#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
FAT2	2196	broad.mit.edu	37	5	150932752	150932752	+	Missense_Mutation	SNP	C	C	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:150932752C>G	ENST00000261800.5	-	5	4154	c.4142G>C	c.(4141-4143)tGg>tCg	p.W1381S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1381	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGTTGAACCAGAAGAGTCC	0.552																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4141-4143)tGg>tCg		FAT atypical cadherin 2							89.0	85.0	86.0					5																	150932752		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150932752C>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4142G>C	5.37:g.150932752C>G	ENSP00000261800:p.Trp1381Ser						p.W1381S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	4154	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1381			Cadherin 12.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4142G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765452	0.69878	.	.	ENSG00000086570	ENST00000261800	T	0.46063	0.88	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000033	T	0.58821	0.2149	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.51537	-0.8693	10	0.12430	T	0.62	.	17.8145	0.88627	0.0:1.0:0.0:0.0	.	1381	Q9NYQ8	FAT2_HUMAN	S	1381	ENSP00000261800:W1381S	ENSP00000261800:W1381S	W	-	2	0	FAT2	150912945	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.542000	0.67218	2.453000	0.82957	0.561000	0.74099	TGG		0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		27	43	0	0	0	1	0	27	43				
TELO2	9894	broad.mit.edu	37	16	1545588	1545588	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:1545588G>A	ENST00000262319.6	+	3	856	c.577G>A	c.(577-579)Gtc>Atc	p.V193I		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	193					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CGAGGAGGTCGTCCGGGTGCT	0.672																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(577-579)Gtc>Atc		telomere maintenance 2							51.0	52.0	52.0					16																	1545588		2198	4300	6498	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1545588G>A	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.577G>A	16.37:g.1545588G>A	ENSP00000262319:p.Val193Ile						p.V193I	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			3	856	+		Hepatocellular(780;0.219)	193					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.577G>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	2.601	-0.292934	0.05568	.	.	ENSG00000100726	ENST00000262319	D	0.84070	-1.8	5.33	-8.16	0.01061	.	0.708276	0.13604	N	0.375640	T	0.61825	0.2378	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.53387	-0.8446	10	0.11794	T	0.64	-10.6845	9.3748	0.38277	0.315:0.4641:0.2209:0.0	.	193	Q9Y4R8	TELO2_HUMAN	I	193	ENSP00000262319:V193I	ENSP00000262319:V193I	V	+	1	0	TELO2	1485589	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.033000	0.03571	-0.990000	0.03481	-0.885000	0.02943	GTC		0.672	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		31	48	0	0	0	1	0	31	48				
KLRC1	3821	broad.mit.edu	37	12	10601988	10601988	+	Splice_Site	SNP	C	C	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr12:10601988C>A	ENST00000359151.3	-	5	519		c.e5-1		KLRC1_ENST00000408006.3_Splice_Site|KLRC1_ENST00000536188.1_Splice_Site|KLRC1_ENST00000347831.5_Splice_Site|KLRC1_ENST00000544822.1_Splice_Site	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1						cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CAATGACGTGCTAAATAAAGA	0.333																																						ENST00000544822.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.e6-1		killer cell lectin-like receptor subfamily C, member 1							147.0	150.0	149.0					12																	10601988		2203	4300	6503	SO:0001630	splice_region_variant	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10601988C>A	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.338-1G>T	12.37:g.10601988C>A						KLRC1_ENST00000347831.5_Splice_Site|KLRC1_ENST00000408006.3_Splice_Site|KLRC1_ENST00000536188.1_Splice_Site|KLRC1_ENST00000359151.3_Splice_Site		NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN			6	725	-									Splice_Site	SNP	ENST00000359151.3	37		CCDS8625.1	.	.	.	.	.	.	.	.	.	.	c	5.252	0.231941	0.09969	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	.	.	.	4.46	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.36616	D	0.875503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7495	0.46200	0.0:0.8064:0.1936:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLRC1	10493255	0.044000	0.20184	0.036000	0.18154	0.009000	0.06853	0.703000	0.25646	0.974000	0.38366	0.563000	0.77884	.		0.333	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259	Intron	4	237	1	0	0.00909568	1	0.00909568	4	237				
