ENST00000537808.1_Silent_p.E190E|ABCC11_ENST00000394748.1_Silent_p.E190E|ABCC11_ENST00000353782.5_Silent_p.E190E|ABCC11_ENST00000356608.2_Silent_p.E190E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	190	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CTTCTGAATATTCCAGGATCT	0.443																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(568-570)gaA>gaG		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							69.0	68.0	68.0					16																	48256716		2200	4300	6500	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48256716T>C	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.570A>G	16.37:g.48256716T>C						ABCC11_ENST00000356608.2_Silent_p.E190E|ABCC11_ENST00000537808.1_Silent_p.E190E|ABCC11_ENST00000394748.1_Silent_p.E190E|ABCC11_ENST00000353782.5_Silent_p.E190E	p.E190E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			5	919	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	190			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.570A>G	CCDS10732.1																																																																																				0.443	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		16	45	0	0	0	1	0	16	45				
VPS13B	157680	broad.mit.edu	37	8	100779109	100779109	+	Silent	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr8:100779109C>T	ENST00000358544.2	+	40	7344	c.7233C>T	c.(7231-7233)atC>atT	p.I2411I	VPS13B_ENST00000357162.2_Silent_p.I2386I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2411					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)			TGCCGGATATCAATCTCGTGA	0.383																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(7231-7233)atC>atT		vacuolar protein sorting 13 homolog B (yeast)							81.0	79.0	80.0					8																	100779109		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100779109C>T	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.7233C>T	8.37:g.100779109C>T						VPS13B_ENST00000357162.2_Silent_p.I2386I|VPS13B_ENST00000395996.1_3'UTR	p.I2411I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		40	7344	+	Breast(36;3.73e-07)		2411					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.7233C>T	CCDS6280.1																																																																																				0.383	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		8	87	0	0	0	1	0	8	87				
FIGNL1	63979	broad.mit.edu	37	7	50514663	50514663	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr7:50514663T>C	ENST00000419119.1	-	2	1876	c.323A>G	c.(322-324)aAt>aGt	p.N108S	FIGNL1_ENST00000356889.4_Missense_Mutation_p.N108S|FIGNL1_ENST00000395556.2_Missense_Mutation_p.N108S|FIGNL1_ENST00000435566.1_3'UTR|FIGNL1_ENST00000433017.1_Missense_Mutation_p.N108S			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	108					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTTGAAAACATTATTTATTGA	0.368																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(322-324)aAt>aGt		fidgetin-like 1							90.0	92.0	92.0					7																	50514663		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514663T>C	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.323A>G	7.37:g.50514663T>C	ENSP00000410811:p.Asn108Ser					FIGNL1_ENST00000435566.1_3'UTR|FIGNL1_ENST00000433017.1_Missense_Mutation_p.N108S|FIGNL1_ENST00000395556.2_Missense_Mutation_p.N108S|FIGNL1_ENST00000356889.4_Missense_Mutation_p.N108S	p.N108S			Q6PIW4	FIGL1_HUMAN			2	1876	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	108					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.323A>G	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624058	0.28889	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000436590	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.22	1.57	0.23409	.	0.107337	0.64402	N	0.000010	T	0.17066	0.0410	L	0.54323	1.7	0.80722	D	1	B	0.17465	0.022	B	0.12837	0.008	T	0.05500	-1.0881	10	0.44086	T	0.13	-17.3592	5.5421	0.17043	0.0:0.2205:0.1353:0.6442	.	108	Q6PIW4	FIGL1_HUMAN	S	108	ENSP00000349356:N108S;ENSP00000378924:N108S;ENSP00000399997:N108S;ENSP00000410811:N108S;ENSP00000394070:N108S	ENSP00000349356:N108S	N	-	2	0	FIGNL1	50482157	0.998000	0.40836	0.914000	0.36105	0.989000	0.77384	0.539000	0.23175	0.398000	0.25338	0.460000	0.39030	AAT		0.368	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		43	70	0	0	0	1	0	43	70				
C2	717	broad.mit.edu	37	6	31907070	31907070	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr6:31907070A>G	ENST00000299367.5	+	9	1468	c.1192A>G	c.(1192-1194)Atc>Gtc	p.I398V	C2_ENST00000442278.2_Missense_Mutation_p.I266V|CFB_ENST00000556679.1_Missense_Mutation_p.I245V|C2_ENST00000469372.1_Missense_Mutation_p.I152V|C2_ENST00000452323.2_Missense_Mutation_p.I184V|CFB_ENST00000456570.1_Missense_Mutation_p.I245V|CFB_ENST00000477310.1_Missense_Mutation_p.I216V	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	398	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GATCCTGAACATCAACCAGAA	0.468																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(733-735)Atc>Gtc		complement factor B							116.0	121.0	119.0					6																	31907070		1510	2709	4219	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31907070A>G		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1192A>G	6.37:g.31907070A>G	ENSP00000299367:p.Ile398Val					C2_ENST00000299367.5_Missense_Mutation_p.I398V|CFB_ENST00000556679.1_Missense_Mutation_p.I245V|C2_ENST00000469372.1_Missense_Mutation_p.I152V|CFB_ENST00000477310.1_Missense_Mutation_p.I216V|C2_ENST00000442278.2_Missense_Mutation_p.I266V|C2_ENST00000452323.2_Missense_Mutation_p.I184V	p.I245V			P00751	CFAB_HUMAN			6	788	+			411					B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.733A>G	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	A	6.860	0.527904	0.13127	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310	T;T;T;T;T;T;T;D	0.83075	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.68	5.34	4.19	0.49359	von Willebrand factor, type A (3);	0.185256	0.26432	N	0.024415	T	0.72374	0.3452	M	0.69523	2.12	0.23724	N	0.997016	B;B;B;B;B;B;B;B;P	0.45594	0.001;0.226;0.226;0.093;0.093;0.184;0.093;0.036;0.862	B;B;B;B;B;B;B;B;P	0.46585	0.003;0.09;0.055;0.053;0.053;0.05;0.053;0.032;0.521	T	0.64732	-0.6338	10	0.33141	T	0.24	-20.0004	6.8576	0.24050	0.8183:0.0:0.1817:0.0	.	245;369;184;152;266;83;266;398;185	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0	.;.;.;.;.;.;.;CO2_HUMAN;.	V	152;185;185;184;398;83;266;245;245;216	ENSP00000418923:I152V;ENSP00000417482:I185V;ENSP00000392322:I184V;ENSP00000299367:I398V;ENSP00000395683:I266V;ENSP00000451848:I245V;ENSP00000410815:I245V;ENSP00000418996:I216V	ENSP00000299367:I398V	I	+	1	0	CFB;C2;XXbac-BPG116M5.17	32015049	1.000000	0.71417	0.666000	0.29783	0.031000	0.12232	1.991000	0.40727	0.886000	0.36113	0.383000	0.25322	ATC		0.468	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			9	68	0	0	0	1	0	9	68				
APOBEC3D	140564	broad.mit.edu	37	22	39427873	39427873	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr22:39427873A>G	ENST00000216099.8	+	6	1344	c.937A>G	c.(937-939)Acc>Gcc	p.T313A	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T129A|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T313A	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	313					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CGTGAATCTCACCATCTTCAC	0.587																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(937-939)Acc>Gcc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							68.0	69.0	69.0					22																	39427873		1568	3582	5150	SO:0001583	missense	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39427873A>G	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.937A>G	22.37:g.39427873A>G	ENSP00000216099:p.Thr313Ala					APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T129A|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T313A	p.T313A	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			6	1344	+	Melanoma(58;0.04)		313					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	c.937A>G	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	8.625	0.892419	0.17613	.	.	ENSG00000243811	ENST00000381568;ENST00000216099;ENST00000427494	T;T;T	0.63096	-0.02;-0.02;-0.02	1.84	0.758	0.18432	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.49029	0.1533	L	0.56769	1.78	0.09310	N	1	B;B	0.32409	0.37;0.004	B;B	0.30316	0.114;0.009	T	0.31530	-0.9940	9	0.23302	T	0.38	.	3.2024	0.06653	0.7404:0.0:0.2596:0.0	.	129;313	Q6ICH2;Q96AK3	.;ABC3D_HUMAN	A	313;313;129	ENSP00000370980:T313A;ENSP00000216099:T313A;ENSP00000388017:T129A	ENSP00000216099:T313A	T	+	1	0	APOBEC3D	37757819	1.000000	0.71417	0.006000	0.13384	0.005000	0.04900	1.528000	0.35985	0.174000	0.19809	0.352000	0.21897	ACC		0.587	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		24	104	0	0	0	1	0	24	104				
SEMA3G	56920	broad.mit.edu	37	3	52469793	52469793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:52469793G>T	ENST00000231721.2	-	16	2174	c.2175C>A	c.(2173-2175)taC>taA	p.Y725*		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	725					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGCGCTCACAGTACTCATCCA	0.687																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(2173-2175)taC>taA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							64.0	69.0	67.0					3																	52469793		2203	4300	6503	SO:0001587	stop_gained	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52469793G>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.2175C>A	3.37:g.52469793G>T	ENSP00000231721:p.Tyr725*						p.Y725*	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	16	2174	-			725					Q7L9D9|Q9H7Q3	Nonsense_Mutation	SNP	ENST00000231721.2	37	c.2175C>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613015	0.66672	.	.	ENSG00000010319	ENST00000231721	.	.	.	4.84	3.96	0.45880	.	0.156544	0.44688	D	0.000422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3303	0.43818	0.0751:0.1352:0.7897:0.0	.	.	.	.	X	725	.	ENSP00000231721:Y725X	Y	-	3	2	SEMA3G	52444833	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	3.657000	0.54474	1.262000	0.44165	0.650000	0.86243	TAC		0.687	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		26	75	1	0	3.6726e-16	1	4.21063e-16	26	75				
KIAA0319L	79932	broad.mit.edu	37	1	35936496	35936496	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:35936496C>A	ENST00000325722.3	-	6	1315	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	361	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAATGTTTCCCTTCCATTTCT	0.418																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(1081-1083)Ggg>Tgg		KIAA0319-like							169.0	155.0	160.0					1																	35936496		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35936496C>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1081G>T	1.37:g.35936496C>A	ENSP00000318406:p.Gly361Trp					KIAA0319L_ENST00000485551.1_5'UTR	p.G361W	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			6	1315	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	361			PKD 1.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.1081G>T	CCDS390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.33|19.33	3.806927|3.806927	0.70797|0.70797	.|.	.|.	ENSG00000142687|ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579|ENST00000431916	T;T;T|.	0.14391|.	3.06;3.07;2.51|.	6.17|6.17	5.26|5.26	0.73747|0.73747	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);|.	0.100037|.	0.64402|.	D|.	0.000002|.	T|T	0.79563|0.79563	0.4467|0.4467	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.996;0.998;0.984|.	T|T	0.82868|0.82868	-0.0244|-0.0244	10|5	0.72032|.	D|.	0.01|.	-9.2016|-9.2016	13.4305|13.4305	0.61053|0.61053	0.0:0.9237:0.0:0.0763|0.0:0.9237:0.0:0.0763	.|.	361;361;361|.	Q8IZA0-2;B1AN14;Q8IZA0|.	.;.;K319L_HUMAN|.	W|M	361|190	ENSP00000318406:G361W;ENSP00000395883:G361W;ENSP00000407576:G361W|.	ENSP00000318406:G361W|.	G|R	-|-	1|2	0|0	KIAA0319L|KIAA0319L	35709083|35709083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.887000|3.887000	0.56197|0.56197	1.598000|1.598000	0.50083|0.50083	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.418	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		10	98	1	0	6.40141e-05	1	6.77796e-05	10	98				
PRKCI	5584	broad.mit.edu	37	3	169940505	169940505	+	Silent	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:169940505C>T	ENST00000295797.4	+	1	353	c.48C>T	c.(46-48)ggC>ggT	p.G16G		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	16	Regulatory domain.|Required for interaction with RAB2.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CGGTCGCAGGCGGCGGCAGCG	0.721																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(46-48)ggC>ggT		protein kinase C, iota							21.0	18.0	19.0					3																	169940505		2186	4294	6480	SO:0001819	synonymous_variant	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169940505C>T		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.48C>T	3.37:g.169940505C>T							p.G16G	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	353	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		16			Regulatory domain.|Required for interaction with RAB2.		D3DNQ4|Q8WW06	Silent	SNP	ENST00000295797.4	37	c.48C>T	CCDS3212.2																																																																																				0.721	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		3	10	0	0	0	1	0	3	10				
POTEA	340441	broad.mit.edu	37	8	43173690	43173690	+	RNA	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr8:43173690G>C	ENST00000522175.2	+	0	976							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTGATGGTGGATTAGTTCCA	0.413																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							153.0	148.0	150.0					8																	43173690		2197	4297	6494			340441							g.chr8:43173690G>C	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43173690G>C										Q6S8J7	POTEA_HUMAN			0	976	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.413	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		74	70	0	0	0	1	0	74	70				
NCAN	1463	broad.mit.edu	37	19	19338281	19338281	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:19338281C>T	ENST00000252575.6	+	8	1951	c.1852C>T	c.(1852-1854)Ccc>Tcc	p.P618S	NCAN_ENST00000538881.1_Missense_Mutation_p.P69S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	618					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CAGCCCTGCCCCCTGGGAGGC	0.647																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1852-1854)Ccc>Tcc		neurocan							44.0	43.0	43.0					19																	19338281		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338281C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1852C>T	19.37:g.19338281C>T	ENSP00000252575:p.Pro618Ser					NCAN_ENST00000538881.1_Missense_Mutation_p.P69S	p.P618S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	1895	+			618					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1852C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.240140	0.22711	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.84730	-1.67;-1.89	4.22	-1.94	0.07571	.	0.865378	0.09635	N	0.775780	T	0.60235	0.2253	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.13407	0.009;0.003	T	0.50285	-0.8846	10	0.08179	T	0.78	.	0.5469	0.00655	0.1773:0.3253:0.1736:0.3238	.	632;618	Q4LE67;O14594	.;NCAN_HUMAN	S	632;618;69	ENSP00000252575:P618S;ENSP00000442202:P69S	ENSP00000252575:P618S	P	+	1	0	NCAN	19199281	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.220000	0.09215	-0.099000	0.12263	0.561000	0.74099	CCC		0.647	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		5	69	0	0	0	1	0	5	69				
ZNF608	57507	broad.mit.edu	37	5	123983485	123983485	+	Silent	SNP	C	C	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr5:123983485C>A	ENST00000306315.5	-	4	3027	c.2592G>T	c.(2590-2592)ctG>ctT	p.L864L	ZNF608_ENST00000504926.1_Silent_p.L437L	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	864							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GTCCATTTGCCAGCCCTTCAT	0.502																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(2590-2592)ctG>ctT		zinc finger protein 608							83.0	86.0	85.0					5																	123983485		2203	4300	6503	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:123983485C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2592G>T	5.37:g.123983485C>A						ZNF608_ENST00000504926.1_Silent_p.L437L	p.L864L	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3027	-		all_cancers(142;0.186)|Prostate(80;0.081)	864					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.2592G>T	CCDS34219.1																																																																																				0.502	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		16	98	1	0	2.23348e-06	1	2.43653e-06	16	98				
