#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
TMEM217	221468	broad.mit.edu	37	6	37186257	37186257	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:37186257T>C	ENST00000336655.2	-	2	589	c.550A>G	c.(550-552)Att>Gtt	p.I184V	TMEM217_ENST00000356757.2_Missense_Mutation_p.I184V|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	184						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ccACTCGAAATTGATAATCTT	0.478																																						ENST00000336655.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(550-552)Att>Gtt		transmembrane protein 217							59.0	63.0	62.0					6																	37186257		2203	4300	6503	SO:0001583	missense	221468					integral to membrane		g.chr6:37186257T>C		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.550A>G	6.37:g.37186257T>C	ENSP00000338164:p.Ile184Val					TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.I184V	p.I184V	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN			2	589	-			184					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.550A>G	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	t	0.008	-1.887541	0.00527	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	3.56	-4.09	0.03951	.	.	.	.	.	T	0.02848	0.0085	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44544	-0.9321	8	0.07482	T	0.82	-1.0846	9.683	0.40080	0.0:0.2152:0.0:0.7848	.	184;184	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	V	184	.	ENSP00000338164:I184V	I	-	1	0	TMEM217	37294235	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.525000	0.06214	-0.938000	0.03714	-1.564000	0.00881	ATT		0.478	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		4	113	0	0	0	0.000248	0	4	113				
SYNGR1	9145	broad.mit.edu	37	22	39770548	39770548	+	Silent	SNP	C	C	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr22:39770548C>T	ENST00000328933.5	+	2	342	c.327C>T	c.(325-327)atC>atT	p.I109I	SYNGR1_ENST00000216155.7_Silent_p.I109I|SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	109	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TGTCCGACATCGGTGTCTCGG	0.632																																						ENST00000328933.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(325-327)atC>atT		synaptogyrin 1							84.0	59.0	67.0					22																	39770548		2203	4300	6503	SO:0001819	synonymous_variant	9145							g.chr22:39770548C>T	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.327C>T	22.37:g.39770548C>T						SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000216155.7_Silent_p.I109I|SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I	p.I109I	NM_004711.4	NP_004702.2					2	342	+	Melanoma(58;0.04)							A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Silent	SNP	ENST00000328933.5	37	c.327C>T	CCDS13989.1																																																																																				0.632	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		23	39	0	0	0	0.003954	0	23	39				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	96	0	0	0	0.000248	0	3	96				
RUVBL2	10856	broad.mit.edu	37	19	49507640	49507640	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:49507640G>A	ENST00000595090.1	+	4	694	c.230G>A	c.(229-231)gGc>gAc	p.G77D	RUVBL2_ENST00000601968.1_Missense_Mutation_p.G32D|RUVBL2_ENST00000413176.2_Missense_Mutation_p.G32D	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	77					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTTATTGCTGGCCAGCCGGGC	0.617																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(94-96)gGc>gAc		RuvB-like AAA ATPase 2							49.0	56.0	54.0					19																	49507640		1954	4140	6094	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49507640G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.230G>A	19.37:g.49507640G>A	ENSP00000473172:p.Gly77Asp					RUVBL2_ENST00000595090.1_Missense_Mutation_p.G77D|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G32D	p.G32D			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	1243	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	77					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.95G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929630	0.92389	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.75821	-0.97;-0.79	4.92	4.92	0.64577	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.92064	0.7485	H	0.99312	4.51	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.81914	0.995;0.981;0.99	D	0.95231	0.8342	10	0.87932	D	0	-27.0625	15.9957	0.80237	0.0:0.0:1.0:0.0	.	77;77;43	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	D	77;32	ENSP00000221413:G77D;ENSP00000413890:G32D	ENSP00000221413:G77D	G	+	2	0	RUVBL2	54199452	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	8.639000	0.91023	2.469000	0.83416	0.561000	0.74099	GGC		0.617	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			4	138	0	0	0	0.000602	0	4	138				
TNN	63923	broad.mit.edu	37	1	175054615	175054615	+	Silent	SNP	C	C	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:175054615C>T	ENST00000239462.4	+	6	1422	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	437	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCGATCCTCCTGAATGGCAG	0.517																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(1309-1311)Ctg>Ttg		tenascin N							65.0	56.0	59.0					1																	175054615		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175054615C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1309C>T	1.37:g.175054615C>T							p.L437L	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	6	1422	+		Breast(1374;0.000962)	437			Fibronectin type-III 2.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.1309C>T	CCDS30943.1																																																																																				0.517	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		6	12	0	0	0	0.001984	0	6	12				
CLASP2	23122	broad.mit.edu	37	3	33552113	33552113	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr3:33552113T>C	ENST00000468888.2	-	37	4324	c.4278A>G	c.(4276-4278)atA>atG	p.I1426M	CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M|CLASP2_ENST00000399362.4_Missense_Mutation_p.I1425M|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1206					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACACTCTCTCTATCACTTTTG	0.413																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(4273-4275)atA>atG		cytoplasmic linker associated protein 2							202.0	177.0	185.0					3																	33552113		1888	4125	6013	SO:0001583	missense	23122							g.chr3:33552113T>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4278A>G	3.37:g.33552113T>C	ENSP00000419974:p.Ile1426Met					CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1426M|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M	p.I1425M	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			37	4628	-			1427					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.4275A>G		.	.	.	.	.	.	.	.	.	.	T	16.43	3.120485	0.56613	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.88	-3.7	0.04437	.	0.167258	0.56097	D	0.000036	T	0.58409	0.2120	L	0.41961	1.31	0.46149	D	0.998895	B;B	0.32893	0.053;0.389	B;B	0.38921	0.032;0.285	T	0.57877	-0.7735	10	0.66056	D	0.02	-22.9986	14.5524	0.68075	0.0839:0.0:0.6022:0.3139	.	1417;1425	F5H604;E7ERI8	.;.	M	1426;1425;1417;907;1205;1185	ENSP00000419974:I1426M;ENSP00000382297:I1425M;ENSP00000352581:I1417M;ENSP00000304743:I907M;ENSP00000417518:I1205M;ENSP00000419305:I1185M	ENSP00000304743:I907M	I	-	3	3	CLASP2	33527117	0.899000	0.30636	0.990000	0.47175	0.992000	0.81027	-0.078000	0.11375	-0.451000	0.07097	0.533000	0.62120	ATA		0.413	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		9	61	0	0	0	0.008291	0	9	61				
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C	rs540968052		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383																																						ENST00000558896.1																			0																																																			0							g.chr15:22332492A>C																													15.37:g.22332492A>C														0	299	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.383	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			4	156	0	0	0	0.001984	0	4	156				