TPSD1	23430	broad.mit.edu	37	16	1308192	1308192	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:1308192G>A	ENST00000211076.3	+	4	801	c.653G>A	c.(652-654)tGt>tAt	p.C218Y	TPSD1_ENST00000397534.2_Missense_Mutation_p.C211Y|RP11-616M22.5_ENST00000566997.1_RNA|PRSS29P_ENST00000568091.1_lincRNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	218	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GACATGCTGTGTGCGGGGAGC	0.627																																						ENST00000211076.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(652-654)tGt>tAt		tryptase delta 1							54.0	55.0	54.0					16																	1308192		2198	4299	6497	SO:0001583	missense	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1308192G>A	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.653G>A	16.37:g.1308192G>A	ENSP00000211076:p.Cys218Tyr					TPSD1_ENST00000397534.2_Missense_Mutation_p.C211Y	p.C218Y	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN			4	801	+		Hepatocellular(780;0.00369)	218			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.653G>A	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	N	18.64	3.668478	0.67814	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.89343	-2.5;-2.5	3.31	3.31	0.37934	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.50627	D	0.000103	D	0.96787	0.8951	H	0.99454	4.575	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.97350	0.9963	10	0.87932	D	0	.	12.4326	0.55583	0.0:0.0:1.0:0.0	.	202;218	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	Y	211;218	ENSP00000380668:C211Y;ENSP00000211076:C218Y	ENSP00000211076:C218Y	C	+	2	0	TPSD1	1248193	1.000000	0.71417	0.984000	0.44739	0.083000	0.17756	5.224000	0.65288	1.537000	0.49254	0.478000	0.44815	TGT		0.627	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			10	28	0	0	0	1	0	10	28				
AHNAK	79026	broad.mit.edu	37	11	62300247	62300247	+	Silent	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:62300247G>A	ENST00000378024.4	-	5	1916	c.1642C>T	c.(1642-1644)Cta>Tta	p.L548L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	548					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTCCCTCTAGGTTTGGTGTC	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1642-1644)Cta>Tta		AHNAK nucleoprotein							98.0	106.0	104.0					11																	62300247		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62300247G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1642C>T	11.37:g.62300247G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L548L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	1916	-		Melanoma(852;0.155)	548					A1A586	Silent	SNP	ENST00000378024.4	37	c.1642C>T	CCDS31584.1																																																																																				0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	172	0	0	0	1	0	8	172				
DNAH9	1770	broad.mit.edu	37	17	11584134	11584134	+	Missense_Mutation	SNP	G	G	A	rs558363367		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:11584134G>A	ENST00000262442.4	+	19	3739	c.3671G>A	c.(3670-3672)cGc>cAc	p.R1224H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1224H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1224	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACACTCCTCCGCCAGAGGTGC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.001		0.0	False		,,,				2504	0.0					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3670-3672)cGc>cAc		dynein, axonemal, heavy chain 9							66.0	55.0	58.0					17																	11584134		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11584134G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3671G>A	17.37:g.11584134G>A	ENSP00000262442:p.Arg1224His					DNAH9_ENST00000454412.2_Missense_Mutation_p.R1224H	p.R1224H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	19	3739	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1224			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3671G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175256	0.94807	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.24538	1.85;1.85	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.65413	-0.6174	10	0.72032	D	0.01	.	19.4796	0.95003	0.0:0.0:1.0:0.0	.	1224	Q9NYC9	DYH9_HUMAN	H	1224	ENSP00000262442:R1224H;ENSP00000414874:R1224H	ENSP00000262442:R1224H	R	+	2	0	DNAH9	11524859	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.813000	0.99286	2.687000	0.91594	0.563000	0.77884	CGC		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	23	0	0	0	1	0	3	23				