ZNF551	90233	broad.mit.edu	37	19	58198984	58198984	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:58198984T>A	ENST00000282296.5	+	3	1526	c.1341T>A	c.(1339-1341)taT>taA	p.Y447*	ZNF551_ENST00000356715.4_Nonsense_Mutation_p.Y431*|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGACCTTATGAATGCAGAG	0.433																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1339-1341)taT>taA		zinc finger protein 551							79.0	83.0	82.0					19																	58198984		2203	4300	6503	SO:0001587	stop_gained	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198984T>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1341T>A	19.37:g.58198984T>A	ENSP00000282296:p.Tyr447*					AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Nonsense_Mutation_p.Y431*	p.Y447*	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1526	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	447					B4DU22|P17034|Q8N246|Q9BRY1	Nonsense_Mutation	SNP	ENST00000282296.5	37	c.1341T>A	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.406173|4.406173	0.83230|0.83230	.|.	.|.	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.2|2.2	-0.124|-0.124	0.13523|0.13523	.|.	0.576434|.	0.14133|.	U|.	0.339242|.	T|.	0.25082|.	0.0609|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27088|.	-1.0084|.	6|.	0.02654|0.02654	T|T	1|1	.|.	6.5265|6.5265	0.22305|0.22305	0.0:0.3921:0.0:0.6079|0.0:0.3921:0.0:0.6079	.|.	.|.	.|.	.|.	L|X	141|447;431;230	.|.	ENSP00000437781:I141L|ENSP00000282296:Y431X	I|Y	-|+	1|3	0|2	AC004017.1|ZNF551	62890796|62890796	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.024000|0.024000	0.10985|0.10985	-0.447000|-0.447000	0.06828|0.06828	-0.268000|-0.268000	0.09312|0.09312	-0.421000|-0.421000	0.06004|0.06004	ATA|TAT		0.433	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		34	89	0	0	0	1	0	34	89				
ERBB2IP	55914	broad.mit.edu	37	5	65350591	65350591	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr5:65350591A>T	ENST00000284037.5	+	21	3834	c.3445A>T	c.(3445-3447)Att>Ttt	p.I1149F	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.I1145F|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.I1149F	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1149					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TCGACCCTCTATTAATGAAAT	0.433																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3445-3447)Att>Ttt		erbb2 interacting protein							61.0	57.0	59.0					5																	65350591		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65350591A>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3445A>T	5.37:g.65350591A>T	ENSP00000284037:p.Ile1149Phe					ERBB2IP_ENST00000380936.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.I1145F|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.I1149F	p.I1149F	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3834	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1149					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.3445A>T	CCDS58953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.928|4.928	0.172390|0.172390	0.09391|0.09391	.|.	.|.	ENSG00000112851|ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515|ENST00000511671	T;T;T;T;T;T;T;T;T|.	0.37915|.	1.34;1.31;1.31;1.54;1.17;1.41;1.31;1.38;1.17|.	5.57|5.57	1.19|1.19	0.21007|0.21007	.|.	0.428735|.	0.25642|.	N|.	0.029271|.	T|T	0.19248|0.19248	0.0462|0.0462	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B|.	0.28400|.	0.068;0.041;0.023;0.023;0.026;0.21;0.068|.	B;B;B;B;B;B;B|.	0.34301|.	0.082;0.059;0.049;0.032;0.029;0.082;0.179|.	T|T	0.26985|0.26985	-1.0087|-1.0087	10|5	0.59425|.	D|.	0.04|.	.|.	5.8317|5.8317	0.18584|0.18584	0.3942:0.1276:0.4781:0.0|0.3942:0.1276:0.4781:0.0	.|.	1149;1149;1149;1145;1149;1149;1149|.	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2|.	.;.;.;.;LAP2_HUMAN;.;.|.	F|F	1149;1149;1149;1149;1149;1149;1145;1149;1149|44	ENSP00000284037:I1149F;ENSP00000370330:I1149F;ENSP00000370326:I1149F;ENSP00000370323:I1149F;ENSP00000370322:I1149F;ENSP00000370325:I1149F;ENSP00000422766:I1145F;ENSP00000426632:I1149F;ENSP00000422015:I1149F|.	ENSP00000284037:I1149F|.	I|Y	+|+	1|2	0|0	ERBB2IP|ERBB2IP	65386347|65386347	0.356000|0.356000	0.24930|0.24930	0.981000|0.981000	0.43875|0.43875	0.992000|0.992000	0.81027|0.81027	0.687000|0.687000	0.25407|0.25407	-0.073000|-0.073000	0.12842|0.12842	-0.137000|-0.137000	0.14449|0.14449	ATT|TAT		0.433	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		11	55	0	0	0	1	0	11	55				
EVA1A	84141	broad.mit.edu	37	2	75720529	75720529	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:75720529G>A	ENST00000233712.1	-	4	729	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	EVA1A_ENST00000410010.1_Missense_Mutation_p.R86W|EVA1A_ENST00000410071.1_Missense_Mutation_p.R98W|EVA1A_ENST00000393913.3_Missense_Mutation_p.R98W|EVA1A_ENST00000410113.1_Missense_Mutation_p.R98W|EVA1A_ENST00000490746.1_Intron	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	98					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											CGGTGTCTCCGCACGGAGAGA	0.637																																						ENST00000233712.1																			0											c.(292-294)Cgg>Tgg		eva-1 homolog A (C. elegans)							57.0	52.0	54.0					2																	75720529		2203	4300	6503	SO:0001583	missense	84141							g.chr2:75720529G>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.292C>T	2.37:g.75720529G>A	ENSP00000233712:p.Arg98Trp					EVA1A_ENST00000410113.1_Missense_Mutation_p.R98W|EVA1A_ENST00000393913.3_Missense_Mutation_p.R98W|EVA1A_ENST00000410071.1_Missense_Mutation_p.R98W|EVA1A_ENST00000410010.1_Missense_Mutation_p.R86W|EVA1A_ENST00000490746.1_Intron	p.R98W	NM_032181.2	NP_115557.1					4	729	-								D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	c.292C>T	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.522842	0.44866	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.05	2.03	0.26663	.	0.051717	0.85682	D	0.000000	T	0.63117	0.2484	M	0.79123	2.44	0.52501	D	0.999959	D	0.89917	1.0	D	0.91635	0.999	T	0.66184	-0.5987	10	0.72032	D	0.01	3.3052	13.2112	0.59825	0.0:0.0:0.5434:0.4566	.	98	Q9H8M9	F176A_HUMAN	W	98;98;98;86;98;98;98	ENSP00000377490:R98W;ENSP00000233712:R98W;ENSP00000386435:R98W;ENSP00000386835:R86W;ENSP00000386930:R98W;ENSP00000398249:R98W;ENSP00000388105:R98W	ENSP00000233712:R98W	R	-	1	2	FAM176A	75574037	1.000000	0.71417	0.693000	0.30195	0.304000	0.27724	2.573000	0.46007	0.265000	0.21872	-0.181000	0.13052	CGG		0.637	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		19	46	0	0	0	1	0	19	46				
OR10S1	219873	broad.mit.edu	37	11	123847864	123847864	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr11:123847864G>A	ENST00000531945.1	-	1	624	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R179C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		TAGAGCAGGCGGAAGGTGAGG	0.552																																						ENST00000531945.1																			1	Substitution - Missense(1)	p.R179C(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(535-537)Cgc>Tgc		olfactory receptor, family 10, subfamily S, member 1							103.0	89.0	93.0					11																	123847864		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847864G>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.535C>T	11.37:g.123847864G>A	ENSP00000431914:p.Arg179Cys						p.R179C	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	624	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	179					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.535C>T	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307406	0.23821	.	.	ENSG00000196248	ENST00000531945	T	0.00188	8.59	4.89	0.961	0.19638	GPCR, rhodopsin-like superfamily (1);	0.657762	0.12864	N	0.432873	T	0.00210	0.0006	L	0.60012	1.86	0.21386	N	0.999708	B	0.20261	0.043	B	0.14578	0.011	T	0.28427	-1.0044	10	0.56958	D	0.05	0.5192	9.555	0.39332	0.3687:0.0:0.6313:0.0	.	179	Q8NGN2	O10S1_HUMAN	C	179	ENSP00000431914:R179C	ENSP00000431914:R179C	R	-	1	0	OR10S1	123353074	0.000000	0.05858	0.266000	0.24541	0.844000	0.47949	0.602000	0.24134	0.042000	0.15717	-0.257000	0.10917	CGC		0.552	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		17	33	0	0	0	1	0	17	33				
ARID2	196528	broad.mit.edu	37	12	46245425	46245425	+	Silent	SNP	C	C	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr12:46245425C>A	ENST00000334344.6	+	15	3691	c.3519C>A	c.(3517-3519)acC>acA	p.T1173T	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.T1024T|ARID2_ENST00000444670.1_Silent_p.T783T|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1173					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACCAGGTAACCATAACAGTTG	0.468			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3517-3519)acC>acA		AT rich interactive domain 2 (ARID, RFX-like)							90.0	88.0	89.0					12																	46245425		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245425C>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3519C>A	12.37:g.46245425C>A						ARID2_ENST00000444670.1_Silent_p.T783T|ARID2_ENST00000422737.1_Silent_p.T1024T|ARID2_ENST00000479608.1_3'UTR	p.T1173T	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3691	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1173					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.3519C>A	CCDS31783.1																																																																																				0.468	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		7	90	1	0	1.06961e-07	1	1.18846e-07	7	90				
KIAA1407	57577	broad.mit.edu	37	3	113723568	113723568	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:113723568C>T	ENST00000295878.3	-	11	2040	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E463K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	632										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTCTGCCTTCAGTCCCAGGG	0.453																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1894-1896)Gaa>Aaa		KIAA1407							145.0	141.0	143.0					3																	113723568		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113723568C>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1894G>A	3.37:g.113723568C>T	ENSP00000295878:p.Glu632Lys					KIAA1407_ENST00000545063.1_Missense_Mutation_p.E463K	p.E632K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			11	2040	-			632					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1894G>A	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986290	0.35036	.	.	ENSG00000163617	ENST00000295878;ENST00000545063	T;T	0.46063	1.45;0.88	5.39	0.32	0.15878	.	1.190300	0.05560	N	0.569047	T	0.17831	0.0428	N	0.03608	-0.345	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.11329	0.006;0.003	T	0.19910	-1.0291	10	0.12103	T	0.63	.	4.5317	0.12008	0.0:0.4785:0.1546:0.3669	.	508;632	B4DIZ9;Q8NCU4	.;K1407_HUMAN	K	632;463	ENSP00000295878:E632K;ENSP00000446381:E463K	ENSP00000295878:E632K	E	-	1	0	KIAA1407	115206258	0.002000	0.14202	0.001000	0.08648	0.883000	0.51084	-0.045000	0.12003	-0.124000	0.11724	0.650000	0.86243	GAA		0.453	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		31	175	0	0	0	1	0	31	175				
MTFR1	9650	broad.mit.edu	37	8	66619352	66619352	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr8:66619352G>C	ENST00000262146.4	+	6	751	c.625G>C	c.(625-627)Gat>Cat	p.D209H	MTFR1_ENST00000458689.2_Missense_Mutation_p.D176H|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	209	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			ATCTGCTGTTGATCTGATTAA	0.483																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(625-627)Gat>Cat		mitochondrial fission regulator 1							60.0	61.0	61.0					8																	66619352		2203	4300	6503	SO:0001583	missense	9650					mitochondrion|plasma membrane		g.chr8:66619352G>C		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.625G>C	8.37:g.66619352G>C	ENSP00000262146:p.Asp209His					MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.D176H	p.D209H	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		6	751	+			209					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	37	c.625G>C	CCDS6182.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.42|19.42|19.42	3.824117|3.824117|3.824117	0.71143|0.71143|0.71143	.|.|.	.|.|.	ENSG00000066855|ENSG00000066855|ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689;ENST00000521247|ENST00000518800|ENST00000527155	T;T;T|.|.	0.47177|.|.	0.85;0.85;0.85|.|.	5.49|5.49|5.49	5.49|5.49|5.49	0.81192|0.81192|0.81192	.|.|.	0.086704|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.82254|0.82254|.	0.4997|0.4997|.	M|M|M	0.83692|0.83692|0.83692	2.655|2.655|2.655	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.76494|.|.	0.997;0.983;0.999;0.999|.|.	D;D;D;D|.|.	0.74348|.|.	0.975;0.948;0.914;0.983|.|.	T|T|.	0.83225|0.83225|.	-0.0066|-0.0066|.	10|5|.	0.51188|.|.	T|.|.	0.08|.|.	-3.465|-3.465|-3.465	18.9777|18.9777|18.9777	0.92745|0.92745|0.92745	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	209;193;176;209|.|.	B4E3G8;E5RJS5;E7EP84;Q15390|.|.	.;.;.;MTFR1_HUMAN|.|.	H|F|S	193;209;176;25|166|22	ENSP00000262146:D209H;ENSP00000391502:D176H;ENSP00000429253:D25H|.|.	ENSP00000262146:D209H|.|.	D|L|X	+|+|+	1|3|2	0|2|2	MTFR1|MTFR1|MTFR1	66781906|66781906|66781906	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.976000|0.976000|0.976000	0.42696|0.42696|0.42696	0.400000|0.400000|0.400000	0.30750|0.30750|0.30750	8.433000|8.433000|8.433000	0.90291|0.90291|0.90291	2.568000|2.568000|2.568000	0.86640|0.86640|0.86640	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAT|TTG|TGA		0.483	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		19	100	0	0	0	1	0	19	100				
MAP3K9	4293	broad.mit.edu	37	14	71205062	71205062	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr14:71205062C>G	ENST00000554752.2	-	8	1743	c.1744G>C	c.(1744-1746)Gag>Cag	p.E582Q	MAP3K9_ENST00000555993.2_Missense_Mutation_p.E582Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E582Q|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E324Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E319Q	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	582					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCCCCTTCCTCCTTTGGGACG	0.572																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1744-1746)Gag>Cag		mitogen-activated protein kinase kinase kinase 9							90.0	88.0	89.0					14																	71205062		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71205062C>G	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1744G>C	14.37:g.71205062C>G	ENSP00000451612:p.Glu582Gln					MAP3K9_ENST00000553414.1_Missense_Mutation_p.E324Q|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E582Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E319Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E582Q	p.E582Q			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	8	1743	-			582					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1744G>C		.	.	.	.	.	.	.	.	.	.	C	11.83	1.755509	0.31046	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.97	5.97	0.96955	.	0.101690	0.64402	D	0.000002	T	0.22975	0.0555	N	0.04508	-0.205	0.40966	D	0.98466	D;D;D;P	0.69078	0.993;0.996;0.997;0.862	D;D;D;P	0.65573	0.936;0.911;0.936;0.72	T	0.38650	-0.9651	10	0.52906	T	0.07	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	319;582;582;324	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	Q	582;582;324;582;319;310	ENSP00000451612:E582Q;ENSP00000451038:E324Q;ENSP00000370649:E582Q;ENSP00000451921:E319Q	ENSP00000005198:E582Q	E	-	1	0	MAP3K9	70274815	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	3.189000	0.50965	2.837000	0.97791	0.655000	0.94253	GAG		0.572	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			17	85	0	0	0	1	0	17	85				