CTPS2	56474	broad.mit.edu	37	X	16720991	16720991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:16720991G>T	ENST00000443824.1	-	2	778	c.35C>A	c.(34-36)tCa>tAa	p.S12*	CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*|CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	12					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACCAATGCCTGAGATGACCCC	0.438																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(34-36)tCa>tAa		CTP synthase 2							146.0	123.0	131.0					X																	16720991		2203	4300	6503	SO:0001587	stop_gained	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16720991G>T	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.35C>A	X.37:g.16720991G>T	ENSP00000401264:p.Ser12*					CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*|CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*	p.S12*	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			2	778	-	Hepatocellular(33;0.0997)		12					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Nonsense_Mutation	SNP	ENST00000443824.1	37	c.35C>A	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	G	37	6.259937	0.97421	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	.	.	.	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3459	18.6316	0.91361	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	ENSP00000352222:S12X	S	-	2	0	CTPS2	16630912	1.000000	0.71417	0.681000	0.30009	0.020000	0.10135	9.395000	0.97266	2.342000	0.79632	0.525000	0.51046	TCA		0.438	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		5	72	1	0	4.096e-09	0.001168	8.35918e-09	5	72				
DACH2	117154	broad.mit.edu	37	X	86068206	86068206	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:86068206G>A	ENST00000373125.4	+	9	1463	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	DACH2_ENST00000373131.1_Missense_Mutation_p.R475Q|DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q|DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	488	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AAGGAGCTGCGACTGGAGCTC	0.413																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1423-1425)cGa>cAa		dachshund homolog 2 (Drosophila)							40.0	38.0	39.0					X																	86068206		2202	4300	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86068206G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1463G>A	X.37:g.86068206G>A	ENSP00000362217:p.Arg488Gln					DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q|DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.R488Q	p.R475Q	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			8	1587	+			488			DACHbox-C.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1424G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366282	0.24684	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82526	-1.61;-1.62	5.19	2.46	0.29980	.	0.202992	0.31834	N	0.006992	T	0.67720	0.2923	L	0.29908	0.895	0.29444	N	0.858948	B;B;B;B	0.28880	0.029;0.226;0.117;0.054	B;B;B;B	0.17098	0.012;0.017;0.004;0.003	T	0.58515	-0.7623	10	0.34782	T	0.22	.	6.0792	0.19933	0.5556:0.0:0.4444:0.0	.	354;488;475;488	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	Q	488;475;488;321;269;321;153	ENSP00000362223:R475Q;ENSP00000362217:R488Q	ENSP00000345134:R488Q	R	+	2	0	DACH2	85954862	1.000000	0.71417	0.691000	0.30163	0.010000	0.07245	2.809000	0.47971	0.419000	0.25927	0.513000	0.50165	CGA		0.413	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		9	4	0	0	0	0.008291	0	9	4				
ZNF599	148103	broad.mit.edu	37	19	35260439	35260439	+	Missense_Mutation	SNP	C	C	G	rs565979259		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:35260439C>G	ENST00000329285.8	-	2	413	c.40G>C	c.(40-42)Gtg>Ctg	p.V14L	ZNF599_ENST00000587354.2_Missense_Mutation_p.V14L|ZNF599_ENST00000588760.1_Missense_Mutation_p.V14L	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTCACAACCACGTCTTCAAAT	0.532																																						ENST00000587354.1																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(40-42)Gtg>Ctg		zinc finger protein 599							93.0	89.0	90.0					19																	35260439		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35260439C>G	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.40G>C	19.37:g.35260439C>G	ENSP00000333802:p.Val14Leu					ZNF599_ENST00000588760.1_Missense_Mutation_p.V14L|ZNF599_ENST00000329285.7_Missense_Mutation_p.V14L	p.V14L			Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		2	427	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		14			KRAB.		Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.40G>C	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	c	15.29	2.788416	0.49997	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000379196	T	0.09255	3.0	2.92	1.81	0.25067	Krueppel-associated box (4);	.	.	.	.	T	0.33294	0.0858	M	0.89287	3.02	0.09310	N	0.999997	D	0.67145	0.996	D	0.65773	0.938	T	0.05699	-1.0869	9	0.56958	D	0.05	.	8.9353	0.35695	0.2238:0.7762:0.0:0.0	.	14	Q96NL3	ZN599_HUMAN	L	13;14;8	ENSP00000333802:V14L	ENSP00000333802:V14L	V	-	1	0	ZNF599	39952279	0.452000	0.25713	0.188000	0.23233	0.929000	0.56500	1.433000	0.34947	0.743000	0.32719	0.457000	0.33378	GTG		0.532	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		3	115	0	0	0	0.000248	0	3	115				
NLRP14	338323	broad.mit.edu	37	11	7064143	7064143	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr11:7064143G>T	ENST00000299481.4	+	4	1232	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	296	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCTGAGGAAAGTGATGCTCCC	0.448																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(886-888)Gtg>Ttg		NLR family, pyrin domain containing 14							78.0	74.0	75.0					11																	7064143		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064143G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.886G>T	11.37:g.7064143G>T	ENSP00000299481:p.Val296Leu						p.V296L	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1232	+			296			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.886G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184162	0.57800	.	.	ENSG00000158077	ENST00000299481	T	0.78364	-1.17	4.57	2.68	0.31781	NACHT nucleoside triphosphatase (1);	0.549745	0.15256	N	0.272073	T	0.68476	0.3005	L	0.40543	1.245	0.29362	N	0.864603	B	0.29481	0.245	B	0.35182	0.197	T	0.63563	-0.6609	10	0.41790	T	0.15	.	6.3708	0.21481	0.2181:0.0:0.7819:0.0	.	296	Q86W24	NAL14_HUMAN	L	296	ENSP00000299481:V296L	ENSP00000299481:V296L	V	+	1	0	NLRP14	7020719	0.664000	0.27457	0.999000	0.59377	0.978000	0.69477	3.058000	0.49939	1.286000	0.44565	0.655000	0.94253	GTG		0.448	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		13	53	1	0	4.3838e-07	0.001855	8.7676e-07	13	53				
SLC38A4	55089	broad.mit.edu	37	12	47163194	47163194	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr12:47163194G>C	ENST00000447411.1	-	14	1523	c.1317C>G	c.(1315-1317)atC>atG	p.I439M	SLC38A4_ENST00000266579.4_Missense_Mutation_p.I439M	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	439					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATAACAGTGTGATCACTGATG	0.363																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1315-1317)atC>atG		solute carrier family 38, member 4							136.0	127.0	130.0					12																	47163194		2203	4300	6503	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47163194G>C	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1317C>G	12.37:g.47163194G>C	ENSP00000389843:p.Ile439Met					SLC38A4_ENST00000266579.4_Missense_Mutation_p.I439M	p.I439M	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			14	1523	-	Lung SC(27;0.192)|Renal(347;0.236)		439					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.1317C>G	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	G	7.483	0.649129	0.14516	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02216	4.39;4.39	5.66	2.67	0.31697	.	0.575223	0.19314	N	0.117305	T	0.04092	0.0114	L	0.38175	1.15	0.26662	N	0.971895	B	0.29955	0.263	P	0.49361	0.608	T	0.41413	-0.9510	10	0.34782	T	0.22	-0.1807	2.5893	0.04838	0.1491:0.1256:0.467:0.2583	.	439	Q969I6	S38A4_HUMAN	M	439	ENSP00000389843:I439M;ENSP00000266579:I439M	ENSP00000266579:I439M	I	-	3	3	SLC38A4	45449461	0.045000	0.20229	0.502000	0.27614	0.862000	0.49288	0.212000	0.17497	0.730000	0.32425	-0.448000	0.05591	ATC		0.363	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			12	60	0	0	0	0.001368	0	12	60				