MAP4K3	8491	broad.mit.edu	37	2	39499514	39499514	+	Missense_Mutation	SNP	T	T	C			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:39499514T>C	ENST00000263881.3	-	26	2207	c.1883A>G	c.(1882-1884)aAt>aGt	p.N628S	MAP4K3_ENST00000437545.1_Missense_Mutation_p.N544S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.N607S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.N181S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	628	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCCTGGTAAATTATGGGAATA	0.328																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1882-1884)aAt>aGt		mitogen-activated protein kinase kinase kinase kinase 3							72.0	74.0	73.0					2																	39499514		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39499514T>C	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1883A>G	2.37:g.39499514T>C	ENSP00000263881:p.Asn628Ser					MAP4K3_ENST00000341681.5_Missense_Mutation_p.N607S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.N181S|MAP4K3_ENST00000437545.1_Missense_Mutation_p.N544S	p.N628S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			26	2207	-		all_hematologic(82;0.211)	628			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.1883A>G	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375027	0.24857	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.78	5.78	0.91487	Citron-like (3);	0.154326	0.56097	D	0.000028	T	0.05318	0.0141	L	0.28694	0.88	0.58432	D	0.999998	B;B	0.23735	0.036;0.09	B;B	0.26517	0.031;0.07	T	0.47761	-0.9092	10	0.16420	T	0.52	.	16.1215	0.81361	0.0:0.0:0.0:1.0	.	607;628	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	S	628;544;607;181	ENSP00000263881:N628S;ENSP00000416958:N544S;ENSP00000345434:N607S;ENSP00000440580:N181S	ENSP00000263881:N628S	N	-	2	0	MAP4K3	39353018	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.497000	0.60367	2.208000	0.71279	0.528000	0.53228	AAT		0.328	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		4	100	0	0	0	1	0	4	100				
RAB3IL1	5866	broad.mit.edu	37	11	61675752	61675752	+	Missense_Mutation	SNP	G	G	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:61675752G>T	ENST00000394836.2	-	2	195	c.38C>A	c.(37-39)cCg>cAg	p.P13Q	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.P60Q	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	13					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						AAGGGGCGGCGGGAGGCCCTG	0.677																																						ENST00000394836.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						c.(37-39)cCg>cAg		RAB3A interacting protein (rabin3)-like 1							6.0	7.0	6.0					11																	61675752		2129	4222	6351	SO:0001583	missense	5866						protein binding	g.chr11:61675752G>T	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.38C>A	11.37:g.61675752G>T	ENSP00000378313:p.Pro13Gln					RAB3IL1_ENST00000301773.5_Missense_Mutation_p.P60Q	p.P13Q	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN			2	195	-			13					Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	c.38C>A	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088008	0.55968	.	.	ENSG00000167994	ENST00000394836;ENST00000301773;ENST00000531922	T;T;T	0.47869	1.49;1.42;0.83	4.87	3.88	0.44766	.	0.198828	0.33364	N	0.004993	T	0.51736	0.1692	L	0.47716	1.5	0.36729	D	0.881626	D;D	0.59767	0.977;0.986	P;P	0.55615	0.773;0.78	T	0.59773	-0.7391	10	0.52906	T	0.07	-11.4066	10.6197	0.45472	0.0:0.1949:0.8051:0.0	.	60;13	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	Q	13;60;60	ENSP00000378313:P13Q;ENSP00000301773:P60Q;ENSP00000435444:P60Q	ENSP00000301773:P60Q	P	-	2	0	RAB3IL1	61432328	0.035000	0.19736	0.936000	0.37596	0.779000	0.44077	0.089000	0.15002	2.421000	0.82119	0.561000	0.74099	CCG		0.677	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		5	7	1	0	8.12818e-05	1	8.50624e-05	5	7				
SAMD9L	219285	broad.mit.edu	37	7	92763468	92763468	+	Missense_Mutation	SNP	T	T	C			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:92763468T>C	ENST00000318238.4	-	5	3033	c.1817A>G	c.(1816-1818)aAc>aGc	p.N606S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N606S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N606S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	606					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATACTGTGGTTTGTTAGTTC	0.368																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1816-1818)aAc>aGc		sterile alpha motif domain containing 9-like							99.0	98.0	99.0					7																	92763468		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92763468T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1817A>G	7.37:g.92763468T>C	ENSP00000326247:p.Asn606Ser					SAMD9L_ENST00000437805.1_Missense_Mutation_p.N606S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N606S	p.N606S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3033	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		606					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1817A>G	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	2.151	-0.394482	0.04899	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.21734	1.99;1.99;1.99	4.86	3.71	0.42584	.	