RAPGEF1	2889	broad.mit.edu	37	9	134526228	134526228	+	Missense_Mutation	SNP	G	G	A	rs548185079		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr9:134526228G>A	ENST00000372189.3	-	2	242	c.119C>T	c.(118-120)tCc>tTc	p.S40F	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S58F|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.S57F	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	40					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AATCTTTACGGACACCTCAGC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		20129	0.0		0.0	False		,,,				2504	0.001					ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(169-171)tCc>tTc		Rap guanine nucleotide exchange factor (GEF) 1							227.0	221.0	223.0					9																	134526228		1947	4130	6077	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134526228G>A	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.119C>T	9.37:g.134526228G>A	ENSP00000361263:p.Ser40Phe					RAPGEF1_ENST00000372189.3_Missense_Mutation_p.S40F|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S58F	p.S57F			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	2	413	-		Myeloproliferative disorder(178;0.204)	40					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.170C>T	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955122	0.53293	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000357686;ENST00000438647;ENST00000427994	T;T;T;T	0.37915	1.75;1.75;1.76;1.17	5.61	5.61	0.85477	.	0.493017	0.22638	N	0.057500	T	0.35422	0.0931	N	0.22421	0.69	0.34690	D	0.72563	B;B;P	0.35077	0.351;0.351;0.483	B;B;B	0.41332	0.193;0.129;0.354	T	0.50583	-0.8811	10	0.72032	D	0.01	.	18.6264	0.91340	0.0:0.0:1.0:0.0	.	57;40;58	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	F	40;57;40;58;58;57;57;58	ENSP00000361269:S57F;ENSP00000361263:S40F;ENSP00000361264:S58F;ENSP00000410640:S57F	ENSP00000266110:S40F	S	-	2	0	RAPGEF1	133516049	1.000000	0.71417	0.989000	0.46669	0.804000	0.45430	5.428000	0.66489	2.631000	0.89168	0.655000	0.94253	TCC		0.458	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		14	150	0	0	0	1	0	14	150				
ZNF335	63925	broad.mit.edu	37	20	44581078	44581078	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr20:44581078C>T	ENST00000322927.2	-	20	2997	c.2897G>A	c.(2896-2898)gGa>gAa	p.G966E	ZNF335_ENST00000426788.1_Missense_Mutation_p.G811E	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	966					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TCTGGGCAGTCCCCCACACTG	0.632																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2896-2898)gGa>gAa		zinc finger protein 335							38.0	44.0	42.0					20																	44581078		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44581078C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2897G>A	20.37:g.44581078C>T	ENSP00000325326:p.Gly966Glu					ZNF335_ENST00000426788.1_Missense_Mutation_p.G811E	p.G966E	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			20	2997	-		Myeloproliferative disorder(115;0.0122)	966					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.2897G>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026213	0.35701	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.08102	3.26;3.13	4.66	4.66	0.58398	.	0.694331	0.14364	N	0.324225	T	0.07143	0.0181	N	0.19112	0.55	0.19775	N	0.999958	B;B	0.13145	0.003;0.007	B;B	0.12837	0.004;0.008	T	0.27365	-1.0076	10	0.30854	T	0.27	-28.8388	14.8545	0.70326	0.0:1.0:0.0:0.0	.	811;966	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	E	966;743;811	ENSP00000325326:G966E;ENSP00000397098:G811E	ENSP00000243961:G743E	G	-	2	0	ZNF335	44014485	0.932000	0.31603	0.990000	0.47175	0.908000	0.53690	2.541000	0.45735	2.401000	0.81631	0.561000	0.74099	GGA		0.632	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		18	58	0	0	0	1	0	18	58				
HIF1AN	55662	broad.mit.edu	37	10	102295856	102295856	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr10:102295856G>C	ENST00000299163.6	+	1	241	c.141G>C	c.(139-141)caG>caC	p.Q47H		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	47	Interaction with VHL.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GTCTGAGTCAGAGCGACCCCC	0.642											OREG0020442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000299163.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10						c.(139-141)caG>caC		hypoxia inducible factor 1, alpha subunit inhibitor							14.0	17.0	16.0					10																	102295856		2182	4266	6448	SO:0001583	missense	55662				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding	g.chr10:102295856G>C	AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.141G>C	10.37:g.102295856G>C	ENSP00000299163:p.Gln47His		OREG0020442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1365		p.Q47H	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)	1	241	+		Colorectal(252;0.234)	47			Interaction with VHL.		D3DR69|Q5W147|Q969Q7|Q9NPV5	Missense_Mutation	SNP	ENST00000299163.6	37	c.141G>C	CCDS7498.1	.	.	.	.	.	.	.	.	.	.	G	6.669	0.491976	0.12702	.	.	ENSG00000166135	ENST00000299163;ENST00000442724	T	0.70399	-0.48	5.08	2.18	0.27775	.	0.211874	0.48286	D	0.000185	T	0.28466	0.0704	N	0.00347	-1.61	0.31909	N	0.614904	B	0.02656	0.0	B	0.01281	0.0	T	0.26395	-1.0104	10	0.14656	T	0.56	-36.3937	5.9559	0.19273	0.2533:0.2396:0.5071:0.0	.	47	Q9NWT6	HIF1N_HUMAN	H	47;80	ENSP00000299163:Q47H	ENSP00000299163:Q47H	Q	+	3	2	HIF1AN	102285846	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	1.710000	0.37920	0.748000	0.32831	-0.142000	0.14014	CAG		0.642	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5	NM_017902		9	14	0	0	0	1	0	9	14				
RIC1	57589	broad.mit.edu	37	9	5769097	5769097	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr9:5769097G>A	ENST00000414202.2	+	22	3456	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	KIAA1432_ENST00000449720.2_Missense_Mutation_p.E973K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E1089K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E1010K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1010K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCTGGGCTTTGAACTAATTAG	0.498																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(3265-3267)Gaa>Aaa		KIAA1432							76.0	85.0	82.0					9																	5769097		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5769097G>A																												ENST00000414202.2:c.3265G>A	9.37:g.5769097G>A	ENSP00000416696:p.Glu1089Lys					KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1010K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E1089K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E973K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E1010K	p.E1089K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	22	3456	+		Acute lymphoblastic leukemia(23;0.154)	1089						Missense_Mutation	SNP	ENST00000414202.2	37	c.3265G>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694098	0.88735	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.65975	2.015	0.80722	D	1	P;B;P;B	0.50156	0.915;0.349;0.932;0.42	B;B;P;B	0.45167	0.392;0.091;0.472;0.142	T	0.62937	-0.6748	9	0.37606	T	0.19	-21.4408	20.0953	0.97838	0.0:0.0:1.0:0.0	.	973;1010;1089;1089	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	K	1089;1089;1010;1010;973	.	ENSP00000251879:E1089K	E	+	1	0	KIAA1432	5759097	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.476000	0.97823	2.767000	0.95098	0.655000	0.94253	GAA		0.498	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			18	178	0	0	0	1	0	18	178				
IARS	3376	broad.mit.edu	37	9	95027389	95027389	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr9:95027389T>G	ENST00000375643.3	-	16	1788	c.1522A>C	c.(1522-1524)Att>Ctt	p.I508L	IARS_ENST00000443024.2_Missense_Mutation_p.I508L|IARS_ENST00000447699.2_Missense_Mutation_p.I398L|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	508					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CGTGAAGGAATGGTCAGGTGG	0.433																																						ENST00000375643.3																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1522-1524)Att>Ctt		isoleucyl-tRNA synthetase	L-Isoleucine(DB00167)						65.0	56.0	59.0					9																	95027389		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95027389T>G	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1522A>C	9.37:g.95027389T>G	ENSP00000364794:p.Ile508Leu					IARS_ENST00000443024.2_Missense_Mutation_p.I508L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.I398L	p.I508L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN			16	1788	-			508					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.1522A>C	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.746638	0.89663	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660	T;T;T	0.20598	2.06;2.06;2.06	5.4	5.4	0.78164	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	L	0.41356	1.27	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73380	0.98;0.98	T	0.15896	-1.0421	10	0.87932	D	0	-21.0687	15.0814	0.72117	0.0:0.0:0.0:1.0	.	508;353	P41252;Q6P0M4	SYIC_HUMAN;.	L	508;508;398;508	ENSP00000364794:I508L;ENSP00000406448:I508L;ENSP00000415020:I398L	ENSP00000364794:I508L	I	-	1	0	IARS	94067210	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.995000	0.88328	2.053000	0.61076	0.402000	0.26972	ATT		0.433	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		6	23	0	0	0	1	0	6	23				
SEPT8	23176	broad.mit.edu	37	5	132096852	132096852	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr5:132096852C>G	ENST00000378719.2	-	8	1305	c.1068G>C	c.(1066-1068)gaG>gaC	p.E356D	SEPT8_ENST00000458488.2_Missense_Mutation_p.E356D|SEPT8_ENST00000378721.4_Missense_Mutation_p.E354D|SEPT8_ENST00000296873.7_Missense_Mutation_p.E356D|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378699.2_Missense_Mutation_p.E296D|SEPT8_ENST00000448933.1_Missense_Mutation_p.E296D|SEPT8_ENST00000378706.1_Missense_Mutation_p.E356D|SEPT8_ENST00000378701.1_Missense_Mutation_p.E354D	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	356					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGCTCCAGCTCTGTCTCCT	0.562																																						ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(1066-1068)gaG>gaC		septin 8							227.0	224.0	225.0					5																	132096852		2071	4209	6280	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132096852C>G	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.1068G>C	5.37:g.132096852C>G	ENSP00000367991:p.Glu356Asp					SEPT8_ENST00000378719.2_Missense_Mutation_p.E356D|SEPT8_ENST00000378721.4_Missense_Mutation_p.E354D|SEPT8_ENST00000458488.2_Missense_Mutation_p.E356D|SEPT8_ENST00000448933.1_Missense_Mutation_p.E296D|SEPT8_ENST00000378699.2_Missense_Mutation_p.E296D|SEPT8_ENST00000378701.1_Missense_Mutation_p.E354D|SEPT8_ENST00000378706.1_Missense_Mutation_p.E356D	p.E356D	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1351	-		all_cancers(142;0.0751)|Breast(839;0.198)	356					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.1068G>C	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690346	0.68271	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.38	4.52	0.55395	.	0.053662	0.64402	D	0.000001	D	0.89424	0.6711	M	0.77712	2.385	0.53688	D	0.999975	D;D;D;D	0.76494	0.998;0.998;0.999;0.999	D;D;D;D	0.77557	0.986;0.986;0.983;0.99	D	0.89494	0.3759	10	0.87932	D	0	.	8.7798	0.34785	0.0:0.7742:0.0:0.2258	.	354;354;356;356	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	D	356;354;356;296;356;296;354;356	ENSP00000367991:E356D;ENSP00000367993:E354D;ENSP00000296873:E356D;ENSP00000399840:E296D;ENSP00000367978:E356D;ENSP00000367971:E296D;ENSP00000367973:E354D;ENSP00000394766:E356D	ENSP00000296873:E356D	E	-	3	2	SEPT8	132124751	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.166000	0.31834	1.276000	0.44395	0.561000	0.74099	GAG		0.562	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		5	42	0	0	0	1	0	5	42				
BAI3	577	broad.mit.edu	37	6	70082307	70082307	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr6:70082307T>A	ENST00000370598.1	+	30	5070	c.4249T>A	c.(4249-4251)Tca>Aca	p.S1417T	BAI3_ENST00000238918.8_Missense_Mutation_p.S623T|BAI3_ENST00000546190.1_Missense_Mutation_p.S381T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1417					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGAAGAAAATCACGATATTC	0.214																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(4249-4251)Tca>Aca		brain-specific angiogenesis inhibitor 3							17.0	19.0	19.0					6																	70082307		2112	4146	6258	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70082307T>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4249T>A	6.37:g.70082307T>A	ENSP00000359630:p.Ser1417Thr					BAI3_ENST00000238918.8_Missense_Mutation_p.S623T|BAI3_ENST00000546190.1_Missense_Mutation_p.S381T	p.S1417T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			30	5070	+		all_lung(197;0.212)	1417					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4249T>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528089	0.64860	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.06768	3.26;3.26;3.26	5.97	5.97	0.96955	.	0.142110	0.49916	D	0.000125	T	0.18383	0.0441	M	0.74647	2.275	0.46725	D	0.999171	P;P	0.52842	0.956;0.801	D;B	0.65010	0.931;0.275	T	0.00388	-1.1771	10	0.49607	T	0.09	.	13.984	0.64321	0.0:0.0:0.0:1.0	.	623;1417	B7Z356;O60242	.;BAI3_HUMAN	T	1417;623;381	ENSP00000359630:S1417T;ENSP00000238918:S623T;ENSP00000441821:S381T	ENSP00000238918:S623T	S	+	1	0	BAI3	70139028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.630000	0.67805	2.288000	0.76882	0.533000	0.62120	TCA		0.214	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			7	23	0	0	0	1	0	7	23				
WDR44	54521	broad.mit.edu	37	X	117538393	117538393	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chrX:117538393G>C	ENST00000254029.3	+	9	1762	c.1367G>C	c.(1366-1368)aGt>aCt	p.S456T	WDR44_ENST00000371825.3_Missense_Mutation_p.S456T|WDR44_ENST00000371822.5_Missense_Mutation_p.S431T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	456						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGTTAAAAGTGTTAGAGAT	0.318																																						ENST00000254029.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1366-1368)aGt>aCt		WD repeat domain 44							65.0	59.0	61.0					X																	117538393		2203	4297	6500	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117538393G>C	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1367G>C	X.37:g.117538393G>C	ENSP00000254029:p.Ser456Thr					WDR44_ENST00000371822.5_Missense_Mutation_p.S431T|WDR44_ENST00000371825.3_Missense_Mutation_p.S456T	p.S456T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN			9	1762	+			456					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.1367G>C	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.124117|4.124117	0.77436|0.77436	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825	T|T;T;T	0.69926|0.76186	-0.44|-1.0;-0.41;-0.28	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81640|0.81640	0.4865|0.4865	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999998|0.999998	.|P;B;D;P	.|0.71674	.|0.544;0.397;0.998;0.454	.|B;B;D;B	.|0.65987	.|0.343;0.135;0.94;0.168	T|T	0.82746|0.82746	-0.0305|-0.0305	7|10	0.59425|0.54805	D|T	0.04|0.06	-11.2643|-11.2643	18.1494|18.1494	0.89669|0.89669	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|431;456;456;456	.|F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.|.;.;.;WDR44_HUMAN	N|T	355|431;456;456	ENSP00000360914:K355N|ENSP00000360887:S431T;ENSP00000254029:S456T;ENSP00000360890:S456T	ENSP00000360914:K355N|ENSP00000254029:S456T	K|S	+|+	3|2	2|0	WDR44|WDR44	117422421|117422421	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.414000|9.414000	0.97362|0.97362	2.223000|2.223000	0.72356|0.72356	0.529000|0.529000	0.55759|0.55759	AAG|AGT		0.318	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		9	23	0	0	0	1	0	9	23				
OR4M1	441670	broad.mit.edu	37	14	20249099	20249099	+	Silent	SNP	C	C	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr14:20249099C>A	ENST00000315957.4	+	1	699	c.618C>A	c.(616-618)atC>atA	p.I206I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTCTGATCTCTGTGGTGT	0.473																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(616-618)atC>atA		olfactory receptor, family 4, subfamily M, member 1							513.0	419.0	451.0					14																	20249099		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249099C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.618C>A	14.37:g.20249099C>A							p.I206I	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	699	+	all_cancers(95;0.00108)		206					B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.618C>A	CCDS32021.1																																																																																				0.473	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			21	333	1	0	1.50039e-11	1	1.69856e-11	21	333				