SLC39A2	29986	broad.mit.edu	37	14	21469223	21469223	+	Missense_Mutation	SNP	G	G	A	rs144375696	byFrequency	TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:21469223G>A	ENST00000298681.4	+	4	572	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	139					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		AGTGCAGGACGAAGAATGGGG	0.547																																						ENST00000298681.4																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(415-417)Gaa>Aaa		solute carrier family 39 (zinc transporter), member 2		G	LYS/GLU	0,4406		0,0,2203	152.0	142.0	145.0		415	3.9	1.0	14	dbSNP_134	145	7,8593	6.4+/-24.3	0,7,4293	yes	missense	SLC39A2	NM_014579.3	56	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	benign	139/310	21469223	7,12999	2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21469223G>A	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.415G>A	14.37:g.21469223G>A	ENSP00000298681:p.Glu139Lys					SLC39A2_ENST00000554422.1_3'UTR	p.E139K	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	4	572	+	all_cancers(95;0.00267)		139					B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.415G>A	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877502	0.17395	0.0	8.14E-4	ENSG00000165794	ENST00000298681	T	0.49139	0.79	5.7	3.88	0.44766	.	0.412335	0.27181	N	0.020557	T	0.34978	0.0916	L	0.46157	1.445	0.41081	D	0.985528	P	0.45474	0.859	B	0.38880	0.284	T	0.10428	-1.0630	10	0.13853	T	0.58	-8.1019	9.5061	0.39048	0.0794:0.151:0.7696:0.0	.	139	Q9NP94	S39A2_HUMAN	K	139	ENSP00000298681:E139K	ENSP00000298681:E139K	E	+	1	0	SLC39A2	20539063	1.000000	0.71417	0.998000	0.56505	0.027000	0.11550	5.157000	0.64911	0.759000	0.33084	-0.140000	0.14226	GAA		0.547	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		32	164	0	0	0	0.001786	0	32	164				
ENPP2	5168	broad.mit.edu	37	8	120575111	120575111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr8:120575111C>A	ENST00000075322.6	-	24	2465	c.2407G>T	c.(2407-2409)Gag>Tag	p.E803*	ENPP2_ENST00000522826.1_Nonsense_Mutation_p.E828*|ENPP2_ENST00000522167.1_Nonsense_Mutation_p.E438*|ENPP2_ENST00000427067.2_Nonsense_Mutation_p.E824*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.E855*	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	803					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAGCTCTCCTCGTTGTCAGGC	0.483																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2470-2472)Gag>Tag		ectonucleotide pyrophosphatase/phosphodiesterase 2							104.0	93.0	97.0					8																	120575111		2203	4300	6503	SO:0001587	stop_gained	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120575111C>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2407G>T	8.37:g.120575111C>A	ENSP00000075322:p.Glu803*					ENPP2_ENST00000522167.1_Nonsense_Mutation_p.E438*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.E855*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.E828*|ENPP2_ENST00000075322.6_Nonsense_Mutation_p.E803*	p.E824*			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2650	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		803					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Nonsense_Mutation	SNP	ENST00000075322.6	37	c.2470G>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	38	6.708667	0.97780	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	.	.	.	5.8	5.8	0.92144	.	0.481873	0.25094	N	0.033188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	.	.	.	X	855;824;438;828;803	.	ENSP00000075322:E803X	E	-	1	0	ENPP2	120644292	1.000000	0.71417	0.319000	0.25293	0.901000	0.52897	4.884000	0.63135	2.732000	0.93576	0.650000	0.86243	GAG		0.483	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			5	79	1	0	3.59834e-05	0.001168	6.91988e-05	5	79				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		5	64	0	0	0	0.001168	0	5	64				
DCHS2	54798	broad.mit.edu	37	4	155157178	155157178	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:155157178A>G	ENST00000357232.4	-	25	7260	c.7261T>C	c.(7261-7263)Ttt>Ctt	p.F2421L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2421	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGGCTCAAATTCATCTATC	0.433																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7261-7263)Ttt>Ctt		dachsous cadherin-related 2							84.0	84.0	84.0					4																	155157178		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157178A>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7261T>C	4.37:g.155157178A>G	ENSP00000349768:p.Phe2421Leu						p.F2421L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7260	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2421			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7261T>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.914243	0.92178	.	.	ENSG00000197410	ENST00000357232	T	0.60424	0.19	6.04	6.04	0.98038	Cadherin (3);Cadherin-like (1);	0.073912	0.56097	D	0.000031	T	0.73753	0.3627	M	0.86953	2.85	0.80722	D	1	D	0.59767	0.986	P	0.53649	0.731	T	0.76782	-0.2832	10	0.41790	T	0.15	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	2421	Q6V1P9	PCD23_HUMAN	L	2421	ENSP00000349768:F2421L	ENSP00000349768:F2421L	F	-	1	0	DCHS2	155376628	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	TTT		0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		3	53	0	0	0	0.000602	0	3	53				
PAX4	5078	broad.mit.edu	37	7	127255106	127255106	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr7:127255106C>T	ENST00000341640.2	-	2	369	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PAX4_ENST00000463946.1_Missense_Mutation_p.R53H|PAX4_ENST00000378740.2_Missense_Mutation_p.R55H|PAX4_ENST00000338516.3_Missense_Mutation_p.R63H	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	63	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GACACCTGTGCGGTAGTAACG	0.572																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(163-165)cGc>cAc		paired box 4							94.0	88.0	90.0					7																	127255106		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255106C>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.164G>A	7.37:g.127255106C>T	ENSP00000339906:p.Arg55His					PAX4_ENST00000338516.3_Missense_Mutation_p.R63H|PAX4_ENST00000378740.2_Missense_Mutation_p.R55H|PAX4_ENST00000463946.1_Missense_Mutation_p.R53H	p.R55H	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			2	369	-			63			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.164G>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482891	0.84747	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99338	-5.76;-5.76;-5.76	5.73	5.73	0.89815	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.052608	0.85682	D	0.000000	D	0.98998	0.9658	L	0.55481	1.735	0.44677	D	0.997666	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.73380	0.949;0.973;0.98;0.974	D	0.98452	1.0592	10	0.87932	D	0	.	10.7773	0.46356	0.0:0.9144:0.0:0.0856	.	55;53;63;53	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	H	55;63;63;53	ENSP00000339906:R55H;ENSP00000344297:R63H;ENSP00000451923:R53H	ENSP00000344297:R63H	R	-	2	0	PAX4	127042342	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.413000	0.44618	2.693000	0.91896	0.655000	0.94253	CGC		0.572	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			27	114	0	0	0	0.005443	0	27	114				
CD3G	917	broad.mit.edu	37	11	118223127	118223127	+	Silent	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr11:118223127G>A	ENST00000532917.1	+	6	560	c.492G>A	c.(490-492)aaG>aaA	p.K164K	CD3G_ENST00000392883.2_Silent_p.K60K|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	164	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AGCCCCTCAAGGATCGAGAAG	0.393																																						ENST00000532917.1																			0				breast(2)|kidney(1)|large_intestine(2)|skin(1)	6						c.(490-492)aaG>aaA		CD3g molecule, gamma (CD3-TCR complex)							157.0	164.0	162.0					11																	118223127		2200	4296	6496	SO:0001819	synonymous_variant	917				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	g.chr11:118223127G>A	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.492G>A	11.37:g.118223127G>A						CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Silent_p.K60K	p.K164K	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	6	560	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	164			ITAM.		Q2HIZ6	Silent	SNP	ENST00000532917.1	37	c.492G>A	CCDS8395.1																																																																																				0.393	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		74	118	0	0	0	0.003610	0	74	118				
