#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
PMEL	6490	broad.mit.edu	37	12	56351416	56351416	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:56351416G>A	ENST00000548747.1	-	6	1333	c.671C>T	c.(670-672)gCc>gTc	p.A224V	PMEL_ENST00000548493.1_Missense_Mutation_p.A224V|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000449260.2_Missense_Mutation_p.A224V|PMEL_ENST00000539511.1_Missense_Mutation_p.A138V|PMEL_ENST00000536427.1_Missense_Mutation_p.A224V|PMEL_ENST00000550464.1_Missense_Mutation_p.A138V|PMEL_ENST00000360714.4_Missense_Mutation_p.A224V|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.A224V			P40967	PMEL_HUMAN	premelanosome protein	224					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCATCCAAGGCCCGCAACTG	0.577																																						ENST00000548747.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(670-672)gCc>gTc		premelanosome protein							84.0	86.0	86.0					12																	56351416		2203	4300	6503	SO:0001583	missense	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351416G>A	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.671C>T	12.37:g.56351416G>A	ENSP00000448828:p.Ala224Val					PMEL_ENST00000552882.1_Missense_Mutation_p.A224V|PMEL_ENST00000536427.1_Missense_Mutation_p.A224V|PMEL_ENST00000539511.1_Missense_Mutation_p.A138V|PMEL_ENST00000449260.2_Missense_Mutation_p.A224V|PMEL_ENST00000360714.4_Missense_Mutation_p.A224V|PMEL_ENST00000548493.1_Missense_Mutation_p.A224V|PMEL_ENST00000550464.1_Missense_Mutation_p.A138V|PMEL_ENST00000550447.1_Intron	p.A224V			P40967	PMEL_HUMAN			6	1333	-			224					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	ENST00000548747.1	37	c.671C>T	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477342	0.84640	.	.	ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000547137;ENST00000546543	T;T;T;T;T;T;T;T;T;T	0.15952	3.07;3.07;3.1;3.07;3.07;3.07;2.71;3.1;2.38;3.05	5.6	4.65	0.58169	.	0.100657	0.43919	D	0.000512	T	0.30916	0.0780	L	0.45581	1.43	0.39186	D	0.962867	D;D;D	0.76494	0.98;0.999;0.999	P;D;D	0.71656	0.69;0.974;0.936	T	0.00829	-1.1549	10	0.35671	T	0.21	-9.5111	11.7002	0.51567	0.0:0.0:0.6888:0.3112	.	138;224;224	P40967-3;P40967-2;P40967	.;.;PMEL_HUMAN	V	224;224;138;224;224;224;224;138;170;175	ENSP00000402758:A224V;ENSP00000449690:A224V;ENSP00000450036:A138V;ENSP00000448828:A224V;ENSP00000447374:A224V;ENSP00000353940:A224V;ENSP00000438695:A224V;ENSP00000445005:A138V;ENSP00000448849:A170V;ENSP00000446662:A175V	ENSP00000353940:A224V	A	-	2	0	PMEL	54637683	0.948000	0.32251	1.000000	0.80357	0.943000	0.58893	1.144000	0.31565	2.797000	0.96272	0.655000	0.94253	GCC		0.577	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1	NM_006928		79	98	0	0	0	1	0	79	98				
FBL	2091	broad.mit.edu	37	19	40331067	40331067	+	Silent	SNP	C	C	T	rs369326013		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:40331067C>T	ENST00000221801.3	-	3	383	c.270G>A	c.(268-270)ccG>ccA	p.P90P	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	90					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATGCCGATGCGGCTCCACCA	0.622																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(268-270)ccG>ccA		fibrillarin		C		0,4406		0,0,2203	279.0	242.0	255.0		270	-6.6	0.8	19		255	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBL	NM_001436.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		90/322	40331067	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331067C>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.270G>A	19.37:g.40331067C>T							p.P90P	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	3	383	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	90					B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	c.270G>A	CCDS12545.1																																																																																				0.622	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		5	535	0	0	0	1	0	5	535				
PLPPR1	54886	broad.mit.edu	37	9	104048420	104048420	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:104048420A>T	ENST00000374874.3	+	4	726	c.287A>T	c.(286-288)aAa>aTa	p.K96I	LPPR1_ENST00000395056.2_Missense_Mutation_p.K96I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		96					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										TATTTCATAAAATCAACAAGA	0.388																																						ENST00000374874.3																			0											c.(286-288)aAa>aTa									99.0	97.0	97.0					9																	104048420		2203	4300	6503	SO:0001583	missense	0					integral to membrane	catalytic activity	g.chr9:104048420A>T																												ENST00000374874.3:c.287A>T	9.37:g.104048420A>T	ENSP00000364008:p.Lys96Ile					LPPR1_ENST00000395056.2_Missense_Mutation_p.K96I	p.K96I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			4	726	+			96					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.287A>T	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840647	0.91197	.	.	ENSG00000148123	ENST00000374874;ENST00000456287;ENST00000374871;ENST00000395056	T;T	0.34667	1.35;1.35	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.60455	1.87	0.58432	D	0.999999	P;D	0.54964	0.93;0.969	P;P	0.50860	0.573;0.652	T	0.39820	-0.9595	10	0.44086	T	0.13	-3.4247	15.5651	0.76284	1.0:0.0:0.0:0.0	.	80;96	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	I	96	ENSP00000364008:K96I;ENSP00000378496:K96I	ENSP00000364005:K96I	K	+	2	0	RP11-35N6.1	103088241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.710000	0.91388	2.258000	0.74832	0.533000	0.62120	AAA		0.388	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			52	149	0	0	0	1	0	52	149				
MUC4	4585	broad.mit.edu	37	3	195505814	195505814	+	Missense_Mutation	SNP	C	C	T	rs199819876	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:195505814C>T	ENST00000463781.3	-	2	13096	c.12637G>A	c.(12637-12639)Gac>Aac	p.D4213N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D4213N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGTGTCGGTGACAGGA	0.597													.|||	95	0.0189696	0.0151	0.0187	5008	,	,		14244	0.0169		0.0308	False		,,,				2504	0.0143					ENST00000463781.3																			1	Substitution - Missense(1)	p.D4213N(1)	endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12637-12639)Gac>Aac		mucin 4, cell surface associated							24.0	21.0	22.0					3																	195505814		690	1577	2267	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505814C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12637G>A	3.37:g.195505814C>T	ENSP00000417498:p.Asp4213Asn					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N|MUC4_ENST00000346145.4_Intron	p.D4213N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13096	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	970					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12637G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.070	-1.204716	0.01568	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.47;1.49	.	.	.	.	.	.	.	.	T	0.12860	0.0312	N	0.14661	0.345	0.09310	N	1	B	0.17268	0.021	B	0.06405	0.002	T	0.24083	-1.0170	7	.	.	.	.	4.5334	0.12017	0.0:0.668:0.0:0.332	.	4085	E7ESK3	.	N	4213	ENSP00000417498:D4213N;ENSP00000420243:D4213N	.	D	-	1	0	MUC4	196990593	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-1.791000	0.01261	-1.780000	0.00649	GAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	15	0	0	0	1	0	3	15				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	85	0	0	0	1	0	4	85				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	24	0	0	0	1	0	3	24				
KIF13B	23303	broad.mit.edu	37	8	28956707	28956707	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:28956707T>C	ENST00000524189.1	-	36	4305	c.4267A>G	c.(4267-4269)Ata>Gta	p.I1423V	KIF13B_ENST00000404075.3_5'UTR	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1423					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCAGGAGCTATTCCTCTGGAA	0.428																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(4267-4269)Ata>Gta		kinesin family member 13B							148.0	151.0	150.0					8																	28956707		1845	4083	5928	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28956707T>C	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.4267A>G	8.37:g.28956707T>C	ENSP00000427900:p.Ile1423Val					KIF13B_ENST00000404075.3_5'UTR	p.I1423V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	36	4305	-		Ovarian(32;0.000536)	1423					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.4267A>G	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464057	0.26335	.	.	ENSG00000197892	ENST00000524189;ENST00000523130	T;T	0.79454	-0.86;-1.27	5.4	-8.17	0.01057	.	1.722310	0.02947	N	0.141214	T	0.50497	0.1619	N	0.02011	-0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.48317	-0.9046	10	0.45353	T	0.12	.	10.3744	0.44073	0.0:0.5379:0.2219:0.2402	.	1423	F8VPJ2	.	V	1423;36	ENSP00000427900:I1423V;ENSP00000429106:I36V	ENSP00000429106:I36V	I	-	1	0	KIF13B	29012626	0.002000	0.14202	0.000000	0.03702	0.047000	0.14425	-0.241000	0.08940	-1.242000	0.02523	-0.408000	0.06270	ATA		0.428	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			137	80	0	0	0	1	0	137	80				
GPR6	2830	broad.mit.edu	37	6	110300977	110300977	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:110300977C>T	ENST00000275169.3	+	1	680	c.662C>T	c.(661-663)cCg>cTg	p.P221L	GPR6_ENST00000414000.2_Missense_Mutation_p.P236L	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	221					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GTGGTGCGCCCGCTGGCGCGC	0.697																																						ENST00000414000.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(706-708)cCg>cTg		G protein-coupled receptor 6							11.0	11.0	11.0					6																	110300977		2187	4255	6442	SO:0001583	missense	0					integral to plasma membrane		g.chr6:110300977C>T		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.662C>T	6.37:g.110300977C>T	ENSP00000275169:p.Pro221Leu					GPR6_ENST00000275169.3_Missense_Mutation_p.P221L	p.P236L			P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	3	946	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	221					B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.707C>T	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525571	0.85600	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.39229	1.09;1.09	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72852	-0.4167	10	0.87932	D	0	.	18.0945	0.89485	0.0:1.0:0.0:0.0	.	236;221	B4DHS9;P46095	.;GPR6_HUMAN	L	221;236;221	ENSP00000406986:P236L;ENSP00000275169:P221L	ENSP00000275169:P221L	P	+	2	0	GPR6	110407670	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.647000	0.83462	2.504000	0.84457	0.563000	0.77884	CCG		0.697	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			13	16	0	0	0	1	0	13	16				
FTO	79068	broad.mit.edu	37	16	53859939	53859939	+	Missense_Mutation	SNP	G	G	A	rs139577103		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:53859939G>A	ENST00000471389.1	+	3	509	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	96	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCGGTATCTCGCATCCTCATT	0.498																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(286-288)cGc>cAc		fat mass and obesity associated		G	HIS/ARG	0,4396		0,0,2198	97.0	86.0	90.0		287	5.5	1.0	16	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	missense	FTO	NM_001080432.2	29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	96/506	53859939	2,12994	2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53859939G>A	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.287G>A	16.37:g.53859939G>A	ENSP00000418823:p.Arg96His					FTO_ENST00000394647.3_Intron	p.R96H	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			3	509	+			96			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.287G>A	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373196	0.95923	0.0	2.33E-4	ENSG00000140718	ENST00000471389	D	0.85955	-2.05	5.46	5.46	0.80206	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92718	0.7685	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93263	0.6645	10	0.87932	D	0	-12.4496	19.3039	0.94153	0.0:0.0:1.0:0.0	.	96	Q9C0B1	FTO_HUMAN	H	96	ENSP00000418823:R96H	ENSP00000418823:R96H	R	+	2	0	FTO	52417440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.782000	0.91809	2.562000	0.86427	0.650000	0.86243	CGC		0.498	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		4	148	0	0	0	1	0	4	148				
SHANK1	50944	broad.mit.edu	37	19	51192618	51192618	+	Intron	SNP	G	G	A	rs546911564		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:51192618G>A	ENST00000293441.1	-	15	1983				SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.P15L|SHANK1_ENST00000359082.3_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCCCCACCCGGCAACCCAGA	0.572																																						ENST00000391813.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(43-45)cCg>cTg		SH3 and multiple ankyrin repeat domains 1																																				SO:0001627	intron_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192618G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1965-82C>T	19.37:g.51192618G>A						SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Intron	p.P15L			Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	43	-		all_neural(266;0.057)	1193					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.44C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	2.475	-0.321024	0.05386	.	.	ENSG00000161681	ENST00000391813	T	0.26067	1.76	1.75	-2.28	0.06826	.	.	.	.	.	T	0.11707	0.0285	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33574	-0.9863	7	.	.	.	.	4.6156	0.12424	0.5987:0.0:0.4013:0.0	.	15	Q9Y566-2	.	L	15	ENSP00000375689:P15L	.	P	-	2	0	SHANK1	55884430	0.000000	0.05858	0.017000	0.16124	0.067000	0.16453	-0.768000	0.04715	-0.303000	0.08856	-1.442000	0.01069	CCG		0.572	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		10	31	0	0	0	1	0	10	31				
DYSF	8291	broad.mit.edu	37	2	71709086	71709086	+	Silent	SNP	G	G	A	rs200957354		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:71709086G>A	ENST00000258104.3	+	3	499	c.222G>A	c.(220-222)acG>acA	p.T74T	DYSF_ENST00000413539.2_Silent_p.T74T|DYSF_ENST00000409744.1_Silent_p.T75T|DYSF_ENST00000409582.3_Silent_p.T74T|DYSF_ENST00000409762.1_Silent_p.T74T|DYSF_ENST00000410041.1_Silent_p.T75T|DYSF_ENST00000410020.3_Silent_p.T75T|DYSF_ENST00000429174.2_Silent_p.T74T|DYSF_ENST00000409366.1_Silent_p.T75T|DYSF_ENST00000409651.1_Silent_p.T75T|DYSF_ENST00000394120.2_Silent_p.T75T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	74	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCATGAGACGATGGGGAGGA	0.552																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(220-222)acG>acA		dysferlin		G	,,,,,,,,,,,,,	0,4406		0,0,2203	61.0	61.0	61.0		225,222,222,222,222,222,222,225,225,225,225,225,225,222	-8.4	0.3	2		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	,,,,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,,	75/2082,74/2067,74/2088,74/2102,74/2112,74/2098,74/2119,75/2113,75/2103,75/2089,75/2099,75/2068,75/2120,74/2081	71709086	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71709086G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.222G>A	2.37:g.71709086G>A						DYSF_ENST00000410041.1_Silent_p.T75T|DYSF_ENST00000409762.1_Silent_p.T74T|DYSF_ENST00000409651.1_Silent_p.T75T|DYSF_ENST00000409366.1_Silent_p.T75T|DYSF_ENST00000394120.2_Silent_p.T75T|DYSF_ENST00000409744.1_Silent_p.T75T|DYSF_ENST00000429174.2_Silent_p.T74T|DYSF_ENST00000413539.2_Silent_p.T74T|DYSF_ENST00000410020.3_Silent_p.T75T|DYSF_ENST00000409582.3_Silent_p.T74T	p.T74T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			3	499	+			74			C2 1.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.222G>A	CCDS1918.1																																																																																				0.552	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		22	24	0	0	0	1	0	22	24				
ZMYND19	116225	broad.mit.edu	37	9	140477531	140477531	+	Silent	SNP	C	C	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:140477531C>G	ENST00000298585.2	-	5	670	c.444G>C	c.(442-444)cgG>cgC	p.R148R		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	148						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CATTATAATACCGGGTCACAT	0.478																																						ENST00000298585.2																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(442-444)cgG>cgC		zinc finger, MYND-type containing 19							278.0	254.0	262.0					9																	140477531		2203	4300	6503	SO:0001819	synonymous_variant	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140477531C>G	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.444G>C	9.37:g.140477531C>G							p.R148R	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	5	670	-	all_cancers(76;0.106)		148					Q5T366	Silent	SNP	ENST00000298585.2	37	c.444G>C	CCDS7048.1																																																																																				0.478	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		202	298	0	0	0	1	0	202	298				
SPIN4	139886	broad.mit.edu	37	X	62570231	62570231	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:62570231G>A	ENST00000335144.3	-	1	987	c.468C>T	c.(466-468)taC>taT	p.Y156Y	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Silent_p.Y138Y	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	156					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GATCTTTCTCGTAGGTGATGT	0.448																																						ENST00000374884.2																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(412-414)taC>taT		spindlin family, member 4							138.0	132.0	134.0					X																	62570231		2045	4180	6225	SO:0001819	synonymous_variant	139886				gamete generation			g.chrX:62570231G>A	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.468C>T	X.37:g.62570231G>A						SPIN4_ENST00000335144.3_Silent_p.Y156Y|SPIN4-AS1_ENST00000451979.1_RNA	p.Y138Y			Q56A73	SPIN4_HUMAN			1	992	-			156					B3KX90|Q5JUL2	Silent	SNP	ENST00000335144.3	37	c.414C>T	CCDS43964.1																																																																																				0.448	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		6	234	0	0	0	1	0	6	234				
ATP12A	479	broad.mit.edu	37	13	25265131	25265131	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr13:25265131G>A	ENST00000381946.3	+	8	978	c.811G>A	c.(811-813)Ggc>Agc	p.G271S	ATP12A_ENST00000218548.6_Missense_Mutation_p.G277S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	271					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CACTGTCACCGGCATGGTTAT	0.562																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(829-831)Ggc>Agc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						156.0	142.0	146.0					13																	25265131		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25265131G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.811G>A	13.37:g.25265131G>A	ENSP00000371372:p.Gly271Ser					ATP12A_ENST00000381946.3_Missense_Mutation_p.G271S	p.G277S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	8	1162	+		Lung SC(185;0.0225)|Breast(139;0.077)	271					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.829G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260814	0.80246	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.91351	-2.83;-2.83	5.02	5.02	0.67125	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.145674	0.48286	N	0.000196	D	0.97161	0.9072	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.977	D	0.98380	1.0558	10	0.87932	D	0	.	15.8788	0.79185	0.0:0.0:1.0:0.0	.	277;271	P54707-2;P54707	.;AT12A_HUMAN	S	277;271	ENSP00000218548:G277S;ENSP00000371372:G271S	ENSP00000218548:G277S	G	+	1	0	ATP12A	24163131	1.000000	0.71417	0.977000	0.42913	0.398000	0.30690	9.380000	0.97202	2.600000	0.87896	0.462000	0.41574	GGC		0.562	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		4	252	0	0	0	1	0	4	252				
