#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
TRIM16	10626	broad.mit.edu	37	17	15532066	15532066	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:15532066G>A	ENST00000578237.1	-	11	2413	c.1558C>T	c.(1558-1560)Cac>Tac	p.H520Y	TRIM16_ENST00000416464.2_Missense_Mutation_p.H390Y|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y|TRIM16_ENST00000336708.7_Missense_Mutation_p.H520Y			O95361	TRI16_HUMAN	tripartite motif containing 16	520	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GCAAACTTGTGAACCAGAGTC	0.507																																						ENST00000578237.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19						c.(1558-1560)Cac>Tac		tripartite motif containing 16							77.0	76.0	76.0					17																	15532066		2203	4300	6503	SO:0001583	missense	10626							g.chr17:15532066G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1558C>T	17.37:g.15532066G>A	ENSP00000463188:p.His520Tyr					TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y|TRIM16_ENST00000416464.2_Missense_Mutation_p.H390Y|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000336708.7_Missense_Mutation_p.H520Y	p.H520Y						UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	11	2413	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.1558C>T	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.051264	0.75960	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.59364	0.27;0.27	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.68997	0.3062	L	0.47016	1.485	0.47659	D	0.999487	D;D	0.76494	0.999;0.999	D;D	0.69824	0.955;0.966	T	0.70525	-0.4848	9	0.52906	T	0.07	.	15.5482	0.76126	0.0:0.0:1.0:0.0	.	390;520	B3KP96;O95361	.;TRI16_HUMAN	Y	520;390	ENSP00000338989:H520Y;ENSP00000399918:H390Y	ENSP00000338989:H520Y	H	-	1	0	TRIM16	15472791	1.000000	0.71417	0.995000	0.50966	0.878000	0.50629	7.213000	0.77950	2.335000	0.79485	0.650000	0.86243	CAC		0.507	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		24	37	0	0	0	1	0	24	37				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	13	0	0	0	1	0	3	13				
FAM179A	165186	broad.mit.edu	37	2	29237325	29237325	+	Silent	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:29237325T>C	ENST00000379558.4	+	8	1293	c.942T>C	c.(940-942)ccT>ccC	p.P314P	FAM179A_ENST00000403861.2_Silent_p.P314P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	314										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGCCCTGCCTTTTTCTCAGT	0.582																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(940-942)ccT>ccC		family with sequence similarity 179, member A							29.0	33.0	32.0					2																	29237325		2118	4255	6373	SO:0001819	synonymous_variant	165186						binding	g.chr2:29237325T>C	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.942T>C	2.37:g.29237325T>C						FAM179A_ENST00000403861.2_Silent_p.P314P	p.P314P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			8	1293	+			314					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.942T>C	CCDS1769.2																																																																																				0.582	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		2	11	0	0	0	1	0	2	11				
TLK2	11011	broad.mit.edu	37	17	60679418	60679418	+	Missense_Mutation	SNP	T	T	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:60679418T>A	ENST00000326270.9	+	20	2070	c.1802T>A	c.(1801-1803)gTa>gAa	p.V601E	TLK2_ENST00000343388.7_Missense_Mutation_p.V547E|TLK2_ENST00000582809.1_Missense_Mutation_p.V430E|TLK2_ENST00000542523.1_Missense_Mutation_p.V547E|TLK2_ENST00000346027.5_Missense_Mutation_p.V579E	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATTCTTTTAGTAAATGGTACA	0.343																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1288-1290)gTa>gAa		tousled-like kinase 2							67.0	69.0	68.0					17																	60679418		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60679418T>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1802T>A	17.37:g.60679418T>A	ENSP00000316512:p.Val601Glu					TLK2_ENST00000346027.5_Missense_Mutation_p.V579E|TLK2_ENST00000343388.7_Missense_Mutation_p.V547E|TLK2_ENST00000326270.9_Missense_Mutation_p.V601E|TLK2_ENST00000542523.1_Missense_Mutation_p.V547E	p.V430E			Q86UE8	TLK2_HUMAN			20	1992	+			601					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.1289T>A		.	.	.	.	.	.	.	.	.	.	T	14.56	2.573086	0.45902	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	N	0.13235	0.315	0.80722	D	1	D;B;B;B	0.89917	1.0;0.34;0.126;0.071	D;B;B;B	0.83275	0.996;0.07;0.112;0.115	T	0.05451	-1.0884	10	0.06891	T	0.86	.	15.2878	0.73843	0.0:0.0:0.0:1.0	.	601;547;579;579	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	E	579;547;601;547	ENSP00000275780:V579E;ENSP00000340800:V547E;ENSP00000316512:V601E;ENSP00000442311:V547E	ENSP00000316512:V601E	V	+	2	0	TLK2	58033150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.201000	0.70794	0.459000	0.35465	GTA		0.343	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		3	31	0	0	0	1	0	3	31				
CSMD1	64478	broad.mit.edu	37	8	2820915	2820915	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr8:2820915C>T	ENST00000520002.1	-	61	9841	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M	CSMD1_ENST00000542608.1_Missense_Mutation_p.V2918M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V3096M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3095M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3096	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGACACAGCACGGCTATTTCC	0.498																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(9286-9288)Gtg>Atg		CUB and Sushi multiple domains 1							121.0	126.0	124.0					8																	2820915		1909	4134	6043	SO:0001583	missense	64478					integral to membrane		g.chr8:2820915C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9286G>A	8.37:g.2820915C>T	ENSP00000430733:p.Val3096Met					CSMD1_ENST00000542608.1_Missense_Mutation_p.V2918M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3095M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M|CSMD1_ENST00000520002.1_Missense_Mutation_p.V3096M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M	p.V3096M			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	61	9841	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3096			Sushi 25.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9286G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.444695|3.444695	0.63178|0.63178	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57	6.03|6.03	5.15|5.15	0.70609|0.70609	.|Complement control module (2);Sushi/SCR/CCP (1);	.|0.172710	.|0.36591	.|N	.|0.002514	T|T	0.55737|0.55737	0.1939|0.1939	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.76494	.|0.999;0.877;0.968	.|D;P;P	.|0.76071	.|0.987;0.541;0.763	T|T	0.61143|0.61143	-0.7122|-0.7122	5|10	.|0.62326	.|D	.|0.03	.|.	5.8231|5.8231	0.18538|0.18538	0.0:0.7513:0.0:0.2487|0.0:0.7513:0.0:0.2487	.|.	.|3096;3096;2918	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	H|M	2512|2919;3096;2957;3095;2918	.|ENSP00000383047:V2919M;ENSP00000430733:V3096M;ENSP00000441462:V3095M;ENSP00000446243:V2918M	.|ENSP00000320445:V2957M	R|V	-|-	2|1	0|0	CSMD1|CSMD1	2808322|2808322	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.157000|0.157000	0.22087|0.22087	1.917000|1.917000	0.39996|0.39996	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		79	44	0	0	0	1	0	79	44				
CPXM1	56265	broad.mit.edu	37	20	2776682	2776682	+	Silent	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr20:2776682G>A	ENST00000380605.2	-	10	1432	c.1368C>T	c.(1366-1368)atC>atT	p.I456I		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	456					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTTGGGGACGATGTGGGGCA	0.572																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1366-1368)atC>atT		carboxypeptidase X (M14 family), member 1							152.0	139.0	143.0					20																	2776682		2203	4300	6503	SO:0001819	synonymous_variant	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776682G>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1368C>T	20.37:g.2776682G>A							p.I456I	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			10	1432	-			456					Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	c.1368C>T	CCDS13033.1																																																																																				0.572	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		69	86	0	0	0	1	0	69	86				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	53	0	0	0	1	0	4	53				
STAT4	6775	broad.mit.edu	37	2	191940981	191940981	+	Missense_Mutation	SNP	A	A	G			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:191940981A>G	ENST00000392320.2	-	4	658	c.344T>C	c.(343-345)aTa>aCa	p.I115T	STAT4_ENST00000358470.4_Missense_Mutation_p.I115T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	115			I -> V (in dbSNP:rs3024839).		cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGCAGCCAATATTCTCCTCTC	0.343																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(343-345)aTa>aCa		signal transducer and activator of transcription 4							108.0	110.0	109.0					2																	191940981		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191940981A>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.344T>C	2.37:g.191940981A>G	ENSP00000376134:p.Ile115Thr					STAT4_ENST00000358470.4_Missense_Mutation_p.I115T	p.I115T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		4	658	-			115		I -> V (in dbSNP:rs3024839).			Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.344T>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125071	0.77436	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000413064	T;T;T	0.57752	0.38;0.38;0.38	5.22	5.22	0.72569	STAT transcription factor, protein interaction (4);	0.050746	0.85682	D	0.000000	T	0.73442	0.3587	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.992;0.997;0.997	T	0.77930	-0.2403	10	0.87932	D	0	-22.5296	14.3842	0.66931	1.0:0.0:0.0:0.0	.	115;115;115	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	T	115;115;88	ENSP00000351255:I115T;ENSP00000376134:I115T;ENSP00000403238:I88T	ENSP00000351255:I115T	I	-	2	0	STAT4	191649226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.219000	0.72231	2.098000	0.63641	0.528000	0.53228	ATA		0.343	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		10	62	0	0	0	1	0	10	62				