FSTL5	56884	broad.mit.edu	37	4	162680679	162680679	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:162680679A>G	ENST00000306100.5	-	6	1047	c.611T>C	c.(610-612)aTa>aCa	p.I204T	FSTL5_ENST00000536695.1_Missense_Mutation_p.I203T|FSTL5_ENST00000427802.2_Missense_Mutation_p.I203T|FSTL5_ENST00000379164.4_Missense_Mutation_p.I203T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	204	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCCTGTTTTATCACCTAACA	0.274																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(610-612)aTa>aCa		follistatin-like 5							75.0	81.0	79.0					4																	162680679		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162680679A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.611T>C	4.37:g.162680679A>G	ENSP00000305334:p.Ile204Thr					FSTL5_ENST00000379164.4_Missense_Mutation_p.I203T|FSTL5_ENST00000536695.1_Missense_Mutation_p.I203T|FSTL5_ENST00000427802.2_Missense_Mutation_p.I203T	p.I204T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1047	-	all_hematologic(180;0.24)		204			EF-hand 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.611T>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277475	0.40294	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.37	5.37	0.77165	EF-hand-like domain (1);	0.046510	0.85682	D	0.000000	T	0.33089	0.0851	L	0.50333	1.59	0.58432	D	0.999998	D;B;D	0.63880	0.979;0.274;0.993	P;B;P	0.57101	0.628;0.135;0.813	T	0.02713	-1.1120	10	0.22706	T	0.39	.	14.5345	0.67950	1.0:0.0:0.0:0.0	.	203;203;204	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	T	204;203;203;203	ENSP00000305334:I204T;ENSP00000368462:I203T;ENSP00000389270:I203T;ENSP00000440409:I203T	ENSP00000305334:I204T	I	-	2	0	FSTL5	162900129	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	6.778000	0.75043	2.030000	0.59900	0.472000	0.43445	ATA		0.274	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		11	53	0	0	0	0.000978	0	11	53				
CELA2B	51032	broad.mit.edu	37	1	15802967	15802967	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:15802967T>A	ENST00000375910.3	+	2	81	c.56T>A	c.(55-57)gTc>gAc	p.V19D	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	19						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						AGTTGTGGGGTCTCCACTTAC	0.527																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(55-57)gTc>gAc		chymotrypsin-like elastase family, member 2B							120.0	115.0	117.0					1																	15802967		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15802967T>A		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.56T>A	1.37:g.15802967T>A	ENSP00000365075:p.Val19Asp					CELA2B_ENST00000494280.1_3'UTR	p.V19D	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			2	81	+			19					Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.56T>A	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	T	1.790	-0.479829	0.04383	.	.	ENSG00000215704	ENST00000375910;ENST00000422901	D;D	0.93426	-3.22;-2.95	4.39	0.376	0.16193	Peptidase cysteine/serine, trypsin-like (1);	0.501238	0.15453	U	0.261580	D	0.85932	0.5812	L	0.43598	1.365	0.25250	N	0.989686	B	0.06786	0.001	B	0.10450	0.005	T	0.68534	-0.5383	10	0.13108	T	0.6	.	3.3034	0.06990	0.3747:0.1066:0.0:0.5187	.	19	P08218	CEL2B_HUMAN	D	19;3	ENSP00000365075:V19D;ENSP00000399811:V3D	ENSP00000365075:V19D	V	+	2	0	CELA2B	15675554	0.000000	0.05858	0.004000	0.12327	0.048000	0.14542	-0.078000	0.11375	-0.221000	0.09973	0.172000	0.16884	GTC		0.527	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		5	156	0	0	0	0.000602	0	5	156				
PEG3	5178	broad.mit.edu	37	19	57328000	57328000	+	Missense_Mutation	SNP	G	G	A	rs376042442		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:57328000G>A	ENST00000326441.9	-	10	2173	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R480C|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R604C|PEG3_ENST00000593695.1_Missense_Mutation_p.R478C|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	604					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R604C(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTTCCCCGCGCtcacgttca	0.458																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.R604C(2)	breast(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1810-1812)Cgc>Tgc		paternally expressed 3		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,,,CYS/ARG,	0,4406		0,0,2203	94.0	77.0	83.0		1810,1432,1810,1438,,,1810,	1.7	0.0	19		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,intron,intron,missense,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	180,180,180,180,,,180,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,probably-damaging,	604/1589,478/1463,604/1589,480/1465,,,604/1589,	57328000	1,13005	2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328000G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1810C>T	19.37:g.57328000G>A	ENSP00000326581:p.Arg604Cys					ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R480C|PEG3_ENST00000593695.1_Missense_Mutation_p.R478C|PEG3_ENST00000423103.2_Missense_Mutation_p.R604C	p.R604C	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2173	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	604					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1810C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	0.370	-0.934314	0.02340	0.0	1.16E-4	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.01414	4.92;4.92	4.0	1.69	0.24217	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	.	.	.	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.41034	-0.9531	8	0.02654	T	1	-7.3429	5.6883	0.17815	0.3823:0.0:0.6177:0.0	.	480;604;539	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	C	604	ENSP00000326581:R604C;ENSP00000403051:R604C	ENSP00000326581:R604C	R	-	1	0	ZIM2	62019812	0.007000	0.16637	0.001000	0.08648	0.009000	0.06853	1.984000	0.40658	0.534000	0.28695	-0.145000	0.13849	CGC		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			5	39	0	0	0	0.001168	0	5	39				
IQCH	64799	broad.mit.edu	37	15	67664646	67664646	+	Silent	SNP	C	C	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr15:67664646C>T	ENST00000335894.4	+	9	1017	c.951C>T	c.(949-951)gtC>gtT	p.V317V	IQCH_ENST00000360277.4_Silent_p.V69V|IQCH_ENST00000358767.3_Silent_p.V144V|IQCH_ENST00000546225.1_Silent_p.V65V	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	317										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TACCAGAAGTCAAAATAAAAG	0.418																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(949-951)gtC>gtT		IQ motif containing H							114.0	120.0	118.0					15																	67664646		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67664646C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.951C>T	15.37:g.67664646C>T						IQCH_ENST00000358767.3_Silent_p.V144V|IQCH_ENST00000546225.1_Silent_p.V65V|IQCH_ENST00000360277.4_Silent_p.V69V	p.V317V	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	9	1017	+			317					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.951C>T	CCDS32273.1																																																																																				0.418	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		4	120	0	0	0	0.000602	0	4	120				
SERPINB7	8710	broad.mit.edu	37	18	61471819	61471819	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr18:61471819A>T	ENST00000398019.2	+	8	1418	c.1093A>T	c.(1093-1095)Atc>Ttc	p.I365F	SERPINB7_ENST00000546027.1_Missense_Mutation_p.I365F|SERPINB7_ENST00000540675.1_Missense_Mutation_p.I348F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.I365F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	365					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCTATTTGTTATCAGGAAGGA	0.453																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(1093-1095)Atc>Ttc		serpin peptidase inhibitor, clade B (ovalbumin), member 7							79.0	73.0	75.0					18																	61471819		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61471819A>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.1093A>T	18.37:g.61471819A>T	ENSP00000381101:p.Ile365Phe					SERPINB7_ENST00000540675.1_Missense_Mutation_p.I348F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.I365F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.I365F	p.I365F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			8	1418	+		Esophageal squamous(42;0.129)	365					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.1093A>T	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.366358	0.61513	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	6.01	4.86	0.63082	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.64402	D	0.000002	T	0.59459	0.2195	H	0.97896	4.1	0.46185	D	0.998913	D;D	0.76494	0.999;0.999	D;D	0.70487	0.948;0.969	T	0.70714	-0.4796	10	0.87932	D	0	.	10.0111	0.41986	0.9243:0.0:0.0757:0.0	.	348;365	F5GZC0;O75635	.;SPB7_HUMAN	F	365;365;348;365	ENSP00000337212:I365F;ENSP00000381101:I365F;ENSP00000444572:I348F;ENSP00000444861:I365F	ENSP00000337212:I365F	I	+	1	0	SERPINB7	59622799	1.000000	0.71417	0.862000	0.33874	0.298000	0.27526	5.730000	0.68546	1.102000	0.41551	0.533000	0.62120	ATC		0.453	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		4	90	0	0	0	0.000248	0	4	90				