GPRIN2	9721	broad.mit.edu	37	10	47000104	47000104	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr10:47000104G>C	ENST00000374317.1	+	3	1497	c.1224G>C	c.(1222-1224)caG>caC	p.Q408H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.Q408H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	408										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGGCCATCCAGAAGCACCTGG	0.672																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(1222-1224)caG>caC		G protein regulated inducer of neurite outgrowth 2							122.0	98.0	106.0					10																	47000104		2203	4300	6503	SO:0001583	missense	9721							g.chr10:47000104G>C	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1224G>C	10.37:g.47000104G>C	ENSP00000363436:p.Gln408His					GPRIN2_ENST00000374317.1_Missense_Mutation_p.Q408H	p.Q408H			O60269	GRIN2_HUMAN			1	2179	+			408					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.1224G>C	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363690	0.61513	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.47177	0.85;0.85	4.85	4.85	0.62838	.	0.000000	0.39909	N	0.001234	T	0.67116	0.2859	M	0.80982	2.52	0.52501	D	0.999953	D	0.89917	1.0	D	0.91635	0.999	T	0.70876	-0.4753	10	0.87932	D	0	-15.0938	9.4844	0.38919	0.0979:0.0:0.9021:0.0	.	408	O60269	GRIN2_HUMAN	H	408	ENSP00000363436:Q408H;ENSP00000363433:Q408H	ENSP00000363433:Q408H	Q	+	3	2	GPRIN2	46420110	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.460000	0.60108	2.415000	0.81967	0.313000	0.20887	CAG		0.672	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		4	39	0	0	0	1	0	4	39				
HTR4	3360	broad.mit.edu	37	5	147830775	147830775	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:147830775G>A	ENST00000521530.1	-	6	1142	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000354217.2_Silent_p.D379D	NM_001040169.2	NP_001035259.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GGGATTCTGGGTCATTGTGTA	0.473																																					GBM(120;370 1604 14007 17804 41573)	ENST00000354217.2																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1135-1137)gaC>gaT		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						437.0	370.0	393.0					5																	147830775		2203	4300	6503	SO:0001819	synonymous_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147830775G>A	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000521530.1:c.1137C>T	5.37:g.147830775G>A						HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Silent_p.D379D|HTR4_ENST00000314512.6_3'UTR	p.D379D			Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1300	-			0					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	ENST00000521530.1	37	c.1137C>T	CCDS34270.1																																																																																				0.473	HTR4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374174.3	NM_000870		82	136	0	0	0	1	0	82	136				
ADCYAP1R1	117	broad.mit.edu	37	7	31124942	31124942	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:31124942G>A	ENST00000304166.4	+	9	843	c.554G>A	c.(553-555)cGc>cAc	p.R185H	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R164H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	185					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CACTGCACACGCAACTTCATC	0.542																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(553-555)cGc>cAc		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							189.0	148.0	162.0					7																	31124942		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31124942G>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.554G>A	7.37:g.31124942G>A	ENSP00000306620:p.Arg185His					ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R164H	p.R185H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			9	843	+			185					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.554G>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206555	0.95033	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.57273	1.22;0.41;1.22;1.22	5.7	5.7	0.88788	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	H	0.97131	3.945	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.87960	0.2729	10	0.87932	D	0	.	17.3409	0.87296	0.0:0.0:1.0:0.0	.	185;185;185;164;185	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	H	185;164;185;185	ENSP00000306620:R185H;ENSP00000387335:R164H;ENSP00000379514:R185H;ENSP00000386395:R185H	ENSP00000306620:R185H	R	+	2	0	ADCYAP1R1	31091467	1.000000	0.71417	0.868000	0.34077	0.959000	0.62525	9.845000	0.99498	2.688000	0.91661	0.655000	0.94253	CGC		0.542	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		5	407	0	0	0	1	0	5	407				
KLHL6	89857	broad.mit.edu	37	3	183273417	183273417	+	Missense_Mutation	SNP	C	C	T	rs376100820		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:183273417C>T	ENST00000341319.3	-	1	60	c.25G>A	c.(25-27)Gcc>Acc	p.A9T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	9					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.A9T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGGTCCAGGCGCCCCTTTGT	0.587																																						ENST00000341319.3																			1	Substitution - Missense(1)	p.A9T(1)	cervix(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(25-27)Gcc>Acc		kelch-like family member 6		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	69.0	76.0	74.0		25	-10.8	0.0	3		74	0,8600		0,0,4300	no	missense	KLHL6	NM_130446.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	9/622	183273417	1,13005	2203	4300	6503	SO:0001583	missense	89857							g.chr3:183273417C>T	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.25G>A	3.37:g.183273417C>T	ENSP00000341342:p.Ala9Thr						p.A9T	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		1	60	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		9					B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.25G>A	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	3.385	-0.125594	0.06795	2.27E-4	0.0	ENSG00000172578	ENST00000341319	T	0.73681	-0.77	5.54	-10.8	0.00216	.	.	.	.	.	T	0.43344	0.1243	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17992	-1.0351	9	0.21540	T	0.41	.	1.4112	0.02292	0.325:0.2718:0.0801:0.3231	.	9	Q8WZ60	KLHL6_HUMAN	T	9	ENSP00000341342:A9T	ENSP00000341342:A9T	A	-	1	0	KLHL6	184756111	0.000000	0.05858	0.005000	0.12908	0.183000	0.23260	-2.759000	0.00787	-1.823000	0.01210	-0.762000	0.03455	GCC		0.587	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		131	129	0	0	0	1	0	131	129				
GIGYF1	64599	broad.mit.edu	37	7	100284293	100284293	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:100284293G>A	ENST00000275732.5	-	7	1882	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	225					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAGCGCCAGCGGTCGCCGTCT	0.687																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(673-675)Cgc>Tgc		GRB10 interacting GYF protein 1							28.0	35.0	32.0					7																	100284293		2196	4284	6480	SO:0001583	missense	64599							g.chr7:100284293G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.673C>T	7.37:g.100284293G>A	ENSP00000275732:p.Arg225Cys					GIGYF1_ENST00000471340.2_Intron	p.R225C	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1882	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		225					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.673C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	19.82	3.897779	0.72639	.	.	ENSG00000146830	ENST00000275732	D	0.84298	-1.83	4.96	4.96	0.65561	.	0.255256	0.33309	N	0.005048	D	0.87462	0.6183	L	0.57536	1.79	0.49915	D	0.999836	D	0.76494	0.999	P	0.56474	0.799	D	0.87617	0.2507	10	0.59425	D	0.04	-15.8751	10.7376	0.46135	0.0:0.0:0.8103:0.1897	.	225	O75420	PERQ1_HUMAN	C	225	ENSP00000275732:R225C	ENSP00000275732:R225C	R	-	1	0	GIGYF1	100122229	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	1.448000	0.35112	2.571000	0.86741	0.563000	0.77884	CGC		0.687	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		56	212	0	0	0	1	0	56	212				
MUC5B	727897	broad.mit.edu	37	11	1248558	1248558	+	Silent	SNP	C	C	T	rs201462302		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:1248558C>T	ENST00000529681.1	+	6	655	c.597C>T	c.(595-597)taC>taT	p.Y199Y	MUC5B_ENST00000447027.1_Silent_p.Y199Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	199	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATCCCAAATACGCCAACCAGA	0.637													t|||	1	0.000199681	0.0	0.0	5008	,	,		13051	0.0		0.001	False		,,,				2504	0.0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(595-597)taC>taT		mucin 5B, oligomeric mucus/gel-forming		C		3,4003		0,3,2000	34.0	38.0	37.0		597	-2.4	0.6	11		37	1,8315		0,1,4157	no	coding-synonymous	MUC5B	NM_002458.2		0,4,6157	TT,TC,CC		0.012,0.0749,0.0325		199/5763	1248558	4,12318	2003	4158	6161	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1248558C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.597C>T	11.37:g.1248558C>T						MUC5B_ENST00000529681.1_Silent_p.Y199Y	p.Y199Y			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	6	655	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	199			VWFD 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.597C>T	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		9	19	0	0	0	1	0	9	19				
CUL4B	8450	broad.mit.edu	37	X	119677613	119677613	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:119677613T>A	ENST00000404115.3	-	10	1680	c.1279A>T	c.(1279-1281)Aga>Tga	p.R427*	CUL4B_ENST00000371322.5_Nonsense_Mutation_p.R409*|snoU13_ENST00000605987.1_RNA|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.R414*	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	427					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTAATAAGTCTGTCTGCTTCT	0.353																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1225-1227)Aga>Tga		cullin 4B							258.0	250.0	252.0					X																	119677613		2203	4300	6503	SO:0001587	stop_gained	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119677613T>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1279A>T	X.37:g.119677613T>A	ENSP00000384109:p.Arg427*					CUL4B_ENST00000404115.3_Nonsense_Mutation_p.R427*|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.R414*	p.R409*	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			8	1286	-			427					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Nonsense_Mutation	SNP	ENST00000404115.3	37	c.1225A>T	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	T	37	6.071781	0.97256	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	.	.	.	6.03	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.5176	10.2306	0.43253	0.0:0.0772:0.0:0.9228	.	.	.	.	X	409;414;427;231	.	.	R	-	1	2	CUL4B	119561641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.015000	0.57152	0.895000	0.36342	0.486000	0.48141	AGA		0.353	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		82	102	0	0	0	1	0	82	102				
LZTS1	11178	broad.mit.edu	37	8	20110916	20110916	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:20110916G>A	ENST00000381569.1	-	3	883	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	LZTS1_ENST00000522290.1_Missense_Mutation_p.R176W|LZTS1_ENST00000265801.6_Missense_Mutation_p.R176W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	176					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATGGAGTTCCGGCCGGAGTCT	0.672																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(526-528)Cgg>Tgg		leucine zipper, putative tumor suppressor 1							43.0	47.0	46.0					8																	20110916		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110916G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.526C>T	8.37:g.20110916G>A	ENSP00000370981:p.Arg176Trp					LZTS1_ENST00000265801.6_Missense_Mutation_p.R176W|LZTS1_ENST00000522290.1_Missense_Mutation_p.R176W	p.R176W			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	883	-			176					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.526C>T	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145224	0.57044	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.39787	1.42;1.42;1.06	5.79	4.9	0.64082	.	0.050817	0.85682	D	0.000000	T	0.57373	0.2049	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.58578	-0.7612	10	0.56958	D	0.05	-61.1995	9.291	0.37786	0.0:0.1367:0.604:0.2593	.	176;176	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	W	176	ENSP00000370981:R176W;ENSP00000265801:R176W;ENSP00000429263:R176W	ENSP00000265801:R176W	R	-	1	2	LZTS1	20155196	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	1.341000	0.33907	1.403000	0.46800	0.561000	0.74099	CGG		0.672	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		4	67	0	0	0	1	0	4	67				
LPAR2	9170	broad.mit.edu	37	19	19737465	19737465	+	Missense_Mutation	SNP	C	C	T	rs201157972		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:19737465C>T	ENST00000542587.1	-	5	1531	c.629G>A	c.(628-630)cGc>cAc	p.R210H	LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000407877.3_Missense_Mutation_p.R210H|LPAR2_ENST00000586703.1_Missense_Mutation_p.R210H			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	210					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAAGAAAATGCGGGTGTACAC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		19763	0.0		0.001	False		,,,				2504	0.0					ENST00000542587.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(628-630)cGc>cAc		lysophosphatidic acid receptor 2							55.0	55.0	55.0					19																	19737465		2203	4300	6503	SO:0001583	missense	9170				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	g.chr19:19737465C>T	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.629G>A	19.37:g.19737465C>T	ENSP00000443256:p.Arg210His					LPAR2_ENST00000586703.1_Missense_Mutation_p.R210H|LPAR2_ENST00000407877.3_Missense_Mutation_p.R210H	p.R210H			Q9HBW0	LPAR2_HUMAN			5	1531	-			210					O00543|O43431	Missense_Mutation	SNP	ENST00000542587.1	37	c.629G>A	CCDS12407.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.386	0.439350	0.12104	.	.	ENSG00000064547	ENST00000407877;ENST00000542587	T;T	0.39056	1.1;1.1	4.14	-0.569	0.11756	GPCR, rhodopsin-like superfamily (1);	0.233072	0.44902	N	0.000404	T	0.22551	0.0544	N	0.17278	0.47	0.39837	D	0.973057	B	0.23854	0.092	B	0.27380	0.079	T	0.04229	-1.0967	10	0.30078	T	0.28	.	7.4262	0.27100	0.0:0.5028:0.0:0.4972	.	210	Q9HBW0	LPAR2_HUMAN	H	210	ENSP00000384665:R210H;ENSP00000443256:R210H	ENSP00000384665:R210H	R	-	2	0	LPAR2	19598465	1.000000	0.71417	0.075000	0.20258	0.002000	0.02628	0.921000	0.28718	-0.159000	0.11021	-0.258000	0.10820	CGC		0.622	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		24	120	0	0	0	1	0	24	120				
DZANK1	55184	broad.mit.edu	37	20	18429670	18429670	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr20:18429670C>A	ENST00000358866.6	-	6	609	c.587G>T	c.(586-588)aGc>aTc	p.S196I	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Missense_Mutation_p.S196I|DZANK1_ENST00000329494.5_Missense_Mutation_p.S198I|DZANK1_ENST00000357236.4_Missense_Mutation_p.S82I			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	196							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TATCTCCGTGCTTGTCAAACA	0.368																																						ENST00000357236.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						c.(244-246)aGc>aTc		double zinc ribbon and ankyrin repeat domains 1							142.0	132.0	135.0					20																	18429670		1859	4101	5960	SO:0001583	missense	55184					intracellular	zinc ion binding	g.chr20:18429670C>A	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.587G>T	20.37:g.18429670C>A	ENSP00000351734:p.Ser196Ile					DZANK1_ENST00000262547.5_Missense_Mutation_p.S196I|DZANK1_ENST00000377630.5_Missense_Mutation_p.S23I|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Missense_Mutation_p.S198I	p.S82I			Q9NVP4	CT012_HUMAN			8	904	-			23					B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	c.245G>T	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048468	0.75846	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.0	4.04	0.47022	.	0.423688	0.31721	N	0.007168	T	0.55737	0.1939	M	0.64997	1.995	0.44006	D	0.996713	D;D;P	0.64830	0.969;0.994;0.832	P;P;B	0.61800	0.787;0.894;0.389	T	0.57602	-0.7783	10	0.56958	D	0.05	-23.4227	11.962	0.53013	0.0:0.9089:0.0:0.0911	.	215;82;196	B7Z631;Q9NVP4-4;Q9NVP4	.;.;DZAN1_HUMAN	I	23;196;198;22;22;82	ENSP00000366857:S23I;ENSP00000262547:S196I;ENSP00000328866:S198I;ENSP00000349774:S82I	ENSP00000262547:S196I	S	-	2	0	C20orf12	18377670	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.584000	0.46102	2.463000	0.83235	0.650000	0.86243	AGC		0.368	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		4	195	1	0	1	1	1	4	195				
HTR6	3362	broad.mit.edu	37	1	19992358	19992358	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:19992358G>A	ENST00000289753.1	+	1	579	c.112G>A	c.(112-114)Gcg>Acg	p.A38T		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	38					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CGTGGTCATCGCGCTGACGGC	0.731																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(112-114)Gcg>Acg		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						8.0	7.0	8.0					1																	19992358		2132	4163	6295	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992358G>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.112G>A	1.37:g.19992358G>A	ENSP00000289753:p.Ala38Thr						p.A38T	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	579	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	38					Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.112G>A	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827331	0.50739	.	.	ENSG00000158748	ENST00000289753	T	0.37235	1.21	3.45	2.51	0.30379	.	0.436161	0.21702	U	0.070403	T	0.12135	0.0295	N	0.08118	0	0.22666	N	0.998878	P	0.36483	0.555	B	0.27262	0.078	T	0.08452	-1.0721	9	.	.	.	.	2.5893	0.04838	0.1096:0.18:0.526:0.1844	.	38	P50406	5HT6R_HUMAN	T	38	ENSP00000289753:A38T	.	A	+	1	0	HTR6	19864945	0.391000	0.25221	0.996000	0.52242	0.946000	0.59487	0.626000	0.24492	0.773000	0.33404	0.313000	0.20887	GCG		0.731	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		14	11	0	0	0	1	0	14	11				
LRRFIP2	9209	broad.mit.edu	37	3	37107434	37107434	+	Splice_Site	SNP	C	C	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:37107434C>A	ENST00000336686.4	-	23	1647		c.e23-1		LRRFIP2_ENST00000396428.2_Splice_Site|LRRFIP2_ENST00000440230.1_Splice_Site|LRRFIP2_ENST00000354379.4_Splice_Site|LRRFIP2_ENST00000421307.1_Splice_Site|LRRFIP2_ENST00000421276.2_Splice_Site			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2						Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AGCCATGTTTCTGCAGGGGGG	0.493																																						ENST00000421307.1																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.e24-1		leucine rich repeat (in FLII) interacting protein 2							69.0	70.0	69.0					3																	37107434		2203	4300	6503	SO:0001630	splice_region_variant	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37107434C>A	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1567-1G>T	3.37:g.37107434C>A						LRRFIP2_ENST00000354379.4_Splice_Site|LRRFIP2_ENST00000440230.1_Splice_Site|LRRFIP2_ENST00000396428.2_Splice_Site|LRRFIP2_ENST00000421276.2_Splice_Site|LRRFIP2_ENST00000336686.4_Splice_Site		NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			24	1989	-								A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Splice_Site	SNP	ENST00000336686.4	37		CCDS2664.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167997	0.78339	.	.	ENSG00000093167	ENST00000421307;ENST00000354379;ENST00000336686;ENST00000421276;ENST00000396428;ENST00000440230;ENST00000440742	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRFIP2	37082438	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.304000	0.78882	2.941000	0.99782	0.655000	0.94253	.		0.493	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309	Intron	84	81	1	0	2.00703e-41	1	2.15491e-41	84	81				
SLC35G3	146861	broad.mit.edu	37	17	33520509	33520509	+	Missense_Mutation	SNP	G	G	A	rs550720367	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:33520509G>A	ENST00000297307.5	-	1	903	c.818C>T	c.(817-819)gCg>gTg	p.A273V	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	273	EamA 2.					integral component of membrane (GO:0016021)											CTTGGTGACCGCATAGCCCAC	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		19324	0.002		0.0	False		,,,				2504	0.0					ENST00000297307.5																			0											c.(817-819)gCg>gTg		solute carrier family 35, member G3							150.0	137.0	141.0					17																	33520509		2203	4299	6502	SO:0001583	missense	146861					integral to membrane		g.chr17:33520509G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.818C>T	17.37:g.33520509G>A	ENSP00000297307:p.Ala273Val						p.A273V	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	903	-			273			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.818C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521075	0.27211	.	.	ENSG00000164729	ENST00000297307	T	0.77098	-1.07	.	.	.	.	0.000000	0.44097	D	0.000481	T	0.62245	0.2412	L	0.34521	1.04	0.46416	D	0.999039	B	0.18863	0.031	B	0.14578	0.011	T	0.51872	-0.8650	9	0.56958	D	0.05	-6.6496	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	273	Q8N808	S35G3_HUMAN	V	273	ENSP00000297307:A273V	ENSP00000297307:A273V	A	-	2	0	SLC35G3	30544622	1.000000	0.71417	0.143000	0.22291	0.144000	0.21451	2.821000	0.48065	0.064000	0.16427	0.064000	0.15345	GCG		0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	267	0	0	0	1	0	5	267				