SLC38A11	151258	broad.mit.edu	37	2	165796058	165796058	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:165796058C>G	ENST00000409149.3	-	5	562	c.271G>C	c.(271-273)Gaa>Caa	p.E91Q	SLC38A11_ENST00000409662.1_Missense_Mutation_p.E91Q|SLC38A11_ENST00000303735.4_Missense_Mutation_p.E69Q|SLC38A11_ENST00000409058.1_Missense_Mutation_p.E122Q|SLC38A11_ENST00000493887.1_5'Flank	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	91					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						AACACGTTTTCAGGATCAACT	0.328																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(205-207)Gaa>Caa		solute carrier family 38, member 11							92.0	87.0	89.0					2																	165796058		2203	4300	6503	SO:0001583	missense	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165796058C>G		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.271G>C	2.37:g.165796058C>G	ENSP00000386272:p.Glu91Gln					SLC38A11_ENST00000409149.3_Missense_Mutation_p.E91Q|SLC38A11_ENST00000409058.1_Missense_Mutation_p.E122Q|SLC38A11_ENST00000409662.1_Missense_Mutation_p.E91Q	p.E69Q	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			4	535	-			91					B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	c.205G>C	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	C	7.883	0.730560	0.15507	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.18657	4.39;2.2;2.2;2.2	5.87	4.06	0.47325	.	1.052430	0.07506	N	0.908066	T	0.15046	0.0363	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.13145	0.007;0.003	B;B	0.13407	0.009;0.005	T	0.36768	-0.9734	10	0.14656	T	0.56	-0.2994	9.5471	0.39288	0.0:0.781:0.1421:0.0768	.	91;69	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	Q	69;91;122;91	ENSP00000306178:E69Q;ENSP00000386272:E91Q;ENSP00000387345:E122Q;ENSP00000386774:E91Q	ENSP00000306178:E69Q	E	-	1	0	SLC38A11	165504304	0.824000	0.29247	0.046000	0.18839	0.283000	0.27025	3.236000	0.51336	0.794000	0.33899	-0.140000	0.14226	GAA		0.328	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		6	60	0	0	0	1	0	6	60				
ANKLE2	23141	broad.mit.edu	37	12	133327347	133327347	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr12:133327347T>A	ENST00000357997.5	-	3	818	c.729A>T	c.(727-729)agA>agT	p.R243S	ANKLE2_ENST00000539605.1_Missense_Mutation_p.R181S|ANKLE2_ENST00000337516.5_Missense_Mutation_p.R243S	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	243					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CAGCGTCTTCTCTGGTAGAAA	0.388																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(541-543)agA>agT		ankyrin repeat and LEM domain containing 2							145.0	139.0	140.0					12																	133327347		1829	4090	5919	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327347T>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.729A>T	12.37:g.133327347T>A	ENSP00000350686:p.Arg243Ser					ANKLE2_ENST00000337516.5_Missense_Mutation_p.R243S|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R243S	p.R181S			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	2	7227	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	243					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.543A>T	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	t	19.52	3.843214	0.71488	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T	0.36340	1.64;1.58;1.26	5.72	4.59	0.56863	Ribonuclease H1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.82056	2.57	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	T	0.59322	-0.7476	10	0.51188	T	0.08	-5.6866	7.4519	0.27244	0.0:0.2126:0.0:0.7874	.	243;243	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	S	181;243;243;13	ENSP00000446268:R181S;ENSP00000350686:R243S;ENSP00000337651:R243S	ENSP00000337651:R243S	R	-	3	2	ANKLE2	131837420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.129000	0.31381	2.184000	0.69523	0.528000	0.53228	AGA		0.388	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			33	88	0	0	0	1	0	33	88				
VNN1	8876	broad.mit.edu	37	6	133014383	133014383	+	Silent	SNP	G	G	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr6:133014383G>T	ENST00000367928.4	-	4	619	c.606C>A	c.(604-606)acC>acA	p.T202T		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	202	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AACTTCCAAAGGTGGTATTGA	0.383																																						ENST00000367928.4																			0				NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(604-606)acC>acA		vanin 1							85.0	81.0	83.0					6																	133014383		2203	4300	6503	SO:0001819	synonymous_variant	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133014383G>T	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.606C>A	6.37:g.133014383G>T							p.T202T	NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	4	619	-	Breast(56;0.135)		202			CN hydrolase.		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	ENST00000367928.4	37	c.606C>A	CCDS5159.1																																																																																				0.383	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			5	79	1	0	3.59834e-05	1	3.85536e-05	5	79				
GBP7	388646	broad.mit.edu	37	1	89607325	89607325	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:89607325C>T	ENST00000294671.2	-	9	1510	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	458						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TGGAGGACCTCGTCTGCCTGA	0.488																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1372-1374)Gag>Aag		guanylate binding protein 7							105.0	97.0	100.0					1																	89607325		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89607325C>T	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1372G>A	1.37:g.89607325C>T	ENSP00000294671:p.Glu458Lys						p.E458K	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	9	1510	-		Lung NSC(277;0.0908)	458						Missense_Mutation	SNP	ENST00000294671.2	37	c.1372G>A	CCDS720.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798140	0.50208	.	.	ENSG00000213512	ENST00000294671	T	0.02421	4.3	4.14	3.21	0.36854	Guanylate-binding protein, C-terminal (3);	0.128837	0.49916	D	0.000133	T	0.01627	0.0052	M	0.69185	2.1	0.30866	N	0.733003	B	0.28082	0.2	B	0.20577	0.03	T	0.32295	-0.9912	10	0.54805	T	0.06	.	11.5608	0.50776	0.0:0.8174:0.1826:0.0	.	458	Q8N8V2	GBP7_HUMAN	K	458	ENSP00000294671:E458K	ENSP00000294671:E458K	E	-	1	0	GBP7	89379913	0.006000	0.16342	0.192000	0.23308	0.438000	0.31896	0.380000	0.20602	0.944000	0.37579	0.585000	0.79938	GAG		0.488	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		10	61	0	0	0	1	0	10	61				
TMEM39A	55254	broad.mit.edu	37	3	119153706	119153706	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:119153706G>C	ENST00000319172.5	-	8	1556	c.1136C>G	c.(1135-1137)cCt>cGt	p.P379R		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	379						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CACCCCTTGAGGCCATATTGT	0.453																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(1135-1137)cCt>cGt		transmembrane protein 39A							88.0	82.0	84.0					3																	119153706		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119153706G>C	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.1136C>G	3.37:g.119153706G>C	ENSP00000326063:p.Pro379Arg						p.P379R	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	8	1556	-			379					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.1136C>G	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869194	0.72065	.	.	ENSG00000176142	ENST00000319172	T	0.49139	0.79	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.70159	0.3192	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74469	-0.3655	10	0.87932	D	0	-10.1874	17.3349	0.87277	0.0:0.0:1.0:0.0	.	379	Q9NV64	TM39A_HUMAN	R	379	ENSP00000326063:P379R	ENSP00000326063:P379R	P	-	2	0	TMEM39A	120636396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.208000	0.95075	2.636000	0.89361	0.655000	0.94253	CCT		0.453	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		22	101	0	0	0	1	0	22	101				
RNF213	57674	broad.mit.edu	37	17	78293223	78293223	+	Intron	SNP	A	A	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr17:78293223A>T	ENST00000582970.1	+	17	3167				RNF213_ENST00000319921.4_Silent_p.S1045S|CTD-2047H16.2_ENST00000576808.1_RNA|RNF213_ENST00000508628.2_Intron|RNF213_ENST00000456466.1_Intron	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213						ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGCTAACTCAGAGATTGGGA	0.587																																						ENST00000319921.4																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(3133-3135)tcA>tcT		ring finger protein 213							80.0	75.0	77.0					17																	78293223		2203	4300	6503	SO:0001627	intron_variant	57674							g.chr17:78293223A>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.3024+111A>T	17.37:g.78293223A>T						RNF213_ENST00000456466.1_Intron|RNF213_ENST00000508628.2_Intron|RNF213_ENST00000582970.1_Intron	p.S1045S	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		17	3276	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.3135A>T	CCDS58606.1																																																																																				0.587	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		12	79	0	0	0	1	0	12	79				
ZNF44	51710	broad.mit.edu	37	19	12384064	12384064	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:12384064G>C	ENST00000356109.5	-	5	1268	c.1150C>G	c.(1150-1152)Cct>Gct	p.P384A	ZNF44_ENST00000355684.5_Missense_Mutation_p.P336A	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CATTTATGAGGTCCATCTCCA	0.408																																						ENST00000356109.5																			0				ovary(1)	1						c.(1150-1152)Cct>Gct		zinc finger protein 44							140.0	143.0	142.0					19																	12384064		2203	4300	6503	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12384064G>C	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1150C>G	19.37:g.12384064G>C	ENSP00000348419:p.Pro384Ala					ZNF44_ENST00000355684.5_Missense_Mutation_p.P336A	p.P384A	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1268	-		Renal(1328;0.157)	384					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.1150C>G	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985878	0.74589	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.28255	1.62;1.62;1.62	0.997	0.997	0.19851	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54447	0.1859	M	0.87269	2.87	.	.	.	D;D	0.76494	0.979;0.999	P;D	0.76071	0.886;0.987	T	0.64466	-0.6401	8	0.72032	D	0.01	.	7.5001	0.27513	0.0:0.0:1.0:0.0	.	384;336	P15621;F8W7T7	ZNF44_HUMAN;.	A	384;384;336;336	ENSP00000377008:P384A;ENSP00000348419:P384A;ENSP00000347910:P336A	ENSP00000347910:P336A	P	-	1	0	ZNF44	12245064	0.077000	0.21312	0.007000	0.13788	0.871000	0.50021	1.135000	0.31454	0.862000	0.35528	0.305000	0.20034	CCT		0.408	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		40	146	0	0	0	1	0	40	146				
PARP14	54625	broad.mit.edu	37	3	122420291	122420291	+	Missense_Mutation	SNP	G	G	A	rs76716529		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:122420291G>A	ENST00000474629.2	+	6	3156	c.2890G>A	c.(2890-2892)Gag>Aag	p.E964K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	964	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGATGTATCTGAGAAGACTGT	0.493																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(2890-2892)Gag>Aag		poly (ADP-ribose) polymerase family, member 14							73.0	74.0	73.0					3																	122420291		1946	4145	6091	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122420291G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2890G>A	3.37:g.122420291G>A	ENSP00000418194:p.Glu964Lys						p.E964K	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	3156	+			964			Macro 1.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.2890G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178477	0.78564	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.23950	1.88	5.37	3.61	0.41365	Appr-1-p processing (1);	0.256715	0.33005	N	0.005399	T	0.22742	0.0549	L	0.49455	1.56	0.39959	D	0.974634	B;P	0.46457	0.005;0.878	B;B	0.39971	0.006;0.315	T	0.03910	-1.0993	10	0.34782	T	0.22	.	11.0847	0.48080	0.1504:0.0:0.8496:0.0	.	964;964	Q460N5-4;Q460N5	.;PAR14_HUMAN	K	964;883	ENSP00000418194:E964K	ENSP00000381228:E883K	E	+	1	0	PARP14	123902981	1.000000	0.71417	0.404000	0.26397	0.005000	0.04900	4.292000	0.59031	0.858000	0.35431	-0.761000	0.03458	GAG		0.493	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		13	51	0	0	0	1	0	13	51				
ATAD2	29028	broad.mit.edu	37	8	124346146	124346146	+	Silent	SNP	C	C	T	rs147456124		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr8:124346146C>T	ENST00000287394.5	-	24	3557	c.3450G>A	c.(3448-3450)ccG>ccA	p.P1150P	ATAD2_ENST00000521903.1_Silent_p.P468P	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1150					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAGGAGTACTCGGTGTCTTTA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		18886	0.0		0.001	False		,,,				2504	0.0					ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(3448-3450)ccG>ccA		ATPase family, AAA domain containing 2		C		1,4405	2.1+/-5.4	0,1,2202	116.0	106.0	109.0		3450	-1.2	0.0	8	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATAD2	NM_014109.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1150/1391	124346146	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124346146C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3450G>A	8.37:g.124346146C>T						ATAD2_ENST00000521903.1_Silent_p.P468P	p.P1150P	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		24	3557	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1150					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	c.3450G>A	CCDS6343.1																																																																																				0.388	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		44	67	0	0	0	1	0	44	67				
MME	4311	broad.mit.edu	37	3	154802000	154802000	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:154802000C>T	ENST00000460393.1	+	2	164	c.44C>T	c.(43-45)aCt>aTt	p.T15I	MME_ENST00000382989.3_Missense_Mutation_p.T15I|MME_ENST00000360490.2_Missense_Mutation_p.T15I|MME_ENST00000462745.1_Missense_Mutation_p.T15I|MME_ENST00000493237.1_Missense_Mutation_p.T15I|MME_ENST00000492661.1_Missense_Mutation_p.T15I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	15					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GATATCAACACTCCAAAGCCA	0.393																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(43-45)aCt>aTt		membrane metallo-endopeptidase	Candoxatril(DB00616)						183.0	177.0	179.0					3																	154802000		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154802000C>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.44C>T	3.37:g.154802000C>T	ENSP00000418525:p.Thr15Ile					MME_ENST00000493237.1_Missense_Mutation_p.T15I|MME_ENST00000462745.1_Missense_Mutation_p.T15I|MME_ENST00000360490.2_Missense_Mutation_p.T15I|MME_ENST00000492661.1_Missense_Mutation_p.T15I|MME_ENST00000382989.3_Missense_Mutation_p.T15I	p.T15I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		2	164	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	15					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.44C>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829689	0.50845	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000382989;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000491026;ENST00000473730;ENST00000497890;ENST00000462837	D;D;D;D;D;D;D;D;D	0.92595	-1.61;-1.61;-1.98;-1.61;-1.61;-1.61;-3.07;-3.06;-2.65	5.27	4.35	0.52113	.	0.398213	0.27354	N	0.019741	D	0.87892	0.6292	L	0.36672	1.1	0.24208	N	0.99548	B	0.06786	0.001	B	0.04013	0.001	T	0.80717	-0.1258	10	0.66056	D	0.02	-11.9933	14.5455	0.68027	0.0:0.8545:0.1455:0.0	.	15	P08473	NEP_HUMAN	I	15	ENSP00000420389:T15I;ENSP00000418525:T15I;ENSP00000420101:T15I;ENSP00000419653:T15I;ENSP00000417079:T15I;ENSP00000353679:T15I;ENSP00000418791:T15I;ENSP00000420542:T15I;ENSP00000417595:T15I	ENSP00000353679:T15I	T	+	2	0	MME	156284694	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.929000	0.48916	2.630000	0.89119	0.591000	0.81541	ACT		0.393	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		11	202	0	0	0	1	0	11	202				