SP110	3431	broad.mit.edu	37	2	231033887	231033887	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr2:231033887G>A	ENST00000358662.4	-	18	2101	c.2023C>T	c.(2023-2025)Ctc>Ttc	p.L675F	AC009950.2_ENST00000445199.1_RNA|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000594622.1_RNA|SP110_ENST00000258381.6_Missense_Mutation_p.L699F|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000600787.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	675	Bromo.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGAAAACCGAGCACGTCTTTG	0.458																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2095-2097)Ctc>Ttc		SP110 nuclear body protein							183.0	189.0	187.0					2																	231033887		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231033887G>A	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.2023C>T	2.37:g.231033887G>A	ENSP00000351488:p.Leu675Phe					SP110_ENST00000358662.4_Missense_Mutation_p.L675F	p.L699F	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	19	2172	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	675					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.2095C>T	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.906750	0.00512	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	T;T	0.44482	0.92;0.92	3.02	-3.65	0.04502	Bromodomain (2);	.	.	.	.	T	0.08802	0.0218	N	0.00251	-1.775	0.09310	N	0.999998	B;B	0.09022	0.0;0.002	B;B	0.12156	0.001;0.007	T	0.36553	-0.9743	9	0.02654	T	1	.	9.2559	0.37584	0.7275:0.0:0.2725:0.0	.	675;699	Q9HB58;Q9HB58-6	SP110_HUMAN;.	F	699;675	ENSP00000258381:L699F;ENSP00000351488:L675F	ENSP00000258381:L699F	L	-	1	0	SP110	230742131	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.307000	0.02733	-0.924000	0.03780	-0.670000	0.03821	CTC		0.458	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		74	151	0	0	0	0.003610	0	74	151				
CLCN3	1182	broad.mit.edu	37	4	170625197	170625197	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:170625197G>C	ENST00000513761.1	+	10	2171	c.1612G>C	c.(1612-1614)Gga>Cga	p.G538R	CLCN3_ENST00000360642.3_Missense_Mutation_p.G511R|CLCN3_ENST00000504131.2_Missense_Mutation_p.G521R|CLCN3_ENST00000347613.4_Missense_Mutation_p.G538R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	538					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AGCGATCGCAGGAAGGATTGT	0.507																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1612-1614)Gga>Cga		chloride channel, voltage-sensitive 3							219.0	183.0	195.0					4																	170625197		2203	4300	6503	SO:0001583	missense	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170625197G>C	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1612G>C	4.37:g.170625197G>C	ENSP00000424603:p.Gly538Arg					CLCN3_ENST00000504131.2_Missense_Mutation_p.G521R|CLCN3_ENST00000347613.4_Missense_Mutation_p.G538R|CLCN3_ENST00000360642.3_Missense_Mutation_p.G511R	p.G538R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	10	2171	+		Prostate(90;0.00601)|Renal(120;0.0183)	538					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1612G>C	CCDS34101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.64|19.64	3.865395|3.865395	0.71949|0.71949	.|.	.|.	ENSG00000109572|ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875|ENST00000515420	D;D;D;D;D|.	0.99701|.	-6.45;-6.45;-6.45;-6.45;-6.45|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Chloride channel, core (2);|.	0.046822|.	0.85682|.	D|.	0.000000|.	D|D	0.91798|0.91798	0.7405|0.7405	H|H	0.99454|0.99454	4.575|4.575	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.998;0.999|.	D;D;D;D;D|.	0.83275|.	0.996;0.996;0.996;0.996;0.992|.	D|D	0.95287|0.95287	0.8391|0.8391	10|5	0.87932|.	D|.	0|.	-2.8959|-2.8959	19.2046|19.2046	0.93724|0.93724	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	511;521;511;538;538|.	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2|.	.;.;.;CLCN3_HUMAN;.|.	R|H	538;538;511;521;511|192	ENSP00000424603:G538R;ENSP00000261514:G538R;ENSP00000353857:G511R;ENSP00000424540:G521R;ENSP00000425323:G511R|.	ENSP00000261514:G538R|.	G|Q	+|+	1|3	0|2	CLCN3|CLCN3	170861772|170861772	1.000000|1.000000	0.71417|0.71417	0.135000|0.135000	0.22099|0.22099	0.322000|0.322000	0.28314|0.28314	9.810000|9.810000	0.99221|0.99221	2.616000|2.616000	0.88540|0.88540	0.549000|0.549000	0.68633|0.68633	GGA|CAG		0.507	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			13	70	0	0	0	0.001855	0	13	70				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	31	0	0	0	0.000248	0	3	31				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	51	0	0	0	0.003080	0	5	51				
LCE1D	353134	broad.mit.edu	37	1	152770502	152770502	+	Missense_Mutation	SNP	C	C	T	rs142021851		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:152770502C>T	ENST00000326233.6	+	2	275	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	78	Cys-rich.		R -> H (in dbSNP:rs41268490).		cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCACAGGCGCCACAGGTC	0.716																																						ENST00000326233.6																			0				large_intestine(1)	1						c.(232-234)Cgc>Tgc		late cornified envelope 1D		C	CYS/ARG	0,4026		0,0,2013	19.0	22.0	21.0		232	3.2	1.0	1	dbSNP_134	21	4,7500		0,4,3748	no	missense	LCE1D	NM_178352.2	180	0,4,5761	TT,TC,CC		0.0533,0.0,0.0347	probably-damaging	78/115	152770502	4,11526	2013	3752	5765	SO:0001583	missense	353134				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm		g.chr1:152770502C>T		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"""Late cornified envelopes"""	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.232C>T	1.37:g.152770502C>T	ENSP00000316737:p.Arg78Cys						p.R78C	NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	275	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		78		R -> H (in dbSNP:rs41268490).	Cys-rich.			Missense_Mutation	SNP	ENST00000326233.6	37	c.232C>T	CCDS1025.1	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215625	0.22373	0.0	5.33E-4	ENSG00000172155	ENST00000326233	T	0.03772	3.81	4.19	3.2	0.36748	.	1.035500	0.07789	N	0.954589	T	0.02193	0.0068	N	0.25647	0.755	0.29812	N	0.831537	D	0.60160	0.987	P	0.44561	0.453	T	0.45293	-0.9271	10	0.87932	D	0	.	9.7073	0.40222	0.2059:0.7941:0.0:0.0	.	78	Q5T752	LCE1D_HUMAN	C	78	ENSP00000316737:R78C	ENSP00000316737:R78C	R	+	1	0	LCE1D	151037126	0.984000	0.35163	0.997000	0.53966	0.772000	0.43724	0.000000	0.12993	2.021000	0.59480	0.555000	0.69702	CGC		0.716	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	NM_178352		6	67	0	0	0	0.001168	0	6	67				
ANK1	286	broad.mit.edu	37	8	41557063	41557063	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr8:41557063T>G	ENST00000347528.4	-	23	2548	c.2465A>C	c.(2464-2466)gAa>gCa	p.E822A	ANK1_ENST00000289734.7_Missense_Mutation_p.E822A|ANK1_ENST00000379758.2_Missense_Mutation_p.E822A|ANK1_ENST00000396942.1_Missense_Mutation_p.E822A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000265709.8_Missense_Mutation_p.E863A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	822	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GATGAGTTCTTCCCCTGAAAC	0.522																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2464-2466)gAa>gCa		ankyrin 1, erythrocytic							101.0	96.0	98.0					8																	41557063		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41557063T>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2465A>C	8.37:g.41557063T>G	ENSP00000339620:p.Glu822Ala					ANK1_ENST00000289734.7_Missense_Mutation_p.E822A|ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000379758.2_Missense_Mutation_p.E822A|ANK1_ENST00000347528.4_Missense_Mutation_p.E822A|ANK1_ENST00000265709.8_Missense_Mutation_p.E863A	p.E822A			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		23	2548	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	822			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2465A>C	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810435	0.32053	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.66995	-0.23;-0.24;-0.21;-0.19;-0.21;-0.2;-0.15	5.49	5.49	0.81192	.	0.164003	0.52532	D	0.000061	T	0.75206	0.3818	M	0.81802	2.56	0.58432	D	0.999994	P;B;B;B;P;B	0.36465	0.554;0.027;0.008;0.003;0.554;0.004	P;B;B;B;P;B	0.48488	0.579;0.051;0.016;0.016;0.579;0.004	T	0.72050	-0.4407	10	0.18710	T	0.47	.	12.9644	0.58475	0.0:0.0:0.0:1.0	.	863;822;822;822;822;138	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	A	822;822;822;822;822;822;863;822	ENSP00000339620:E822A;ENSP00000289734:E822A;ENSP00000369082:E822A;ENSP00000380149:E822A;ENSP00000380147:E822A;ENSP00000309131:E822A;ENSP00000265709:E863A	ENSP00000265709:E863A	E	-	2	0	ANK1	41676220	1.000000	0.71417	0.995000	0.50966	0.107000	0.19398	4.400000	0.59709	2.085000	0.62840	0.533000	0.62120	GAA		0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		50	155	0	0	0	0.003610	0	50	155				