EPHX4	253152	broad.mit.edu	37	1	92528675	92528675	+	Silent	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:92528675C>T	ENST00000370383.4	+	7	1019	c.921C>T	c.(919-921)gaC>gaT	p.D307D		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	307						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GAGAGAATGACGCATTCATGG	0.418																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(919-921)gaC>gaT		epoxide hydrolase 4							133.0	137.0	136.0					1																	92528675		2203	4300	6503	SO:0001819	synonymous_variant	253152					integral to membrane	hydrolase activity	g.chr1:92528675C>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.921C>T	1.37:g.92528675C>T							p.D307D	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			7	1019	+			307					Q8NCC6	Silent	SNP	ENST00000370383.4	37	c.921C>T	CCDS736.1																																																																																				0.418	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		21	270	0	0	0	1	0	21	270				
CD72	971	broad.mit.edu	37	9	35615999	35615999	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:35615999T>C	ENST00000396757.1	-	6	793	c.629A>G	c.(628-630)gAg>gGg	p.E210G	CD72_ENST00000259633.4_Missense_Mutation_p.E210G|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	210					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTTCTGCTCCAAGGCCCT	0.582																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(628-630)gAg>gGg		CD72 molecule							217.0	184.0	196.0					9																	35615999		2203	4300	6503	SO:0001583	missense	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35615999T>C		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.629A>G	9.37:g.35615999T>C	ENSP00000379980:p.Glu210Gly					CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.E210G	p.E210G			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	793	-			210						Missense_Mutation	SNP	ENST00000396757.1	37	c.629A>G	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256613	0.80246	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.57907	0.37;0.37	5.14	5.14	0.70334	C-type lectin-like (1);	0.314396	0.27068	N	0.021100	T	0.58963	0.2159	M	0.67953	2.075	0.28996	N	0.887777	D;D	0.61080	0.989;0.989	P;P	0.50490	0.642;0.642	T	0.60767	-0.7198	10	0.45353	T	0.12	-14.298	12.3279	0.55022	0.0:0.0:0.0:1.0	.	210;210	Q5TLG3;P21854	.;CD72_HUMAN	G	210	ENSP00000379980:E210G;ENSP00000259633:E210G	ENSP00000259633:E210G	E	-	2	0	CD72	35605999	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.378000	0.59568	1.949000	0.56562	0.402000	0.26972	GAG		0.582	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		120	137	0	0	0	1	0	120	137				
SEMA6A	57556	broad.mit.edu	37	5	115818156	115818156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:115818156G>A	ENST00000343348.6	-	11	1865	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Nonsense_Mutation_p.R360*|SEMA6A_ENST00000257414.8_Nonsense_Mutation_p.R360*|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	360	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TTAGGAACTCGTTCATCAGGA	0.423																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1078-1080)Cga>Tga		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							73.0	72.0	72.0					5																	115818156		1900	4118	6018	SO:0001587	stop_gained	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115818156G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1078C>T	5.37:g.115818156G>A	ENSP00000345512:p.Arg360*					CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Nonsense_Mutation_p.R360*|SEMA6A_ENST00000510263.1_Nonsense_Mutation_p.R360*|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	p.R360*	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	11	1865	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	360			Sema.		Q9P2H9	Nonsense_Mutation	SNP	ENST00000343348.6	37	c.1078C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	37	6.057426	0.97241	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	.	.	.	5.81	4.94	0.65067	.	0.052156	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	14.641	0.68726	0.0:0.0:0.736:0.264	.	.	.	.	X	360	.	ENSP00000257414:R360X	R	-	1	2	SEMA6A	115846055	0.993000	0.37304	0.980000	0.43619	0.948000	0.59901	4.327000	0.59247	1.451000	0.47736	0.585000	0.79938	CGA		0.423	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		20	24	0	0	0	1	0	20	24				
LAMA2	3908	broad.mit.edu	37	6	129649474	129649474	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:129649474C>T	ENST00000421865.2	+	29	4277	c.4228C>T	c.(4228-4230)Cct>Tct	p.P1410S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1410	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGCCGCACCCCTGGACCAAC	0.507																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4228-4230)Cct>Tct		laminin, alpha 2							129.0	113.0	118.0					6																	129649474		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129649474C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4228C>T	6.37:g.129649474C>T	ENSP00000400365:p.Pro1410Ser						p.P1410S	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	29	4277	+			1410			Laminin EGF-like 14; second part.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4228C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540345	0.13250	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.32272	1.46	5.15	0.826	0.18829	.	0.423926	0.24537	N	0.037678	T	0.07143	0.0181	N	0.25201	0.72	0.20703	N	0.999866	B;B	0.30146	0.011;0.27	B;B	0.32465	0.013;0.146	T	0.34925	-0.9809	10	0.27785	T	0.31	.	9.0632	0.36447	0.3855:0.3637:0.2508:0.0	.	1410;1410	A6NF00;P24043	.;LAMA2_HUMAN	S	1410	ENSP00000400365:P1410S	ENSP00000346769:P1410S	P	+	1	0	LAMA2	129691167	0.133000	0.22466	0.004000	0.12327	0.416000	0.31233	0.532000	0.23067	0.125000	0.18397	0.467000	0.42956	CCT		0.507	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			14	237	0	0	0	1	0	14	237				
JAGN1	84522	broad.mit.edu	37	3	9934907	9934907	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:9934907G>A	ENST00000307768.4	+	2	567	c.398G>A	c.(397-399)gGc>gAc	p.G133D		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					TACCGCCATGGCAAGGCCTAC	0.527																																						ENST00000307768.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10						c.(397-399)gGc>gAc		jagunal homolog 1 (Drosophila)							248.0	154.0	186.0					3																	9934907		2203	4300	6503	SO:0001583	missense	84522					endoplasmic reticulum membrane|integral to membrane		g.chr3:9934907G>A	AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.398G>A	3.37:g.9934907G>A	ENSP00000306106:p.Gly133Asp						p.G133D	NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN			2	567	+	Medulloblastoma(99;0.227)		133						Missense_Mutation	SNP	ENST00000307768.4	37	c.398G>A	CCDS2588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.924741|4.924741	0.92319|0.92319	.|.	.|.	ENSG00000171135|ENSG00000171135	ENST00000543379|ENST00000307768	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.203955	.|0.51477	.|D	.|0.000092	T|T	0.76723|0.76723	0.4027|0.4027	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	.|D	.|0.54601	.|0.967	.|P	.|0.57057	.|0.812	T|T	0.77202|0.77202	-0.2674|-0.2674	6|9	0.28530|0.52906	T|T	0.3|0.07	-13.176|-13.176	19.4882|19.4882	0.95039|0.95039	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|133	.|Q8N5M9	.|JAGN1_HUMAN	T|D	132|133	.|.	ENSP00000442889:A132T|ENSP00000306106:G133D	A|G	+|+	1|2	0|0	JAGN1|JAGN1	9909907|9909907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	9.758000|9.758000	0.98927|0.98927	2.709000|2.709000	0.92574|0.92574	0.491000|0.491000	0.48974|0.48974	GCA|GGC		0.527	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	NM_032492		4	261	0	0	0	1	0	4	261				
RNF128	79589	broad.mit.edu	37	X	105937249	105937249	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:105937249G>T	ENST00000324342.3	+	1	182	c.17G>T	c.(16-18)aGg>aTg	p.R6M		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CAGGAGAATAGGTCCAGTTTT	0.348																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(16-18)aGg>aTg		ring finger protein 128, E3 ubiquitin protein ligase							67.0	71.0	69.0					X																	105937249		2203	4299	6502	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937249G>T	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.17G>T	X.37:g.105937249G>T	ENSP00000316127:p.Arg6Met						p.R6M	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	182	+			0					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000324342.3	37	c.17G>T	CCDS14520.1	.	.	.	.	.	.	.	.	.	.	G	0.658	-0.806756	0.02819	.	.	ENSG00000133135	ENST00000324342	T	0.10960	2.82	6.03	2.12	0.27331	.	.	.	.	.	T	0.09949	0.0244	.	.	.	0.09310	N	0.999997	B	0.27765	0.188	B	0.30401	0.115	T	0.29971	-0.9994	8	0.56958	D	0.05	.	8.1572	0.31176	0.6836:0.0:0.3164:0.0	.	6	Q8TEB7-2	.	M	6	ENSP00000316127:R6M	ENSP00000316127:R6M	R	+	2	0	RNF128	105823905	0.906000	0.30813	0.001000	0.08648	0.001000	0.01503	2.558000	0.45879	0.048000	0.15891	-1.203000	0.01651	AGG		0.348	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		15	135	1	0	2.48551e-13	1	2.61362e-13	15	135				
ROR1	4919	broad.mit.edu	37	1	64644134	64644134	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:64644134G>A	ENST00000371079.1	+	9	2785	c.2410G>A	c.(2410-2412)Ggt>Agt	p.G804S	ROR1_ENST00000545203.1_Missense_Mutation_p.G255S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	804	Pro-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCAGATTGCTGGTTTCATTGG	0.512																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(2410-2412)Ggt>Agt		receptor tyrosine kinase-like orphan receptor 1							68.0	67.0	68.0					1																	64644134		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64644134G>A	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2410G>A	1.37:g.64644134G>A	ENSP00000360120:p.Gly804Ser					ROR1_ENST00000545203.1_Missense_Mutation_p.G255S	p.G804S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			9	2785	+			804			Pro-rich.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.2410G>A	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626822	0.87560	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.78816	-0.9;-1.21	6.02	6.02	0.97574	.	0.000000	0.43919	D	0.000519	T	0.69584	0.3127	L	0.29908	0.895	0.80722	D	1	P	0.48294	0.908	P	0.46585	0.521	T	0.74077	-0.3781	10	0.72032	D	0.01	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	804	Q01973	ROR1_HUMAN	S	804;807;255	ENSP00000360120:G804S;ENSP00000441637:G255S	ENSP00000360120:G804S	G	+	1	0	ROR1	64416722	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.408000	0.66368	2.865000	0.98341	0.655000	0.94253	GGT		0.512	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		10	178	0	0	0	1	0	10	178				
RNF103	7844	broad.mit.edu	37	2	86839366	86839366	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:86839366C>T	ENST00000237455.4	-	3	1366	c.398G>A	c.(397-399)gGc>gAc	p.G133D	AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	133					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTGAATTTTGCCCACCAAGGG	0.388																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(397-399)gGc>gAc		ring finger protein 103							105.0	102.0	103.0					2																	86839366		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86839366C>T	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.398G>A	2.37:g.86839366C>T	ENSP00000237455:p.Gly133Asp					AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	p.G133D	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			3	1366	-			133					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.398G>A	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003290	0.54254	.	.	ENSG00000239305	ENST00000237455	T	0.44881	0.91	5.58	5.58	0.84498	.	0.048876	0.85682	D	0.000000	T	0.40979	0.1139	L	0.47716	1.5	0.52099	D	0.999943	P	0.37525	0.598	B	0.34722	0.188	T	0.36890	-0.9729	10	0.56958	D	0.05	-12.7616	19.5655	0.95391	0.0:1.0:0.0:0.0	.	133	O00237	RN103_HUMAN	D	133	ENSP00000237455:G133D	ENSP00000237455:G133D	G	-	2	0	RNF103	86692877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.656000	0.61483	2.639000	0.89480	0.591000	0.81541	GGC		0.388	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		4	205	0	0	0	1	0	4	205				
TRPM3	80036	broad.mit.edu	37	9	73399070	73399070	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:73399070G>A	ENST00000377111.2	-	7	1342	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	TRPM3_ENST00000396283.1_Missense_Mutation_p.R239W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R239W|TRPM3_ENST00000361823.5_Missense_Mutation_p.R214W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R239W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R214W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R214W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R239W|TRPM3_ENST00000377101.1_Missense_Mutation_p.R214W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R214W|TRPM3_ENST00000377110.3_Missense_Mutation_p.R367W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R369W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R239W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R394W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R214W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	392					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.R239W(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCCGATGCCCGTCCACTCCCA	0.532																																						ENST00000377110.2																			1	Substitution - Missense(1)	p.R239W(1)	central_nervous_system(1)	NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(1099-1101)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 3							116.0	100.0	105.0					9																	73399070		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73399070G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1099C>T	9.37:g.73399070G>A	ENSP00000366315:p.Arg367Trp					TRPM3_ENST00000377101.1_Missense_Mutation_p.R214W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R239W|TRPM3_ENST00000361823.5_Missense_Mutation_p.R214W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R239W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R214W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R369W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R394W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R214W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R239W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R239W|TRPM3_ENST00000396283.1_Missense_Mutation_p.R239W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R214W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R214W|TRPM3_ENST00000377111.2_Missense_Mutation_p.R367W	p.R367W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			7	1342	-			392					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1099C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.453302|4.453302	0.84209|0.84209	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.73469|.	3.53;3.53;0.19;0.18;3.53;3.53;3.53;3.53;0.19;0.18;0.2;3.53;-0.75;3.53|.	6.17|6.17	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84584|0.84584	0.5504|0.5504	M|M	0.92604|0.92604	3.325|3.325	0.54753|0.54753	D|D	0.999981|0.999981	D;D;D;D;D;D;D;D;D;P|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.624|.	D;D;D;D;D;D;D;D;D;B|.	0.91635|.	0.995;0.999;0.998;0.996;0.996;0.984;0.995;0.996;0.996;0.154|.	D|D	0.88429|0.88429	0.3034|0.3034	10|5	0.87932|.	D|.	0|.	-20.8719|-20.8719	14.6098|14.6098	0.68507|0.68507	0.0:0.0:0.7346:0.2654|0.0:0.0:0.7346:0.2654	.|.	392;214;367;367;367;369;239;214;367;214|.	Q9HCF6;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.|.	W|M	367;367;239;239;214;369;214;214;239;239;394;214;239;214|213	ENSP00000366315:R367W;ENSP00000366314:R367W;ENSP00000366310:R239W;ENSP00000354066:R239W;ENSP00000366309:R214W;ENSP00000350140:R369W;ENSP00000386127:R214W;ENSP00000379581:R214W;ENSP00000379587:R239W;ENSP00000350791:R239W;ENSP00000389542:R394W;ENSP00000366305:R214W;ENSP00000379579:R239W;ENSP00000355395:R214W|.	ENSP00000350140:R369W|.	R|T	-|-	1|2	2|0	TRPM3|TRPM3	72588890|72588890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	3.127000|3.127000	0.50484|0.50484	1.610000|1.610000	0.50200|0.50200	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.532	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		69	83	0	0	0	1	0	69	83				
CD14	929	broad.mit.edu	37	5	140012294	140012294	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:140012294C>T	ENST00000302014.6	-	2	904	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	CD14_ENST00000401743.2_Missense_Mutation_p.R92Q	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	92					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAGCCGCCGCACGCGGAG	0.647																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(274-276)cGg>cAg		CD14 molecule							24.0	24.0	24.0					5																	140012294		2203	4299	6502	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012294C>T		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.275G>A	5.37:g.140012294C>T	ENSP00000304236:p.Arg92Gln					CD14_ENST00000401743.2_Missense_Mutation_p.R92Q	p.R92Q	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	904	-			92					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.275G>A	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082948	0.36758	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	D;D;D	0.91464	-2.85;-2.85;-2.85	5.87	1.02	0.19986	.	0.261331	0.25294	N	0.031704	T	0.81987	0.4939	L	0.43152	1.355	0.09310	N	1	P	0.34815	0.47	B	0.23150	0.044	T	0.69851	-0.5033	10	0.37606	T	0.19	-12.4952	8.2783	0.31885	0.0:0.5812:0.0:0.4188	.	92	P08571	CD14_HUMAN	Q	92	ENSP00000304236:R92Q;ENSP00000385519:R92Q;ENSP00000426543:R92Q	ENSP00000304236:R92Q	R	-	2	0	CD14	139992478	0.003000	0.15002	0.123000	0.21794	0.116000	0.19942	0.210000	0.17455	0.115000	0.18071	0.655000	0.94253	CGG		0.647	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		18	71	0	0	0	1	0	18	71				
AAK1	22848	broad.mit.edu	37	2	69769714	69769714	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:69769714A>T	ENST00000409085.4	-	5	851	c.475T>A	c.(475-477)Tgt>Agt	p.C159S	AAK1_ENST00000406297.3_Missense_Mutation_p.C159S|AAK1_ENST00000409068.1_Missense_Mutation_p.C159S|AAK1_ENST00000470281.1_5'UTR	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ACAGCTTCACAGGTATCACAA	0.493																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(475-477)Tgt>Agt		AP2 associated kinase 1							120.0	127.0	125.0					2																	69769714		1976	4188	6164	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69769714A>T	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.475T>A	2.37:g.69769714A>T	ENSP00000386456:p.Cys159Ser					AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000409068.1_Missense_Mutation_p.C159S|AAK1_ENST00000406297.3_Missense_Mutation_p.C159S	p.C159S	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			5	851	-			159			Protein kinase.		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.475T>A	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	A	27.1	4.797416	0.90538	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.19938	2.11;2.11;2.11	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	L	0.51914	1.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.998;0.996;0.994	T	0.09357	-1.0678	10	0.45353	T	0.12	-8.8755	14.1374	0.65295	1.0:0.0:0.0:0.0	.	159;159;159	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	S	159	ENSP00000386342:C159S;ENSP00000386456:C159S;ENSP00000385181:C159S	ENSP00000385181:C159S	C	-	1	0	AAK1	69623218	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.139000	0.94554	2.205000	0.71048	0.482000	0.46254	TGT		0.493	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		4	192	0	0	0	1	0	4	192				