PAPPA	5069	broad.mit.edu	37	9	119065088	119065088	+	Silent	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr9:119065088T>C	ENST00000328252.3	+	10	3375	c.3006T>C	c.(3004-3006)ttT>ttC	p.F1002F	PAPPA_ENST00000534838.1_Silent_p.F40F|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1002					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGAGGAGTTTGAACAAAAAA	0.438																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3004-3006)ttT>ttC		pregnancy-associated plasma protein A, pappalysin 1							113.0	99.0	104.0					9																	119065088		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119065088T>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3006T>C	9.37:g.119065088T>C						RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Silent_p.F40F	p.F1002F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			10	3375	+			1002					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.3006T>C	CCDS6813.1																																																																																				0.438	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		3	67	0	0	0	1	0	3	67				
ATP6AP2	10159	broad.mit.edu	37	X	40457949	40457949	+	Missense_Mutation	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chrX:40457949T>C	ENST00000378438.4	+	6	709	c.551T>C	c.(550-552)cTt>cCt	p.L184P	ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	184					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						CTGCTCTTTCTTTCTGAACTG	0.363																																						ENST00000378438.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(550-552)cTt>cCt		ATPase, H+ transporting, lysosomal accessory protein 2							209.0	189.0	196.0					X																	40457949		2203	4300	6503	SO:0001583	missense	10159				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	g.chrX:40457949T>C	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.551T>C	X.37:g.40457949T>C	ENSP00000367697:p.Leu184Pro					ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P	p.L184P	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN			6	709	+			184					B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	ENST00000378438.4	37	c.551T>C	CCDS14252.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.64|19.64	3.865483|3.865483	0.71949|0.71949	.|.	.|.	ENSG00000182220|ENSG00000182220	ENST00000538655;ENST00000447485|ENST00000535539;ENST00000378438;ENST00000436783;ENST00000544975;ENST00000535777	.|T;T;T;T;T	.|0.73897	.|1.26;1.17;0.48;1.18;-0.79	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.056673	.|0.64402	.|D	.|0.000001	D|D	0.85548|0.85548	0.5722|0.5722	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.998;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.951;0.999;0.959;0.979	D|D	0.87287|0.87287	0.2296|0.2296	5|10	.|0.72032	.|D	.|0.01	-0.2496|-0.2496	14.7042|14.7042	0.69176|0.69176	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|106;152;108;184	.|B7Z1I9;B7Z9I3;B7Z413;O75787	.|.;.;.;RENR_HUMAN	L|P	147;159|152;184;184;108;106	.|ENSP00000438415:L152P;ENSP00000367697:L184P;ENSP00000403969:L184P;ENSP00000440459:L108P;ENSP00000441536:L106P	.|ENSP00000367697:L184P	F|L	+|+	1|2	0|0	ATP6AP2|ATP6AP2	40342893|40342893	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.993000|0.993000	0.82548|0.82548	7.136000|7.136000	0.77285|0.77285	1.921000|1.921000	0.55644|0.55644	0.417000|0.417000	0.27973|0.27973	TTT|CTT		0.363	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765		33	24	0	0	0	1	0	33	24				
GPAM	57678	broad.mit.edu	37	10	113920464	113920464	+	Missense_Mutation	SNP	C	C	A	rs151269022	byFrequency	TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr10:113920464C>A	ENST00000348367.4	-	16	1854	c.1657G>T	c.(1657-1659)Gat>Tat	p.D553Y	GPAM_ENST00000423155.1_Missense_Mutation_p.D553Y|GPAM_ENST00000369425.1_Missense_Mutation_p.D553Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	553					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AAAAACTCATCGTTCCTGCTA	0.448																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1657-1659)Gat>Tat		glycerol-3-phosphate acyltransferase, mitochondrial							153.0	126.0	135.0					10																	113920464		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113920464C>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1657G>T	10.37:g.113920464C>A	ENSP00000265276:p.Asp553Tyr					GPAM_ENST00000369425.1_Missense_Mutation_p.D553Y|GPAM_ENST00000423155.1_Missense_Mutation_p.D553Y	p.D553Y			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	16	1854	-			553					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.1657G>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602271	0.46423	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.70045	-0.45;-0.45;-0.45	6.06	6.06	0.98353	.	0.226724	0.44902	D	0.000405	T	0.58836	0.2150	N	0.22421	0.69	0.43913	D	0.996555	D;D	0.58268	0.982;0.982	P;P	0.49477	0.612;0.612	T	0.62905	-0.6755	10	0.87932	D	0	-29.0964	9.4428	0.38679	0.0:0.8829:0.0:0.1171	.	553;553	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	Y	553	ENSP00000265276:D553Y;ENSP00000409242:D553Y;ENSP00000358433:D553Y	ENSP00000265276:D553Y	D	-	1	0	GPAM	113910454	0.996000	0.38824	0.958000	0.39756	0.728000	0.41692	3.478000	0.53158	2.882000	0.98803	0.655000	0.94253	GAT		0.448	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		7	48	1	0	0.00198382	1	0.00210528	7	48				
ZZEF1	23140	broad.mit.edu	37	17	3917452	3917452	+	Missense_Mutation	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:3917452T>C	ENST00000381638.2	-	51	8469	c.8345A>G	c.(8344-8346)gAc>gGc	p.D2782G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2782							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTTGCTCATGTCGGAGGTGAA	0.572																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8344-8346)gAc>gGc		zinc finger, ZZ-type with EF-hand domain 1							104.0	85.0	92.0					17																	3917452		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3917452T>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8345A>G	17.37:g.3917452T>C	ENSP00000371051:p.Asp2782Gly						p.D2782G	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			51	8469	-			2782					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8345A>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	31	5.093180	0.94149	.	.	ENSG00000074755	ENST00000381638	T	0.28069	1.63	5.69	5.69	0.88448	.	0.049433	0.85682	D	0.000000	T	0.39860	0.1094	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	T	0.34800	-0.9814	10	0.56958	D	0.05	-19.9959	15.945	0.79787	0.0:0.0:0.0:1.0	.	2782	O43149	ZZEF1_HUMAN	G	2782	ENSP00000371051:D2782G	ENSP00000371051:D2782G	D	-	2	0	ZZEF1	3864201	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.694000	0.84235	2.159000	0.67721	0.533000	0.62120	GAC		0.572	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		6	56	0	0	0	1	0	6	56				
MGAT4C	25834	broad.mit.edu	37	12	86373542	86373542	+	Missense_Mutation	SNP	G	G	A	rs145801611	byFrequency	TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr12:86373542G>A	ENST00000604798.1	-	8	2166	c.962C>T	c.(961-963)aCg>aTg	p.T321M	MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D|MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	321					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.T321M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTATTCTCCGTCCCTTTGTA	0.403																																						ENST00000604798.1																			1	Substitution - Missense(1)	p.T321M(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(961-963)aCg>aTg		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)		G	MET/THR	0,4406	2.1+/-5.4	0,0,2203	79.0	77.0	77.0		962	2.9	0.0	12	dbSNP_134	77	10,8590	7.1+/-27.0	0,10,4290	yes	missense	MGAT4C	NM_013244.3	81	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	possibly-damaging	321/479	86373542	10,12996	2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373542G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.962C>T	12.37:g.86373542G>A	ENSP00000474896:p.Thr321Met					MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D	p.T321M			Q9UBM8	MGT4C_HUMAN			8	2166	-			321					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.962C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	6.016	0.371253	0.11409	0.0	0.001163	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.75	2.87	0.33458	.	0.333197	0.30800	N	0.008846	T	0.40145	0.1105	L	0.58101	1.795	0.20703	N	0.999869	P;P	0.41848	0.763;0.643	B;B	0.38156	0.266;0.266	T	0.30937	-0.9961	10	0.56958	D	0.05	-15.6009	7.4525	0.27246	0.0659:0.1231:0.683:0.128	.	350;321	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	M	321;350;321;321;321;321;321	ENSP00000331664:T321M;ENSP00000376900:T350M;ENSP00000449022:T321M;ENSP00000446647:T321M;ENSP00000447253:T321M;ENSP00000449172:T321M	ENSP00000331664:T321M	T	-	2	0	MGAT4C	84897673	1.000000	0.71417	0.006000	0.13384	0.001000	0.01503	5.731000	0.68554	0.328000	0.23435	-0.171000	0.13296	ACG		0.403	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		16	36	0	0	0	1	0	16	36				