0.475155	0.21183	N	0.078782	T	0.15305	0.0369	L	0.36672	1.1	0.21740	N	0.999566	B	0.23806	0.091	B	0.22386	0.039	T	0.24440	-1.0160	10	0.16896	T	0.51	-5.5217	10.1754	0.42935	0.0:0.0797:0.0:0.9203	.	606	Q8IVG5	SAM9L_HUMAN	S	606	ENSP00000326247:N606S;ENSP00000405760:N606S;ENSP00000408796:N606S	ENSP00000326247:N606S	N	-	2	0	SAMD9L	92601404	0.000000	0.05858	0.973000	0.42090	0.689000	0.40095	0.634000	0.24614	0.885000	0.36088	0.383000	0.25322	AAC		0.368	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		4	128	0	0	0	1	0	4	128				
MYH2	4620	broad.mit.edu	37	17	10435136	10435136	+	Missense_Mutation	SNP	T	T	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:10435136T>A	ENST00000245503.5	-	22	2895	c.2511A>T	c.(2509-2511)aaA>aaT	p.K837N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K837N|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	837					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAAGAAGAGTTTCATCCAGG	0.403																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2509-2511)aaA>aaT		myosin, heavy chain 2, skeletal muscle, adult							111.0	107.0	108.0					17																	10435136		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10435136T>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2511A>T	17.37:g.10435136T>A	ENSP00000245503:p.Lys837Asn					MYH2_ENST00000397183.2_Missense_Mutation_p.K837N|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	p.K837N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			22	2895	-			837					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2511A>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716315	0.30413	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.74526	-0.85;-0.85	4.84	0.179	0.15063	.	0.178185	0.26183	U	0.025851	T	0.70919	0.3279	M	0.77103	2.36	0.42940	D	0.994343	B	0.02656	0.0	B	0.10450	0.005	T	0.64110	-0.6484	10	0.51188	T	0.08	.	10.1535	0.42809	0.0:0.5758:0.0:0.4242	.	837	Q9UKX2	MYH2_HUMAN	N	837	ENSP00000245503:K837N;ENSP00000380367:K837N	ENSP00000245503:K837N	K	-	3	2	MYH2	10375861	0.983000	0.35010	0.967000	0.41034	0.623000	0.37688	0.229000	0.17833	-0.171000	0.10797	-0.254000	0.11334	AAA		0.403	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		5	158	0	0	0	1	0	5	158				
DNAH9	1770	broad.mit.edu	37	17	11684410	11684410	+	Missense_Mutation	SNP	A	A	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:11684410A>G	ENST00000262442.4	+	39	7705	c.7637A>G	c.(7636-7638)gAc>gGc	p.D2546G	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2546	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCATTGATGACATGAACATG	0.547																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7636-7638)gAc>gGc		dynein, axonemal, heavy chain 9							64.0	54.0	58.0					17																	11684410		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11684410A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7637A>G	17.37:g.11684410A>G	ENSP00000262442:p.Asp2546Gly					DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	39	7705	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2546			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7637A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599729	0.87055	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.47528	0.84;0.84	5.08	5.08	0.68730	ATPase, AAA+ type, core (1);	0.135950	0.48286	D	0.000189	D	0.82674	0.5088	H	0.99689	4.705	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.90686	0.4609	10	0.87932	D	0	.	15.1359	0.72566	1.0:0.0:0.0:0.0	.	2546	Q9NYC9	DYH9_HUMAN	G	2546;2546;1128	ENSP00000262442:D2546G;ENSP00000414874:D2546G	ENSP00000262442:D2546G	D	+	2	0	DNAH9	11625135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.244000	0.95423	2.043000	0.60533	0.519000	0.50382	GAC		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	40	0	0	0	1	0	4	40				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			4	133	0	0	0	1	0	4	133				
TBC1D3P2	440452	broad.mit.edu	37	17	60342504	60342504	+	RNA	SNP	T	T	C	rs200286216		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:60342504T>C	ENST00000581291.1	-	0	1649									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						CAGTGCTGGGTGCACTGCAGG	0.637																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342504T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342504T>C														0	1649	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.637	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		4	60	0	0	0	1	0	4	60				