IL2	3558	broad.mit.edu	37	4	123372928	123372928	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr4:123372928G>A	ENST00000226730.4	-	4	725	c.441C>T	c.(439-441)agC>agT	p.S147S		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	147					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	TTGAGATGATGCTTTGACAAA	0.303			T	TNFRSF17	intestinal T-cell lymphoma																																	ENST00000226730.4				Dom	yes		4	4q26-q27	3558	T	interleukin 2			L	TNFRSF17		intestinal T-cell lymphoma		0				endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13						c.(439-441)agC>agT		interleukin 2							88.0	83.0	85.0					4																	123372928		2202	4300	6502	SO:0001819	synonymous_variant	3558				anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	g.chr4:123372928G>A	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"""Interleukins and interleukin receptors"""	6001	protein-coding gene	gene with protein product	"""T cell growth factor"""	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.441C>T	4.37:g.123372928G>A							p.S147S	NM_000586.3	NP_000577.2	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	4	725	-			147					P01585	Silent	SNP	ENST00000226730.4	37	c.441C>T	CCDS3726.1																																																																																				0.303	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			17	61	0	0	0	1	0	17	61				
TLE4	7091	broad.mit.edu	37	9	82337427	82337427	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:82337427A>G	ENST00000376552.2	+	18	3066	c.2048A>G	c.(2047-2049)aAt>aGt	p.N683S	TLE4_ENST00000376544.3_Missense_Mutation_p.N614S|TLE4_ENST00000376520.4_Missense_Mutation_p.N715S|TLE4_ENST00000265284.6_Missense_Mutation_p.N658S|TLE4_ENST00000376534.4_Missense_Mutation_p.N320S|TLE4_ENST00000376537.4_Missense_Mutation_p.N715S	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	683					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGAACAGCAATGTGGAAGTT	0.483																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(2143-2145)aAt>aGt		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							131.0	127.0	128.0					9																	82337427		2031	4225	6256	SO:0001583	missense	7091							g.chr9:82337427A>G	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.2048A>G	9.37:g.82337427A>G	ENSP00000365735:p.Asn683Ser					TLE4_ENST00000265284.6_Missense_Mutation_p.N658S|TLE4_ENST00000376552.2_Missense_Mutation_p.N683S|TLE4_ENST00000376544.3_Missense_Mutation_p.N614S|TLE4_ENST00000376537.4_Missense_Mutation_p.N715S|TLE4_ENST00000376534.4_Missense_Mutation_p.N320S	p.N715S			O60756	BCE1_HUMAN			19	2972	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.2144A>G	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.991536	0.74703	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	N	0.25647	0.755	0.80722	D	1	B;B;B;P	0.38280	0.368;0.11;0.222;0.625	B;B;B;B	0.33750	0.065;0.018;0.065;0.169	T	0.14090	-1.0485	10	0.42905	T	0.14	-31.4912	16.8222	0.85835	1.0:0.0:0.0:0.0	.	658;614;715;683	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	S	683;614;715;715;320;658	ENSP00000365735:N683S;ENSP00000365727:N614S;ENSP00000365703:N715S;ENSP00000365720:N715S;ENSP00000365717:N320S;ENSP00000265284:N658S	ENSP00000265284:N658S	N	+	2	0	TLE4	81527247	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAT		0.483	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		28	65	0	0	0	1	0	28	65				
ADAMTS12	81792	broad.mit.edu	37	5	33576343	33576343	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:33576343G>A	ENST00000504830.1	-	19	4123	c.3788C>T	c.(3787-3789)aCg>aTg	p.T1263M	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1178M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1263	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T1263M(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACGGTTTGCCGTCTTTCCTGA	0.502										HNSCC(64;0.19)																												ENST00000504830.1																			2	Substitution - Missense(2)	p.T1263M(2)	urinary_tract(1)|large_intestine(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3787-3789)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 12							199.0	198.0	198.0					5																	33576343		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576343G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3788C>T	5.37:g.33576343G>A	ENSP00000422554:p.Thr1263Met	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1178M	p.T1263M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	4123	-			1263			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3788C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	2.426	-0.331954	0.05314	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59638	0.26;0.25	5.42	1.0	0.19881	.	2.214480	0.01524	N	0.018491	T	0.36193	0.0958	N	0.14661	0.345	0.09310	N	1	B;B	0.33171	0.4;0.279	B;B	0.27380	0.079;0.022	T	0.28364	-1.0046	10	0.46703	T	0.11	.	1.0625	0.01604	0.4257:0.1432:0.2642:0.1669	.	1178;1263	P58397-3;P58397	.;ATS12_HUMAN	M	1263;1178	ENSP00000422554:T1263M;ENSP00000344847:T1178M	ENSP00000344847:T1178M	T	-	2	0	ADAMTS12	33612100	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.466000	0.22019	0.263000	0.21812	0.655000	0.94253	ACG		0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		161	211	0	0	0	1	0	161	211				
PCDHA10	56139	broad.mit.edu	37	5	140237891	140237891	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:140237891G>A	ENST00000307360.5	+	1	2258	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	753	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGGCGGCAGAGGGTG	0.672																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(2257-2259)cGg>cAg									50.0	57.0	54.0					5																	140237891		1322	2289	3611	SO:0001583	missense	0							g.chr5:140237891G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2258G>A	5.37:g.140237891G>A	ENSP00000304234:p.Arg753Gln					PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.R753Q	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2258	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.2258G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	5.800	0.331998	0.10956	.	.	ENSG00000250120	ENST00000307360	T	0.14022	2.54	3.79	0.935	0.19483	.	.	.	.	.	T	0.07369	0.0186	L	0.28776	0.89	0.09310	N	0.999999	B;B	0.31413	0.322;0.216	B;B	0.21708	0.036;0.024	T	0.38286	-0.9668	9	0.21014	T	0.42	.	4.4399	0.11568	0.3879:0.1603:0.4518:0.0	.	753;753	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	Q	753	ENSP00000304234:R753Q	ENSP00000304234:R753Q	R	+	2	0	PCDHA10	140218075	0.000000	0.05858	0.761000	0.31378	0.599000	0.36880	0.435000	0.21510	0.059000	0.16252	0.462000	0.41574	CGG		0.672	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		22	29	0	0	0	1	0	22	29				
ARMCX5	64860	broad.mit.edu	37	X	101858274	101858274	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:101858274C>A	ENST00000604957.1	+	1	3827	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y	ARMCX5_ENST00000372742.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S402Y|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S402Y|ARMCX5_ENST00000536530.1_Missense_Mutation_p.S402Y|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S402Y	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	402										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCATAATCTCTTGCCCCTTG	0.423																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1204-1206)tCt>tAt		armadillo repeat containing, X-linked 5							58.0	58.0	58.0					X																	101858274		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101858274C>A		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1205C>A	X.37:g.101858274C>A	ENSP00000474720:p.Ser402Tyr					RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S402Y|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S402Y|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.S402Y	p.S402Y	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3827	+			402					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.1205C>A	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	C	1.997	-0.430418	0.04669	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	3.9	1.01	0.19927	Armadillo-like helical (1);Armadillo-type fold (1);	0.767473	0.11173	N	0.591775	T	0.27278	0.0669	L	0.60455	1.87	0.09310	N	1	P	0.40970	0.734	B	0.38378	0.272	T	0.15549	-1.0433	10	0.62326	D	0.03	-0.3625	5.6855	0.17801	0.0:0.5176:0.3683:0.1141	.	402	Q6P1M9	ARMX5_HUMAN	Y	402	ENSP00000246174:S402Y;ENSP00000439001:S402Y;ENSP00000446385:S402Y;ENSP00000445851:S402Y;ENSP00000361827:S402Y	ENSP00000246174:S402Y	S	+	2	0	ARMCX5	101744930	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-0.175000	0.09825	0.085000	0.17107	0.529000	0.55759	TCT		0.423	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		15	195	1	0	1.37285e-15	1	1.45866e-15	15	195				
RFX3	5991	broad.mit.edu	37	9	3257179	3257179	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:3257179G>A	ENST00000382004.3	-	15	1937	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	RFX3_ENST00000358730.2_Silent_p.C542C|RFX3_ENST00000302303.1_Silent_p.C542C	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	542					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CATCACACTGGCACACCCAGG	0.483																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1624-1626)tgC>tgT		regulatory factor X, 3 (influences HLA class II expression)							118.0	101.0	107.0					9																	3257179		2203	4300	6503	SO:0001819	synonymous_variant	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3257179G>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1626C>T	9.37:g.3257179G>A						RFX3_ENST00000302303.1_Silent_p.C542C|RFX3_ENST00000358730.2_Silent_p.C542C	p.C542C	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	15	1937	-			542					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	ENST00000382004.3	37	c.1626C>T	CCDS6449.1																																																																																				0.483	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		4	126	0	0	0	1	0	4	126				
AHNAK2	113146	broad.mit.edu	37	14	105417287	105417287	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr14:105417287G>A	ENST00000333244.5	-	7	4620	c.4501C>T	c.(4501-4503)Ccg>Tcg	p.P1501S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1501						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.602																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4501-4503)Ccg>Tcg		AHNAK nucleoprotein 2							193.0	134.0	153.0					14																	105417287		1949	4037	5986	SO:0001583	missense	113146					nucleus		g.chr14:105417287G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4501C>T	14.37:g.105417287G>A	ENSP00000353114:p.Pro1501Ser					AHNAK2_ENST00000557457.1_Intron	p.P1501S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4620	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1501					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4501C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	13.24	2.179405	0.38511	.	.	ENSG00000185567	ENST00000333244	T	0.03035	4.07	4.16	4.16	0.48862	.	.	.	.	.	T	0.25419	0.0618	M	0.92077	3.27	0.25761	N	0.984946	D	0.89917	1.0	D	0.91635	0.999	T	0.16335	-1.0406	9	0.41790	T	0.15	-29.3229	16.1243	0.81382	0.0:0.0:1.0:0.0	.	1501	Q8IVF2	AHNK2_HUMAN	S	1501	ENSP00000353114:P1501S	ENSP00000353114:P1501S	P	-	1	0	AHNAK2	104488332	0.037000	0.19845	0.981000	0.43875	0.010000	0.07245	0.082000	0.14847	1.867000	0.54127	0.485000	0.47835	CCG		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	612	0	0	0	1	0	5	612				
ADAMTS15	170689	broad.mit.edu	37	11	130341194	130341194	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:130341194C>G	ENST00000299164.2	+	7	1994	c.1994C>G	c.(1993-1995)tCc>tGc	p.S665C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	665	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AACCTGGGCTCCAAGAAGAGA	0.577																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1993-1995)tCc>tGc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							134.0	131.0	132.0					11																	130341194		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130341194C>G	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1994C>G	11.37:g.130341194C>G	ENSP00000299164:p.Ser665Cys						p.S665C	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	7	1994	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	665			Cys-rich.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1994C>G	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910458	0.92107	.	.	ENSG00000166106	ENST00000299164	T	0.77229	-1.08	5.97	5.97	0.96955	.	.	.	.	.	D	0.93331	0.7874	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94961	0.8108	9	0.87932	D	0	.	20.4157	0.99026	0.0:1.0:0.0:0.0	.	665	Q8TE58	ATS15_HUMAN	C	665	ENSP00000299164:S665C	ENSP00000299164:S665C	S	+	2	0	ADAMTS15	129846404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.453000	0.80700	2.825000	0.97269	0.655000	0.94253	TCC		0.577	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		36	33	0	0	0	1	0	36	33				
IER3	8870	broad.mit.edu	37	6	30712191	30712191	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:30712191G>A	ENST00000259874.5	-	1	140	c.105C>T	c.(103-105)atC>atT	p.I35I	XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_5'Flank|IER3_ENST00000376377.2_Silent_p.I35I|FLOT1_ENST00000470643.1_5'Flank|FLOT1_ENST00000376389.3_5'Flank	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	35					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						CGAAGGTGAAGATCTCAGGAC	0.736																																						ENST00000376377.2																			0				NS(1)	1						c.(103-105)atC>atT		immediate early response 3							4.0	7.0	6.0					6																	30712191		1299	2425	3724	SO:0001819	synonymous_variant	8870				anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding	g.chr6:30712191G>A	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.105C>T	6.37:g.30712191G>A						IER3_ENST00000259874.5_Silent_p.I35I	p.I35I			P46695	IEX1_HUMAN			1	134	-			35					Q5SU30|Q92691|Q93044	Silent	SNP	ENST00000259874.5	37	c.105C>T	CCDS4689.1																																																																																				0.736	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			4	13	0	0	0	1	0	4	13				
GH2	2689	broad.mit.edu	37	17	61957710	61957710	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:61957710G>A	ENST00000423893.2	-	5	686	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	GH2_ENST00000449787.2_Missense_Mutation_p.R194C|GH2_ENST00000456543.2_Silent_p.A207A|GH2_ENST00000332800.7_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	209					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TCCACAGAGCGGCACTGCACG	0.607																																						ENST00000423893.2																			0				breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(625-627)Cgc>Tgc		growth hormone 2							99.0	84.0	89.0					17																	61957710		2202	4279	6481	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61957710G>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.625C>T	17.37:g.61957710G>A	ENSP00000409294:p.Arg209Cys					GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_Missense_Mutation_p.R194C|GH2_ENST00000456543.2_Silent_p.A207A	p.R209C			P01242	SOM2_HUMAN			5	686	-			209					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.625C>T	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	g	13.05	2.122567	0.37436	.	.	ENSG00000136487	ENST00000423893;ENST00000449787	D;D	0.93076	-3.16;-3.16	2.74	2.74	0.32292	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	D	0.96153	0.8746	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.97110	1.0;0.85	D	0.96270	0.9198	8	0.87932	D	0	.	12.4782	0.55827	0.0:0.0:1.0:0.0	.	209;194	P01242;O14643	SOM2_HUMAN;.	C	209;194	ENSP00000409294:R209C;ENSP00000410618:R194C	ENSP00000409294:R209C	R	-	1	0	GH2	59311442	1.000000	0.71417	0.998000	0.56505	0.093000	0.18481	4.598000	0.61069	1.531000	0.49152	0.306000	0.20318	CGC		0.607	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		24	58	0	0	0	1	0	24	58				
TTN	7273	broad.mit.edu	37	2	179650719	179650719	+	Silent	SNP	G	G	A	rs151025677	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:179650719G>A	ENST00000591111.1	-	14	2450	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S	TTN_ENST00000589042.1_Silent_p.S742S|TTN_ENST00000359218.5_Silent_p.S696S|TTN_ENST00000342992.6_Silent_p.S742S|TTN_ENST00000360870.5_Silent_p.S742S|TTN_ENST00000460472.2_Silent_p.S696S|TTN_ENST00000342175.6_Silent_p.S696S			Q8WZ42	TITIN_HUMAN	titin	33583					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S696S(3)|p.S742S(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGCGGCGGAAATGCGTT	0.547																																						ENST00000589042.1																			5	Substitution - coding silent(5)	p.S696S(3)|p.S742S(2)	prostate(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(2224-2226)tcC>tcT		titin		A	,,,,	0,4406		0,0,2203	98.0	90.0	92.0		2088,2226,2226,2088,2088	-12.3	0.0	2	dbSNP_134	92	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	696/26927,742/33424,742/5605,696/27052,696/27119	179650719	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650719G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2226C>T	2.37:g.179650719G>A						TTN_ENST00000460472.2_Silent_p.S696S|TTN_ENST00000360870.5_Silent_p.S742S|TTN_ENST00000591111.1_Silent_p.S742S|TTN_ENST00000342175.6_Silent_p.S696S|TTN_ENST00000342992.6_Silent_p.S742S|TTN_ENST00000359218.5_Silent_p.S696S	p.S742S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	2450	-			742					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.2226C>T																																																																																					0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	152	0	0	0	1	0	20	152				
SLITRK4	139065	broad.mit.edu	37	X	142717979	142717979	+	Missense_Mutation	SNP	C	C	T	rs142699085	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:142717979C>T	ENST00000381779.4	-	2	1171	c.946G>A	c.(946-948)Gtt>Att	p.V316I	SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316I|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	316						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTGCAACGATTCCAGAG	0.473																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(946-948)Gtt>Att		SLIT and NTRK-like family, member 4							156.0	140.0	145.0					X																	142717979		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717979C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.946G>A	X.37:g.142717979C>T	ENSP00000371198:p.Val316Ile					SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316I	p.V316I	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1171	-	Acute lymphoblastic leukemia(192;6.56e-05)		316					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.946G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297080	0.23650	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52754	0.65;0.65;0.65	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	N	0.19112	0.55	0.80722	D	1	B	0.34264	0.446	B	0.24394	0.053	T	0.10474	-1.0628	10	0.33141	T	0.24	-8.7004	17.551	0.87875	0.0:1.0:0.0:0.0	.	316	Q8IW52	SLIK4_HUMAN	I	316	ENSP00000371198:V316I;ENSP00000349400:V316I;ENSP00000336627:V316I	ENSP00000336627:V316I	V	-	1	0	SLITRK4	142545645	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	4.627000	0.61276	2.471000	0.83476	0.600000	0.82982	GTT		0.473	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		112	197	0	0	0	1	0	112	197				
BORA	79866	broad.mit.edu	37	13	73320715	73320715	+	Silent	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr13:73320715C>T	ENST00000390667.5	+	10	1045	c.948C>T	c.(946-948)atC>atT	p.I316I	BORA_ENST00000377815.3_Silent_p.I246I	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	316					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										ATCCGTGTATCAGAAGTCCTT	0.398																																						ENST00000390667.5																			0											c.(946-948)atC>atT		bora, aurora kinase A activator							82.0	77.0	79.0					13																	73320715		1817	4086	5903	SO:0001819	synonymous_variant	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73320715C>T	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.948C>T	13.37:g.73320715C>T						BORA_ENST00000377815.3_Silent_p.I246I	p.I316I	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			10	1045	+			316					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Silent	SNP	ENST00000390667.5	37	c.948C>T	CCDS9446.1																																																																																				0.398	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		7	206	0	0	0	1	0	7	206				