DCT	1638	broad.mit.edu	37	13	95092186	95092186	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr13:95092186T>C	ENST00000377028.5	-	8	1939	c.1526A>G	c.(1525-1527)cAt>cGt	p.H509R	DCT_ENST00000446125.1_Missense_Mutation_p.H542R	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	509					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GCTGCTTAAATGTGTCTCCAT	0.453																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(1525-1527)cAt>cGt		dopachrome tautomerase							135.0	132.0	133.0					13																	95092186		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95092186T>C	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1526A>G	13.37:g.95092186T>C	ENSP00000366227:p.His509Arg					DCT_ENST00000446125.1_Missense_Mutation_p.H542R	p.H509R	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	8	1939	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	509					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.1526A>G	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	T	2.351	-0.348924	0.05208	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99014	-5.3;-5.33	4.88	0.975	0.19721	.	0.823449	0.11453	N	0.562537	D	0.94938	0.8363	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	D	0.90519	0.4487	10	0.31617	T	0.26	-2.072	4.9621	0.14072	0.0:0.2337:0.3545:0.4118	.	542;509	Q09GT4;P40126	.;TYRP2_HUMAN	R	509;542	ENSP00000366227:H509R;ENSP00000392762:H542R	ENSP00000366227:H509R	H	-	2	0	DCT	93890187	0.020000	0.18652	0.038000	0.18304	0.886000	0.51366	0.079000	0.14782	0.267000	0.21916	0.460000	0.39030	CAT		0.453	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			25	60	0	0	0	1	0	25	60				
SURF2	6835	broad.mit.edu	37	9	136227943	136227943	+	Silent	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr9:136227943C>G	ENST00000371964.4	+	6	740	c.699C>G	c.(697-699)ggC>ggG	p.G233G	SURF4_ENST00000467910.1_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	233						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGCAGTTGGGCTCGTTGAAAA	0.493																																						ENST00000371964.4																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(697-699)ggC>ggG		surfeit 2							174.0	179.0	177.0					9																	136227943		2203	4300	6503	SO:0001819	synonymous_variant	6835						protein binding	g.chr9:136227943C>G		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.699C>G	9.37:g.136227943C>G							p.G233G	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	6	740	+			233					Q6IBP9|Q96CD1	Silent	SNP	ENST00000371964.4	37	c.699C>G	CCDS6967.1																																																																																				0.493	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		10	162	0	0	0	1	0	10	162				
TREM2	54209	broad.mit.edu	37	6	41130791	41130791	+	Silent	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr6:41130791G>C	ENST00000373113.3	-	1	123	c.30C>G	c.(28-30)ctC>ctG	p.L10L	TREM2_ENST00000373122.4_Silent_p.L10L|TREM2_ENST00000338469.3_Silent_p.L10L	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	10					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGTGACAAAGAGTAAGATGA	0.582																																						ENST00000373113.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11						c.(28-30)ctC>ctG		triggering receptor expressed on myeloid cells 2							132.0	101.0	111.0					6																	41130791		2203	4300	6503	SO:0001819	synonymous_variant	54209				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr6:41130791G>C	AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.30C>G	6.37:g.41130791G>C						TREM2_ENST00000373122.4_Silent_p.L10L|TREM2_ENST00000338469.3_Silent_p.L10L	p.L10L	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN			1	123	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		10					Q8N5H8|Q8WYN6	Silent	SNP	ENST00000373113.3	37	c.30C>G	CCDS4852.1																																																																																				0.582	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965		7	25	0	0	0	1	0	7	25				
ANGPTL7	10218	broad.mit.edu	37	1	11254561	11254561	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:11254561T>A	ENST00000376819.3	+	4	955	c.716T>A	c.(715-717)gTt>gAt	p.V239D	ANGPTL7_ENST00000476934.1_Intron|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	239	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AGCCACTTTGTTTTGGGCAAT	0.527																																						ENST00000376819.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(715-717)gTt>gAt		angiopoietin-like 7							189.0	169.0	175.0					1																	11254561		2203	4300	6503	SO:0001583	missense	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11254561T>A	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.716T>A	1.37:g.11254561T>A	ENSP00000366015:p.Val239Asp					ANGPTL7_ENST00000476934.1_Intron|MTOR_ENST00000361445.4_Intron	p.V239D	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	4	955	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	239			Fibrinogen C-terminal.		B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	c.716T>A	CCDS128.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030881	0.35797	.	.	ENSG00000171819	ENST00000376819	T	0.76316	-1.01	5.67	-0.164	0.13359	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.432116	0.27802	N	0.017793	T	0.66752	0.2821	L	0.41492	1.28	0.29206	N	0.874873	B	0.25390	0.125	B	0.29942	0.109	T	0.57347	-0.7827	10	0.26408	T	0.33	.	11.2195	0.48846	0.0:0.6476:0.0:0.3524	.	239	O43827	ANGL7_HUMAN	D	239	ENSP00000366015:V239D	ENSP00000366015:V239D	V	+	2	0	ANGPTL7	11177148	0.029000	0.19370	0.202000	0.23494	0.948000	0.59901	0.346000	0.19997	0.013000	0.14918	0.533000	0.62120	GTT		0.527	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		13	166	0	0	0	1	0	13	166				
AGO4	192670	broad.mit.edu	37	1	36282503	36282503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:36282503C>T	ENST00000373210.3	+	2	285	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	14					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TAGCCTGTTTCAGCCACCTCG	0.358																																						ENST00000373210.3																			0											c.(40-42)Cag>Tag		argonaute RISC catalytic component 4							117.0	120.0	119.0					1																	36282503		2203	4300	6503	SO:0001587	stop_gained	192670							g.chr1:36282503C>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.40C>T	1.37:g.36282503C>T	ENSP00000362306:p.Gln14*						p.Q14*	NM_017629.3	NP_060099.2					2	285	+								A7MD27	Nonsense_Mutation	SNP	ENST00000373210.3	37	c.40C>T	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	38	6.771173	0.97825	.	.	ENSG00000134698	ENST00000373210	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-10.4907	19.0609	0.93093	0.0:1.0:0.0:0.0	.	.	.	.	X	14	.	ENSP00000362306:Q14X	Q	+	1	0	EIF2C4	36055090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.026000	0.70873	2.522000	0.85027	0.655000	0.94253	CAG		0.358	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		12	97	0	0	0	1	0	12	97				
NTN4	59277	broad.mit.edu	37	12	96107023	96107023	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr12:96107023C>T	ENST00000343702.4	-	4	1406	c.958G>A	c.(958-960)Gat>Aat	p.D320N	NTN4_ENST00000552603.1_5'Flank|NTN4_ENST00000538383.1_Missense_Mutation_p.D283N|NTN4_ENST00000344911.4_Missense_Mutation_p.D283N|NTN4_ENST00000553059.1_Missense_Mutation_p.D320N	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	320	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTTTTGCCATCAGCTGCCTCC	0.517																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(958-960)Gat>Aat		netrin 4							109.0	94.0	99.0					12																	96107023		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96107023C>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.958G>A	12.37:g.96107023C>T	ENSP00000340998:p.Asp320Asn					NTN4_ENST00000538383.1_Missense_Mutation_p.D283N|NTN4_ENST00000344911.4_Missense_Mutation_p.D283N|NTN4_ENST00000553059.1_Missense_Mutation_p.D320N	p.D320N	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN			4	1406	-			320			Laminin EGF-like 1.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.958G>A	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	8.648	0.897613	0.17686	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.37584	1.22;1.19;1.19;1.26	4.99	4.09	0.47781	EGF-like, laminin (2);	0.094233	0.64402	D	0.000001	T	0.24314	0.0589	L	0.33339	1.005	0.39806	D	0.972635	B;B	0.18863	0.031;0.003	B;B	0.21360	0.034;0.027	T	0.07966	-1.0745	10	0.19147	T	0.46	.	8.6458	0.34005	0.0:0.7694:0.0:0.2306	.	320;320	Q9HB63-2;Q9HB63	.;NET4_HUMAN	N	320;283;283;320	ENSP00000340998:D320N;ENSP00000339436:D283N;ENSP00000444432:D283N;ENSP00000447292:D320N	ENSP00000340998:D320N	D	-	1	0	NTN4	94631154	0.560000	0.26570	1.000000	0.80357	0.946000	0.59487	0.907000	0.28531	2.323000	0.78572	0.491000	0.48974	GAT		0.517	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		10	55	0	0	0	1	0	10	55				
CNGB3	54714	broad.mit.edu	37	8	87641148	87641148	+	Splice_Site	SNP	T	T	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr8:87641148T>C	ENST00000320005.5	-	12	1526	c.1479A>G	c.(1477-1479)ctA>ctG	p.L493L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	493					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CATGCTTACCTAGCATTCTTT	0.383																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.e12+1		cyclic nucleotide gated channel beta 3							167.0	157.0	160.0					8																	87641148		2203	4300	6503	SO:0001630	splice_region_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87641148T>C	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1480+1A>G	8.37:g.87641148T>C							p.L493_splice	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			12	1526	-			493					C9JA51|Q9NRE9	Splice_Site	SNP	ENST00000320005.5	37	c.1480_splice	CCDS6244.1																																																																																				0.383	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	Silent	14	198	0	0	0	1	0	14	198				
CDC5L	988	broad.mit.edu	37	6	44413455	44413455	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr6:44413455A>T	ENST00000371477.3	+	15	2454	c.2155A>T	c.(2155-2157)Att>Ttt	p.I719F		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	719	Interaction with PLRG1.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAGATGAAAATTTTGCTTGG	0.463																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(2155-2157)Att>Ttt		cell division cycle 5-like							82.0	80.0	81.0					6																	44413455		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44413455A>T	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.2155A>T	6.37:g.44413455A>T	ENSP00000360532:p.Ile719Phe						p.I719F	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		15	2454	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		719			Interaction with PLRG1.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.2155A>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233762	0.79688	.	.	ENSG00000096401	ENST00000371477	T	0.49139	0.79	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	M	0.78801	2.425	0.80722	D	1	B	0.32396	0.369	B	0.39617	0.305	T	0.55386	-0.8149	10	0.72032	D	0.01	-14.0873	15.917	0.79527	1.0:0.0:0.0:0.0	.	719	Q99459	CDC5L_HUMAN	F	719	ENSP00000360532:I719F	ENSP00000360532:I719F	I	+	1	0	CDC5L	44521433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.365000	0.79537	2.168000	0.68352	0.528000	0.53228	ATT		0.463	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			18	65	0	0	0	1	0	18	65				
CLEC18B	497190	broad.mit.edu	37	16	74447558	74447558	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr16:74447558G>C	ENST00000339953.5	-	4	594	c.473C>G	c.(472-474)tCa>tGa	p.S158*		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	158	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGCTGGCTTGAGGTGGCCCA	0.602																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(472-474)tCa>tGa		C-type lectin domain family 18, member B							102.0	102.0	102.0					16																	74447558		2198	4298	6496	SO:0001587	stop_gained	497190					extracellular region	sugar binding	g.chr16:74447558G>C	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.473C>G	16.37:g.74447558G>C	ENSP00000341051:p.Ser158*						p.S158*	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			4	594	-			158			SCP.		B4DF90	Nonsense_Mutation	SNP	ENST00000339953.5	37	c.473C>G	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	g	36	5.831713	0.97003	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	.	.	.	3.1	3.1	0.35709	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.5605	0.39366	0.0:0.0:1.0:0.0	.	.	.	.	X	158;158;158;78	.	ENSP00000268492:S158X	S	-	2	0	CLEC18B	73005059	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	6.932000	0.75869	1.571000	0.49722	0.537000	0.68136	TCA		0.602	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		23	147	0	0	0	1	0	23	147				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	111	0	0	0	1	0	6	111				
IGFALS	3483	broad.mit.edu	37	16	1838664	1838664	+	IGR	SNP	C	C	A	rs147565674		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr16:1838664C>A	ENST00000215539.3	-	0	2116				NUBP2_ENST00000568706.1_Silent_p.L114L|NUBP2_ENST00000543305.1_Silent_p.L114L|NUBP2_ENST00000262302.9_Silent_p.L255L|NUBP2_ENST00000565987.1_Silent_p.L195L			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TCGCTGCACTCACCTCCATAG	0.667																																						ENST00000262302.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(763-765)ctC>ctA		nucleotide binding protein 2							37.0	34.0	35.0					16																	1838664		2196	4298	6494	SO:0001628	intergenic_variant	10101					microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding	g.chr16:1838664C>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638		16.37:g.1838664C>A						NUBP2_ENST00000543305.1_Silent_p.L114L|NUBP2_ENST00000565987.1_Silent_p.L195L|NUBP2_ENST00000568706.1_Silent_p.L114L	p.L255L	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN			7	885	+			255					B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	c.765C>A	CCDS10446.1																																																																																				0.667	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			7	21	1	0	2.0095e-06	1	2.20555e-06	7	21				
RUSC2	9853	broad.mit.edu	37	9	35555103	35555103	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr9:35555103G>C	ENST00000455600.1	+	3	2630	c.2061G>C	c.(2059-2061)caG>caC	p.Q687H		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	687						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCAAGGAACAGAGGCCAACCA	0.582																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2059-2061)caG>caC		RUN and SH3 domain containing 2							94.0	95.0	94.0					9																	35555103		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35555103G>C	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2061G>C	9.37:g.35555103G>C	ENSP00000393922:p.Gln687His						p.Q687H	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2630	+			687					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2061G>C	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862899	0.71949	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.30182	1.54;1.54	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.34521	1.04	0.45307	D	0.998303	D	0.67145	0.996	P	0.57371	0.819	T	0.35919	-0.9769	10	0.72032	D	0.01	-5.8705	16.9888	0.86348	0.0:0.0:1.0:0.0	.	687	Q8N2Y8	RUSC2_HUMAN	H	687	ENSP00000355177:Q687H;ENSP00000393922:Q687H	ENSP00000355177:Q687H	Q	+	3	2	RUSC2	35545103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.622000	0.67750	2.317000	0.78254	0.563000	0.77884	CAG		0.582	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		32	89	0	0	0	1	0	32	89				
OCM	654231	broad.mit.edu	37	7	5922148	5922148	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr7:5922148A>T	ENST00000242104.5	+	2	178	c.86A>T	c.(85-87)aAa>aTa	p.K29I	OCM_ENST00000416608.1_Missense_Mutation_p.K29I	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	29							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		GAACCCCAAAAATTCTTCCAG	0.453																																						ENST00000242104.5																			0				endometrium(1)|large_intestine(3)|lung(2)	6						c.(85-87)aAa>aTa		oncomodulin							129.0	131.0	130.0					7																	5922148		2203	4300	6503	SO:0001583	missense	654231						calcium ion binding	g.chr7:5922148A>T	BC069468	CCDS43548.1	7p22.1	2013-01-10						"""EF-hand domain containing"""	8105	protein-coding gene	gene with protein product	"""oncomodulin 1"""	164795				1559707, 8354278	Standard	NM_001097622		Approved	OCM1	uc003spe.4	P0CE72		ENST00000242104.5:c.86A>T	7.37:g.5922148A>T	ENSP00000242104:p.Lys29Ile					OCM_ENST00000416608.1_Missense_Mutation_p.K29I	p.K29I	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)	2	178	+		Ovarian(82;0.0694)	29					B9EJH7|P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000242104.5	37	c.86A>T	CCDS43548.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029081	0.54790	.	.	ENSG00000122543	ENST00000416608;ENST00000242104	T;T	0.78364	-1.17;-1.17	3.61	3.61	0.41365	.	0.111974	0.64402	D	0.000013	T	0.80813	0.4695	M	0.66506	2.035	0.44432	D	0.997356	B	0.31351	0.32	B	0.44315	0.446	T	0.81560	-0.0877	10	0.59425	D	0.04	3.204	11.446	0.50123	1.0:0.0:0.0:0.0	.	29	P0CE72	ONCO_HUMAN	I	29	ENSP00000401365:K29I;ENSP00000242104:K29I	ENSP00000242104:K29I	K	+	2	0	OCM	5888674	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	3.301000	0.51842	1.434000	0.47414	0.405000	0.27470	AAA		0.453	OCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340372.1	NM_001097622		34	94	0	0	0	1	0	34	94				