AMER1	139285	broad.mit.edu	37	X	63412939	63412939	+	Silent	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chrX:63412939T>C	ENST00000330258.3	-	2	500	c.228A>G	c.(226-228)ggA>ggG	p.G76G	AMER1_ENST00000403336.1_Silent_p.G76G|AMER1_ENST00000374869.3_Silent_p.G76G	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	76					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTTTGCTCCGTCCCCCTCCAA	0.537																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(226-228)ggA>ggG		APC membrane recruitment protein 1							129.0	102.0	111.0					X																	63412939		2203	4300	6503	SO:0001819	synonymous_variant	139285							g.chrX:63412939T>C	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.228A>G	X.37:g.63412939T>C						AMER1_ENST00000374869.3_Silent_p.G76G|AMER1_ENST00000403336.1_Silent_p.G76G	p.G76G	NM_152424.3	NP_689637.3					2	500	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.228A>G	CCDS14377.2																																																																																				0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		3	43	0	0	0	1	0	3	43				
CCR6	1235	broad.mit.edu	37	6	167550766	167550766	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr6:167550766G>A	ENST00000341935.5	+	3	1600	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.G350R|CCR6_ENST00000349984.4_Missense_Mutation_p.G350R	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	350					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTCCTGTGCCGGGAGGTACTC	0.483																																						ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(1048-1050)Ggg>Agg		chemokine (C-C motif) receptor 6							66.0	65.0	65.0					6																	167550766		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550766G>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.1048G>A	6.37:g.167550766G>A	ENSP00000343952:p.Gly350Arg					CCR6_ENST00000349984.4_Missense_Mutation_p.G350R|CCR6_ENST00000400926.2_Missense_Mutation_p.G350R	p.G350R	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	1600	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	350					E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.1048G>A	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.429858	0.01117	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.66280	-0.2;-0.2;-0.2	4.79	-9.57	0.00562	.	2.642990	0.01891	N	0.038548	T	0.22704	0.0548	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09164	-1.0687	10	0.12766	T	0.61	.	17.963	0.89091	0.1649:0.7703:0.0648:0.0	.	350	P51684	CCR6_HUMAN	R	350	ENSP00000383715:G350R;ENSP00000343952:G350R;ENSP00000339393:G350R	ENSP00000343952:G350R	G	+	1	0	CCR6	167470756	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.084000	0.14891	-1.953000	0.01026	-2.279000	0.00272	GGG		0.483	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			10	36	0	0	0	1	0	10	36				
TMEM234	56063	broad.mit.edu	37	1	32690027	32690027	+	5'Flank	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:32690027C>T	ENST00000344461.3	-	0	0				TMEM234_ENST00000309777.6_5'Flank|EIF3I_ENST00000373586.1_Silent_p.V67V|TMEM234_ENST00000545122.1_5'Flank|EIF3I_ENST00000471486.1_3'UTR|TMEM234_ENST00000373593.1_5'Flank			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						CCAAGCATGTCCTCACTGGCT	0.483																																						ENST00000373586.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(199-201)gtC>gtT		eukaryotic translation initiation factor 3, subunit I							103.0	91.0	95.0					1																	32690027		2203	4300	6503	SO:0001631	upstream_gene_variant	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32690027C>T	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742		1.37:g.32690027C>T	Exception_encountered					EIF3I_ENST00000471486.1_3'UTR	p.V67V	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN			4	273	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	67					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Silent	SNP	ENST00000344461.3	37	c.201C>T																																																																																					0.483	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		6	80	0	0	0	1	0	6	80				
LRFN4	78999	broad.mit.edu	37	11	66625511	66625511	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr11:66625511G>A	ENST00000309602.4	+	1	539	c.296G>A	c.(295-297)cGt>cAt	p.R99H	PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.R99H|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	99						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GAGAGCCTGCGTTCCCTCCAC	0.657																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(295-297)cGt>cAt		leucine rich repeat and fibronectin type III domain containing 4							35.0	39.0	38.0					11																	66625511		2200	4294	6494	SO:0001583	missense	78999					integral to membrane		g.chr11:66625511G>A	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.296G>A	11.37:g.66625511G>A	ENSP00000312535:p.Arg99His					PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.R99H|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron	p.R99H	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	539	+			99					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.296G>A	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907195	0.52333	.	.	ENSG00000173621	ENST00000393952;ENST00000309602;ENST00000525479	T;T	0.59772	0.24;0.24	4.17	4.17	0.49024	.	0.000000	0.48767	D	0.000167	T	0.64735	0.2625	L	0.43701	1.375	0.46981	D	0.999273	D;D	0.60160	0.987;0.987	P;P	0.60068	0.868;0.828	T	0.66697	-0.5858	10	0.52906	T	0.07	.	14.332	0.66564	0.0:0.0:1.0:0.0	.	99;99	E9PLQ1;Q6PJG9	.;LRFN4_HUMAN	H	99	ENSP00000377524:R99H;ENSP00000312535:R99H	ENSP00000312535:R99H	R	+	2	0	LRFN4	66382087	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	6.063000	0.71162	2.316000	0.78162	0.305000	0.20034	CGT		0.657	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		26	41	0	0	0	1	0	26	41				
APLP1	333	broad.mit.edu	37	19	36362608	36362608	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr19:36362608C>T	ENST00000221891.4	+	5	824	c.632C>T	c.(631-633)cCc>cTc	p.P211L	APLP1_ENST00000537454.2_Missense_Mutation_p.P172L|NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Missense_Mutation_p.P205L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	211	Zinc-binding.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGTGCTGTCCCCCTCCAGGG	0.637																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(631-633)cCc>cTc		amyloid beta (A4) precursor-like protein 1							102.0	91.0	95.0					19																	36362608		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362608C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.632C>T	19.37:g.36362608C>T	ENSP00000221891:p.Pro211Leu					APLP1_ENST00000586861.1_Missense_Mutation_p.P205L|APLP1_ENST00000537454.2_Missense_Mutation_p.P172L	p.P211L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	824	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		211			Zinc-binding.		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.632C>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578628	0.86645	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.96856	-3.96;-4.15	4.41	4.41	0.53225	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, extracellular domain conserved site (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.45606	D	0.000345	D	0.97974	0.9333	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.986;1.0;1.0	D	0.98894	1.0774	10	0.87932	D	0	-15.0667	14.4685	0.67499	0.0:1.0:0.0:0.0	.	205;172;211;211	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	L	172;211	ENSP00000441501:P172L;ENSP00000221891:P211L	ENSP00000221891:P211L	P	+	2	0	APLP1	41054448	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.679000	0.74513	2.006000	0.58801	0.462000	0.41574	CCC		0.637	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		14	62	0	0	0	1	0	14	62				
TRPV3	162514	broad.mit.edu	37	17	3445844	3445844	+	Silent	SNP	G	G	A	rs372599650		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:3445844G>A	ENST00000576742.1	-	6	936	c.615C>T	c.(613-615)aaC>aaT	p.N205N	TRPV3_ENST00000301365.4_Silent_p.N205N|TRPV3_ENST00000572519.1_Silent_p.N205N	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	205					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGTACTCGGCGTTGATGAACC	0.562																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(613-615)aaC>aaT		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)	A		1,4405	2.1+/-5.4	0,1,2202	170.0	127.0	142.0		615	-10.7	0.0	17		142	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TRPV3	NM_145068.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		205/791	3445844	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	162514					integral to membrane	calcium channel activity	g.chr17:3445844G>A	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.615C>T	17.37:g.3445844G>A						TRPV3_ENST00000576742.1_Silent_p.N205N|TRPV3_ENST00000572519.1_Silent_p.N205N	p.N205N			Q8NET8	TRPV3_HUMAN			6	746	-			205					Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	c.615C>T	CCDS11029.1																																																																																				0.562	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		13	25	0	0	0	1	0	13	25				