PREP	5550	broad.mit.edu	37	6	105821366	105821366	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:105821366A>C	ENST00000369110.3	-	5	665	c.473T>G	c.(472-474)gTt>gGt	p.V158G		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	158					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGCACCATCAACTTTCATGAA	0.473																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(472-474)gTt>gGt		prolyl endopeptidase	Oxytocin(DB00107)						149.0	128.0	135.0					6																	105821366		2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105821366A>C		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.473T>G	6.37:g.105821366A>C	ENSP00000358106:p.Val158Gly						p.V158G	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			5	665	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	158					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.473T>G	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421455	0.83559	.	.	ENSG00000085377	ENST00000369110	T	0.48201	0.82	6.02	6.02	0.97574	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.000000	0.85682	D	0.000000	T	0.73313	0.3571	M	0.92784	3.345	0.80722	D	1	P	0.34977	0.478	P	0.60415	0.874	T	0.76482	-0.2943	10	0.87932	D	0	-25.8368	16.542	0.84395	1.0:0.0:0.0:0.0	.	158	P48147	PPCE_HUMAN	G	158	ENSP00000358106:V158G	ENSP00000358106:V158G	V	-	2	0	PREP	105928059	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	8.962000	0.93254	2.304000	0.77564	0.528000	0.53228	GTT		0.473	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			10	83	0	0	0	0.006214	0	10	83				
RGS6	9628	broad.mit.edu	37	14	72976881	72976881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:72976881C>T	ENST00000553530.1	+	14	1192	c.985C>T	c.(985-987)Cga>Tga	p.R329*	RGS6_ENST00000434263.2_Nonsense_Mutation_p.R260*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000402788.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.R329*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.R329*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.R292*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.R329*|RGS6_ENST00000404301.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.R190*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	329	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGCCAACAGCGAGTAAAAAG	0.458																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(985-987)Cga>Tga		regulator of G-protein signaling 6							113.0	129.0	123.0					14																	72976881		2203	4300	6503	SO:0001587	stop_gained	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72976881C>T	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.985C>T	14.37:g.72976881C>T	ENSP00000452331:p.Arg329*					RGS6_ENST00000434263.2_Nonsense_Mutation_p.R260*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.R190*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000402788.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000404301.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.R292*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.R329*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.R329*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.R329*	p.R329*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	14	1192	+			329			G protein gamma.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Nonsense_Mutation	SNP	ENST00000553530.1	37	c.985C>T	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	C	40	8.420615	0.98803	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	.	.	.	5.72	2.8	0.32819	.	0.099482	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9572	9.6142	0.39681	0.2801:0.6542:0.0:0.0657	.	.	.	.	X	329;329;329;329;329;329;329;329;329;292;301;260;190;190	.	ENSP00000341199:R292X	R	+	1	2	RGS6	72046634	1.000000	0.71417	0.941000	0.38009	0.905000	0.53344	1.519000	0.35888	0.376000	0.24707	0.655000	0.94253	CGA		0.458	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			6	191	0	0	0	0.001168	0	6	191				
PRAMEF11	440560	broad.mit.edu	37	1	12884845	12884845	+	Silent	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:12884845G>A	ENST00000535591.1	-	4	1461	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	422					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGACCTGTCGCCATGGTCAG	0.473																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1264-1266)ggC>ggT		PRAME family member 11							57.0	45.0	49.0					1																	12884845		692	1590	2282	SO:0001819	synonymous_variant	440560							g.chr1:12884845G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1266C>T	1.37:g.12884845G>A							p.G422G	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1461	-			422						Silent	SNP	ENST00000535591.1	37	c.1266C>T	CCDS53268.1																																																																																				0.473	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		11	367	0	0	0	0.000978	0	11	367				
HAPLN1	1404	broad.mit.edu	37	5	82940276	82940276	+	Silent	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr5:82940276C>A	ENST00000274341.4	-	4	1531	c.681G>T	c.(679-681)ggG>ggT	p.G227G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	227	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TGTTCTGCCCCCCACAGGGCT	0.517																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(679-681)ggG>ggT		hyaluronan and proteoglycan link protein 1							52.0	59.0	57.0					5																	82940276		2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940276C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.681G>T	5.37:g.82940276C>A							p.G227G	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1531	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	227			Link 1.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.681G>T	CCDS4061.1																																																																																				0.517	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		19	87	1	0	1.87028e-06	0.001882	3.66722e-06	19	87				
STRN4	29888	broad.mit.edu	37	19	47236332	47236332	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:47236332G>T	ENST00000263280.6	-	5	750	c.701C>A	c.(700-702)tCg>tAg	p.S234*	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Nonsense_Mutation_p.S115*|STRN4_ENST00000391910.3_Nonsense_Mutation_p.S234*	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	234						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CACCAGCAGCGACTCCCCACC	0.647																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(700-702)tCg>tAg		striatin, calmodulin binding protein 4							76.0	56.0	63.0					19																	47236332		2203	4300	6503	SO:0001587	stop_gained	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47236332G>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.701C>A	19.37:g.47236332G>T	ENSP00000263280:p.Ser234*					STRN4_ENST00000263280.6_Nonsense_Mutation_p.S234*|STRN4_ENST00000539396.1_Nonsense_Mutation_p.S115*	p.S234*			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	5	1151	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	234					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Nonsense_Mutation	SNP	ENST00000263280.6	37	c.701C>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074800	0.55646	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	.	.	.	4.98	2.85	0.33270	.	0.465279	0.21441	N	0.074491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2558	10.2676	0.43464	0.1638:0.0:0.8362:0.0	.	.	.	.	X	234;234;115;115	.	ENSP00000263280:S234X	S	-	2	0	STRN4	51928172	1.000000	0.71417	0.029000	0.17559	0.023000	0.10783	7.082000	0.76851	0.688000	0.31529	0.561000	0.74099	TCG		0.647	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			6	36	1	0	0.00116845	0.001168	0.00220461	6	36				