TGFBI	7045	broad.mit.edu	37	5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																						ENST00000442011.2																			1	Substitution - Missense(1)	p.G460D(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gGc>gAc		transforming growth factor, beta-induced, 68kDa							179.0	180.0	179.0					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	246	0	0	0	1	0	6	246				
LCT	3938	broad.mit.edu	37	2	136594247	136594247	+	Silent	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:136594247G>A	ENST00000264162.2	-	1	503	c.493C>T	c.(493-495)Cta>Tta	p.L165L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	165	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATCCCAACTAGGTCCCCGAAG	0.577																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(493-495)Cta>Tta		lactase							104.0	91.0	96.0					2																	136594247		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136594247G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.493C>T	2.37:g.136594247G>A							p.L165L	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	1	503	-			165			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.493C>T	CCDS2178.1																																																																																				0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		4	82	0	0	0	1	0	4	82				
PLEKHG4	25894	broad.mit.edu	37	16	67316416	67316416	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:67316416G>A	ENST00000360461.5	+	9	3799	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.D422N|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.D341N|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.D422N	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	422							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GACGGCAATGGACAAGGCTGA	0.562																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1264-1266)Gac>Aac		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							100.0	86.0	90.0					16																	67316416		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67316416G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1264G>A	16.37:g.67316416G>A	ENSP00000353646:p.Asp422Asn					PLEKHG4_ENST00000427155.2_Missense_Mutation_p.D422N|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.D422N|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.D341N	p.D422N	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	9	3799	+			422					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.1264G>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874003	0.51695	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.10477	2.87;2.87;2.87;2.89	5.73	5.73	0.89815	.	0.000000	0.35124	N	0.003424	T	0.25457	0.0619	M	0.67953	2.075	0.29730	N	0.837943	D;D	0.63046	0.992;0.986	P;P	0.55923	0.787;0.617	T	0.03077	-1.1075	10	0.40728	T	0.16	.	15.4026	0.74852	0.0:0.0:1.0:0.0	.	341;422	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	N	422;422;422;341	ENSP00000353646:D422N;ENSP00000401118:D422N;ENSP00000368649:D422N;ENSP00000398030:D341N	ENSP00000353646:D422N	D	+	1	0	PLEKHG4	65873917	1.000000	0.71417	0.939000	0.37840	0.181000	0.23173	4.001000	0.57046	2.722000	0.93159	0.655000	0.94253	GAC		0.562	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		7	54	0	0	0	1	0	7	54				
RTF1	23168	broad.mit.edu	37	15	41769448	41769448	+	Missense_Mutation	SNP	T	T	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr15:41769448T>A	ENST00000389629.4	+	13	1658	c.1646T>A	c.(1645-1647)cTg>cAg	p.L549Q		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	549					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GCAGAGGCCCTGGACCGCCAG	0.542																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1645-1647)cTg>cAg		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							117.0	127.0	124.0					15																	41769448		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41769448T>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1646T>A	15.37:g.41769448T>A	ENSP00000374280:p.Leu549Gln						p.L549Q	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	13	1658	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	549					Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.1646T>A	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	T	31	5.093422	0.94149	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	M	0.75615	2.305	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.74206	-0.3740	9	0.22109	T	0.4	-10.1837	15.6278	0.76874	0.0:0.0:0.0:1.0	.	549	Q92541	RTF1_HUMAN	Q	549	.	ENSP00000374280:L549Q	L	+	2	0	RTF1	39556740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.504000	0.81646	2.280000	0.76307	0.460000	0.39030	CTG		0.542	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		14	125	0	0	0	1	0	14	125				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		7	78	0	0	0	1	0	7	78				