SERPINB8	5271	broad.mit.edu	37	18	61649048	61649048	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:61649048G>A	ENST00000397985.2	+	4	656	c.400G>A	c.(400-402)Gac>Aac	p.D134N	SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.D134N|SERPINB8_ENST00000353706.2_Missense_Mutation_p.D134N	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	134					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GCATATAAATGACTGGGTGGC	0.438																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(400-402)Gac>Aac		serpin peptidase inhibitor, clade B (ovalbumin), member 8							192.0	179.0	183.0					18																	61649048		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61649048G>A	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.400G>A	18.37:g.61649048G>A	ENSP00000381072:p.Asp134Asn					SERPINB8_ENST00000353706.2_Missense_Mutation_p.D134N|SERPINB8_ENST00000397988.3_Missense_Mutation_p.D134N|SERPINB8_ENST00000542677.1_5'UTR	p.D134N	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			4	656	+		Esophageal squamous(42;0.129)	134					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.400G>A	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.93|14.93	2.682219|2.682219	0.47991|0.47991	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000441827|ENST00000295211	D;D;D;D|.	0.82711|.	-1.64;-1.64;-1.64;-1.64|.	5.21|5.21	0.394|0.394	0.16299|0.16299	Serpin domain (3);|.	0.652336|.	0.17147|.	N|.	0.185233|.	T|T	0.50446|0.50446	0.1616|0.1616	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999996|0.999996	B;B|.	0.10296|.	0.002;0.003|.	B;B|.	0.15870|.	0.014;0.014|.	T|T	0.34775|0.34775	-0.9815|-0.9815	9|5	.|.	.|.	.|.	.|.	6.1951|6.1951	0.20546|0.20546	0.2866:0.127:0.5864:0.0|0.2866:0.127:0.5864:0.0	.|.	134;134|.	P50452;Q8N178|.	SPB8_HUMAN;.|.	N|I	134|75	ENSP00000381072:D134N;ENSP00000331368:D134N;ENSP00000381075:D134N;ENSP00000393456:D134N|.	.|.	D|M	+|+	1|3	0|0	SERPINB8|SERPINB8	59800028|59800028	0.000000|0.000000	0.05858|0.05858	0.880000|0.880000	0.34516|0.34516	0.878000|0.878000	0.50629|0.50629	-0.673000|-0.673000	0.05239|0.05239	0.129000|0.129000	0.18514|0.18514	0.467000|0.467000	0.42956|0.42956	GAC|ATG		0.438	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		50	189	0	0	0	1	0	50	189				
SLC43A3	29015	broad.mit.edu	37	11	57182153	57182153	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:57182153G>A	ENST00000395123.2	-	11	1299	c.995C>T	c.(994-996)gCc>gTc	p.A332V	SLC43A3_ENST00000533524.1_Missense_Mutation_p.A345V|SLC43A3_ENST00000529554.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000528098.1_5'Flank|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000352187.1_Missense_Mutation_p.A332V	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	332					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATTCCAGGGGGCACACAGCAC	0.542																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(994-996)gCc>gTc		solute carrier family 43, member 3							214.0	210.0	211.0					11																	57182153		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57182153G>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.995C>T	11.37:g.57182153G>A	ENSP00000378555:p.Ala332Val					SLC43A3_ENST00000529554.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000533524.1_Missense_Mutation_p.A345V|SLC43A3_ENST00000352187.1_Missense_Mutation_p.A332V	p.A332V	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			11	1299	-			332					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.995C>T	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743189	0.89663	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.17	4.26	0.50523	Major facilitator superfamily domain, general substrate transporter (1);	0.171594	0.51477	N	0.000086	T	0.63236	0.2494	M	0.81239	2.535	0.47308	D	0.999389	P;P;P	0.51933	0.949;0.73;0.73	P;P;P	0.53760	0.734;0.612;0.612	T	0.62642	-0.6811	10	0.24483	T	0.36	-23.8115	10.861	0.46827	0.09:0.0:0.91:0.0	.	345;332;332	E7EQD2;Q8NBI5;A8K2X6	.;S43A3_HUMAN;.	V	332;332;332;332;345	ENSP00000378555:A332V;ENSP00000378556:A332V;ENSP00000337561:A332V;ENSP00000436254:A332V;ENSP00000434515:A345V	ENSP00000337561:A332V	A	-	2	0	SLC43A3	56938729	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.422000	0.90262	1.179000	0.42884	0.462000	0.41574	GCC		0.542	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		5	284	0	0	0	1	0	5	284				
MAGEE1	57692	broad.mit.edu	37	X	75648839	75648839	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:75648839G>A	ENST00000361470.2	+	1	794	c.516G>A	c.(514-516)acG>acA	p.T172T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	172	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGAGGGAACGAGCACCTCCG	0.682																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(514-516)acG>acA		melanoma antigen family E, 1							31.0	28.0	29.0					X																	75648839		2202	4300	6502	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648839G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.516G>A	X.37:g.75648839G>A							p.T172T	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	794	+			172			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.516G>A	CCDS14433.1																																																																																				0.682	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		40	47	0	0	0	1	0	40	47				
MRGPRX3	117195	broad.mit.edu	37	11	18159394	18159394	+	Silent	SNP	C	C	T	rs201290239		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:18159394C>T	ENST00000396275.2	+	3	1006	c.645C>T	c.(643-645)taC>taT	p.Y215Y		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y215Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCAGGCTGTACGTGACCATCC	0.562																																						ENST00000396275.2																			1	Substitution - coding silent(1)	p.Y215Y(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(643-645)taC>taT		MAS-related GPR, member X3							114.0	107.0	110.0					11																	18159394		2200	4293	6493	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159394C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.645C>T	11.37:g.18159394C>T							p.Y215Y	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	1006	+			215					B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.645C>T	CCDS7830.1																																																																																				0.562	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		39	30	0	0	0	1	0	39	30				
CD22	933	broad.mit.edu	37	19	35835785	35835785	+	Missense_Mutation	SNP	G	G	A	rs575288611		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:35835785G>A	ENST00000085219.5	+	10	2155	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	CD22_ENST00000270311.6_Missense_Mutation_p.A577T|CD22_ENST00000419549.2_Missense_Mutation_p.A525T|CD22_ENST00000544992.2_Missense_Mutation_p.A697T|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000536635.2_Missense_Mutation_p.A609T|CD22_ENST00000594250.1_Missense_Mutation_p.A520T|CD22_ENST00000341773.6_Missense_Mutation_p.A520T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	697					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCCTGCCTCGCCATCCTCAT	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15696	0.0		0.0	False		,,,				2504	0.0				Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2089-2091)Gcc>Acc		CD22 molecule	OspA lipoprotein(DB00045)						103.0	103.0	103.0					19																	35835785		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35835785G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2089G>A	19.37:g.35835785G>A	ENSP00000085219:p.Ala697Thr					CD22_ENST00000594250.1_Missense_Mutation_p.A520T|CD22_ENST00000544992.2_Missense_Mutation_p.A697T|CD22_ENST00000270311.6_Missense_Mutation_p.A577T|CD22_ENST00000341773.6_Missense_Mutation_p.A520T|CD22_ENST00000536635.2_Missense_Mutation_p.A609T|CD22_ENST00000419549.2_Missense_Mutation_p.A525T	p.A697T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		10	2155	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		697					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2089G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615254	0.46631	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T;T	0.57595	0.86;0.46;0.39;0.8;0.77;0.93	5.37	0.574	0.17368	.	0.470871	0.17889	N	0.158563	T	0.42108	0.1188	L	0.44542	1.39	0.09310	N	1	P;P;D;P;D	0.62365	0.912;0.933;0.979;0.853;0.991	B;B;P;B;P	0.50082	0.165;0.375;0.51;0.195;0.63	T	0.36138	-0.9760	10	0.10377	T	0.69	.	4.3527	0.11163	0.2541:0.0:0.5701:0.1759	.	525;697;609;697;520	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	T	697;609;520;697;577;525	ENSP00000085219:A697T;ENSP00000442279:A609T;ENSP00000339349:A520T;ENSP00000441237:A697T;ENSP00000270311:A577T;ENSP00000403822:A525T	ENSP00000085219:A697T	A	+	1	0	CD22	40527625	0.445000	0.25657	0.010000	0.14722	0.219000	0.24729	0.507000	0.22675	-0.038000	0.13624	0.563000	0.77884	GCC		0.627	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		132	200	0	0	0	1	0	132	200				
IGHG2	3501	broad.mit.edu	37	14	106110875	106110875	+	RNA	SNP	C	C	T	rs368941054		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr14:106110875C>T	ENST00000390545.2	-	0	252							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TTGTGATCTACGTTGCAGGTG	0.612																																						ENST00000390545.2																			0																				160.0	148.0	152.0					14																	106110875		2133	4241	6374			0							g.chr14:106110875C>T	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110875C>T														0	252	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.612	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		110	106	0	0	0	1	0	110	106				
EMR2	30817	broad.mit.edu	37	19	14865794	14865794	+	Missense_Mutation	SNP	G	G	A	rs146763976		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:14865794G>A	ENST00000315576.3	-	14	2013	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000392964.3_Silent_p.C185C|EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	521	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.A521V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CATGAGGACGGCAAAGCTGCT	0.572																																						ENST00000315576.3																			1	Substitution - Missense(1)	p.A521V(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1561-1563)gCc>gTc		egf-like module containing, mucin-like, hormone receptor-like 2		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	160.0	120.0	134.0		1562,1415,1283,1136,1529,1382,1250	4.1	1.0	19	dbSNP_134	134	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	64,64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	521/824,472/775,428/731,379/682,510/813,461/764,417/720	14865794	1,13005	2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14865794G>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1562C>T	19.37:g.14865794G>A	ENSP00000319883:p.Ala521Val					EMR2_ENST00000392965.3_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V|EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000392964.3_Silent_p.C185C	p.A521V	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			14	2013	-			521			GPS.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1562C>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075929	0.55646	2.27E-4	0.0	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.05	4.05	0.47172	GPS domain (3);	.	.	.	.	D	0.90342	0.6978	H	0.94771	3.58	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	0.998;0.998;1.0;0.998;0.999;0.999;0.995	D	0.92444	0.5964	9	0.87932	D	0	.	12.4281	0.55559	0.0:0.0:1.0:0.0	.	428;521;379;472;521;521;510	Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	V	521;510;472;428;379	ENSP00000319883:A521V;ENSP00000376694:A510V;ENSP00000263380:A472V;ENSP00000319454:A428V;ENSP00000319838:A379V	ENSP00000319883:A521V	A	-	2	0	EMR2	14726794	1.000000	0.71417	0.957000	0.39632	0.010000	0.07245	6.542000	0.73869	2.172000	0.68678	0.508000	0.49915	GCC		0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			4	189	0	0	0	1	0	4	189				
ZNF347	84671	broad.mit.edu	37	19	53644511	53644511	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:53644511G>C	ENST00000334197.7	-	5	1638	c.1570C>G	c.(1570-1572)Caa>Gaa	p.Q524E	ZNF347_ENST00000601469.2_Missense_Mutation_p.Q525E|ZNF347_ENST00000452676.2_Missense_Mutation_p.Q525E|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTGAATTTTGAGTGAAGACC	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1573-1575)Caa>Gaa		zinc finger protein 347							140.0	139.0	139.0					19																	53644511		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644511G>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1570C>G	19.37:g.53644511G>C	ENSP00000334146:p.Gln524Glu					ZNF347_ENST00000334197.7_Missense_Mutation_p.Q524E|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.Q525E	p.Q525E	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1999	-			524					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1573C>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104408	0.37145	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07327	3.2;3.2	3.01	-6.02	0.02192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08758	0.0217	L	0.43554	1.36	0.09310	N	1	D;B	0.65815	0.995;0.338	P;B	0.52598	0.703;0.053	T	0.03981	-1.0987	9	0.29301	T	0.29	.	3.4353	0.07444	0.0897:0.1504:0.2364:0.5235	.	525;524	G5E9N4;Q96SE7	.;ZN347_HUMAN	E	524;525	ENSP00000334146:Q524E;ENSP00000405218:Q525E	ENSP00000334146:Q524E	Q	-	1	0	ZNF347	58336323	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	-0.633000	0.05483	-1.186000	0.02713	-0.182000	0.12963	CAA		0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		11	428	0	0	0	1	0	11	428				
RIMBP2	23504	broad.mit.edu	37	12	130963555	130963555	+	Nonsense_Mutation	SNP	G	G	A	rs138967663		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:130963555G>A	ENST00000261655.4	-	3	167	c.4C>T	c.(4-6)Cga>Tga	p.R2*	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	2					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCGCCTCTCGCATATGCTGT	0.617																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(4-6)Cga>Tga		RIMS binding protein 2		G	stop/ARG	1,4403	2.1+/-5.4	0,1,2201	34.0	34.0	34.0		4	4.2	1.0	12	dbSNP_134	34	0,8598		0,0,4299	no	stop-gained	RIMBP2	NM_015347.4		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		2/1053	130963555	1,13001	2202	4299	6501	SO:0001587	stop_gained	23504					cell junction|synapse		g.chr12:130963555G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.4C>T	12.37:g.130963555G>A	ENSP00000261655:p.Arg2*					RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	p.R2*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	3	167	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	2					Q96ID2	Nonsense_Mutation	SNP	ENST00000261655.4	37	c.4C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	37	6.493999	0.97612	2.27E-4	0.0	ENSG00000060709	ENST00000261655	.	.	.	4.25	4.25	0.50352	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6109	15.3895	0.74731	0.0:0.0:1.0:0.0	.	.	.	.	X	2	.	ENSP00000261655:R2X	R	-	1	2	RIMBP2	129529508	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.441000	0.90313	1.909000	0.55274	0.491000	0.48974	CGA		0.617	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		39	39	0	0	0	1	0	39	39				
MCPH1	79648	broad.mit.edu	37	8	6302235	6302235	+	Missense_Mutation	SNP	G	G	A	rs373336510		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:6302235G>A	ENST00000344683.5	+	8	1068	c.992G>A	c.(991-993)cGt>cAt	p.R331H	MCPH1_ENST00000522905.1_Missense_Mutation_p.R283H|MCPH1_ENST00000519480.1_Missense_Mutation_p.R331H	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	331					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAGAAGTATCGTTTGTCTCCT	0.418																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(991-993)cGt>cAt		microcephalin 1							54.0	50.0	52.0					8																	6302235		1902	4127	6029	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6302235G>A	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.992G>A	8.37:g.6302235G>A	ENSP00000342924:p.Arg331His					MCPH1_ENST00000519480.1_Missense_Mutation_p.R331H|MCPH1_ENST00000522905.1_Missense_Mutation_p.R283H	p.R331H	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	1068	+		Hepatocellular(245;0.0663)	331					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.992G>A	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595722	0.46318	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.10573	2.86;2.86;2.86	4.94	-2.08	0.07254	.	2.833960	0.00751	N	0.001077	T	0.17323	0.0416	L	0.50333	1.59	0.09310	N	1	D;D;D	0.59767	0.986;0.973;0.977	P;P;P	0.56788	0.493;0.806;0.493	T	0.23013	-1.0200	10	0.36615	T	0.2	0.2226	0.8385	0.01145	0.1783:0.2823:0.2511:0.2884	.	283;331;331	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	H	331;331;283	ENSP00000342924:R331H;ENSP00000430962:R331H;ENSP00000430768:R283H	ENSP00000342924:R331H	R	+	2	0	MCPH1	6289643	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.560000	0.05964	-0.072000	0.12864	0.655000	0.94253	CGT		0.418	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		42	23	0	0	0	1	0	42	23				
PCLO	27445	broad.mit.edu	37	7	82474624	82474624	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:82474624G>C	ENST00000333891.9	-	13	14346	c.14009C>G	c.(14008-14010)tCc>tGc	p.S4670C	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.S4670C	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTGAGGGGGACCCTGGTTG	0.502																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(14008-14010)tCc>tGc		piccolo presynaptic cytomatrix protein							55.0	57.0	56.0					7																	82474624		2012	4174	6186	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474624G>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14009C>G	7.37:g.82474624G>C	ENSP00000334319:p.Ser4670Cys					PCLO_ENST00000333891.8_Missense_Mutation_p.S4670C|PCLO_ENST00000426442.2_5'UTR	p.S4670C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			13	14346	-			4558						Missense_Mutation	SNP	ENST00000333891.9	37	c.14009C>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882870	0.51908	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.19938	2.11;2.12	5.53	5.53	0.82687	.	.	.	.	.	T	0.46444	0.1393	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.997;0.993	T	0.34800	-0.9814	9	0.87932	D	0	.	19.827	0.96621	0.0:0.0:1.0:0.0	.	4670;4670;100;167	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	C	4670;4670;166	ENSP00000334319:S4670C;ENSP00000388393:S4670C	ENSP00000334319:S4670C	S	-	2	0	PCLO	82312560	1.000000	0.71417	0.966000	0.40874	0.891000	0.51852	9.110000	0.94302	2.759000	0.94783	0.561000	0.74099	TCC		0.502	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		32	72	0	0	0	1	0	32	72				
TFAP2D	83741	broad.mit.edu	37	6	50740480	50740480	+	Missense_Mutation	SNP	C	C	T	rs376933913		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:50740480C>T	ENST00000008391.3	+	8	1490	c.1262C>T	c.(1261-1263)gCg>gTg	p.A421V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GGCGGAGCGGCGGATTCTGGC	0.498																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1261-1263)gCg>gTg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	64.0	61.0	62.0		1262	5.3	0.0	6		62	0,8600	1.2+/-3.3	0,0,4300	no	missense	TFAP2D	NM_172238.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	421/453	50740480	2,13004	2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740480C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1262C>T	6.37:g.50740480C>T	ENSP00000008391:p.Ala421Val						p.A421V	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			8	1490	+	Lung NSC(77;0.0334)		421						Missense_Mutation	SNP	ENST00000008391.3	37	c.1262C>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355839	0.24598	4.54E-4	0.0	ENSG00000008197	ENST00000008391	D	0.97089	-4.24	5.31	5.31	0.75309	.	0.423240	0.25511	N	0.030161	D	0.88243	0.6384	N	0.08118	0	0.09310	N	0.999999	B	0.17038	0.02	B	0.12156	0.007	T	0.76870	-0.2799	10	0.30078	T	0.28	-6.0871	18.9906	0.92789	0.0:1.0:0.0:0.0	.	421	Q7Z6R9	AP2D_HUMAN	V	421	ENSP00000008391:A421V	ENSP00000008391:A421V	A	+	2	0	TFAP2D	50848439	0.986000	0.35501	0.027000	0.17364	0.820000	0.46376	7.487000	0.81328	2.489000	0.83994	0.467000	0.42956	GCG		0.498	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		43	49	0	0	0	1	0	43	49				