ZNF7	7553	broad.mit.edu	37	8	146066910	146066910	+	Missense_Mutation	SNP	G	G	A	rs537677717		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr8:146066910G>A	ENST00000528372.1	+	5	658	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	ZNF7_ENST00000544249.1_Missense_Mutation_p.G44R|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000446747.2_Missense_Mutation_p.G151R|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.G140R|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	140					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GGGCAGTCCCGGGCTGAAAGT	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20146	0.0		0.0	False		,,,				2504	0.0					ENST00000528372.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(418-420)Ggg>Agg		zinc finger protein 7							138.0	145.0	143.0					8																	146066910		2203	4300	6503	SO:0001583	missense	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146066910G>A	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.418G>A	8.37:g.146066910G>A	ENSP00000432724:p.Gly140Arg					ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.G140R|ZNF7_ENST00000544249.1_Missense_Mutation_p.G44R|ZNF7_ENST00000446747.2_Missense_Mutation_p.G151R	p.G140R			P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	658	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	140					B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	c.418G>A	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	5.662	0.306780	0.10733	.	.	ENSG00000147789	ENST00000532777;ENST00000325241;ENST00000446747;ENST00000544249;ENST00000527218;ENST00000528372	T;T;T;T;T;T	0.10477	7.26;3.44;3.43;2.87;5.72;3.44	4.36	1.38	0.22167	.	0.953194	0.08567	N	0.926634	T	0.06872	0.0175	L	0.27053	0.805	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.04013	0.001;0.001	T	0.46735	-0.9170	10	0.13853	T	0.58	-0.4254	5.5417	0.17041	0.4162:0.0:0.5838:0.0	.	151;140	B4DT08;P17097	.;ZNF7_HUMAN	R	140;140;151;44;139;140	ENSP00000432641:G140R;ENSP00000320627:G140R;ENSP00000393260:G151R;ENSP00000439424:G44R;ENSP00000433656:G139R;ENSP00000432724:G140R	ENSP00000320627:G140R	G	+	1	0	ZNF7	146037714	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.336000	0.33850	0.058000	0.16222	0.462000	0.41574	GGG		0.507	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		5	150	0	0	0	1	0	5	150				
SGSM3	27352	broad.mit.edu	37	22	40802485	40802485	+	Missense_Mutation	SNP	A	A	G			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr22:40802485A>G	ENST00000248929.9	+	10	1193	c.1004A>G	c.(1003-1005)aAc>aGc	p.N335S	SGSM3_ENST00000454798.2_Missense_Mutation_p.N268S	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCCATCTTCAACACGCTATCG	0.627																																						ENST00000248929.9																			0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1003-1005)aAc>aGc		small G protein signaling modulator 3							50.0	34.0	39.0					22																	40802485		2203	4300	6503	SO:0001583	missense	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40802485A>G	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1004A>G	22.37:g.40802485A>G	ENSP00000248929:p.Asn335Ser					SGSM3_ENST00000454798.2_Missense_Mutation_p.N268S	p.N335S	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			10	1193	+			335						Missense_Mutation	SNP	ENST00000248929.9	37	c.1004A>G	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495705	0.85069	.	.	ENSG00000100359	ENST00000248929;ENST00000545416;ENST00000454798	T;T	0.21361	2.01;2.01	5.57	5.57	0.84162	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	M	0.75615	2.305	0.80722	D	1	D;D;P;B	0.61697	0.99;0.99;0.699;0.369	P;P;B;B	0.57620	0.824;0.824;0.237;0.082	T	0.30563	-0.9974	10	0.45353	T	0.12	.	15.7234	0.77732	1.0:0.0:0.0:0.0	.	272;268;335;335	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	S	335;278;268	ENSP00000248929:N335S;ENSP00000390998:N268S	ENSP00000248929:N335S	N	+	2	0	SGSM3	39132431	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	8.895000	0.92512	2.120000	0.65058	0.383000	0.25322	AAC		0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		5	36	0	0	0	1	0	5	36				
TCTN2	79867	broad.mit.edu	37	12	124171429	124171429	+	Missense_Mutation	SNP	C	C	A	rs552564996		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr12:124171429C>A	ENST00000303372.5	+	6	739	c.611C>A	c.(610-612)aCc>aAc	p.T204N	TCTN2_ENST00000426174.2_Missense_Mutation_p.T203N	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	204					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCCTGCTTCACCGGCGTGTTT	0.527																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(610-612)aCc>aAc		tectonic family member 2							224.0	180.0	195.0					12																	124171429		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171429C>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.611C>A	12.37:g.124171429C>A	ENSP00000304941:p.Thr204Asn					TCTN2_ENST00000426174.2_Missense_Mutation_p.T203N	p.T204N	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	739	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		204					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.611C>A	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982958	0.34942	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.82984	-1.67;-1.67	5.65	4.76	0.60689	Domain of unknown function DUF1619 (1);	0.823596	0.10849	N	0.627393	D	0.84009	0.5378	M	0.65975	2.015	0.09310	N	1	P;P	0.39624	0.681;0.681	P;P	0.44860	0.462;0.462	T	0.71642	-0.4531	10	0.22706	T	0.39	-14.4698	11.9009	0.52682	0.1207:0.6185:0.2608:0.0	.	203;204	A8K7Y8;Q96GX1	.;TECT2_HUMAN	N	203;204	ENSP00000395171:T203N;ENSP00000304941:T204N	ENSP00000304941:T204N	T	+	2	0	TCTN2	122737382	0.001000	0.12720	0.010000	0.14722	0.104000	0.19210	1.439000	0.35013	1.356000	0.45884	0.644000	0.83932	ACC		0.527	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		54	78	1	0	1.13205e-32	1	1.2797e-32	54	78				
PAPLN	89932	broad.mit.edu	37	14	73719446	73719446	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:73719446C>T	ENST00000554301.1	+	10	1220	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C|PAPLN_ENST00000381166.3_Missense_Mutation_p.R353C|PAPLN_ENST00000427855.1_Missense_Mutation_p.R353C|PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	353	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGCTGACCGGCGTTCCTGCAA	0.632																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1057-1059)Cgt>Tgt		papilin, proteoglycan-like sulfated glycoprotein							80.0	82.0	81.0					14																	73719446		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73719446C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1057C>T	14.37:g.73719446C>T	ENSP00000451803:p.Arg353Cys					PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C|PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C|PAPLN_ENST00000554301.1_Missense_Mutation_p.R353C|PAPLN_ENST00000381166.3_Missense_Mutation_p.R353C	p.R353C			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	11	1159	+			353			TSP type-1 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1057C>T		.	.	.	.	.	.	.	.	.	.	C	15.94	2.980140	0.53827	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.22	5.22	0.72569	.	.	.	.	.	D	0.85423	0.5693	H	0.96720	3.87	0.52501	D	0.999959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.964;0.979;0.996	D	0.89823	0.3990	9	0.87932	D	0	.	13.7427	0.62857	0.1537:0.8463:0.0:0.0	.	353;353;326	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	C	326;353;353;353;353	ENSP00000345395:R326C;ENSP00000403403:R353C;ENSP00000370558:R353C;ENSP00000451803:R353C;ENSP00000451729:R353C	ENSP00000216658:R353C	R	+	1	0	PAPLN	72789199	1.000000	0.71417	0.045000	0.18777	0.139000	0.21198	3.680000	0.54641	2.427000	0.82271	0.462000	0.41574	CGT		0.632	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		50	99	0	0	0	1	0	50	99				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74929125	74929125	+	Splice_Site	SNP	C	C	T	rs201064243		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:74929125C>T	ENST00000370899.3	+	23	2352	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.A785V|TNNI3K_ENST00000370891.2_Splice_Site_p.A772V|TNNI3K_ENST00000326637.3_Splice_Site_p.A671V	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.A671E(1)									TGGTTTGCAGCGGCTGCGGCA	0.443																																						ENST00000370891.2																			1	Substitution - Missense(1)	p.A671E(1)	lung(1)	cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.e23-1		TNNI3 interacting kinase							140.0	138.0	139.0					1																	74929125		2203	4300	6503	SO:0001630	splice_region_variant	51086							g.chr1:74929125C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2315-1C>T	1.37:g.74929125C>T						TNNI3K_ENST00000326637.3_Splice_Site_p.A671_splice|FPGT-TNNI3K_ENST00000557284.1_Splice_Site_p.A772_splice|FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.A772_splice	p.A772_splice	NM_001112808.2	NP_001106279.1					23	2331	+									Splice_Site	SNP	ENST00000370899.3	37	c.2314_splice		.	.	.	.	.	.	.	.	.	.	C	19.01	3.743075	0.69418	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.91	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054457	0.64402	D	0.000001	T	0.79149	0.4397	N	0.17723	0.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.80238	-0.1465	9	.	.	.	.	14.5877	0.68339	0.0:0.9296:0.0:0.0704	.	671;772;772	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	V	772;772;772;671	ENSP00000359936:A772V;ENSP00000450895:A772V;ENSP00000359928:A772V;ENSP00000322251:A671V	.	A	+	2	0	RP11-653A5.2;AC093158.1	74701713	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.392000	0.59659	1.506000	0.48736	0.655000	0.94253	GCG		0.443	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		Missense_Mutation	8	181	0	0	0	1	0	8	181				