CRTC1	23373	broad.mit.edu	37	19	18888093	18888093	+	Silent	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr19:18888093C>T	ENST00000321949.8	+	14	1832	c.1806C>T	c.(1804-1806)atC>atT	p.I602I	CRTC1_ENST00000338797.6_Silent_p.I618I|CRTC1_ENST00000601916.1_Silent_p.I360I|CRTC1_ENST00000594658.1_Silent_p.I561I	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AACTCAAGATCGACCCCCTGA	0.642																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1852-1854)atC>atT		CREB regulated transcription coactivator 1							190.0	203.0	199.0					19																	18888093		2203	4300	6503	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18888093C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1806C>T	19.37:g.18888093C>T						CRTC1_ENST00000594658.1_Silent_p.I561I|CRTC1_ENST00000321949.8_Silent_p.I602I|CRTC1_ENST00000601916.1_Silent_p.I360I	p.I618I	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			15	1879	+			602						Silent	SNP	ENST00000321949.8	37	c.1854C>T	CCDS32963.1																																																																																				0.642	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		138	198	0	0	0	1	0	138	198				
TMEM220	388335	broad.mit.edu	37	17	10628335	10628335	+	Missense_Mutation	SNP	C	C	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:10628335C>G	ENST00000341871.3	-	4	744	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000578345.1_Missense_Mutation_p.E84Q|TMEM220_ENST00000455996.2_Missense_Mutation_p.E84Q	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	94						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						CACCTGCCTTCTTCCTCATGT	0.473																																						ENST00000341871.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(280-282)Gaa>Caa		transmembrane protein 220							197.0	178.0	185.0					17																	10628335		2203	4300	6503	SO:0001583	missense	388335					integral to membrane		g.chr17:10628335C>G		CCDS32567.1	17p13.1	2008-08-08			ENSG00000187824	ENSG00000187824			33757	protein-coding gene	gene with protein product							Standard	NM_001004313		Approved		uc002gmx.3	Q6QAJ8		ENST00000341871.3:c.280G>C	17.37:g.10628335C>G	ENSP00000339830:p.Glu94Gln					TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000455996.2_Missense_Mutation_p.E84Q|TMEM220_ENST00000578345.1_Missense_Mutation_p.E84Q	p.E94Q	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN			4	744	-			94					A1YRJ4|B2RNE4|B4DJ52|B9EGW3	Missense_Mutation	SNP	ENST00000341871.3	37	c.280G>C	CCDS32567.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600718	0.46423	.	.	ENSG00000187824	ENST00000341871;ENST00000455996	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	M	0.66939	2.045	0.50467	D	0.999874	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78790	-0.2066	9	0.66056	D	0.02	-10.8113	17.2904	0.87154	0.0:1.0:0.0:0.0	.	84;94	Q6QAJ8-2;Q6QAJ8	.;TM220_HUMAN	Q	94;84	.	ENSP00000339830:E94Q	E	-	1	0	TMEM220	10569060	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.970000	0.63742	2.820000	0.97059	0.650000	0.86243	GAA		0.473	TMEM220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440333.1	NM_001004313		9	130	0	0	0	1	0	9	130				
OR56A4	120793	broad.mit.edu	37	11	6024219	6024219	+	Missense_Mutation	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:6024219C>T	ENST00000330728.4	-	1	205	c.160G>A	c.(160-162)Gca>Aca	p.A54T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGAGATGCCATGTAAAGT	0.473																																						ENST00000330728.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(160-162)Gca>Aca		olfactory receptor, family 56, subfamily A, member 4							121.0	115.0	117.0					11																	6024219		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6024219C>T	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.160G>A	11.37:g.6024219C>T	ENSP00000328215:p.Ala54Thr						p.A54T	NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	205	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	2					B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.160G>A	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579804	0.46006	.	.	ENSG00000183389	ENST00000330728	T	0.00590	6.36	3.43	0.426	0.16479	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.20403	N	0.999908	B	0.10296	0.003	B	0.08055	0.003	T	0.44997	-0.9291	9	0.49607	T	0.09	.	2.9258	0.05784	0.1962:0.4548:0.0:0.349	.	2	Q8NGH8	O56A4_HUMAN	T	54	ENSP00000328215:A54T	ENSP00000328215:A54T	A	-	1	0	OR56A4	5980795	0.012000	0.17670	0.129000	0.21949	0.841000	0.47740	-0.294000	0.08309	-0.021000	0.14009	0.555000	0.69702	GCA		0.473	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		20	35	0	0	0	1	0	20	35				