HNRNPA3	220988	broad.mit.edu	37	2	178082558	178082558	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:178082558G>A	ENST00000392524.2	+	8	1183	c.946G>A	c.(946-948)Gga>Aga	p.G316R	HNRNPA3_ENST00000411529.2_Missense_Mutation_p.G294R|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G316R			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	316	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						CAATGAAGGAGGAAATTTTGG	0.403																																						ENST00000411529.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						c.(880-882)Gga>Aga		heterogeneous nuclear ribonucleoprotein A3							100.0	92.0	95.0					2																	178082558		2203	4300	6503	SO:0001583	missense	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178082558G>A	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.946G>A	2.37:g.178082558G>A	ENSP00000376309:p.Gly316Arg					HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G316R|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G316R	p.G294R	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN			8	931	+			316			Gly-rich.		D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	c.880G>A	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	g	18.04	3.533856	0.64972	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	D;D;D	0.87887	-2.31;-2.31;-2.31	4.51	4.51	0.55191	.	0.316688	0.22150	U	0.063939	D	0.91905	0.7437	M	0.70275	2.135	0.49687	D	0.999817	D;D	0.69078	0.994;0.997	P;P	0.61328	0.887;0.887	D	0.91652	0.5335	10	0.41790	T	0.15	.	17.6402	0.88133	0.0:0.0:1.0:0.0	.	294;316	B4DDB6;P51991	.;ROA3_HUMAN	R	316;294;260;261;316	ENSP00000376309:G316R;ENSP00000408487:G294R;ENSP00000416340:G316R	ENSP00000376309:G316R	G	+	1	0	HNRNPA3	177790804	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.212000	0.77941	2.264000	0.75181	0.543000	0.68304	GGA		0.403	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		34	125	0	0	0	1	0	34	125				
APP	351	broad.mit.edu	37	21	27269970	27269970	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr21:27269970T>C	ENST00000346798.3	-	16	2012	c.1979A>G	c.(1978-1980)aAt>aGt	p.N660S	APP_ENST00000448388.2_Missense_Mutation_p.N550S|APP_ENST00000357903.3_Missense_Mutation_p.N641S|APP_ENST00000348990.5_Missense_Mutation_p.N585S|APP_ENST00000440126.3_Missense_Mutation_p.N636S|APP_ENST00000439274.2_Missense_Mutation_p.N604S|APP_ENST00000358918.3_Missense_Mutation_p.N642S|APP_ENST00000359726.3_Missense_Mutation_p.N604S|APP_ENST00000354192.3_Missense_Mutation_p.N529S	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	660					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CGTCTTGATATTTGTCAACCC	0.348																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1924-1926)aAt>aGt		amyloid beta (A4) precursor protein							153.0	147.0	149.0					21																	27269970		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27269970T>C	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1979A>G	21.37:g.27269970T>C	ENSP00000284981:p.Asn660Ser					APP_ENST00000354192.3_Missense_Mutation_p.N529S|APP_ENST00000359726.3_Missense_Mutation_p.N604S|APP_ENST00000348990.5_Missense_Mutation_p.N585S|APP_ENST00000448388.2_Missense_Mutation_p.N550S|APP_ENST00000357903.3_Missense_Mutation_p.N641S|APP_ENST00000346798.3_Missense_Mutation_p.N660S|APP_ENST00000439274.2_Missense_Mutation_p.N604S|APP_ENST00000440126.3_Missense_Mutation_p.N636S	p.N642S	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			15	2124	-		Breast(209;0.00295)	660					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1925A>G	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.065306	0.36470	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	D;D;D;D;D;D;D;D;D;D	0.95949	-1.92;-3.86;-3.86;-1.93;-1.74;-3.86;-3.86;-1.93;-1.92;-2.83	5.5	5.5	0.81552	.	0.167354	0.56097	D	0.000037	D	0.90930	0.7149	N	0.22421	0.69	0.48511	D	0.999669	B;B;B;B;B;B;B	0.26483	0.064;0.15;0.034;0.106;0.135;0.135;0.15	B;B;B;B;B;B;B	0.26517	0.012;0.027;0.032;0.042;0.07;0.07;0.027	D	0.88088	0.2811	10	0.23891	T	0.37	-25.533	15.4312	0.75102	0.0:0.0:0.0:1.0	.	550;604;636;529;585;641;660	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	S	660;529;585;641;642;604;550;636;604;229	ENSP00000284981:N660S;ENSP00000346129:N529S;ENSP00000345463:N585S;ENSP00000350578:N641S;ENSP00000351796:N642S;ENSP00000352760:N604S;ENSP00000388538:N550S;ENSP00000387483:N636S;ENSP00000398879:N604S;ENSP00000397795:N229S	ENSP00000284981:N660S	N	-	2	0	APP	26191841	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	3.731000	0.55013	2.310000	0.77875	0.450000	0.29827	AAT		0.348	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		40	117	0	0	0	1	0	40	117				
CCDC39	339829	broad.mit.edu	37	3	180337659	180337659	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:180337659G>C	ENST00000442201.2	-	15	2217	c.2098C>G	c.(2098-2100)Caa>Gaa	p.Q700E	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	700					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCAGCACTTGAAGGGTATTT	0.348																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2098-2100)Caa>Gaa		coiled-coil domain containing 39							96.0	85.0	88.0					3																	180337659		1810	4074	5884	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180337659G>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2098C>G	3.37:g.180337659G>C	ENSP00000405708:p.Gln700Glu					CCDC39_ENST00000273654.4_Intron	p.Q700E	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		15	2217	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		700					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.2098C>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	3.549	-0.092049	0.07053	.	.	ENSG00000145075	ENST00000442201	T	0.77358	-1.09	5.55	5.55	0.83447	.	.	.	.	.	T	0.69052	0.3068	L	0.57536	1.79	0.80722	D	1	P	0.34800	0.469	B	0.30572	0.117	T	0.66984	-0.5785	9	0.02654	T	1	.	14.6869	0.69055	0.0715:0.0:0.9285:0.0	.	700	Q9UFE4	CCD39_HUMAN	E	700	ENSP00000405708:Q700E	ENSP00000405708:Q700E	Q	-	1	0	CCDC39	181820353	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	4.563000	0.60823	2.596000	0.87737	0.563000	0.77884	CAA		0.348	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		10	34	0	0	0	1	0	10	34				
ALPK3	57538	broad.mit.edu	37	15	85399943	85399943	+	Silent	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr15:85399943G>A	ENST00000258888.5	+	6	2747	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	860					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGTGCACAGAAGGGCATGA	0.542																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2578-2580)caG>caA		alpha-kinase 3							188.0	164.0	172.0					15																	85399943		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85399943G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2580G>A	15.37:g.85399943G>A							p.Q860Q	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	2747	+			860					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.2580G>A	CCDS10333.1																																																																																				0.542	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		5	46	0	0	0	1	0	5	46				
SLC2A3	6515	broad.mit.edu	37	12	8077033	8077033	+	Silent	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr12:8077033C>G	ENST00000075120.7	-	8	1281	c.1041G>C	c.(1039-1041)acG>acC	p.T347T		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	347					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAGTCATGAGCGTGGAACAAA	0.438													C|||	2	0.000399361	0.0015	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1039-1041)acG>acC		solute carrier family 2 (facilitated glucose transporter), member 3							81.0	90.0	87.0					12																	8077033		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8077033C>G	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1041G>C	12.37:g.8077033C>G							p.T347T	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	8	1281	-			347					B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.1041G>C	CCDS8586.1																																																																																				0.438	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		12	59	0	0	0	1	0	12	59				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			645528							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		6	43	0	0	0	1	0	6	43				
PBDC1	51260	broad.mit.edu	37	X	75395436	75395436	+	Silent	SNP	A	A	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chrX:75395436A>G	ENST00000373358.3	+	4	488	c.285A>G	c.(283-285)gaA>gaG	p.E95E	PBDC1_ENST00000373357.3_Silent_p.E95E	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	95																	TCAAGTCAGAATCAGCCAAAG	0.328																																						ENST00000373358.3																			0											c.(283-285)gaA>gaG		polysaccharide biosynthesis domain containing 1							56.0	50.0	52.0					X																	75395436		2203	4300	6503	SO:0001819	synonymous_variant	51260							g.chrX:75395436A>G	BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"""chromosome X open reading frame 26"""	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.285A>G	X.37:g.75395436A>G						PBDC1_ENST00000373357.3_Silent_p.E95E	p.E95E	NM_016500.3	NP_057584.2					4	488	+									Silent	SNP	ENST00000373358.3	37	c.285A>G	CCDS14432.1																																																																																				0.328	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057294.1	NM_016500		13	17	0	0	0	1	0	13	17				
ARHGEF3	50650	broad.mit.edu	37	3	56766330	56766330	+	Silent	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:56766330G>A	ENST00000296315.3	-	9	1332	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	ARHGEF3_ENST00000496106.1_Silent_p.D394D|ARHGEF3_ENST00000338458.4_Silent_p.D420D|ARHGEF3_ENST00000413728.2_Silent_p.D394D|ARHGEF3_ENST00000497267.1_Silent_p.D359D|ARHGEF3_ENST00000495373.1_Silent_p.D388D	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	388	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CATCCTGGAGGTCTTCCAGCA	0.542																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(1180-1182)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 3							133.0	120.0	124.0					3																	56766330		2203	4300	6503	SO:0001819	synonymous_variant	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56766330G>A	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1164C>T	3.37:g.56766330G>A						ARHGEF3_ENST00000496106.1_Silent_p.D394D|ARHGEF3_ENST00000296315.3_Silent_p.D388D|ARHGEF3_ENST00000338458.4_Silent_p.D420D|ARHGEF3_ENST00000497267.1_Silent_p.D359D|ARHGEF3_ENST00000495373.1_Silent_p.D388D	p.D394D	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	9	1725	-			388			PH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Silent	SNP	ENST00000296315.3	37	c.1182C>T	CCDS2878.1																																																																																				0.542	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		26	87	0	0	0	1	0	26	87				
GINS2	51659	broad.mit.edu	37	16	85721167	85721167	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr16:85721167G>C	ENST00000253462.3	-	2	204	c.104C>G	c.(103-105)cCt>cGt	p.P35R	C16orf74_ENST00000602758.1_5'Flank	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	35					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						AGGGTTAAAAGGCCCCAGGTC	0.468																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(103-105)cCt>cGt		GINS complex subunit 2 (Psf2 homolog)							68.0	66.0	67.0					16																	85721167		2198	4300	6498	SO:0001583	missense	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85721167G>C	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.104C>G	16.37:g.85721167G>C	ENSP00000253462:p.Pro35Arg						p.P35R	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN			2	204	-			35					D3DUM5|Q6IAG9	Missense_Mutation	SNP	ENST00000253462.3	37	c.104C>G	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274712	0.59649	.	.	ENSG00000131153	ENST00000253462	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87402	0.2370	9	0.87932	D	0	-19.5658	15.7713	0.78170	0.0:0.0:1.0:0.0	.	35;35	Q53G08;Q9Y248	.;PSF2_HUMAN	R	35	.	ENSP00000253462:P35R	P	-	2	0	GINS2	84278668	1.000000	0.71417	0.927000	0.36925	0.339000	0.28857	6.766000	0.74970	2.009000	0.58944	0.484000	0.47621	CCT		0.468	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		7	55	0	0	0	1	0	7	55				
HECTD4	283450	broad.mit.edu	37	12	112673334	112673334	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr12:112673334G>A	ENST00000430131.2	-	35	5578	c.4433C>T	c.(4432-4434)gCa>gTa	p.A1478V	HECTD4_ENST00000550722.1_Missense_Mutation_p.A1754V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1728V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1478					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGCCAGCTTTGCTAAGAGCAG	0.567																																						ENST00000550722.1																			0											c.(5260-5262)gCa>gTa		HECT domain containing E3 ubiquitin protein ligase 4							58.0	59.0	58.0					12																	112673334		1980	4183	6163	SO:0001583	missense	283450							g.chr12:112673334G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4433C>T	12.37:g.112673334G>A	ENSP00000404379:p.Ala1478Val					HECTD4_ENST00000377560.5_Missense_Mutation_p.A1728V|HECTD4_ENST00000430131.2_Missense_Mutation_p.A1478V	p.A1754V	NM_001109662.3	NP_001103132.3					36	5656	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.5261C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.186729	0.94885	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.54675	0.56;0.56;0.56	5.89	5.0	0.66597	.	.	.	.	.	T	0.59528	0.2200	N	0.19112	0.55	0.58432	D	0.999996	D	0.63880	0.993	D	0.68192	0.956	T	0.66512	-0.5905	9	0.87932	D	0	.	17.2398	0.87010	0.0:0.1256:0.8744:0.0	.	1478	Q9Y4D8	K0614_HUMAN	V	1728;1478;1754	ENSP00000366783:A1728V;ENSP00000404379:A1478V;ENSP00000449784:A1754V	ENSP00000366783:A1728V	A	-	2	0	C12orf51	111157717	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	9.358000	0.97109	1.471000	0.48121	0.655000	0.94253	GCA		0.567	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		16	43	0	0	0	1	0	16	43				
RANBP2	5903	broad.mit.edu	37	2	109382596	109382596	+	Silent	SNP	A	A	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:109382596A>G	ENST00000283195.6	+	20	5727	c.5601A>G	c.(5599-5601)gaA>gaG	p.E1867E		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1867					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGATCAAGAAAATTCACCTT	0.358																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(5599-5601)gaA>gaG		RAN binding protein 2							82.0	96.0	92.0					2																	109382596		2193	4294	6487	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382596A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5601A>G	2.37:g.109382596A>G							p.E1867E	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	5727	+			1867					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.5601A>G	CCDS2079.1																																																																																				0.358	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		85	203	0	0	0	1	0	85	203				
SRSF6	6431	broad.mit.edu	37	20	42088499	42088499	+	Missense_Mutation	SNP	A	A	T	rs190813615		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr20:42088499A>T	ENST00000244020.3	+	3	451	c.345A>T	c.(343-345)gaA>gaT	p.E115D		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	115	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TTATTGTAGAAAATCTTTCTA	0.378																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(343-345)gaA>gaT		serine/arginine-rich splicing factor 6							139.0	129.0	133.0					20																	42088499		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088499A>T	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.345A>T	20.37:g.42088499A>T	ENSP00000244020:p.Glu115Asp						p.E115D	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			3	451	+			115			RRM 2.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.345A>T	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.088926	0.55968	.	.	ENSG00000124193	ENST00000244020	T	0.16597	2.33	5.86	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.51422	1.61	0.58432	D	0.999991	D;D	0.60575	0.988;0.966	P;P	0.61132	0.884;0.884	T	0.01961	-1.1239	10	0.72032	D	0.01	.	10.9571	0.47364	0.9259:0.0:0.074:0.0	.	115;115	Q13247;A8K588	SRSF6_HUMAN;.	D	115	ENSP00000244020:E115D	ENSP00000244020:E115D	E	+	3	2	SRSF6	41521913	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.277000	0.51654	1.054000	0.40438	-0.353000	0.07706	GAA		0.378	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		39	103	0	0	0	1	0	39	103				