RASGEF1A	221002	broad.mit.edu	37	10	43696237	43696237	+	Missense_Mutation	SNP	G	G	A	rs144867552		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr10:43696237G>A	ENST00000395809.1	-	5	3065	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R195W|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R187W			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	187					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GCCGGTGGCCGGAGCTTCTCT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		19064	0.0		0.0	False		,,,				2504	0.001					ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(559-561)Cgg>Tgg		RasGEF domain family, member 1A		G	TRP/ARG	0,4406		0,0,2203	66.0	62.0	63.0		559	5.0	0.9	10	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASGEF1A	NM_145313.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	187/482	43696237	1,13005	2203	4300	6503	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43696237G>A	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.559C>T	10.37:g.43696237G>A	ENSP00000379154:p.Arg187Trp					RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R195W|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R187W	p.R187W			Q8N9B8	RGF1A_HUMAN			5	3065	-			187					Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.559C>T	CCDS7202.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.86|16.86	3.240520|3.240520	0.58995|0.58995	0.0|0.0	1.16E-4|1.16E-4	ENSG00000198915|ENSG00000198915	ENST00000374455|ENST00000374459;ENST00000395810;ENST00000395809	.|T;T;T	.|0.30714	.|1.52;1.52;1.52	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Ras guanine nucleotide exchange factor, domain (1);	.|0.080782	.|0.52532	.|D	.|0.000063	T|T	0.52468|0.52468	0.1736|0.1736	L|L	0.57536|0.57536	1.79|1.79	0.49798|0.49798	D|D	0.999827|0.999827	.|D;D	.|0.76494	.|0.998;0.999	.|P;D	.|0.67103	.|0.889;0.949	T|T	0.55121|0.55121	-0.8190|-0.8190	5|10	.|0.66056	.|D	.|0.02	.|.	18.4026|18.4026	0.90522|0.90522	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|187;195	.|Q8N9B8;Q8N9B8-2	.|RGF1A_HUMAN;.	L|W	88|195;187;187	.|ENSP00000363583:R195W;ENSP00000379155:R187W;ENSP00000379154:R187W	.|ENSP00000363583:R195W	P|R	-|-	2|1	0|2	RASGEF1A|RASGEF1A	43016243|43016243	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.265000|0.265000	0.26407|0.26407	4.753000|4.753000	0.62183|0.62183	2.333000|2.333000	0.79357|0.79357	0.455000|0.455000	0.32223|0.32223	CCG|CGG		0.637	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		16	54	0	0	0	1	0	16	54				
DNAH9	1770	broad.mit.edu	37	17	11833352	11833352	+	Missense_Mutation	SNP	A	A	G	rs547913025	byFrequency	TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:11833352A>G	ENST00000262442.4	+	63	12115	c.12047A>G	c.(12046-12048)aAt>aGt	p.N4016S	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000608377.1_Missense_Mutation_p.N328S|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4016	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGATCACCAATGAGCCCCCC	0.602													A|||	4	0.000798722	0.0008	0.0	5008	,	,		18794	0.0		0.0	False		,,,				2504	0.0031					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12046-12048)aAt>aGt		dynein, axonemal, heavy chain 9							73.0	59.0	64.0					17																	11833352		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11833352A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12047A>G	17.37:g.11833352A>G	ENSP00000262442:p.Asn4016Ser					DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000396001.2_Missense_Mutation_p.N328S	p.N4016S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	63	12115	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4016			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12047A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714682	0.48622	.	.	ENSG00000007174	ENST00000262442;ENST00000396001	T;T	0.10668	2.85;2.85	5.19	-0.857	0.10693	Dynein heavy chain (1);	0.133902	0.64402	N	0.000003	T	0.28400	0.0702	M	0.90145	3.09	0.37488	D	0.916281	B	0.34264	0.446	P	0.48227	0.571	T	0.30736	-0.9968	10	0.56958	D	0.05	.	11.8831	0.52586	0.6791:0.0:0.3209:0.0	.	4016	Q9NYC9	DYH9_HUMAN	S	4016;328	ENSP00000262442:N4016S;ENSP00000379323:N328S	ENSP00000262442:N4016S	N	+	2	0	DNAH9	11774077	0.889000	0.30405	0.103000	0.21229	0.928000	0.56348	1.906000	0.39887	-0.376000	0.07943	-1.366000	0.01203	AAT		0.602	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	48	0	0	0	1	0	3	48				
EP400	57634	broad.mit.edu	37	12	132466837	132466837	+	Silent	SNP	G	G	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr12:132466837G>T	ENST00000333577.4	+	6	1960	c.1851G>T	c.(1849-1851)ccG>ccT	p.P617P	EP400_ENST00000389562.2_Silent_p.P580P|EP400_ENST00000330386.6_Silent_p.P581P|EP400_ENST00000389561.2_Silent_p.P581P|EP400_ENST00000332482.4_Silent_p.P544P			Q96L91	EP400_HUMAN	E1A binding protein p400	617					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CACAGCAGCCGCAAGTGGTAG	0.657																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1849-1851)ccG>ccT		E1A binding protein p400							92.0	89.0	90.0					12																	132466837		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466837G>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1851G>T	12.37:g.132466837G>T						EP400_ENST00000389562.2_Silent_p.P580P|EP400_ENST00000389561.2_Silent_p.P581P|EP400_ENST00000332482.4_Silent_p.P544P|EP400_ENST00000330386.6_Silent_p.P581P	p.P617P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1960	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	617					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.1851G>T																																																																																					0.657	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		11	94	1	0	0.0135373	1	0.0140788	11	94				
EBI3	10148	broad.mit.edu	37	19	4231190	4231190	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr19:4231190C>T	ENST00000221847.5	+	2	123	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	24	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCAGGGCCCCCAGCAGC	0.642																																						ENST00000221847.5																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(70-72)Ccc>Tcc		Epstein-Barr virus induced 3							29.0	27.0	28.0					19																	4231190		2203	4300	6503	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4231190C>T	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"""Fibronectin type III domain containing"""	3129	protein-coding gene	gene with protein product	"""IL27 subunit"", ""IL35 subunit"""	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.70C>T	19.37:g.4231190C>T	ENSP00000221847:p.Pro24Ser						p.P24S	NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	2	123	+		Hepatocellular(1079;0.137)	24			Fibronectin type-III 1.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.70C>T	CCDS12123.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454017	0.26161	.	.	ENSG00000105246	ENST00000221847	T	0.21031	2.03	4.73	-4.73	0.03259	Fibronectin, type III (2);	43.633600	0.00166	N	0.000000	T	0.12305	0.0299	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.22452	-1.0216	10	0.21014	T	0.42	2.0661	5.6328	0.17520	0.0958:0.5669:0.1736:0.1637	.	24	Q14213	IL27B_HUMAN	S	24	ENSP00000221847:P24S	ENSP00000221847:P24S	P	+	1	0	EBI3	4182190	0.003000	0.15002	0.000000	0.03702	0.086000	0.17979	-0.794000	0.04584	-0.167000	0.10871	0.563000	0.77884	CCC		0.642	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			12	28	0	0	0	1	0	12	28				
SEMA6B	10501	broad.mit.edu	37	19	4543619	4543619	+	Silent	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr19:4543619C>T	ENST00000586582.1	-	17	2971	c.2661G>A	c.(2659-2661)gtG>gtA	p.V887V	SEMA6B_ENST00000301293.3_Silent_p.V887V|RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000586965.1_Intron	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	887					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCTAGGGCACGGGGGGCG	0.766																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2659-2661)gtG>gtA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							2.0	3.0	2.0					19																	4543619		983	2241	3224	SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4543619C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.2661G>A	19.37:g.4543619C>T						SEMA6B_ENST00000301293.3_Silent_p.V887V|SEMA6B_ENST00000586965.1_Intron	p.V887V	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2971	-		Hepatocellular(1079;0.137)	887					A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.2661G>A	CCDS12131.1																																																																																				0.766	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		3	9	0	0	0	1	0	3	9				