SLC34A1	6569	broad.mit.edu	37	5	176824890	176824890	+	Missense_Mutation	SNP	C	C	T	rs148272921		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:176824890C>T	ENST00000324417.5	+	13	1614	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	508					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAAACGCACGGCCAAGTAC	0.597																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1522-1524)aCg>aTg		solute carrier family 34 (type II sodium/phosphate contransporter), member 1		C	MET/THR	0,4406		0,0,2203	132.0	109.0	117.0		1523	4.3	0.7	5	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC34A1	NM_003052.4	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	508/640	176824890	1,13005	2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176824890C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1523C>T	5.37:g.176824890C>T	ENSP00000321424:p.Thr508Met					SLC34A1_ENST00000513614.1_3'UTR	p.T508M	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1614	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	508					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1523C>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116300	0.56505	0.0	1.16E-4	ENSG00000131183	ENST00000324417	T	0.37752	1.18	5.22	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.82823	2.61	0.53005	D	0.999965	D	0.76494	0.999	P	0.60415	0.874	T	0.68614	-0.5362	10	0.87932	D	0	-24.0799	15.7172	0.77677	0.0:0.8628:0.1372:0.0	.	508	Q06495	NPT2A_HUMAN	M	508	ENSP00000321424:T508M	ENSP00000321424:T508M	T	+	2	0	SLC34A1	176757496	1.000000	0.71417	0.709000	0.30452	0.128000	0.20619	7.726000	0.84824	1.168000	0.42723	0.305000	0.20034	ACG		0.597	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		62	94	0	0	0	1	0	62	94				
ST6GALNAC1	55808	broad.mit.edu	37	17	74622800	74622800	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:74622800G>A	ENST00000156626.7	-	5	1443	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	415					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CAGGGAGAAGGCGGTAAAGCC	0.537																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1243-1245)gCc>gTc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							267.0	281.0	276.0					17																	74622800		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74622800G>A	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1244C>T	17.37:g.74622800G>A	ENSP00000156626:p.Ala415Val						p.A415V	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			5	1443	-			415					Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.1244C>T	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586332	0.28268	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.30981	1.51;1.51	4.84	3.84	0.44239	.	0.065306	0.64402	D	0.000013	T	0.47469	0.1447	L	0.61218	1.895	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	T	0.34354	-0.9832	10	0.35671	T	0.21	-26.6122	12.398	0.55397	0.0839:0.0:0.9161:0.0	.	415	Q9NSC7	SIA7A_HUMAN	V	415	ENSP00000156626:A415V;ENSP00000351991:A415V	ENSP00000156626:A415V	A	-	2	0	ST6GALNAC1	72134395	1.000000	0.71417	0.985000	0.45067	0.341000	0.28922	5.160000	0.64929	2.410000	0.81850	0.436000	0.28706	GCC		0.537	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		268	334	0	0	0	1	0	268	334				
INTU	27152	broad.mit.edu	37	4	128608864	128608864	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr4:128608864T>G	ENST00000335251.6	+	8	1394	c.1291T>G	c.(1291-1293)Ttg>Gtg	p.L431V		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	431					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGTTCCTCGTTTGGATCATTT	0.443																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1291-1293)Ttg>Gtg		inturned planar cell polarity protein							188.0	181.0	183.0					4																	128608864		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128608864T>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1291T>G	4.37:g.128608864T>G	ENSP00000334003:p.Leu431Val						p.L431V	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			8	1394	+			431					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.1291T>G	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174765	0.57692	.	.	ENSG00000164066	ENST00000335251	T	0.33654	1.4	5.32	0.278	0.15673	.	0.000000	0.64402	D	0.000002	T	0.47266	0.1436	L	0.58428	1.81	0.80722	D	1	D	0.57899	0.981	P	0.61533	0.89	T	0.38950	-0.9637	10	0.45353	T	0.12	-7.6904	10.7117	0.45988	0.0:0.4344:0.0:0.5656	.	431	Q9ULD6	PDZD6_HUMAN	V	431	ENSP00000334003:L431V	ENSP00000334003:L431V	L	+	1	2	INTU	128828314	0.722000	0.28017	0.932000	0.37286	0.878000	0.50629	0.183000	0.16919	0.157000	0.19338	0.477000	0.44152	TTG		0.443	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		10	310	0	0	0	1	0	10	310				
MAML1	9794	broad.mit.edu	37	5	179196082	179196082	+	Missense_Mutation	SNP	G	G	A	rs144664410	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:179196082G>A	ENST00000292599.3	+	3	2226	c.1963G>A	c.(1963-1965)Gcg>Acg	p.A655T	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACCTTCTCGCGGAACAGGT	0.512													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21243	0.0		0.0	False		,,,				2504	0.0					ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1963-1965)Gcg>Acg		mastermind-like 1 (Drosophila)		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	63.0	59.0	60.0		1963	4.9	1.0	5	dbSNP_134	60	0,8600		0,0,4300	no	missense	MAML1	NM_014757.4	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	655/1017	179196082	2,13004	2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179196082G>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1963G>A	5.37:g.179196082G>A	ENSP00000292599:p.Ala655Thr					MAML1_ENST00000503050.1_3'UTR	p.A655T	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	2226	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	655						Missense_Mutation	SNP	ENST00000292599.3	37	c.1963G>A	CCDS34315.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	18.77	3.694477	0.68386	4.54E-4	0.0	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.53640	0.61	4.89	4.89	0.63831	.	0.486257	0.19492	N	0.112949	T	0.42562	0.1208	M	0.61703	1.905	0.47065	D	0.999305	P;P	0.51791	0.948;0.643	B;B	0.37047	0.24;0.084	T	0.45789	-0.9237	10	0.13470	T	0.59	-0.01	17.6492	0.88158	0.0:0.0:1.0:0.0	.	692;655	Q59GH4;Q92585	.;MAML1_HUMAN	T	655;692	ENSP00000292599:A655T	ENSP00000292599:A655T	A	+	1	0	MAML1	179128688	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.191000	0.77763	2.257000	0.74773	0.561000	0.74099	GCG		0.512	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		21	114	0	0	0	1	0	21	114				
REXO1	57455	broad.mit.edu	37	19	1827422	1827422	+	Missense_Mutation	SNP	G	G	A	rs200925900		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:1827422G>A	ENST00000170168.4	-	2	1460	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	CTB-31O20.4_ENST00000587741.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000593201.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	456						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGGCCGCCGCGCTGGCCGG	0.736													.|||	1	0.000199681	0.0	0.0	5008	,	,		9213	0.001		0.0	False		,,,				2504	0.0					ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1366-1368)Cgg>Tgg		REX1, RNA exonuclease 1 homolog (S. cerevisiae)																																				SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827422G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1366C>T	19.37:g.1827422G>A	ENSP00000170168:p.Arg456Trp						p.R456W	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1460	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	456					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.1366C>T	CCDS32866.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.467	0.271185	0.10349	.	.	ENSG00000079313	ENST00000170168	T	0.12255	2.7	2.22	-0.578	0.11724	.	0.956135	0.08537	U	0.931153	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	P	0.51057	0.941	B	0.34452	0.183	T	0.31971	-0.9924	10	0.56958	D	0.05	-5.0E-4	4.5504	0.12108	0.1567:0.0:0.559:0.2842	.	456	Q8N1G1	REXO1_HUMAN	W	456	ENSP00000170168:R456W	ENSP00000170168:R456W	R	-	1	2	REXO1	1778422	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.382000	0.07408	0.152000	0.19188	0.555000	0.69702	CGG		0.736	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		3	20	0	0	0	1	0	3	20				
ATIC	471	broad.mit.edu	37	2	216198162	216198162	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:216198162G>A	ENST00000236959.9	+	9	1230	c.904G>A	c.(904-906)Gca>Aca	p.A302T	ATIC_ENST00000435675.1_Missense_Mutation_p.A301T|ATIC_ENST00000540518.1_Missense_Mutation_p.A243T	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	302					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CATCTCAGCGGCATATGCAAG	0.403			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(901-903)Gca>Aca		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						90.0	86.0	87.0					2																	216198162		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216198162G>A		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.904G>A	2.37:g.216198162G>A	ENSP00000236959:p.Ala302Thr					ATIC_ENST00000540518.1_Missense_Mutation_p.A243T|ATIC_ENST00000236959.9_Missense_Mutation_p.A302T	p.A301T			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	8	1292	+		Renal(323;0.229)	302					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.901G>A	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170618	0.78452	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675	D;D;D	0.85556	-2.0;-2.0;-2.0	5.84	5.84	0.93424	AICAR transformylase domain (1);Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	H	0.98559	4.265	0.80722	D	1	P;D	0.54964	0.951;0.969	P;P	0.60682	0.878;0.811	D	0.96762	0.9562	10	0.87932	D	0	-13.7888	19.7343	0.96195	0.0:0.0:1.0:0.0	.	301;302	E9PBU3;P31939	.;PUR9_HUMAN	T	302;243;301	ENSP00000236959:A302T;ENSP00000440523:A243T;ENSP00000415935:A301T	ENSP00000236959:A302T	A	+	1	0	ATIC	215906407	1.000000	0.71417	0.917000	0.36280	0.206000	0.24218	9.703000	0.98714	2.765000	0.95021	0.557000	0.71058	GCA		0.403	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		4	176	0	0	0	1	0	4	176				
SREBF1	6720	broad.mit.edu	37	17	17718610	17718610	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:17718610C>T	ENST00000261646.5	-	13	2601	c.2417G>A	c.(2416-2418)cGg>cAg	p.R806Q	SREBF1_ENST00000355815.4_Missense_Mutation_p.R836Q|SREBF1_ENST00000338854.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000395757.1_Missense_Mutation_p.R552Q|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	806					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GAGATGTTCCCGGAATAGCTG	0.617																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(2506-2508)cGg>cAg		sterol regulatory element binding transcription factor 1							100.0	99.0	100.0					17																	17718610		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17718610C>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2417G>A	17.37:g.17718610C>T	ENSP00000261646:p.Arg806Gln					SREBF1_ENST00000338854.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000261646.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000395757.1_Missense_Mutation_p.R552Q	p.R836Q	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			14	2676	-			806					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.2507G>A	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.962767	0.74016	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161;ENST00000447641	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.69	5.69	0.88448	.	0.059066	0.64402	D	0.000003	T	0.44498	0.1296	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.68483	0.836;0.921;0.958	T	0.18085	-1.0348	10	0.30078	T	0.28	-8.4593	18.5716	0.91137	0.0:1.0:0.0:0.0	.	806;836;425	P36956;P36956-4;A8MTU8	SRBP1_HUMAN;.;.	Q	806;836;806;552;425;643;732;131	ENSP00000345822:R806Q;ENSP00000348069:R836Q;ENSP00000261646:R806Q;ENSP00000379106:R552Q	ENSP00000261646:R806Q	R	-	2	0	SREBF1	17659335	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	5.728000	0.68531	2.678000	0.91216	0.556000	0.70494	CGG		0.617	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		56	75	0	0	0	1	0	56	75				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	91	0	0	0	1	0	4	91				
KRT86	3892	broad.mit.edu	37	12	52695806	52695806	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:52695806T>A	ENST00000423955.2	+	3	284	c.106T>A	c.(106-108)Tcc>Acc	p.S36T	KRT86_ENST00000544024.1_Missense_Mutation_p.S36T|KRT86_ENST00000293525.5_Missense_Mutation_p.S36T			O43790	KRT86_HUMAN	keratin 86	36	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGTGGCATCTCCTGCTACCG	0.726																																						ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(106-108)Tcc>Acc		keratin 86							14.0	18.0	17.0					12																	52695806		2002	4119	6121	SO:0001583	missense	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52695806T>A	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.106T>A	12.37:g.52695806T>A	ENSP00000444533:p.Ser36Thr					KRT86_ENST00000423955.2_Missense_Mutation_p.S36T|KRT86_ENST00000544024.1_Missense_Mutation_p.S36T	p.S36T	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	158	+			36			Head.		P78387	Missense_Mutation	SNP	ENST00000423955.2	37	c.106T>A	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968339	0.53614	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.82526	-1.62;-1.62;-1.62	5.0	3.81	0.43845	.	0.000000	0.34314	U	0.004068	T	0.81044	0.4741	M	0.76574	2.34	0.25389	N	0.988542	B	0.15930	0.015	B	0.19391	0.025	T	0.71002	-0.4718	10	0.44086	T	0.13	.	9.6355	0.39804	0.0:0.0:0.3711:0.6289	.	36	O43790	KRT86_HUMAN	T	36	ENSP00000443169:S36T;ENSP00000444533:S36T;ENSP00000293525:S36T	ENSP00000293525:S36T	S	+	1	0	AC021066.1;KRT86	50982073	0.001000	0.12720	1.000000	0.80357	0.968000	0.65278	0.032000	0.13732	0.718000	0.32166	0.519000	0.50382	TCC		0.726	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		39	47	0	0	0	1	0	39	47				
KRT25	147183	broad.mit.edu	37	17	38907516	38907516	+	Silent	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:38907516G>A	ENST00000312150.4	-	4	792	c.732C>T	c.(730-732)ccC>ccT	p.P244P		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GGTCCACCCCGGGGGCTGCGT	0.577																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(730-732)ccC>ccT		keratin 25							88.0	79.0	82.0					17																	38907516		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907516G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.732C>T	17.37:g.38907516G>A							p.P244P	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			4	792	-		Breast(137;0.00526)	244			Linker 12.|Rod.			Silent	SNP	ENST00000312150.4	37	c.732C>T	CCDS11373.1																																																																																				0.577	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		49	79	0	0	0	1	0	49	79				
TIAM2	26230	broad.mit.edu	37	6	155451307	155451307	+	Missense_Mutation	SNP	G	G	A	rs146734733		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:155451307G>A	ENST00000461783.3	+	6	2223	c.950G>A	c.(949-951)cGc>cAc	p.R317H	TIAM2_ENST00000318981.5_Missense_Mutation_p.R317H|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.R317H|TIAM2_ENST00000529824.2_Missense_Mutation_p.R317H|TIAM2_ENST00000456144.1_Missense_Mutation_p.R317H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	317					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCAGGTATCCGCCTTTCTGAT	0.572																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(949-951)cGc>cAc		T-cell lymphoma invasion and metastasis 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	66.0	68.0		950	4.9	0.1	6	dbSNP_134	68	0,8600		0,0,4300	no	missense	TIAM2	NM_012454.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	317/1702	155451307	1,13005	2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451307G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.950G>A	6.37:g.155451307G>A	ENSP00000437188:p.Arg317His					TIAM2_ENST00000318981.5_Missense_Mutation_p.R317H|TIAM2_ENST00000456144.1_Missense_Mutation_p.R317H|TIAM2_ENST00000360366.4_Missense_Mutation_p.R317H|TIAM2_ENST00000529824.2_Missense_Mutation_p.R317H|TIAM2_ENST00000367174.2_5'UTR	p.R317H			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2223	+		Ovarian(120;0.196)	317					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.950G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803768	0.16467	2.27E-4	0.0	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05786	3.5;3.39;3.45;3.5;3.51;3.45	4.86	4.86	0.63082	.	0.550454	0.19835	N	0.104995	T	0.04770	0.0129	M	0.71581	2.175	0.41426	D	0.987836	D	0.53151	0.958	B	0.36989	0.238	T	0.43861	-0.9365	10	0.37606	T	0.19	.	16.567	0.84601	0.0:0.0:1.0:0.0	.	317	Q8IVF5	TIAM2_HUMAN	H	317;563;317;317;317;317;317	ENSP00000437188:R317H;ENSP00000434901:R317H;ENSP00000407746:R317H;ENSP00000327315:R317H;ENSP00000353528:R317H;ENSP00000433348:R317H	ENSP00000327315:R317H	R	+	2	0	TIAM2	155492999	0.998000	0.40836	0.070000	0.20053	0.005000	0.04900	4.264000	0.58859	2.420000	0.82092	0.563000	0.77884	CGC		0.572	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		69	50	0	0	0	1	0	69	50				
EIF5A	1984	broad.mit.edu	37	17	7214424	7214424	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:7214424A>T	ENST00000336458.8	+	3	654	c.253A>T	c.(253-255)Aaa>Taa	p.K85*	EIF5A_ENST00000416016.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.K115*|EIF5A_ENST00000419711.2_Nonsense_Mutation_p.K85*	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	85	DOHH-binding.			K -> R (in Ref. 3; AAD14095). {ECO:0000305}.	apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						CCCCAACATCAAAAGGAATGA	0.468																																						ENST00000336458.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(253-255)Aaa>Taa		eukaryotic translation initiation factor 5A							88.0	76.0	80.0					17																	7214424		2203	4300	6503	SO:0001587	stop_gained	1984				induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7214424A>T		CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.253A>T	17.37:g.7214424A>T	ENSP00000336776:p.Lys85*					EIF5A_ENST00000419711.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.K115*|EIF5A_ENST00000416016.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.K85*	p.K85*	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			3	654	+			85	K -> R (in Ref. 3; AAD14095).		DOHH-binding.		A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Nonsense_Mutation	SNP	ENST00000336458.8	37	c.253A>T	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	A	37	6.078387	0.97262	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.1824	13.1271	0.59363	1.0:0.0:0.0:0.0	.	.	.	.	X	115;85;85;85	.	ENSP00000336702:K115X	K	+	1	0	EIF5A	7155148	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.648000	0.74359	2.015000	0.59207	0.459000	0.35465	AAA		0.468	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3	NM_001970		4	222	0	0	0	1	0	4	222				
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363																																						ENST00000259569.5																			4	Substitution - Missense(4)	p.I984L(4)	lung(2)|endometrium(1)|kidney(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2950-2952)Ata>Cta		RAN binding protein 6							110.0	103.0	106.0					9																	6012658		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012658T>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2950A>C	9.37:g.6012658T>G	ENSP00000259569:p.Ile984Leu						p.I984L	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2960	-		Acute lymphoblastic leukemia(23;0.158)	984					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.2950A>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451466	0.26074	.	.	ENSG00000137040	ENST00000259569	T	0.08807	3.05	4.79	2.63	0.31362	Armadillo-like helical (1);Armadillo-type fold (1);	0.121890	0.53938	D	0.000050	T	0.03263	0.0095	N	0.11341	0.13	0.36993	D	0.894861	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.16722	0.016;0.011;0.016	T	0.36648	-0.9739	10	0.06891	T	0.86	-4.4735	5.2001	0.15258	0.0:0.4849:0.0:0.5151	.	151;572;984	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	L	984	ENSP00000259569:I984L	ENSP00000259569:I984L	I	-	1	0	RANBP6	6002658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.090000	0.50191	0.682000	0.31407	0.533000	0.62120	ATA		0.363	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		4	221	0	0	0	1	0	4	221				