TWF2	11344	broad.mit.edu	37	3	52263740	52263740	+	Silent	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:52263740G>A	ENST00000305533.5	-	8	1062	c.819C>T	c.(817-819)tcC>tcT	p.S273S	TWF2_ENST00000499914.2_Intron|TLR9_ENST00000494383.1_Nonsense_Mutation_p.Q134*|TLR9_ENST00000597542.1_Silent_p.S4S	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	273	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCTTGCAGCTGGAGTAGAGCA	0.622																																						ENST00000494383.1																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(400-402)Cag>Tag		toll-like receptor 9	Chloroquine(DB00608)						72.0	74.0	74.0					3																	52263740		2203	4300	6503	SO:0001819	synonymous_variant	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52263740G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.819C>T	3.37:g.52263740G>A						TWF2_ENST00000305533.5_Silent_p.S273S|TWF2_ENST00000499914.2_Intron|TLR9_ENST00000597542.1_Silent_p.S4S	p.Q134*			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	399	-			0					Q9Y3F5	Nonsense_Mutation	SNP	ENST00000305533.5	37	c.400C>T	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392524	0.25118	.	.	ENSG00000173366	ENST00000494383	.	.	.	4.53	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1668	0.15090	0.1686:0.0:0.6623:0.169	.	.	.	.	X	134	.	.	Q	-	1	0	RP11-330H6.5	52238780	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.583000	0.53928	0.854000	0.35336	0.561000	0.74099	CAG		0.622	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			13	67	0	0	0	1	0	13	67				
C1QTNF3	114899	broad.mit.edu	37	5	34033477	34033477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr5:34033477G>A	ENST00000231338.7	-	3	370	c.283C>T	c.(283-285)Cga>Tga	p.R95*	C1QTNF3_ENST00000382065.3_Nonsense_Mutation_p.R168*|C1QTNF3_ENST00000513065.1_5'Flank|RP11-1084J3.4_ENST00000382079.3_Nonsense_Mutation_p.R79*	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	95	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CGCTCCCCTCGAGGCCCCAGG	0.562																																						ENST00000382065.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17						c.(502-504)Cga>Tga		C1q and tumor necrosis factor related protein 3							127.0	125.0	126.0					5																	34033477		2203	4300	6503	SO:0001587	stop_gained	114899					collagen		g.chr5:34033477G>A	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.283C>T	5.37:g.34033477G>A	ENSP00000231338:p.Arg95*					C1QTNF3_ENST00000231338.7_Nonsense_Mutation_p.R95*	p.R168*	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN			3	1208	-	all_lung(31;0.0207)		95			C1q.		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Nonsense_Mutation	SNP	ENST00000231338.7	37	c.502C>T	CCDS3904.1	.	.	.	.	.	.	.	.	.	.	G	44	10.943138	0.99492	.	.	ENSG00000082196	ENST00000382065;ENST00000231338	.	.	.	5.53	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	13.3964	0.60856	0.0:0.0:0.7273:0.2727	.	.	.	.	X	168;95	.	ENSP00000231338:R95X	R	-	1	2	C1QTNF3	34069234	0.996000	0.38824	0.998000	0.56505	0.997000	0.91878	1.831000	0.39141	2.770000	0.95276	0.655000	0.94253	CGA		0.562	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945		22	78	0	0	0	1	0	22	78				
LTK	4058	broad.mit.edu	37	15	41804923	41804923	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr15:41804923G>C	ENST00000263800.6	-	3	437	c.341C>G	c.(340-342)cCg>cGg	p.P114R	LTK_ENST00000355166.5_Missense_Mutation_p.P114R|LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Missense_Mutation_p.P114R	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	114					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCCAGGGCCCGGCACGCGCCA	0.662										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(340-342)cCg>cGg		leukocyte receptor tyrosine kinase							11.0	12.0	11.0					15																	41804923		2181	4258	6439	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41804923G>C	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.341C>G	15.37:g.41804923G>C	ENSP00000263800:p.Pro114Arg	TSP Lung(18;0.14)				LTK_ENST00000355166.5_Missense_Mutation_p.P114R|LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Missense_Mutation_p.P114R	p.P114R	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	3	437	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	114					A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.341C>G	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258584	0.59321	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	D;D;D	0.85556	-2.0;-1.61;-1.86	3.9	1.99	0.26369	.	.	.	.	.	D	0.91875	0.7428	M	0.87097	2.86	0.20563	N	0.999887	D;D;D	0.89917	0.991;0.989;1.0	D;P;D	0.87578	0.944;0.906;0.998	T	0.82200	-0.0575	9	0.87932	D	0	.	8.4045	0.32605	0.088:0.1561:0.756:0.0	.	114;114;114	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	R	114	ENSP00000347293:P114R;ENSP00000263800:P114R;ENSP00000392196:P114R	ENSP00000263800:P114R	P	-	2	0	LTK	39592215	0.989000	0.36119	0.001000	0.08648	0.198000	0.23893	2.784000	0.47774	0.319000	0.23209	0.491000	0.48974	CCG		0.662	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			6	20	0	0	0	1	0	6	20				
ASPM	259266	broad.mit.edu	37	1	197073087	197073087	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:197073087C>G	ENST00000367409.4	-	18	5550	c.5294G>C	c.(5293-5295)aGa>aCa	p.R1765T	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1765	IQ 7. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCGAGCCTTTCTCATTCTGAA	0.358																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5293-5295)aGa>aCa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							89.0	93.0	92.0					1																	197073087		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073087C>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5294G>C	1.37:g.197073087C>G	ENSP00000356379:p.Arg1765Thr					ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.R1765T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	5550	-			1765			IQ 7.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5294G>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893248	0.33442	.	.	ENSG00000066279	ENST00000367409	T	0.71461	-0.57	5.83	5.83	0.93111	.	0.198527	0.45606	D	0.000344	T	0.78755	0.4333	M	0.75615	2.305	0.80722	D	1	P	0.46912	0.886	P	0.55667	0.781	T	0.74881	-0.3513	10	0.23302	T	0.38	.	12.8207	0.57692	0.0:0.8832:0.0:0.1168	.	1765	Q8IZT6	ASPM_HUMAN	T	1765	ENSP00000356379:R1765T	ENSP00000356379:R1765T	R	-	2	0	ASPM	195339710	0.453000	0.25721	0.977000	0.42913	0.327000	0.28475	0.940000	0.28992	2.756000	0.94617	0.585000	0.79938	AGA		0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		48	167	0	0	0	1	0	48	167				
OR6B2	389090	broad.mit.edu	37	2	240969460	240969460	+	Silent	SNP	C	C	T	rs375079185		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:240969460C>T	ENST00000402971.2	-	1	446	c.387G>A	c.(385-387)ccG>ccA	p.P129P		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGTAGCGCAGCGGGTGGCAGA	0.597																																						ENST00000402971.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(385-387)ccG>ccA		olfactory receptor, family 6, subfamily B, member 2		C		1,3549		0,1,1774	7.0	7.0	7.0		387	-8.6	0.0	2		7	0,7952		0,0,3976	no	coding-synonymous	OR6B2	NM_001005853.1		0,1,5750	TT,TC,CC		0.0,0.0282,0.0087		129/313	240969460	1,11501	1775	3976	5751	SO:0001819	synonymous_variant	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969460C>T		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.387G>A	2.37:g.240969460C>T							p.P129P	NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	1	446	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	129					B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	37	c.387G>A	CCDS46559.1																																																																																				0.597	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		4	31	0	0	0	1	0	4	31				
ACTL8	81569	broad.mit.edu	37	1	18149579	18149579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:18149579C>T	ENST00000375406.1	+	2	292	c.76C>T	c.(76-78)Cag>Tag	p.Q26*		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	26					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GAATGAGCCTCAGATGGTCTT	0.597																																						ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(76-78)Cag>Tag		actin-like 8							83.0	69.0	74.0					1																	18149579		2203	4300	6503	SO:0001587	stop_gained	81569					cytoplasm|cytoskeleton		g.chr1:18149579C>T	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.76C>T	1.37:g.18149579C>T	ENSP00000364555:p.Gln26*						p.Q26*	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	292	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	26					Q13104|Q96M75	Nonsense_Mutation	SNP	ENST00000375406.1	37	c.76C>T	CCDS183.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431293	0.83776	.	.	ENSG00000117148	ENST00000375406	.	.	.	5.57	2.29	0.28610	.	0.460849	0.16566	N	0.208854	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.6913	11.9914	0.53178	0.4959:0.5041:0.0:0.0	.	.	.	.	X	26	.	ENSP00000364555:Q26X	Q	+	1	0	ACTL8	18022166	0.526000	0.26298	0.155000	0.22561	0.066000	0.16364	1.158000	0.31737	1.301000	0.44836	0.655000	0.94253	CAG		0.597	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		21	59	0	0	0	1	0	21	59				
GRK4	2868	broad.mit.edu	37	4	3031042	3031042	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr4:3031042A>T	ENST00000398052.4	+	12	1518	c.1175A>T	c.(1174-1176)aAa>aTa	p.K392I	GRK4_ENST00000345167.6_Missense_Mutation_p.K360I|GRK4_ENST00000398051.4_Missense_Mutation_p.K360I|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000504933.1_Missense_Mutation_p.K392I	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TACAAAGAGAAAGTCAAATGG	0.393																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1174-1176)aAa>aTa		G protein-coupled receptor kinase 4							108.0	106.0	107.0					4																	3031042		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3031042A>T		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1175A>T	4.37:g.3031042A>T	ENSP00000381129:p.Lys392Ile					GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000398051.4_Missense_Mutation_p.K360I|GRK4_ENST00000345167.6_Missense_Mutation_p.K360I|GRK4_ENST00000504933.1_Missense_Mutation_p.K392I	p.K392I	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	12	1518	+			392			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.1175A>T	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517307	0.44763	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.140754	0.46758	U	0.000268	T	0.67571	0.2907	L	0.41632	1.29	0.80722	D	1	P;B;P;P	0.48350	0.909;0.207;0.67;0.876	P;P;P;P	0.62435	0.902;0.586;0.703;0.899	T	0.70163	-0.4947	10	0.87932	D	0	-37.5557	9.057	0.36412	0.9081:0.0:0.0919:0.0	.	360;360;392;392	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	I	360;392;360;392	ENSP00000381128:K360I;ENSP00000381129:K392I;ENSP00000264764:K360I;ENSP00000427445:K392I	ENSP00000264764:K360I	K	+	2	0	GRK4	3000840	0.997000	0.39634	0.988000	0.46212	0.101000	0.19017	2.764000	0.47613	2.083000	0.62718	0.523000	0.50628	AAA		0.393	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		23	53	0	0	0	1	0	23	53				
ALPK2	115701	broad.mit.edu	37	18	56246469	56246469	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr18:56246469C>G	ENST00000361673.3	-	4	1752	c.1539G>C	c.(1537-1539)gaG>gaC	p.E513D	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	513						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCTGCCGTCTCCCAACACT	0.517											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1537-1539)gaG>gaC		alpha-kinase 2							201.0	201.0	201.0					18																	56246469		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246469C>G	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1539G>C	18.37:g.56246469C>G	ENSP00000354991:p.Glu513Asp		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.E513D	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1752	-			513					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1539G>C	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896579	0.33442	.	.	ENSG00000198796	ENST00000361673	T	0.56776	0.44	5.58	2.07	0.26955	.	1.362600	0.05225	N	0.509183	T	0.55593	0.1930	L	0.59436	1.845	0.09310	N	1	P	0.46395	0.877	P	0.45829	0.494	T	0.43360	-0.9396	10	0.66056	D	0.02	-3.7646	7.9743	0.30145	0.0:0.4999:0.0:0.5001	.	513	Q86TB3	ALPK2_HUMAN	D	513	ENSP00000354991:E513D	ENSP00000354991:E513D	E	-	3	2	ALPK2	54397449	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.092000	0.15066	0.094000	0.17404	0.655000	0.94253	GAG		0.517	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		9	158	0	0	0	1	0	9	158				
NBAS	51594	broad.mit.edu	37	2	15496481	15496481	+	Missense_Mutation	SNP	G	G	A	rs373721233		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:15496481G>A	ENST00000281513.5	-	33	3902	c.3877C>T	c.(3877-3879)Cgc>Tgc	p.R1293C	NBAS_ENST00000441750.1_Missense_Mutation_p.R1173C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1293					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						TCATGGAAGCGAAGTGCCTGC	0.448																																						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.(3877-3879)Cgc>Tgc		neuroblastoma amplified sequence							164.0	154.0	158.0					2																	15496481		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15496481G>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.3877C>T	2.37:g.15496481G>A	ENSP00000281513:p.Arg1293Cys					NBAS_ENST00000441750.1_Missense_Mutation_p.R1173C	p.R1293C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			33	3902	-			1293					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.3877C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284755	0.40394	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.17370	2.28;2.28	5.93	2.14	0.27477	Secretory pathway Sec39 (1);	0.642488	0.18186	N	0.148994	T	0.18467	0.0443	N	0.14661	0.345	0.25369	N	0.988717	D;D	0.76494	0.999;0.999	D;P	0.64144	0.922;0.873	T	0.07177	-1.0786	10	0.87932	D	0	.	5.9783	0.19393	0.1426:0.0:0.5897:0.2678	.	1173;1293	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	C	1173;1293	ENSP00000413201:R1173C;ENSP00000281513:R1293C	ENSP00000281513:R1293C	R	-	1	0	NBAS	15413932	0.948000	0.32251	0.158000	0.22627	0.388000	0.30384	1.637000	0.37155	0.115000	0.18071	-1.119000	0.02030	CGC		0.448	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		18	42	0	0	0	1	0	18	42				
PEX11G	92960	broad.mit.edu	37	19	7550722	7550722	+	Splice_Site	SNP	A	A	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:7550722A>C	ENST00000221480.1	-	2	258		c.e2+1		PEX11G_ENST00000593942.1_Splice_Site|PEX11G_ENST00000599519.1_5'Flank	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma						peroxisome fission (GO:0016559)|regulation of peroxisome size (GO:0044375)	integral component of peroxisomal membrane (GO:0005779)|intrinsic component of peroxisomal membrane (GO:0031231)|peroxisome (GO:0005777)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						AAACCCTGTTACCTGTGCCCC	0.512																																						ENST00000593942.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						c.e4+1		peroxisomal biogenesis factor 11 gamma							108.0	95.0	99.0					19																	7550722		2203	4300	6503	SO:0001630	splice_region_variant	92960					integral to membrane|peroxisomal membrane		g.chr19:7550722A>C	BC008780	CCDS12178.1	19p13.2	2008-02-05				ENSG00000104883			20208	protein-coding gene	gene with protein product		607583				12417726	Standard	NM_080662		Approved		uc002mgk.2	Q96HA9		ENST00000221480.1:c.249+1T>G	19.37:g.7550722A>C						PEX11G_ENST00000221480.1_Splice_Site				Q96HA9	PX11C_HUMAN			4	542	-								Q8NDM0	Splice_Site	SNP	ENST00000221480.1	37		CCDS12178.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.584199	0.46110	.	.	ENSG00000104883	ENST00000221480	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.015	0.58751	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PEX11G	7456722	1.000000	0.71417	0.993000	0.49108	0.445000	0.32107	7.873000	0.87193	1.951000	0.56629	0.459000	0.35465	.		0.512	PEX11G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458965.1	NM_080662	Intron	7	108	0	0	0	1	0	7	108				