DSCAM	1826	broad.mit.edu	37	21	41719856	41719856	+	Silent	SNP	G	G	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr21:41719856G>T	ENST00000400454.1	-	6	1428	c.951C>A	c.(949-951)acC>acA	p.T317T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	317	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGGACTGATGGTGGCTTTCA	0.473																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(949-951)acC>acA		Down syndrome cell adhesion molecule							53.0	49.0	50.0					21																	41719856		1926	4153	6079	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719856G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.951C>A	21.37:g.41719856G>T							p.T317T	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			6	1428	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	317			Ig-like C2-type 4.		O60468	Silent	SNP	ENST00000400454.1	37	c.951C>A	CCDS42929.1																																																																																				0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	9	1	0	0.184627	1	0.188247	3	9				
GSK3B	2932	broad.mit.edu	37	3	119635000	119635000	+	Nonsense_Mutation	SNP	G	G	A	rs201787969		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr3:119635000G>A	ENST00000264235.8	-	5	1481	c.499C>T	c.(499-501)Cga>Tga	p.R167*	GSK3B_ENST00000316626.5_Nonsense_Mutation_p.R167*	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GCTAAACTTCGGAACAGCTGA	0.348																																						ENST00000264235.8																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.(499-501)Cga>Tga		glycogen synthase kinase 3 beta	Lithium(DB01356)						81.0	84.0	83.0					3																	119635000		2203	4300	6503	SO:0001587	stop_gained	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119635000G>A	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.499C>T	3.37:g.119635000G>A	ENSP00000264235:p.Arg167*					GSK3B_ENST00000316626.5_Nonsense_Mutation_p.R167*	p.R167*	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	5	1481	-			167			Protein kinase.		D3DN89|Q9BWH3|Q9UL47	Nonsense_Mutation	SNP	ENST00000264235.8	37	c.499C>T	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	G	37	6.481761	0.97603	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	.	.	.	4.89	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0915	13.4517	0.61174	0.0:0.0:0.6701:0.3299	.	.	.	.	X	167	.	ENSP00000264235:R167X	R	-	1	2	GSK3B	121117690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.621000	0.54210	0.684000	0.31448	0.563000	0.77884	CGA		0.348	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			20	45	0	0	0	1	0	20	45				
FAT3	120114	broad.mit.edu	37	11	92568223	92568223	+	Silent	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr11:92568223C>T	ENST00000298047.6	+	14	10076	c.10059C>T	c.(10057-10059)gaC>gaT	p.D3353D	FAT3_ENST00000525166.1_Silent_p.D3203D|FAT3_ENST00000409404.2_Silent_p.D3353D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3353	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAGTGAAGACGCCTTGGTGG	0.488										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10057-10059)gaC>gaT		FAT atypical cadherin 3							49.0	49.0	49.0					11																	92568223		1937	4145	6082	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568223C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10059C>T	11.37:g.92568223C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.D3353D|FAT3_ENST00000525166.1_Silent_p.D3203D	p.D3353D			Q8TDW7	FAT3_HUMAN			14	10076	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3353			Cadherin 31.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.10059C>T																																																																																					0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	19	0	0	0	1	0	4	19				
FAM53A	152877	broad.mit.edu	37	4	1643058	1643058	+	Missense_Mutation	SNP	G	G	A	rs565614356		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr4:1643058G>A	ENST00000308132.6	-	5	1351	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	FAM53A_ENST00000489363.1_3'UTR|FAM53A_ENST00000472884.2_Missense_Mutation_p.R387C|FAM53A_ENST00000461064.1_Missense_Mutation_p.R387C	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	387						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			AGCTCCCAGCGGGCCCGGGGG	0.701													g|||	1	0.000199681	0.0	0.0	5008	,	,		14512	0.0		0.0	False		,,,				2504	0.001					ENST00000308132.6																			0				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1159-1161)Cgc>Tgc		family with sequence similarity 53, member A							25.0	30.0	28.0					4																	1643058		2203	4298	6501	SO:0001583	missense	152877					nucleus		g.chr4:1643058G>A	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.1159C>T	4.37:g.1643058G>A	ENSP00000310057:p.Arg387Cys					FAM53A_ENST00000461064.1_Missense_Mutation_p.R387C|FAM53A_ENST00000472884.2_Missense_Mutation_p.R387C|FAM53A_ENST00000489363.1_3'UTR	p.R387C	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		5	1351	-		all_epithelial(65;0.206)|Breast(71;0.212)	387					Q6ZUL5	Missense_Mutation	SNP	ENST00000308132.6	37	c.1159C>T	CCDS33939.1	.	.	.	.	.	.	.	.	.	.	g	11.09	1.537839	0.27475	.	.	ENSG00000174137	ENST00000308132;ENST00000461064;ENST00000472884	T;T;T	0.42131	0.98;0.98;0.98	3.75	-3.62	0.04543	.	0.569006	0.15025	N	0.284762	T	0.18383	0.0441	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08006	-1.0743	10	0.52906	T	0.07	-10.3379	5.9003	0.18962	0.5632:0.291:0.1458:0.0	.	387	Q6NSI3	FA53A_HUMAN	C	387	ENSP00000310057:R387C;ENSP00000418243:R387C;ENSP00000426260:R387C	ENSP00000310057:R387C	R	-	1	0	FAM53A	1612874	0.992000	0.36948	0.000000	0.03702	0.003000	0.03518	1.380000	0.34351	-0.791000	0.04486	-0.352000	0.07741	CGC		0.701	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622		4	67	0	0	0	1	0	4	67				
KCNK10	54207	broad.mit.edu	37	14	88658679	88658679	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:88658679C>T	ENST00000340700.5	-	5	1193	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	KCNK10_ENST00000312350.5_Missense_Mutation_p.V253M|KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	248					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGGATCGTCACAAACACAATG	0.498																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(742-744)Gtg>Atg		potassium channel, subfamily K, member 10							200.0	182.0	188.0					14																	88658679		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88658679C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.742G>A	14.37:g.88658679C>T	ENSP00000343104:p.Val248Met					KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M|KCNK10_ENST00000312350.5_Missense_Mutation_p.V253M	p.V248M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			5	1193	-			248					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.742G>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079309	0.94050	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.34667	1.35;1.35;1.35	5.89	5.89	0.94794	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.97110	1.0;0.999;0.949	T	0.60840	-0.7183	10	0.62326	D	0.03	.	20.248	0.98401	0.0:1.0:0.0:0.0	.	248;253;253	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	M	248;253;253	ENSP00000343104:V248M;ENSP00000310568:V253M;ENSP00000312811:V253M	ENSP00000310568:V253M	V	-	1	0	KCNK10	87728432	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.790000	0.95986	0.655000	0.94253	GTG		0.498	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		40	96	0	0	0	1	0	40	96				
MRPL1	65008	broad.mit.edu	37	4	78815325	78815325	+	Silent	SNP	C	C	T	rs144344573		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr4:78815325C>T	ENST00000315567.8	+	6	920	c.591C>T	c.(589-591)taC>taT	p.Y197Y	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	197					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CAGACTTTTACGTAGCTGTTC	0.308													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16935	0.0		0.0	False		,,,				2504	0.0					ENST00000315567.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.(589-591)taC>taT		mitochondrial ribosomal protein L1		C		13,4393	20.2+/-43.8	0,13,2190	94.0	109.0	104.0		591	4.3	1.0	4	dbSNP_134	104	0,8598		0,0,4299	no	coding-synonymous	MRPL1	NM_020236.3		0,13,6489	TT,TC,CC		0.0,0.2951,0.1		197/326	78815325	13,12991	2203	4299	6502	SO:0001819	synonymous_variant	65008						RNA binding	g.chr4:78815325C>T	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.591C>T	4.37:g.78815325C>T						MRPL1_ENST00000506674.1_3'UTR	p.Y197Y	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN			6	920	+			197					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Silent	SNP	ENST00000315567.8	37	c.591C>T	CCDS3583.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.919	-0.448765	0.04572	0.002951	0.0	ENSG00000169288	ENST00000502384	.	.	.	5.49	4.3	0.51218	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55302	-0.8162	4	.	.	.	-13.6677	8.3783	0.32455	0.0:0.0896:0.0:0.9104	.	.	.	.	C	151	.	.	R	+	1	0	MRPL1	79034349	0.999000	0.42202	0.996000	0.52242	0.392000	0.30506	0.832000	0.27490	1.033000	0.39918	-0.247000	0.11927	CGT		0.308	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		12	68	0	0	0	1	0	12	68				