CCDC171	203238	broad.mit.edu	37	9	15695278	15695278	+	Missense_Mutation	SNP	G	G	A	rs139248677		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:15695278G>A	ENST00000380701.3	+	11	1589	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	CCDC171_ENST00000297641.3_Missense_Mutation_p.V421M	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	421																	TGAAAATAACGTGAAAGAATT	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		20427	0.0		0.001	False		,,,				2504	0.0					ENST00000380701.3																			0											c.(1261-1263)Gtg>Atg		coiled-coil domain containing 171		G	MET/VAL	0,4406		0,0,2203	164.0	154.0	157.0		1261	5.6	1.0	9	dbSNP_134	157	7,8593	5.7+/-21.5	0,7,4293	yes	missense	C9orf93	NM_173550.2	21	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	benign	421/1327	15695278	7,12999	2203	4300	6503	SO:0001583	missense	203238							g.chr9:15695278G>A	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1261G>A	9.37:g.15695278G>A	ENSP00000370077:p.Val421Met					CCDC171_ENST00000297641.3_Missense_Mutation_p.V421M	p.V421M	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			11	1589	+			421					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.1261G>A	CCDS6481.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.27	2.186166	0.38609	0.0	8.14E-4	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.14640	2.49;2.49	5.55	5.55	0.83447	.	0.182432	0.43747	D	0.000525	T	0.06188	0.0160	N	0.08118	0	0.80722	D	1	B;B;B	0.33494	0.414;0.414;0.414	B;B;B	0.21360	0.034;0.034;0.034	T	0.34254	-0.9836	10	0.45353	T	0.12	-5.6069	9.7484	0.40462	0.1599:0.0:0.8401:0.0	.	421;421;421	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	M	421	ENSP00000297641:V421M;ENSP00000370077:V421M	ENSP00000297641:V421M	V	+	1	0	C9orf93	15685278	1.000000	0.71417	0.990000	0.47175	0.860000	0.49131	3.306000	0.51881	2.610000	0.88304	0.591000	0.81541	GTG		0.383	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		92	136	0	0	0	1	0	92	136				
RYR2	6262	broad.mit.edu	37	1	237947385	237947385	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:237947385G>A	ENST00000366574.2	+	90	12690	c.12373G>A	c.(12373-12375)Gtc>Atc	p.V4125I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V4131I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4109I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4125					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V4123I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAGAGAGCGTCCTGAATTA	0.512																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.V4123I(1)	upper_aerodigestive_tract(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12373-12375)Gtc>Atc		ryanodine receptor 2 (cardiac)							63.0	63.0	63.0					1																	237947385		1920	4137	6057	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947385G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12373G>A	1.37:g.237947385G>A	ENSP00000355533:p.Val4125Ile					RYR2_ENST00000360064.6_Missense_Mutation_p.V4131I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4109I	p.V4125I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12690	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4125					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12373G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449966	0.43531	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96265	-3.96;-3.96;-3.96	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000029	D	0.96237	0.8773	L	0.34521	1.04	0.80722	D	1	D;P	0.76494	0.999;0.89	D;B	0.76071	0.987;0.153	D	0.95115	0.8241	10	0.36615	T	0.2	.	12.7826	0.57485	0.0749:0.0:0.9251:0.0	.	1099;4125	B4DGV4;Q92736	.;RYR2_HUMAN	I	4125;4131;4109;1099	ENSP00000355533:V4125I;ENSP00000353174:V4131I;ENSP00000443798:V4109I	ENSP00000353174:V4131I	V	+	1	0	RYR2	236014008	1.000000	0.71417	0.990000	0.47175	0.762000	0.43233	8.008000	0.88588	2.610000	0.88304	0.655000	0.94253	GTC		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		48	75	0	0	0	1	0	48	75				
MUC4	4585	broad.mit.edu	37	3	195505813	195505813	+	Missense_Mutation	SNP	T	T	C	rs562396488	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:195505813T>C	ENST00000463781.3	-	2	13097	c.12638A>G	c.(12637-12639)gAc>gGc	p.D4213G	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D4213G(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGG	0.592													.|||	73	0.0145767	0.0151	0.0144	5008	,	,		14193	0.0159		0.0189	False		,,,				2504	0.0082					ENST00000463781.3																			2	Substitution - Missense(2)	p.D4213G(2)	endometrium(2)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12637-12639)gAc>gGc		mucin 4, cell surface associated							26.0	23.0	24.0					3																	195505813		690	1577	2267	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505813T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12638A>G	3.37:g.195505813T>C	ENSP00000417498:p.Asp4213Gly					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G|MUC4_ENST00000346145.4_Intron	p.D4213G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13097	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	970					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12638A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.010	-1.784645	0.00628	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.44;1.46	.	.	.	.	.	.	.	.	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24190	-1.0167	7	.	.	.	.	3.8908	0.09117	0.0:0.332:0.0:0.668	.	4085	E7ESK3	.	G	4213	ENSP00000417498:D4213G;ENSP00000420243:D4213G	.	D	-	2	0	MUC4	196990592	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.874000	0.01133	-1.876000	0.00548	GAC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	16	0	0	0	1	0	3	16				
ATXN2L	11273	broad.mit.edu	37	16	28842379	28842379	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:28842379C>A	ENST00000336783.4	+	10	1474	c.1307C>A	c.(1306-1308)cCa>cAa	p.P436Q	ATXN2L_ENST00000570200.1_Missense_Mutation_p.P436Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P436Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P436Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P436Q|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P436Q|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P436Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	436					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACTTCTGTTCCACCTCCTCCT	0.473																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1306-1308)cCa>cAa		ataxin 2-like							52.0	47.0	49.0					16																	28842379		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28842379C>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1307C>A	16.37:g.28842379C>A	ENSP00000338718:p.Pro436Gln					ATXN2L_ENST00000395547.2_Missense_Mutation_p.P436Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P436Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P436Q|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P436Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P436Q|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P436Q	p.P436Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			10	1474	+			436					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.1307C>A	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	25.1	4.605130	0.87157	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.48201	0.83;0.84;0.82;0.85;0.82	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.51618	0.1685	L	0.47716	1.5	0.41359	D	0.987418	P;D;P;P;P;P;P;D	0.53745	0.899;0.962;0.838;0.838;0.899;0.899;0.838;0.962	P;P;B;B;P;P;B;B	0.49276	0.466;0.605;0.276;0.202;0.466;0.466;0.276;0.367	T	0.46665	-0.9175	10	0.35671	T	0.21	-8.5066	18.2654	0.90051	0.0:1.0:0.0:0.0	.	436;436;436;436;436;436;436;436	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	Q	436	ENSP00000341459:P436Q;ENSP00000378917:P436Q;ENSP00000338718:P436Q;ENSP00000372133:P436Q;ENSP00000315650:P436Q	ENSP00000315650:P436Q	P	+	2	0	ATXN2L	28749880	1.000000	0.71417	0.966000	0.40874	0.972000	0.66771	5.470000	0.66756	2.688000	0.91661	0.563000	0.77884	CCA		0.473	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		3	36	1	0	1	1	1	3	36				
P2RY4	5030	broad.mit.edu	37	X	69478764	69478764	+	Silent	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:69478764C>T	ENST00000374519.2	-	1	890	c.711G>A	c.(709-711)tcG>tcA	p.S237S		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	237					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGCGAGAAGACGACTGTGCAG	0.577																																						ENST00000374519.2																			0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(709-711)tcG>tcA		pyrimidinergic receptor P2Y, G-protein coupled, 4							72.0	63.0	66.0					X																	69478764		2203	4300	6503	SO:0001819	synonymous_variant	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478764C>T	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.711G>A	X.37:g.69478764C>T							p.S237S	NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN			1	890	-			237					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Silent	SNP	ENST00000374519.2	37	c.711G>A	CCDS14398.1																																																																																				0.577	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		44	27	0	0	0	1	0	44	27				
DSC3	1825	broad.mit.edu	37	18	28576872	28576872	+	Missense_Mutation	SNP	C	C	T	rs138126171		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:28576872C>T	ENST00000360428.4	-	15	2458	c.2378G>A	c.(2377-2379)cGg>cAg	p.R793Q	DSC3_ENST00000434452.1_Missense_Mutation_p.R793Q	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	793					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCCAGCCCCCCGGCAGGATTC	0.507																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2377-2379)cGg>cAg		desmocollin 3		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	80.0	86.0		2378,2378	-1.8	0.0	18	dbSNP_134	86	0,8600		0,0,4300	no	missense,missense	DSC3	NM_001941.3,NM_024423.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	793/897,793/840	28576872	1,13005	2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28576872C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2378G>A	18.37:g.28576872C>T	ENSP00000353608:p.Arg793Gln					DSC3_ENST00000360428.4_Missense_Mutation_p.R793Q	p.R793Q	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		15	2532	-			793					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2378G>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	8.821	0.937613	0.18206	2.27E-4	0.0	ENSG00000134762	ENST00000360428;ENST00000434452	D;T	0.83992	-1.79;0.47	4.54	-1.77	0.07982	Cadherin, cytoplasmic domain (1);	0.569513	0.13165	N	0.408732	T	0.73659	0.3615	L	0.38175	1.15	0.09310	N	0.999992	B;B	0.14805	0.006;0.011	B;B	0.16289	0.015;0.013	T	0.60100	-0.7329	10	0.49607	T	0.09	.	12.2745	0.54726	0.0:0.4756:0.0:0.5244	.	793;793	Q14574;Q14574-2	DSC3_HUMAN;.	Q	793	ENSP00000353608:R793Q;ENSP00000392068:R793Q	ENSP00000353608:R793Q	R	-	2	0	DSC3	26830870	0.001000	0.12720	0.008000	0.14137	0.734000	0.41952	-0.409000	0.07160	-0.502000	0.06596	-0.137000	0.14449	CGG		0.507	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		37	59	0	0	0	1	0	37	59				
TYRO3	7301	broad.mit.edu	37	15	41865285	41865285	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr15:41865285G>A	ENST00000263798.3	+	16	2185	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.R609Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	654	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTCATCCACCGAGACCTGGCT	0.582																																						ENST00000263798.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(1960-1962)cGa>cAa		TYRO3 protein tyrosine kinase							69.0	63.0	65.0					15																	41865285		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41865285G>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1961G>A	15.37:g.41865285G>A	ENSP00000263798:p.Arg654Gln					TYRO3_ENST00000559066.1_Missense_Mutation_p.R609Q	p.R654Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	16	2185	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	654			Protein kinase.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.1961G>A	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660423	0.96734	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.74947	-0.89	5.61	5.61	0.85477	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.270575	0.19234	N	0.119338	D	0.89047	0.6604	H	0.98786	4.33	0.80722	D	1	D	0.61080	0.989	P	0.48425	0.577	D	0.93407	0.6765	10	0.87932	D	0	-1.6271	19.7024	0.96060	0.0:0.0:1.0:0.0	.	654	Q06418	TYRO3_HUMAN	Q	586;654	ENSP00000263798:R654Q	ENSP00000263798:R654Q	R	+	2	0	TYRO3	39652577	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.675000	0.91044	0.650000	0.86243	CGA		0.582	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			38	54	0	0	0	1	0	38	54				
IFT172	26160	broad.mit.edu	37	2	27688692	27688692	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:27688692C>G	ENST00000260570.3	-	17	1853	c.1750G>C	c.(1750-1752)Ggt>Cgt	p.G584R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	584					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTAGTCACACCTTCCATCACC	0.517																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(1750-1752)Ggt>Cgt		intraflagellar transport 172 homolog (Chlamydomonas)							416.0	391.0	399.0					2																	27688692		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27688692C>G	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1750G>C	2.37:g.27688692C>G	ENSP00000260570:p.Gly584Arg						p.G584R	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			17	1853	-	Acute lymphoblastic leukemia(172;0.155)		584					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.1750G>C	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220720	0.79464	.	.	ENSG00000138002	ENST00000260570	T	0.69685	-0.42	5.48	5.48	0.80851	.	0.046737	0.85682	D	0.000000	D	0.84804	0.5553	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86199	0.1617	10	0.49607	T	0.09	-13.7582	17.8997	0.88900	0.0:1.0:0.0:0.0	.	584	Q9UG01	IF172_HUMAN	R	584	ENSP00000260570:G584R	ENSP00000260570:G584R	G	-	1	0	IFT172	27542196	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	7.136000	0.77285	2.589000	0.87451	0.655000	0.94253	GGT		0.517	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		312	439	0	0	0	1	0	312	439				
TENM1	10178	broad.mit.edu	37	X	123516546	123516546	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:123516546T>C	ENST00000371130.3	-	30	7456	c.7393A>G	c.(7393-7395)Aaa>Gaa	p.K2465E	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.K2472E	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2465					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCTTGAGTTTTTGTCTGAAGC	0.363																																						ENST00000422452.2																			0											c.(7414-7416)Aaa>Gaa		teneurin transmembrane protein 1							95.0	102.0	99.0					X																	123516546		2203	4299	6502	SO:0001583	missense	10178							g.chrX:123516546T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7393A>G	X.37:g.123516546T>C	ENSP00000360171:p.Lys2465Glu					TENM1_ENST00000371130.3_Missense_Mutation_p.K2465E|STAG2_ENST00000469481.1_Intron	p.K2472E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					31	7477	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7414A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.760597	0.31137	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86030	-2.06;-2.03	5.61	4.44	0.53790	.	0.183068	0.50627	D	0.000109	T	0.73353	0.3576	L	0.33485	1.01	0.37488	D	0.916289	B;B;P	0.39940	0.278;0.07;0.696	B;B;B	0.35931	0.057;0.035;0.214	T	0.69764	-0.5057	10	0.26408	T	0.33	.	6.8084	0.23790	0.0:0.0775:0.1491:0.7734	.	2471;2472;2465	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	E	2465;2472	ENSP00000360171:K2465E;ENSP00000403954:K2472E	ENSP00000360171:K2465E	K	-	1	0	ODZ1	123344227	1.000000	0.71417	0.996000	0.52242	0.632000	0.37999	4.986000	0.63851	0.755000	0.32990	0.486000	0.48141	AAA		0.363	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		131	233	0	0	0	1	0	131	233				
SPG7	6687	broad.mit.edu	37	16	89592756	89592756	+	Missense_Mutation	SNP	G	G	A	rs147673636		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:89592756G>A	ENST00000268704.2	+	5	653	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	SPG7_ENST00000341316.2_Missense_Mutation_p.R213Q	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	213					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TTGATGTACCGAATGCAGGTT	0.532																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(637-639)cGa>cAa		spastic paraplegia 7 (pure and complicated autosomal recessive)		G	GLN/ARG,GLN/ARG	3,4393	6.2+/-15.9	0,3,2195	129.0	119.0	122.0		638,638	4.4	1.0	16	dbSNP_134	122	0,8600		0,0,4300	no	missense,missense	SPG7	NM_003119.2,NM_199367.1	43,43	0,3,6495	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging,probably-damaging	213/796,213/490	89592756	3,12993	2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89592756G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.638G>A	16.37:g.89592756G>A	ENSP00000268704:p.Arg213Gln					SPG7_ENST00000341316.2_Missense_Mutation_p.R213Q	p.R213Q	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	5	653	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	213					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.638G>A	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860946	0.71949	6.82E-4	0.0	ENSG00000197912	ENST00000268704;ENST00000341316;ENST00000312632	T;T	0.75704	-0.96;-0.96	5.35	4.39	0.52855	Peptidase M41, FtsH extracellular (1);Peptidase M41, FtsH (1);	0.052309	0.64402	D	0.000001	T	0.72969	0.3527	L	0.29908	0.895	0.42855	D	0.994094	P;D	0.67145	0.911;0.996	P;P	0.57620	0.545;0.824	T	0.70941	-0.4735	10	0.30854	T	0.27	-1.0178	11.9172	0.52771	0.0:0.1406:0.7301:0.1293	.	213;213	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	Q	213;213;190	ENSP00000268704:R213Q;ENSP00000341157:R213Q	ENSP00000268704:R213Q	R	+	2	0	SPG7	88120257	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	4.387000	0.59626	1.268000	0.44264	0.456000	0.33151	CGA		0.532	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		4	244	0	0	0	1	0	4	244				
RASSF9	9182	broad.mit.edu	37	12	86199652	86199652	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:86199652G>A	ENST00000361228.3	-	2	504	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	46	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGTGGTGCGTTTAGTCAGC	0.453																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)Cgc>Tgc		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							120.0	119.0	119.0					12																	86199652		1938	4168	6106	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199652G>A		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.136C>T	12.37:g.86199652G>A	ENSP00000354884:p.Arg46Cys						p.R46C	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	504	-			46			Ras-associating.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.136C>T	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900455	0.72754	.	.	ENSG00000198774	ENST00000361228	T	0.52983	0.64	4.82	4.82	0.62117	Ras-association (2);	0.069647	0.64402	D	0.000010	T	0.66287	0.2774	M	0.78916	2.43	0.54753	D	0.999989	D	0.69078	0.997	P	0.57283	0.817	T	0.72769	-0.4193	10	0.87932	D	0	-18.6986	18.2669	0.90055	0.0:0.0:1.0:0.0	.	46	O75901	RASF9_HUMAN	C	46	ENSP00000354884:R46C	ENSP00000354884:R46C	R	-	1	0	RASSF9	84723783	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	6.552000	0.73914	2.397000	0.81536	0.514000	0.50259	CGC		0.453	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			94	103	0	0	0	1	0	94	103				
SAGE1	55511	broad.mit.edu	37	X	134989501	134989501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:134989501G>T	ENST00000370709.3	+	8	907	c.907G>T	c.(907-909)Gag>Tag	p.E303*	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.E303*|SAGE1_ENST00000535938.1_Nonsense_Mutation_p.E303*			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	303						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGTCTGTGAAGAGAAGATGGA	0.428																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(907-909)Gag>Tag		sarcoma antigen 1							130.0	106.0	114.0					X																	134989501		2203	4300	6503	SO:0001587	stop_gained	55511							g.chrX:134989501G>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.907G>T	X.37:g.134989501G>T	ENSP00000359743:p.Glu303*					SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.E303*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.E303*	p.E303*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			9	1074	+	Acute lymphoblastic leukemia(192;0.000127)		303					Q5JNW0	Nonsense_Mutation	SNP	ENST00000370709.3	37	c.907G>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775398	0.31411	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	.	.	.	1.56	-0.379	0.12493	.	0.549741	0.18011	U	0.154560	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	1.9925	0.03449	0.2185:0.0:0.4664:0.3151	.	.	.	.	X	303	.	ENSP00000323191:E303X	E	+	1	0	SAGE1	134817167	0.986000	0.35501	0.009000	0.14445	0.002000	0.02628	0.839000	0.27586	-0.220000	0.09988	-1.103000	0.02113	GAG		0.428	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		5	272	1	0	0.0215528	1	0.0222059	5	272				