IGKV5-2	28907	broad.mit.edu	37	2	89197097	89197097	+	RNA	SNP	G	G	A			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:89197097G>A	ENST00000390244.2	+	0	205									immunoglobulin kappa variable 5-2																		AGCCAGCCAAGACATTGATGA	0.463																																						ENST00000390244.2																			0																				109.0	108.0	108.0					2																	89197097		2056	4209	6265			28907							g.chr2:89197097G>A	X02485		2p11.2	2012-02-10			ENSG00000211599	ENSG00000211599		"""Immunoglobulins / IGK locus"""	5835	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV52, B2			OTTHUMG00000151535		2.37:g.89197097G>A														0	205	+									RNA	SNP	ENST00000390244.2	37																																																																																						0.463	IGKV5-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323040.2	NG_000834		36	88	0	0	0	1	0	36	88				
PLCB1	23236	broad.mit.edu	37	20	8639305	8639305	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr20:8639305A>C	ENST00000338037.6	+	9	843	c.816A>C	c.(814-816)caA>caC	p.Q272H	PLCB1_ENST00000378637.2_Missense_Mutation_p.Q272H|PLCB1_ENST00000378641.3_Missense_Mutation_p.Q272H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	272					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAAGTCCAAGTATTGATTG	0.413																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(814-816)caA>caC		phospholipase C, beta 1 (phosphoinositide-specific)							128.0	115.0	119.0					20																	8639305		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8639305A>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.816A>C	20.37:g.8639305A>C	ENSP00000338185:p.Gln272His					PLCB1_ENST00000378637.2_Missense_Mutation_p.Q272H|PLCB1_ENST00000338037.6_Missense_Mutation_p.Q272H	p.Q272H	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			9	1291	+			272					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.816A>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579992	0.46006	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.18657	2.2;2.2;2.2	5.95	5.95	0.96441	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.050155	0.85682	D	0.000000	T	0.20170	0.0485	L	0.43152	1.355	0.43360	D	0.995432	B;B	0.19200	0.015;0.034	B;B	0.22152	0.035;0.038	T	0.02821	-1.1106	10	0.44086	T	0.13	.	11.4569	0.50187	0.9305:0.0:0.0695:0.0	.	272;272	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	H	272;272;272;192;192	ENSP00000367908:Q272H;ENSP00000338185:Q272H;ENSP00000367904:Q272H	ENSP00000338185:Q272H	Q	+	3	2	PLCB1	8587305	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.593000	0.36686	2.277000	0.76020	0.528000	0.53228	CAA		0.413	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			36	87	0	0	0	1	0	36	87				
NHLRC1	378884	broad.mit.edu	37	6	18122653	18122653	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr6:18122653C>T	ENST00000340650.3	-	1	198	c.185G>A	c.(184-186)cGc>cAc	p.R62H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	62					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGCCAGAGTGCGCGGGTGCGC	0.701																																						ENST00000340650.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11						c.(184-186)cGc>cAc		NHL repeat containing 1							7.0	8.0	8.0					6																	18122653		2055	3995	6050	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122653C>T	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.185G>A	6.37:g.18122653C>T	ENSP00000345464:p.Arg62His						p.R62H	NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	198	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	62					Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.185G>A	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279453	0.80692	.	.	ENSG00000187566	ENST00000340650	D	0.97232	-4.3	5.23	4.36	0.52297	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.487586	0.20477	N	0.091564	D	0.94338	0.8180	N	0.17564	0.495	0.25480	N	0.987746	D	0.89917	1.0	D	0.71414	0.973	D	0.89117	0.3500	10	0.38643	T	0.18	-16.9369	10.8152	0.46571	0.0:0.8551:0.0:0.1449	.	62	Q6VVB1	NHLC1_HUMAN	H	62	ENSP00000345464:R62H	ENSP00000345464:R62H	R	-	2	0	NHLRC1	18230632	0.823000	0.29233	1.000000	0.80357	0.990000	0.78478	2.277000	0.43417	2.418000	0.82041	0.655000	0.94253	CGC		0.701	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			3	17	0	0	0	1	0	3	17				
OBSCN	84033	broad.mit.edu	37	1	228558406	228558406	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:228558406delC	ENST00000422127.1	+	93	20237	c.20193delC	c.(20191-20193)cacfs	p.H6731fs	OBSCN_ENST00000570156.2_Frame_Shift_Del_p.H7688fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.H4365fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6731					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGAGGCCCACTTCATCAACA	0.612																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(23062-23064)cafs		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							109.0	115.0	113.0					1																	228558406		2035	4187	6222	SO:0001589	frameshift_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228558406delC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20193delC	1.37:g.228558406delC	ENSP00000409493:p.His6731fs					OBSCN_ENST00000422127.1_Frame_Shift_Del_p.H6731fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.H4365fs	p.H7688fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			104	23138	+		Prostate(94;0.0405)	6731			Protein kinase 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	37	c.23064delC	CCDS58065.1																																																																																				0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	89						11	89	---	---	---	---
CHML	1122	broad.mit.edu	37	1	241798371	241798381	+	Frame_Shift_Del	DEL	AAATCAATATT	AAATCAATATT	-			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr1:241798371_241798381delAAATCAATATT	ENST00000366553.1	-	1	851_861	c.688_698delAATATTGATTT	c.(688-699)aatattgatttgfs	p.NIDL230fs	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	230					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTTTGACACCAAATCAATATTAAACCTCCTG	0.313																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(688-699)gfs		choroideremia-like (Rab escort protein 2)																																				SO:0001589	frameshift_variant	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798371_241798381delAAATCAATATT	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.688_698delAATATTGATTT	1.37:g.241798371_241798381delAAATCAATATT	ENSP00000355511:p.Asn230fs					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	p.NIDL230fs	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	851_861	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	230					B2RAB9|Q17RE0|Q9H1Y4	Frame_Shift_Del	DEL	ENST00000366553.1	37	c.688_698delAATATTGATTT	CCDS31073.1																																																																																				0.313	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		39	128						39	128	---	---	---	---
AC011747.6	0	broad.mit.edu	37	2	8743629	8743629	+	lincRNA	DEL	A	A	-	rs372086781		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:8743629delA	ENST00000425678.1	-	0	439																											TGTTTGTACTAAAAAAAAAAA	0.289																																						ENST00000425678.1																			0																																																			0							g.chr2:8743629delA																													2.37:g.8743629delA														0	439	-									RNA	DEL	ENST00000425678.1	37																																																																																						0.289	AC011747.6-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000323325.1			3	3						3	3	---	---	---	---
PUS10	150962	broad.mit.edu	37	2	61181120	61181120	+	Frame_Shift_Del	DEL	T	T	-	rs377425600		TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr2:61181120delT	ENST00000316752.6	-	14	1399	c.1138delA	c.(1138-1140)attfs	p.I380fs	PUS10_ENST00000407787.1_Frame_Shift_Del_p.I380fs	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	380					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GAGTTATTAATTTTCTGTAGT	0.378																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.(1138-1140)ttfs		pseudouridylate synthase 10							98.0	99.0	99.0					2																	61181120		2203	4300	6503	SO:0001589	frameshift_variant	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61181120delT	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1138delA	2.37:g.61181120delT	ENSP00000326003:p.Ile380fs					PUS10_ENST00000407787.1_Frame_Shift_Del_p.I380fs	p.I380fs	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		14	1399	-			380					Q5JPJ5|Q96MI8	Frame_Shift_Del	DEL	ENST00000316752.6	37	c.1138delA	CCDS1865.1																																																																																				0.378	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		13	69						13	69	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132249931	132249931	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:132249931delA	ENST00000260818.6	+	55	6863	c.6615delA	c.(6613-6615)ggafs	p.G2205fs		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2205					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAACAGCAGGATACCTCACAG	0.413																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(6613-6615)ggfs		DnaJ (Hsp40) homolog, subfamily C, member 13							125.0	111.0	115.0					3																	132249931		2203	4300	6503	SO:0001589	frameshift_variant	23317						heat shock protein binding	g.chr3:132249931delA	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6615delA	3.37:g.132249931delA	ENSP00000260818:p.Gly2205fs						p.G2205fs	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			55	6863	+			2205					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Frame_Shift_Del	DEL	ENST00000260818.6	37	c.6615delA	CCDS33857.1																																																																																				0.413	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		10	100						10	100	---	---	---	---
LINC01322	103695433	broad.mit.edu	37	3	165320478	165320481	+	lincRNA	DEL	TATA	TATA	-	rs138565244|rs562060641|rs150429698|rs140783003|rs398106703|rs35354940	byFrequency	TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr3:165320478_165320481delTATA	ENST00000496693.1	+	0	508																											atttttattttatatatatatata	0.314														3999	0.798522	0.7413	0.6744	5008	,	,		8781	0.8462		0.8241	False		,,,				2504	0.8885					ENST00000496693.1																			0																																																			103695433							g.chr3:165320478_165320481delTATA																													3.37:g.165320486_165320489delTATA														0	508	+									RNA	DEL	ENST00000496693.1	37																																																																																						0.314	RP11-85M11.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000350253.1			6	10						6	10	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33943557	33943560	+	Frame_Shift_Del	DEL	AACC	AACC	-			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr9:33943557_33943560delAACC	ENST00000379238.1	-	15	1690_1693	c.1573_1576delGGTT	c.(1573-1578)ggttcafs	p.GS525fs	UBAP2_ENST00000379239.4_Frame_Shift_Del_p.GS258fs|UBAP2_ENST00000539807.1_Frame_Shift_Del_p.GS280fs|UBAP2_ENST00000449054.1_Frame_Shift_Del_p.GS525fs|UBAP2_ENST00000360802.1_Frame_Shift_Del_p.GS525fs|UBAP2_ENST00000379225.1_Frame_Shift_Del_p.GS158fs|UBAP2_ENST00000418786.2_Frame_Shift_Del_p.GS472fs					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACATCTGCTGAACCAGGCATTTCC	0.471																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(1573-1578)cafs		ubiquitin associated protein 2																																				SO:0001589	frameshift_variant	55833							g.chr9:33943557_33943560delAACC	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1573_1576delGGTT	9.37:g.33943557_33943560delAACC	ENSP00000368540:p.Gly525fs					UBAP2_ENST00000539807.1_Frame_Shift_Del_p.GS280fs|UBAP2_ENST00000379239.4_Frame_Shift_Del_p.GS258fs|UBAP2_ENST00000360802.1_Frame_Shift_Del_p.GS525fs|UBAP2_ENST00000379225.1_Frame_Shift_Del_p.GS158fs|UBAP2_ENST00000449054.1_Frame_Shift_Del_p.GS525fs|UBAP2_ENST00000418786.2_Frame_Shift_Del_p.GS472fs	p.GS525fs			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	15	1690_1693	-			525						Frame_Shift_Del	DEL	ENST00000379238.1	37	c.1573_1576delGGTT	CCDS6547.1																																																																																				0.471	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		12	71						12	71	---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32560921	32560921	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr14:32560921delT	ENST00000345122.3	+	2	1361	c.1046delT	c.(1045-1047)cttfs	p.L350fs	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.L350fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.L350fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.L350fs|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	350					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTAACACTCTTTTGCCAAAT	0.313																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1045-1047)ctfs		Rho GTPase activating protein 5							83.0	88.0	87.0					14																	32560921		2191	4294	6485	SO:0001589	frameshift_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560921delT	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1046delT	14.37:g.32560921delT	ENSP00000371897:p.Leu350fs					ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.L350fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.L350fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.L350fs|ARHGAP5_ENST00000396582.2_Intron	p.L350fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1361	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		350					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Del	DEL	ENST00000345122.3	37	c.1046delT	CCDS32062.1																																																																																				0.313	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		60	171						60	171	---	---	---	---
RP5-991G20.1	0	broad.mit.edu	37	16	72763869	72763870	+	RNA	DEL	AA	AA	-			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr16:72763869_72763870delAA	ENST00000563328.2	+	0	164																											GGTCCAAAACAAAAAAAAAAAA	0.431																																						ENST00000563328.2																			0																																																			0							g.chr16:72763869_72763870delAA																													16.37:g.72763879_72763880delAA														0	164	+									RNA	DEL	ENST00000563328.2	37																																																																																						0.431	RP5-991G20.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000421937.2			2	4						2	4	---	---	---	---
ZNF699	374879	broad.mit.edu	37	19	9407234	9407255	+	Frame_Shift_Del	DEL	TTTACATTCATAGTTTGTCTTT	TTTACATTCATAGTTTGTCTTT	-			TCGA-BA-A4IG-01A-11D-A25Y-08	TCGA-BA-A4IG-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d	df122b02-6d09-4441-af8a-cae70fd20fff	g.chr19:9407234_9407255delTTTACATTCATAGTTTGTCTTT	ENST00000591998.1	-	6	1053_1074	c.825_846delAAAGACAAACTATGAATGTAAA	c.(823-846)ggaaagacaaactatgaatgtaaafs	p.GKTNYECK275fs	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Frame_Shift_Del_p.GKTNYECK275fs			Q32M78	ZN699_HUMAN	zinc finger protein 699	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCCACATTCTTTACATTCATAGTTTGTCTTTCCGATGTGAA	0.41																																						ENST00000591998.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(823-846)ggfs		zinc finger protein 699																																				SO:0001589	frameshift_variant	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9407234_9407255delTTTACATTCATAGTTTGTCTTT	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.825_846delAAAGACAAACTATGAATGTAAA	19.37:g.9407234_9407255delTTTACATTCATAGTTTGTCTTT	ENSP00000467723:p.Gly275fs					ZNF699_ENST00000308650.3_Frame_Shift_Del_p.GKTNYECK275fs	p.GKTNYECK275fs			Q32M78	ZN699_HUMAN			6	1053_1074	-			275					Q8N9A1	Frame_Shift_Del	DEL	ENST00000591998.1	37	c.825_846delAAAGACAAACTATGAATGTAAA	CCDS42495.1																																																																																				0.410	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		7	113						7	113	---	---	---	---