TSPEAR	54084	broad.mit.edu	37	21	45953635	45953635	+	Missense_Mutation	SNP	T	T	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr21:45953635T>A	ENST00000323084.4	-	3	540	c.475A>T	c.(475-477)Aca>Tca	p.T159S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.T91S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	159	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGACCAGTGTGTGCCAGCGG	0.692																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(475-477)Aca>Tca		thrombospondin-type laminin G domain and EAR repeats							28.0	28.0	28.0					21																	45953635		2195	4287	6482	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45953635T>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.475A>T	21.37:g.45953635T>A	ENSP00000321987:p.Thr159Ser					TSPEAR_ENST00000397916.1_Missense_Mutation_p.T91S	p.T159S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			3	540	-			159			TSP N-terminal.			Missense_Mutation	SNP	ENST00000323084.4	37	c.475A>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	t	13.98	2.398789	0.42512	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.01998	4.51;4.51	4.99	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.103078	0.64402	D	0.000003	T	0.03263	0.0095	M	0.67953	2.075	0.58432	D	0.99999	P	0.45474	0.859	B	0.39840	0.311	T	0.57388	-0.7820	10	0.16420	T	0.52	10.8461	10.5496	0.45081	0.0:0.0772:0.0:0.9228	.	159	Q8WU66	TSEAR_HUMAN	S	159;91;159	ENSP00000321987:T159S;ENSP00000381012:T91S	ENSP00000321987:T159S	T	-	1	0	TSPEAR	44778063	1.000000	0.71417	0.993000	0.49108	0.058000	0.15608	5.516000	0.67055	0.726000	0.32339	0.533000	0.62120	ACA		0.692	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		15	31	0	0	0	1	0	15	31				
ADAM21P1	145241	broad.mit.edu	37	14	70713623	70713623	+	RNA	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:70713623T>C	ENST00000530196.1	-	0	895					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CAAAATTATGTAAGTACCTAA	0.343																																						ENST00000530196.1																			0																																																			0							g.chr14:70713623T>C			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713623T>C								NR_003951.1						0	895	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.343	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		25	25	0	0	0	1	0	25	25				
CCDC141	285025	broad.mit.edu	37	2	179702244	179702244	+	Silent	SNP	C	C	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:179702244C>A	ENST00000420890.2	-	23	3819	c.3702G>T	c.(3700-3702)gtG>gtT	p.V1234V	CCDC141_ENST00000295723.5_Silent_p.V659V|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1234										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAGGCTCTTCCACCTCCATGT	0.572																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(3700-3702)gtG>gtT		coiled-coil domain containing 141							63.0	63.0	63.0					2																	179702244		2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179702244C>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3702G>T	2.37:g.179702244C>A						CCDC141_ENST00000295723.5_Silent_p.V659V|CCDC141_ENST00000480419.1_5'UTR	p.V1234V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	3819	-			659					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.3702G>T																																																																																					0.572	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		3	47	1	0	1	1	1	3	47				
EXOSC10	5394	broad.mit.edu	37	1	11137678	11137678	+	Missense_Mutation	SNP	C	C	T	rs530179972		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:11137678C>T	ENST00000376936.4	-	15	1829	c.1780G>A	c.(1780-1782)Gga>Aga	p.G594R	EXOSC10_ENST00000304457.7_Missense_Mutation_p.G594R|EXOSC10_ENST00000544779.1_Missense_Mutation_p.G594R	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	594					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGCAGCGGTCCGCTCTTCTTC	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17799	0.0		0.0	False		,,,				2504	0.0				Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1780-1782)Gga>Aga		exosome component 10							77.0	74.0	75.0					1																	11137678		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11137678C>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1780G>A	1.37:g.11137678C>T	ENSP00000366135:p.Gly594Arg					EXOSC10_ENST00000304457.7_Missense_Mutation_p.G594R|EXOSC10_ENST00000376936.4_Missense_Mutation_p.G594R	p.G594R			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	15	1785	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	594					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.1780G>A	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	9.444	1.088930	0.20390	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	4.93	3.01	0.34805	HRDC-like (1);	0.436541	0.26210	N	0.025689	T	0.28200	0.0696	L	0.31926	0.97	0.09310	N	1	B;B	0.13145	0.006;0.007	B;B	0.12156	0.007;0.003	T	0.15838	-1.0423	9	0.12766	T	0.61	-20.8616	10.9412	0.47275	0.0:0.7779:0.0:0.2221	.	594;594	Q01780-2;Q01780	.;EXOSX_HUMAN	R	594	.	ENSP00000307307:G594R	G	-	1	0	EXOSC10	11060265	0.016000	0.18221	0.041000	0.18516	0.505000	0.33919	0.716000	0.25836	1.192000	0.43071	0.563000	0.77884	GGA		0.542	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		6	62	0	0	0	1	0	6	62				
CRP	1401	broad.mit.edu	37	1	159683405	159683405	+	Silent	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:159683405G>A	ENST00000255030.5	-	2	688	c.585C>T	c.(583-585)ggC>ggT	p.G195G	CRP_ENST00000368111.1_Silent_p.G73G|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Silent_p.G73G|CRP_ENST00000437342.1_Silent_p.G17G|CRP_ENST00000343919.2_Silent_p.G73G|CRP_ENST00000473196.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	195	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	TGAAGGGCCCGCCAAGATAGA	0.532																																						ENST00000255030.5																			0				breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22						c.(583-585)ggC>ggT		C-reactive protein, pentraxin-related	Atorvastatin(DB01076)|Bezafibrate(DB01393)						87.0	88.0	88.0					1																	159683405		2203	4300	6503	SO:0001819	synonymous_variant	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683405G>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.585C>T	1.37:g.159683405G>A						CRP_ENST00000368110.1_Silent_p.G73G|CRP_ENST00000343919.2_Silent_p.G73G|CRP_ENST00000437342.1_Silent_p.G17G|CRP_ENST00000368111.1_Silent_p.G73G|CRP_ENST00000368112.1_Intron|CRP_ENST00000473196.1_5'UTR	p.G195G	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN			2	688	-	all_hematologic(112;0.0429)		195			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Silent	SNP	ENST00000255030.5	37	c.585C>T	CCDS30911.1																																																																																				0.532	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		21	82	0	0	0	1	0	21	82				
GRM1	2911	broad.mit.edu	37	6	146480672	146480672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr6:146480672C>T	ENST00000282753.1	+	2	1124	c.889C>T	c.(889-891)Cga>Tga	p.R297*	GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000392299.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	297					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R297*(3)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CATGACAGTGCGAGGACTCCT	0.567																																						ENST00000392299.2																			3	Substitution - Nonsense(3)	p.R297*(3)	prostate(2)|breast(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(889-891)Cga>Tga		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						85.0	80.0	82.0					6																	146480672		2203	4300	6503	SO:0001587	stop_gained	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480672C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.889C>T	6.37:g.146480672C>T	ENSP00000282753:p.Arg297*					GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000282753.1_Nonsense_Mutation_p.R297*	p.R297*			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1359	+		Ovarian(120;0.0387)	297					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Nonsense_Mutation	SNP	ENST00000282753.1	37	c.889C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	39	7.608075	0.98387	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	.	.	.	5.32	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8156	0.52209	0.5982:0.4017:0.0:0.0	.	.	.	.	X	297	.	ENSP00000282753:R297X	R	+	1	2	GRM1	146522365	1.000000	0.71417	0.791000	0.31998	0.873000	0.50193	3.908000	0.56355	1.243000	0.43853	0.655000	0.94253	CGA		0.567	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		12	27	0	0	0	1	0	12	27				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	26	0	0	0	1	0	4	26				
SDK1	221935	broad.mit.edu	37	7	4167093	4167093	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:4167093G>A	ENST00000404826.2	+	26	4043	c.3904G>A	c.(3904-3906)Gaa>Aaa	p.E1302K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1302K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1302	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATCCGTGCCGGAACAGGACCA	0.537																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3904-3906)Gaa>Aaa		sidekick cell adhesion molecule 1							136.0	123.0	127.0					7																	4167093		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4167093G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3904G>A	7.37:g.4167093G>A	ENSP00000385899:p.Glu1302Lys					SDK1_ENST00000389531.3_Missense_Mutation_p.E1302K	p.E1302K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	26	4043	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1302			Fibronectin type-III 7.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3904G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300136	0.40694	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.61392	0.11;0.13	5.88	5.0	0.66597	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.57227	0.2039	N	0.24115	0.695	0.51482	D	0.999921	D;P	0.54397	0.966;0.941	P;P	0.59115	0.852;0.577	T	0.54043	-0.8352	10	0.25751	T	0.34	.	13.0846	0.59133	0.0737:0.0:0.9263:0.0	.	1302;1302	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	K	1302	ENSP00000385899:E1302K;ENSP00000374182:E1302K	ENSP00000374182:E1302K	E	+	1	0	SDK1	4133619	1.000000	0.71417	0.471000	0.27229	0.272000	0.26649	5.620000	0.67736	1.489000	0.48450	0.650000	0.86243	GAA		0.537	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		9	120	0	0	0	1	0	9	120				