SLC2A9	56606	broad.mit.edu	37	4	9982359	9982359	+	Missense_Mutation	SNP	C	C	T	rs370374119		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:9982359C>T	ENST00000264784.3	-	5	591	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	SLC2A9_ENST00000309065.3_Missense_Mutation_p.V151I|SLC2A9_ENST00000506583.1_Missense_Mutation_p.V151I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	180					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CTGAGGGCGACGCCTGTAGAG	0.557																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(451-453)Gtc>Atc		solute carrier family 2 (facilitated glucose transporter), member 9							60.0	57.0	58.0					4																	9982359		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9982359C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.538G>A	4.37:g.9982359C>T	ENSP00000264784:p.Val180Ile					SLC2A9_ENST00000309065.3_Missense_Mutation_p.V151I|SLC2A9_ENST00000264784.3_Missense_Mutation_p.V180I	p.V151I			Q9NRM0	GTR9_HUMAN			7	668	-			180					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.451G>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	0.101	-1.151846	0.01700	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;T	0.80738	-0.8;-1.41;-0.8;-0.8	4.77	2.26	0.28386	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.310256	0.32753	N	0.005697	T	0.48132	0.1483	N	0.01202	-0.96	0.22280	N	0.999236	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39099	-0.9630	9	.	.	.	.	6.1634	0.20376	0.0:0.0881:0.1614:0.7505	.	151;180	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	I	151;180;151;151	ENSP00000422209:V151I;ENSP00000264784:V180I;ENSP00000311383:V151I;ENSP00000426800:V151I	.	V	-	1	0	SLC2A9	9591457	1.000000	0.71417	0.899000	0.35326	0.225000	0.24961	0.960000	0.29253	0.173000	0.19788	-0.295000	0.09555	GTC		0.557	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			4	43	0	0	0	0.000248	0	4	43				
MAML3	55534	broad.mit.edu	37	4	140641036	140641036	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:140641036A>T	ENST00000509479.2	-	5	3714	c.2858T>A	c.(2857-2859)aTg>aAg	p.M953K	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GACTGTTCCCATAAGGCTCTG	0.577																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2857-2859)aTg>aAg		mastermind-like 3 (Drosophila)							61.0	65.0	64.0					4																	140641036		2026	4181	6207	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641036A>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2858T>A	4.37:g.140641036A>T	ENSP00000421180:p.Met953Lys					MGST2_ENST00000515137.1_Intron	p.M953K	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			5	3714	-	all_hematologic(180;0.162)		949			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2858T>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.262826	0.39995	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.27890	1.64	4.86	4.86	0.63082	.	0.054609	0.64402	D	0.000001	T	0.38108	0.1028	M	0.78637	2.42	0.80722	D	1	B;B	0.31730	0.337;0.337	B;B	0.32211	0.142;0.142	T	0.39035	-0.9633	10	0.56958	D	0.05	.	14.7684	0.69657	1.0:0.0:0.0:0.0	.	953;949	E7EVW8;Q96JK9	.;MAML3_HUMAN	K	953;260	ENSP00000421180:M953K	ENSP00000421180:M953K	M	-	2	0	MAML3	140860486	1.000000	0.71417	0.996000	0.52242	0.506000	0.33950	7.620000	0.83070	1.946000	0.56461	0.482000	0.46254	ATG		0.577	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			55	79	0	0	0	0.003610	0	55	79				
LINC00336	401253	broad.mit.edu	37	6	33561062	33561062	+	RNA	SNP	C	C	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:33561062C>T	ENST00000477984.1	-	0	53					NR_027908.1		Q6ZUF6	NC336_HUMAN	long intergenic non-protein coding RNA 336																		CCACGACTGCCAGGCCACCCC	0.687																																						ENST00000477984.1																			0																				20.0	18.0	19.0					6																	33561062		2196	4292	6488			0							g.chr6:33561062C>T	AK125740		6p21.31	2012-10-12	2011-08-10	2011-08-10	ENSG00000197251	ENSG00000197251		"""Long non-coding RNAs"""	33813	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 227"", ""non-protein coding RNA 336"""	C6orf227, NCRNA00336			Standard	NR_027908		Approved	FLJ43752	uc003oew.1	Q6ZUF6	OTTHUMG00000159733		6.37:g.33561062C>T								NR_027908.1						0	53	-									RNA	SNP	ENST00000477984.1	37																																																																																						0.687	LINC00336-001	KNOWN	basic	antisense	antisense	OTTHUMT00000357085.1			7	15	0	0	0	0.003080	0	7	15				
MYOF	26509	broad.mit.edu	37	10	95089443	95089443	+	Missense_Mutation	SNP	C	C	T	rs200675152		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:95089443C>T	ENST00000359263.4	-	44	4959	c.4960G>A	c.(4960-4962)Ggc>Agc	p.G1654S	MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000371502.4_Missense_Mutation_p.G1673S|MYOF_ENST00000371501.4_Missense_Mutation_p.G1654S|MYOF_ENST00000358334.5_Missense_Mutation_p.G1641S	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1654					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTGGTATGCCGCAGTGGGAC	0.483																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(4960-4962)Ggc>Agc		myoferlin							87.0	87.0	87.0					10																	95089443		1914	4128	6042	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95089443C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4960G>A	10.37:g.95089443C>T	ENSP00000352208:p.Gly1654Ser					MYOF_ENST00000359263.4_Missense_Mutation_p.G1654S|MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000371502.4_Missense_Mutation_p.G1673S|MYOF_ENST00000358334.5_Missense_Mutation_p.G1641S	p.G1654S			Q9NZM1	MYOF_HUMAN			44	5082	-			1654					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.4960G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149046	0.94645	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.92048	-2.82;-2.83;-2.82;-2.96	5.3	5.3	0.74995	C2 calcium/lipid-binding domain, CaLB (1);	0.049473	0.85682	N	0.000000	D	0.96904	0.8989	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97064	0.9773	10	0.62326	D	0.03	-17.1626	19.1392	0.93441	0.0:1.0:0.0:0.0	.	1641;1654	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	S	1641;1654;1654;1673	ENSP00000351094:G1641S;ENSP00000352208:G1654S;ENSP00000360556:G1654S;ENSP00000360557:G1673S	ENSP00000351094:G1641S	G	-	1	0	MYOF	95079433	1.000000	0.71417	0.995000	0.50966	0.753000	0.42808	7.289000	0.78701	2.765000	0.95021	0.555000	0.69702	GGC		0.483	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		5	63	0	0	0	0.001168	0	5	63				
RTL1	388015	broad.mit.edu	37	14	101349274	101349274	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:101349274G>A	ENST00000534062.1	-	1	1910	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	MIR432_ENST00000606207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	618					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCACCCACAGGTTCCCAAGGC	0.542																																						ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(1852-1854)Cct>Tct		retrotransposon-like 1							42.0	37.0	39.0					14																	101349274		1568	3582	5150	SO:0001583	missense	388015							g.chr14:101349274G>A		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1852C>T	14.37:g.101349274G>A	ENSP00000435342:p.Pro618Ser						p.P618S	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	1910	-			618					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.1852C>T	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641952	0.47153	.	.	ENSG00000254656	ENST00000534062	T	0.44881	0.91	3.54	3.54	0.40534	.	0.000000	0.32093	N	0.006595	T	0.45597	0.1350	L	0.50333	1.59	0.09310	N	1	P	0.51791	0.948	P	0.52598	0.703	T	0.32693	-0.9897	10	0.66056	D	0.02	.	9.1845	0.37163	0.0:0.2227:0.7773:0.0	.	618	E9PKS8	.	S	618	ENSP00000435342:P618S	ENSP00000435342:P618S	P	-	1	0	RTL1	100419027	0.997000	0.39634	0.158000	0.22627	0.874000	0.50279	4.216000	0.58540	2.283000	0.76528	0.467000	0.42956	CCT		0.542	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		6	40	0	0	0	0.001168	0	6	40				
VCAM1	7412	broad.mit.edu	37	1	101188742	101188742	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:101188742C>G	ENST00000294728.2	+	3	608	c.507C>G	c.(505-507)gaC>gaG	p.D169E	VCAM1_ENST00000370115.1_Missense_Mutation_p.D169E|VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E|VCAM1_ENST00000347652.2_Missense_Mutation_p.D169E	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	169	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGGATGCAGACAGGAAGTCCC	0.418																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(505-507)gaC>gaG		vascular cell adhesion molecule 1	Carvedilol(DB01136)						105.0	98.0	100.0					1																	101188742		2203	4299	6502	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101188742C>G	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.507C>G	1.37:g.101188742C>G	ENSP00000294728:p.Asp169Glu					VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E|VCAM1_ENST00000370115.1_Missense_Mutation_p.D169E|VCAM1_ENST00000347652.2_Missense_Mutation_p.D169E	p.D169E	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	3	608	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	169			Ig-like C2-type 2.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.507C>G	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	0.842	-0.741489	0.03088	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.63	-11.3	0.00108	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.930593	0.09179	N	0.837743	T	0.01592	0.0051	N	0.25825	0.765	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35847	-0.9772	10	0.02654	T	1	4.0E-4	2.4176	0.04440	0.3672:0.147:0.3512:0.1346	.	107;169;169	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	E	107;169;169;169	ENSP00000359137:D107E;ENSP00000304611:D169E;ENSP00000294728:D169E;ENSP00000359133:D169E	ENSP00000294728:D169E	D	+	3	2	VCAM1	100961330	0.000000	0.05858	0.000000	0.03702	0.458000	0.32498	-5.770000	0.00099	-2.251000	0.00700	0.591000	0.81541	GAC		0.418	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		13	43	0	0	0	0.001368	0	13	43				