CDHR2	54825	broad.mit.edu	37	5	175995743	175995743	+	Silent	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:175995743C>T	ENST00000510636.1	+	4	463	c.189C>T	c.(187-189)agC>agT	p.S63S	CDHR2_ENST00000506348.1_Silent_p.S63S|CDHR2_ENST00000261944.5_Silent_p.S63S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	63	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATGGGATGAGCGGCCCCAATG	0.612																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(187-189)agC>agT		cadherin-related family member 2							106.0	101.0	103.0					5																	175995743		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:175995743C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.189C>T	5.37:g.175995743C>T						CDHR2_ENST00000261944.5_Silent_p.S63S|CDHR2_ENST00000506348.1_Silent_p.S63S	p.S63S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			4	463	+			63			Cadherin 1.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.189C>T	CCDS34297.1																																																																																				0.612	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		4	142	0	0	0	1	0	4	142				
POM121L9P	29774	broad.mit.edu	37	22	24659536	24659536	+	RNA	SNP	C	C	T	rs564427351	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr22:24659536C>T	ENST00000414583.2	+	0	3061					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		GATCTCATCGCGGACACCACT	0.512													C|||	2	0.000399361	0.0008	0.0	5008	,	,		24328	0.0		0.001	False		,,,				2504	0.0					ENST00000414583.2																			0																																																			0							g.chr22:24659536C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659536C>T								NR_003714.1						0	3061	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.512	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	44	0	0	0	1	0	6	44				
SH2B1	25970	broad.mit.edu	37	16	28883967	28883967	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:28883967C>T	ENST00000322610.8	+	10	2277	c.1838C>T	c.(1837-1839)tCg>tTg	p.S613L	SH2B1_ENST00000545570.1_Missense_Mutation_p.S303L|SH2B1_ENST00000337120.5_Missense_Mutation_p.S613L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.S613L|SH2B1_ENST00000359285.5_Missense_Mutation_p.S613L|SH2B1_ENST00000538342.1_Missense_Mutation_p.S277L			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	613	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTTTGGAGTCGGGAGGCTCC	0.612																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1837-1839)tCg>tTg		SH2B adaptor protein 1							116.0	102.0	107.0					16																	28883967		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883967C>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1838C>T	16.37:g.28883967C>T	ENSP00000321221:p.Ser613Leu					SH2B1_ENST00000545570.1_Missense_Mutation_p.S303L|SH2B1_ENST00000322610.8_Missense_Mutation_p.S613L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Missense_Mutation_p.S277L|SH2B1_ENST00000395532.4_Missense_Mutation_p.S613L|SH2B1_ENST00000359285.5_Missense_Mutation_p.S613L	p.S613L	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			7	5129	+			613			SH2.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.1838C>T	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	c	17.26	3.343554	0.61073	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.1	4.1	0.47936	SH2 motif (1);	0.160795	0.40908	N	0.001000	T	0.70535	0.3235	M	0.88181	2.935	0.53688	D	0.999974	D;P;P;P;P	0.60575	0.988;0.91;0.823;0.913;0.952	P;B;B;B;B	0.50314	0.637;0.231;0.306;0.23;0.127	T	0.78831	-0.2049	10	0.72032	D	0.01	-11.4514	13.8169	0.63297	0.1538:0.8462:0.0:0.0	.	277;303;613;613;613	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	L	613;303;613;277;613;613	ENSP00000321221:S613L;ENSP00000440354:S303L;ENSP00000352232:S613L;ENSP00000438784:S277L;ENSP00000378903:S613L;ENSP00000337163:S613L	ENSP00000321221:S613L	S	+	2	0	SH2B1	28791468	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	3.564000	0.53791	2.363000	0.80096	0.558000	0.71614	TCG		0.612	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		61	59	0	0	0	1	0	61	59				
MAP3K6	9064	broad.mit.edu	37	1	27682984	27682984	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:27682984C>T	ENST00000493901.1	-	27	3771	c.3532G>A	c.(3532-3534)Gaa>Aaa	p.E1178K	MAP3K6_ENST00000357582.2_Missense_Mutation_p.E1178K|MAP3K6_ENST00000374040.3_Missense_Mutation_p.E1170K	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1178					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCCAGGATTTCGCGCAGCCTG	0.627																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(3508-3510)Gaa>Aaa		mitogen-activated protein kinase kinase kinase 6							31.0	35.0	34.0					1																	27682984		2203	4300	6503	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27682984C>T	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3532G>A	1.37:g.27682984C>T	ENSP00000419591:p.Glu1178Lys					MAP3K6_ENST00000493901.1_Missense_Mutation_p.E1178K|MAP3K6_ENST00000357582.2_Missense_Mutation_p.E1178K	p.E1170K			O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	25	3768	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1178					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.3508G>A	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304964	0.40795	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000374036;ENST00000357582	T;T;T	0.69306	-0.39;-0.39;-0.39	5.45	1.47	0.22746	.	.	.	.	.	T	0.50137	0.1598	L	0.43152	1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34279	-0.9835	8	.	.	.	.	1.4231	0.02317	0.1443:0.4471:0.1585:0.2501	.	1170;1178	O95382-3;O95382	.;M3K6_HUMAN	K	1170;1178;16;1178	ENSP00000363152:E1170K;ENSP00000419591:E1178K;ENSP00000350195:E1178K	.	E	-	1	0	MAP3K6	27555571	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-0.497000	0.06428	0.012000	0.14892	-0.211000	0.12701	GAA		0.627	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		25	28	0	0	0	1	0	25	28				
NEFM	4741	broad.mit.edu	37	8	24771352	24771352	+	Missense_Mutation	SNP	C	C	T	rs376788931		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:24771352C>T	ENST00000221166.5	+	1	828	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000518131.1_Missense_Mutation_p.R16W|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.R16W			P07197	NFM_HUMAN	neurofilament, medium polypeptide	16	Head.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGCCTACCGGCGGGTAACCGA	0.701																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(46-48)Cgg>Tgg		neurofilament, medium polypeptide							12.0	15.0	14.0					8																	24771352		2125	4200	6325	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771352C>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.46C>T	8.37:g.24771352C>T	ENSP00000221166:p.Arg16Trp					NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.R16W|NEFM_ENST00000437366.2_Missense_Mutation_p.R16W	p.R16W			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	828	+		Prostate(55;0.157)	16			Head.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.46C>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433623	0.43224	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.91686	-2.89;-2.89;-2.89	3.97	3.09	0.35607	Intermediate filament head, DNA-binding domain (1);	0.369401	0.19859	N	0.104468	D	0.94159	0.8126	M	0.67397	2.05	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	D	0.92906	0.6343	10	0.87932	D	0	.	6.9591	0.24587	0.2897:0.6256:0.0:0.0847	.	16;16	E7EMV2;P07197	.;NFM_HUMAN	W	16	ENSP00000221166:R16W;ENSP00000427872:R16W;ENSP00000410137:R16W	ENSP00000221166:R16W	R	+	1	2	NEFM	24827257	1.000000	0.71417	0.996000	0.52242	0.346000	0.29079	2.372000	0.44257	1.001000	0.39076	0.467000	0.42956	CGG		0.701	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		13	14	0	0	0	1	0	13	14				
SYT17	51760	broad.mit.edu	37	16	19195264	19195264	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:19195264G>A	ENST00000355377.2	+	5	1144	c.746G>A	c.(745-747)cGc>cAc	p.R249H	SYT17_ENST00000562034.1_Missense_Mutation_p.R188H|SYT17_ENST00000568115.1_Missense_Mutation_p.R188H|SYT17_ENST00000562711.2_Missense_Mutation_p.R245H	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GGGGTCAAACGCAAGACCCAG	0.592																																						ENST00000562034.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(562-564)cGc>cAc		synaptotagmin XVII							124.0	114.0	117.0					16																	19195264		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195264G>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.746G>A	16.37:g.19195264G>A	ENSP00000347538:p.Arg249His					SYT17_ENST00000355377.2_Missense_Mutation_p.R249H|SYT17_ENST00000562711.2_Missense_Mutation_p.R245H|SYT17_ENST00000568115.1_Missense_Mutation_p.R188H	p.R188H			Q9BSW7	SYT17_HUMAN			3	4361	+			249			C2 1.		O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.563G>A	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	36	5.970206	0.97156	.	.	ENSG00000103528	ENST00000355377	T	0.70282	-0.47	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	T	0.75034	0.3795	L	0.57130	1.785	0.80722	D	1	B;B	0.29590	0.213;0.25	B;B	0.38712	0.135;0.28	T	0.74743	-0.3562	10	0.87932	D	0	.	19.7405	0.96228	0.0:0.0:1.0:0.0	.	249;188	Q9BSW7;B4DJB2	SYT17_HUMAN;.	H	249	ENSP00000347538:R249H	ENSP00000347538:R249H	R	+	2	0	SYT17	19102765	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.811000	0.99226	2.661000	0.90470	0.558000	0.71614	CGC		0.592	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		52	159	0	0	0	1	0	52	159				
BORA	79866	broad.mit.edu	37	13	73319293	73319293	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr13:73319293C>G	ENST00000390667.5	+	8	783	c.686C>G	c.(685-687)tCa>tGa	p.S229*	BORA_ENST00000377815.3_Nonsense_Mutation_p.S159*	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	229	Ser-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										ATGTTTTATTCAATAGATTTG	0.443																																						ENST00000390667.5																			0											c.(685-687)tCa>tGa		bora, aurora kinase A activator							96.0	90.0	92.0					13																	73319293		1845	4068	5913	SO:0001587	stop_gained	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73319293C>G	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.686C>G	13.37:g.73319293C>G	ENSP00000375082:p.Ser229*					BORA_ENST00000377815.3_Nonsense_Mutation_p.S159*	p.S229*	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			8	783	+			229			Ser-rich.		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Nonsense_Mutation	SNP	ENST00000390667.5	37	c.686C>G	CCDS9446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.771294|4.771294	0.90108|0.90108	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000377814|ENST00000377815;ENST00000390667	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.059137	.|0.64402	.|D	.|0.000001	D|.	0.82342|.	0.5016|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81593|.	-0.0862|.	3|.	.|0.56958	.|D	.|0.05	-9.064|-9.064	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	206|159;229	.|.	.|ENSP00000367046:S159X	F|S	+|+	3|2	2|0	BORA|BORA	72217294|72217294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.809000|0.809000	0.45718|0.45718	5.288000|5.288000	0.65651|0.65651	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.443	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		4	227	0	0	0	1	0	4	227				
VPS41	27072	broad.mit.edu	37	7	38902218	38902218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:38902218delA	ENST00000310301.4	-	4	227	c.173delT	c.(172-174)ttgfs	p.L58fs	VPS41_ENST00000395969.2_Frame_Shift_Del_p.L58fs	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	58					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GCCCAATGCCAAAAACTGTAA	0.308																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(172-174)tgfs		vacuolar protein sorting 41 homolog (S. cerevisiae)							74.0	75.0	75.0					7																	38902218		2203	4300	6503	SO:0001589	frameshift_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38902218delA	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.173delT	7.37:g.38902218delA	ENSP00000309457:p.Leu58fs					VPS41_ENST00000395969.2_Frame_Shift_Del_p.L58fs	p.L58fs	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			4	227	-			58					E9PF36|Q86TP8|Q99851|Q99852	Frame_Shift_Del	DEL	ENST00000310301.4	37	c.173delT	CCDS5457.1																																																																																				0.308	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			8	325						8	325	---	---	---	---
ERICH1-AS1	619343	broad.mit.edu	37	8	844731	844732	+	RNA	INS	-	-	G	rs370162676		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:844731_844732insG	ENST00000524139.1	+	0	151				ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA			P0C838	ERAS1_HUMAN	ERICH1 antisense RNA 1																		GGTGGCTGGCAGGGCAGGGTGG	0.713																																						ENST00000524139.1																			0																																																			0							g.chr8:844731_844732insG	BC022082, BC038783		8p23.3	2012-10-12	2012-08-15	2012-04-16	ENSG00000237647	ENSG00000237647		"""Long non-coding RNAs"""	32290	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 68"", ""ERICH1 antisense RNA 1 (non-protein coding)"""	C8orf68			Standard	NR_073397		Approved		uc003wpj.2	P0C838	OTTHUMG00000163635		8.37:g.844734_844734dupG						ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA								0	151	+									RNA	INS	ENST00000524139.1	37																																																																																						0.713	ERICH1-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000374625.1			4	2						4	2	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73482037	73482039	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:73482037_73482039delTGC	ENST00000314256.7	+	4	624_626	c.230_232delTGC	c.(229-234)gtgctg>gtg	p.L81del	KIAA0195_ENST00000375248.5_In_Frame_Del_p.L91del|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	81						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTACTGGCCGTGCTGCTGCTGCT	0.675																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(229-234)gtg>g		KIAA0195																																				SO:0001651	inframe_deletion	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73482037_73482039delTGC		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.230_232delTGC	17.37:g.73482046_73482048delTGC	ENSP00000313885:p.Leu81del					KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_In_Frame_Del_p.VL87del	p.VL77del	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	624_626	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		77					O75536|Q86XF1	In_Frame_Del	DEL	ENST00000314256.7	37	c.230_232delTGC	CCDS32732.1																																																																																				0.675	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		7	282						7	282	---	---	---	---
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs371719084|rs112393371|rs200046748	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:73569700_73569701insG	ENST00000392550.3	+	21	2981_2982	c.2864_2865insG	c.(2863-2868)ccgagcfs	p.S956fs	LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.S956fs|LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.S956fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	956					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2863-2865)cagfs		lethal giant larvae homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569700_73569701insG	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2865dupG	17.37:g.73569701_73569701dupG	ENSP00000376333:p.Ser956fs					LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.Q955fs|LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.Q955fs	p.Q955fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		21	2981_2982	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		955					Q14521|Q9BR62	Frame_Shift_Ins	INS	ENST00000392550.3	37	c.2864_2865insG	CCDS32733.1																																																																																				0.668	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		9	521						9	521	---	---	---	---
SAP30BP	29115	broad.mit.edu	37	17	73702109	73702109	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:73702109delA	ENST00000584667.1	+	10	939	c.682delA	c.(682-684)aaafs	p.K229fs	SAP30BP_ENST00000355423.3_Frame_Shift_Del_p.K213fs	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACGGGCACCAAAAAAGGcac	0.572																																						ENST00000584667.1																			0				kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(682-684)aafs		SAP30 binding protein							118.0	85.0	96.0					17																	73702109		2203	4300	6503	SO:0001589	frameshift_variant	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73702109delA	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.682delA	17.37:g.73702109delA	ENSP00000462116:p.Lys229fs					SAP30BP_ENST00000355423.3_Frame_Shift_Del_p.K213fs	p.K229fs	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		10	939	+	all_cancers(13;6.42e-08)		229			Thr-rich.			Frame_Shift_Del	DEL	ENST00000584667.1	37	c.682delA	CCDS11726.1																																																																																				0.572	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		7	545						7	545	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3168873	3168873	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:3168873delA	ENST00000356443.4	-	9	1614	c.1281delT	c.(1279-1281)cgtfs	p.R427fs	MYOM1_ENST00000261606.7_Frame_Shift_Del_p.R427fs|MYOM1_ENST00000400569.3_Frame_Shift_Del_p.R427fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	427	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGATGACAACACGACAGCCTA	0.428																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1279-1281)cgfs		myomesin 1							133.0	122.0	126.0					18																	3168873		1905	4124	6029	SO:0001589	frameshift_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3168873delA	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1281delT	18.37:g.3168873delA	ENSP00000348821:p.Arg427fs					MYOM1_ENST00000261606.7_Frame_Shift_Del_p.R427fs|MYOM1_ENST00000356443.4_Frame_Shift_Del_p.R427fs	p.R427fs			P52179	MYOM1_HUMAN			9	1614	-			427			Ig-like C2-type 2.		Q14BD6|Q6H969|Q6ZUU0	Frame_Shift_Del	DEL	ENST00000356443.4	37	c.1281delT	CCDS45824.1																																																																																				0.428	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		34	53						34	53	---	---	---	---
BTBD3	22903	broad.mit.edu	37	20	11899098	11899100	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr20:11899098_11899100delAAG	ENST00000405977.1	+	2	800_802	c.175_177delAAG	c.(175-177)aagdel	p.K61del	BTBD3_ENST00000254977.3_5'UTR|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_In_Frame_Del_p.K61del|BTBD3_ENST00000399006.2_5'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	61					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GAAGACTAAAAAGAAGAAGATGG	0.453																																						ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(175-177)del		BTB (POZ) domain containing 3			,	8,4256		4,0,2128					,	4.0	1.0			146	20,8234		10,0,4117	no	utr-5,coding	BTBD3	NM_181443.1,NM_014962.2	,	14,0,6245	A1A1,A1R,RR		0.2423,0.1876,0.2237	,	,		28,12490				SO:0001651	inframe_deletion	22903							g.chr20:11899098_11899100delAAG	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.175_177delAAG	20.37:g.11899104_11899106delAAG	ENSP00000384545:p.Lys61del					BTBD3_ENST00000399006.2_5'UTR|BTBD3_ENST00000254977.3_5'UTR|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_In_Frame_Del_p.K61del	p.K61del			Q9Y2F9	BTBD3_HUMAN			2	800_802	+			61					D3DW19|Q5JY73	In_Frame_Del	DEL	ENST00000405977.1	37	c.175_177delAAG	CCDS13113.1																																																																																				0.453	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			129	300						129	300	---	---	---	---