RNF216	54476	broad.mit.edu	37	7	5780784	5780784	+	Silent	SNP	A	A	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:5780784A>C	ENST00000425013.2	-	4	917	c.693T>G	c.(691-693)tcT>tcG	p.S231S	RNF216_ENST00000389902.3_Silent_p.S288S	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	231					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GCTGAGGAGAAGAGGGGCCTG	0.542																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(691-693)tcT>tcG		ring finger protein 216							72.0	74.0	73.0					7																	5780784		2203	4300	6503	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5780784A>C	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.693T>G	7.37:g.5780784A>C						RNF216_ENST00000389902.3_Silent_p.S288S	p.S231S	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	4	917	-		Ovarian(82;0.07)	231					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.693T>G	CCDS34595.1																																																																																				0.542	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		18	77	0	0	0	1	0	18	77				
ARHGEF5	7984	broad.mit.edu	37	7	144062353	144062353	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:144062353G>A	ENST00000056217.5	+	2	2765	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	864					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAGCAGGAGCACTCGGGGA	0.602																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2590-2592)aGc>aAc		Rho guanine nucleotide exchange factor (GEF) 5							77.0	88.0	84.0					7																	144062353		2202	4298	6500	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144062353G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2591G>A	7.37:g.144062353G>A	ENSP00000056217:p.Ser864Asn						p.S864N	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	2765	+	Melanoma(164;0.14)		864					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.2591G>A	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.22|11.22	1.574109|1.574109	0.28092|0.28092	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000474817|ENST00000056217	.|D	.|0.83075	.|-1.68	4.27|4.27	3.38|3.38	0.38709|0.38709	.|.	.|0.178441	.|0.33346	.|N	.|0.005010	T|T	0.79452|0.79452	0.4448|0.4448	L|L	0.36672|0.36672	1.1|1.1	0.54753|0.54753	D|D	0.999984|0.999984	.|D	.|0.54047	.|0.964	.|P	.|0.49561	.|0.615	T|T	0.79883|0.79883	-0.1615|-0.1615	5|10	.|0.87932	.|D	.|0	-15.6549|-15.6549	9.8457|9.8457	0.41026|0.41026	0.0:0.2343:0.7657:0.0|0.0:0.2343:0.7657:0.0	.|.	.|864	.|Q12774	.|ARHG5_HUMAN	T|N	118|864	.|ENSP00000056217:S864N	.|ENSP00000056217:S864N	A|S	+|+	1|2	0|0	ARHGEF5|ARHGEF5	143693286|143693286	0.614000|0.614000	0.27017|0.27017	0.663000|0.663000	0.29738|0.29738	0.012000|0.012000	0.07955|0.07955	2.245000|2.245000	0.43133|0.43133	0.999000|0.999000	0.39023|0.39023	-0.321000|-0.321000	0.08615|0.08615	GCA|AGC		0.602	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		4	123	0	0	0	1	0	4	123				
TM2D1	83941	broad.mit.edu	37	1	62189460	62189461	+	Splice_Site	INS	-	-	A	rs147863719		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:62189460_62189461insA	ENST00000606498.1	-	2	185		c.e2-2		TM2D1_ENST00000371180.2_Splice_Site|TM2D1_ENST00000371177.2_Splice_Site|TM2D1_ENST00000294613.5_Intron			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						CAAATATATGTAAAAAAAAAAG	0.302																																						ENST00000371177.2																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.e2-2		TM2 domain containing 1				125,3343		8,109,1617						5.0	1.0		dbSNP_134	54	57,7689		0,57,3816	no	splice-3	TM2D1	NM_032027.2		8,166,5433	A1A1,A1R,RR		0.7359,3.6044,1.623				182,11032				SO:0001630	splice_region_variant	83941				apoptosis			g.chr1:62189460_62189461insA	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.165-2->T	1.37:g.62189470_62189470dupA						TM2D1_ENST00000294613.5_Intron|TM2D1_ENST00000606498.1_Intron|TM2D1_ENST00000371180.2_Splice_Site				Q9BX74	TM2D1_HUMAN			2	177	-								A6NDA8	Splice_Site	INS	ENST00000606498.1	37																																																																																						0.302	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027	Intron	3	3						3	3	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62253580	62253580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:62253580delC	ENST00000371158.2	+	8	1118	c.1004delC	c.(1003-1005)accfs	p.T335fs	INADL_ENST00000316485.6_Frame_Shift_Del_p.T335fs	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	335					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATTTCAGTCACCCCCCCTGCC	0.502																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1003-1005)acfs		InaD-like (Drosophila)				0,4266		0,0,2133	94.0	83.0	87.0			2.8	0.2	1		86	3,8251		0,3,4124	no	frameshift	INADL	NM_176877.2		0,3,6257	A1A1,A1R,RR		0.0363,0.0,0.024			62253580	3,12517	2203	4300	6503	SO:0001589	frameshift_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62253580delC	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1004delC	1.37:g.62253580delC	ENSP00000360200:p.Thr335fs					INADL_ENST00000316485.6_Frame_Shift_Del_p.T335fs	p.T335fs	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			8	1118	+			335					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Frame_Shift_Del	DEL	ENST00000371158.2	37	c.1004delC	CCDS617.2																																																																																				0.502	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		7	137						7	137	---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		7	65						7	65	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86795841	86795851	+	Frame_Shift_Del	DEL	ATAAAAGGCTT	ATAAAAGGCTT	-			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:86795841_86795851delATAAAAGGCTT	ENST00000394703.5	+	6	715_725	c.152_162delATAAAAGGCTT	c.(151-162)cataaaaggcttfs	p.HKRL51fs	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000394702.3_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	51	Interaction with CCND2. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GAACCTCCACATAAAAGGCTTTGTTTGTCCT	0.365																																						ENST00000394703.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(151-162)cfs		cyclin D binding myb-like transcription factor 1																																				SO:0001589	frameshift_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86795841_86795851delATAAAAGGCTT	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.152_162delATAAAAGGCTT	7.37:g.86795841_86795851delATAAAAGGCTT	ENSP00000378193:p.His51fs					DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000394702.3_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs	p.HKRL51fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN			6	715_725	+	Esophageal squamous(14;0.0058)		51			Interaction with CCND2 (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Del	DEL	ENST00000394703.5	37	c.152_162delATAAAAGGCTT	CCDS5601.1																																																																																				0.365	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		8	42						8	42	---	---	---	---
ADPGK-AS1	100287559	broad.mit.edu	37	15	73089989	73089990	+	RNA	INS	-	-	G	rs397974221		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr15:73089989_73089990insG	ENST00000563592.1	+	0	2534					NR_040107.1				ADPGK antisense RNA 1																		GGGGGTGGGGTGGGGGGGGTGG	0.584																																						ENST00000563592.1																			0																																																			0							g.chr15:73089989_73089990insG	AK127877		15q24.1	2012-10-12	2012-08-15		ENSG00000260898	ENSG00000260898		"""Long non-coding RNAs"""	44144	non-coding RNA	RNA, long non-coding			"""ADPGK antisense RNA 1 (non-protein coding)"""				Standard	NR_040107		Approved		uc002avk.1		OTTHUMG00000173100		15.37:g.73089997_73089997dupG								NR_040107.1						0	2534	+									RNA	INS	ENST00000563592.1	37																																																																																						0.584	ADPGK-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000422136.1	NR_040107		4	2						4	2	---	---	---	---
C16orf74	404550	broad.mit.edu	37	16	85743879	85743881	+	In_Frame_Del	DEL	GCT	GCT	-	rs374238893		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr16:85743879_85743881delGCT	ENST00000284245.4	-	3	244_246	c.61_63delAGC	c.(61-63)agcdel	p.S21del	C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602583.1_In_Frame_Del_p.S9del	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	21																	CCTCGTCGTGGCTGCTGCTGCTG	0.635																																						ENST00000602583.1																			0											c.(25-27)del		chromosome 16 open reading frame 74																																				SO:0001651	inframe_deletion	404550							g.chr16:85743879_85743881delGCT	BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.61_63delAGC	16.37:g.85743888_85743890delGCT	ENSP00000284245:p.Ser21del					C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000284245.4_In_Frame_Del_p.S21del|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del	p.S9del			Q96GX8	CP074_HUMAN			1	575_577	-			21						In_Frame_Del	DEL	ENST00000284245.4	37	c.25_27delAGC	CCDS45540.1																																																																																				0.635	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467253.1	NM_206967		2	4						2	4	---	---	---	---