ALG12	79087	broad.mit.edu	37	22	50297538	50297538	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr22:50297538A>G	ENST00000330817.6	-	10	1688	c.1415T>C	c.(1414-1416)gTc>gCc	p.V472A	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	472					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCAGGTGGACGTTGAAGGG	0.657																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1414-1416)gTc>gCc		ALG12, alpha-1,6-mannosyltransferase							66.0	73.0	71.0					22																	50297538		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50297538A>G	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1415T>C	22.37:g.50297538A>G	ENSP00000333813:p.Val472Ala						p.V472A	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	10	1688	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	472					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.1415T>C	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.207047	0.39003	.	.	ENSG00000182858	ENST00000330817	D	0.82167	-1.58	5.41	5.41	0.78517	.	0.464926	0.22305	N	0.061804	T	0.81541	0.4844	M	0.63843	1.955	0.09310	N	1	P	0.42078	0.77	B	0.38921	0.285	T	0.78013	-0.2370	10	0.87932	D	0	-10.9644	15.1255	0.72481	1.0:0.0:0.0:0.0	.	472	Q9BV10	ALG12_HUMAN	A	472	ENSP00000333813:V472A	ENSP00000333813:V472A	V	-	2	0	ALG12	48683542	0.962000	0.33011	0.011000	0.14972	0.090000	0.18270	6.080000	0.71299	2.057000	0.61298	0.533000	0.62120	GTC		0.657	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		3	114	0	0	0	0.004672	0	3	114				
GPATCH1	55094	broad.mit.edu	37	19	33602720	33602720	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:33602720C>G	ENST00000170564.2	+	12	1990	c.1676C>G	c.(1675-1677)gCa>gGa	p.A559G		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	559					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTGCTGTACGCATCTTCCCAT	0.607																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1675-1677)gCa>gGa		G patch domain containing 1							132.0	112.0	119.0					19																	33602720		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33602720C>G	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1676C>G	19.37:g.33602720C>G	ENSP00000170564:p.Ala559Gly						p.A559G	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			12	1990	+	Esophageal squamous(110;0.137)		559					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1676C>G	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	7.350	0.622767	0.14193	.	.	ENSG00000076650	ENST00000170564	T	0.32988	1.43	5.73	-7.96	0.01144	.	0.450296	0.24917	N	0.034576	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B	0.31769	0.339	B	0.27076	0.076	T	0.08351	-1.0726	10	0.52906	T	0.07	-0.5288	4.8307	0.13439	0.1684:0.4927:0.1616:0.1773	.	559	Q9BRR8	GPTC1_HUMAN	G	559	ENSP00000170564:A559G	ENSP00000170564:A559G	A	+	2	0	GPATCH1	38294560	0.005000	0.15991	0.005000	0.12908	0.160000	0.22226	0.386000	0.20702	-1.536000	0.01738	-1.720000	0.00707	GCA		0.607	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		3	119	0	0	0	0.004672	0	3	119				
CSGALNACT2	55454	broad.mit.edu	37	10	43650664	43650664	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:43650664T>A	ENST00000374466.3	+	2	402	c.67T>A	c.(67-69)Tgc>Agc	p.C23S	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.C23S	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	23					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGCTTTGCTCTGCAGTTTGGT	0.438																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(67-69)Tgc>Agc		chondroitin sulfate N-acetylgalactosaminyltransferase 2							118.0	103.0	108.0					10																	43650664		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650664T>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.67T>A	10.37:g.43650664T>A	ENSP00000363590:p.Cys23Ser					CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.C23S	p.C23S	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			2	402	+			23					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.67T>A	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.513092	0.44660	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.23754	1.92;1.89	5.86	5.86	0.93980	.	0.193780	0.56097	D	0.000030	T	0.27559	0.0677	L	0.49778	1.585	0.27360	N	0.955988	B;B	0.17465	0.022;0.008	B;B	0.15052	0.012;0.009	T	0.10847	-1.0612	10	0.41790	T	0.15	-7.8942	16.2644	0.82568	0.0:0.0:0.0:1.0	.	23;23	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	S	23	ENSP00000363590:C23S;ENSP00000363588:C23S	ENSP00000363588:C23S	C	+	1	0	CSGALNACT2	42970670	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.862000	0.48388	2.244000	0.73946	0.528000	0.53228	TGC		0.438	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		5	84	0	0	0	0.001168	0	5	84				
ANKS1B	56899	broad.mit.edu	37	12	99837459	99837459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr12:99837459G>A	ENST00000547776.2	-	11	1566	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.R523*|ANKS1B_ENST00000547010.1_Nonsense_Mutation_p.R103*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	523						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACCTGGGGTCGAATGACTTTT	0.423																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(1567-1569)Cga>Tga		ankyrin repeat and sterile alpha motif domain containing 1B							146.0	141.0	143.0					12																	99837459		1887	4113	6000	SO:0001587	stop_gained	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99837459G>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1567C>T	12.37:g.99837459G>A	ENSP00000449629:p.Arg523*					ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.R523*|ANKS1B_ENST00000547010.1_Nonsense_Mutation_p.R103*	p.R523*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	11	1566	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	523					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Nonsense_Mutation	SNP	ENST00000547776.2	37	c.1567C>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	39	7.510718	0.98329	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	.	.	.	6.04	5.14	0.70334	.	0.086088	0.45361	D	0.000362	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6161	14.9348	0.70944	0.0:0.0:0.8569:0.1431	.	.	.	.	X	523;103;523;102;489	.	.	R	-	1	2	ANKS1B	98361590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.328000	0.90014	1.525000	0.49052	0.563000	0.77884	CGA		0.423	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		4	84	0	0	0	0.000248	0	4	84				
CEBPB	1051	broad.mit.edu	37	20	48807874	48807885	+	In_Frame_Del	DEL	CCCGCGCCCGCC	CCCGCGCCCGCC	-			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr20:48807874_48807885delCCCGCGCCCGCC	ENST00000303004.3	+	1	499_510	c.304_315delCCCGCGCCCGCC	c.(304-315)cccgcgcccgccdel	p.PAPA106del		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	106					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GGCGGCTccgcccgcgcccgcccccgcgcccg	0.745																																						ENST00000303004.3																			0				NS(1)|lung(1)	2						c.(304-315)del		CCAAT/enhancer binding protein (C/EBP), beta																																				SO:0001651	inframe_deletion	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48807874_48807885delCCCGCGCCCGCC	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"""basic leucine zipper proteins"""	1834	protein-coding gene	gene with protein product	"""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6"", ""interleukin 6-dependent DNA-binding protein"""	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.304_315delCCCGCGCCCGCC	20.37:g.48807874_48807885delCCCGCGCCCGCC	ENSP00000305422:p.Pro106_Ala109del						p.PAPA106del	NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		1	499_510	+			106					A8K671|Q96IH2|Q9H4Z5	In_Frame_Del	DEL	ENST00000303004.3	37	c.304_315delCCCGCGCCCGCC	CCDS13429.1																																																																																				0.745	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1	NM_005194		3	3						3	3	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			7	122						7	122	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	6						3	6	---	---	---	---