KLHDC8B	200942	broad.mit.edu	37	3	49210376	49210376	+	Silent	SNP	A	A	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr3:49210376A>G	ENST00000332780.2	+	2	383	c.174A>G	c.(172-174)acA>acG	p.T58T	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	58						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCGCACACATGGCTGGCAC	0.652																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(172-174)acA>acG		kelch domain containing 8B							59.0	53.0	55.0					3																	49210376		2203	4300	6503	SO:0001819	synonymous_variant	200942					cytoplasm		g.chr3:49210376A>G		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.174A>G	3.37:g.49210376A>G						KLHDC8B_ENST00000476495.2_3'UTR	p.T58T	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	383	+			58						Silent	SNP	ENST00000332780.2	37	c.174A>G	CCDS2791.1																																																																																				0.652	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		5	51	0	0	0	1	0	5	51				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			37	53	0	0	0	1	0	37	53				
CAT	847	broad.mit.edu	37	11	34473715	34473715	+	Silent	SNP	A	A	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:34473715A>G	ENST00000241052.4	+	4	530	c.441A>G	c.(439-441)ggA>ggG	p.G147G		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	147					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATCTCGTTGGAAATAACACCC	0.403																																						ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(439-441)ggA>ggG		catalase	Fomepizole(DB01213)						110.0	108.0	109.0					11																	34473715		2202	4298	6500	SO:0001819	synonymous_variant	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34473715A>G	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.441A>G	11.37:g.34473715A>G							p.G147G	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	4	530	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	147					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Silent	SNP	ENST00000241052.4	37	c.441A>G	CCDS7891.1																																																																																				0.403	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		26	58	0	0	0	1	0	26	58				
SPATA31E1	286234	broad.mit.edu	37	9	90500387	90500387	+	Missense_Mutation	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr9:90500387C>T	ENST00000325643.5	+	4	1051	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	329					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATCCCAGCCACGGCATCTTCC	0.617																																						ENST00000325643.5																			0											c.(985-987)Cgg>Tgg		SPATA31 subfamily E, member 1							48.0	51.0	50.0					9																	90500387		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90500387C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.985C>T	9.37:g.90500387C>T	ENSP00000322640:p.Arg329Trp						p.R329W	NM_178828.4	NP_849150.3					4	1051	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.985C>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	8.046	0.764874	0.15914	.	.	ENSG00000177992	ENST00000325643	T	0.03553	3.89	2.19	0.153	0.14897	.	1.435330	0.04726	N	0.420210	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	P	0.46578	0.88	B	0.24269	0.052	T	0.40059	-0.9583	10	0.72032	D	0.01	.	3.6275	0.08119	0.1779:0.3458:0.4763:0.0	.	329	Q6ZUB1	CI079_HUMAN	W	329	ENSP00000322640:R329W	ENSP00000322640:R329W	R	+	1	2	C9orf79	89690207	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.089000	0.15002	0.025000	0.15241	-0.310000	0.09108	CGG		0.617	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		15	11	0	0	0	1	0	15	11				
SLC13A4	26266	broad.mit.edu	37	7	135378959	135378959	+	Missense_Mutation	SNP	C	C	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:135378959C>G	ENST00000354042.4	-	10	1733	c.1044G>C	c.(1042-1044)aaG>aaC	p.K348N		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	348					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTCTTCTTCTTGCTCAGAG	0.393																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1042-1044)aaG>aaC		solute carrier family 13 (sodium/sulfate symporter), member 4							191.0	178.0	183.0					7																	135378959		2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135378959C>G	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1044G>C	7.37:g.135378959C>G	ENSP00000297282:p.Lys348Asn						p.K348N	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			10	1733	-			348					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1044G>C	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115551	0.77323	.	.	ENSG00000164707	ENST00000354042	T	0.70631	-0.5	5.5	4.43	0.53597	.	0.049055	0.85682	D	0.000000	T	0.72771	0.3502	L	0.41236	1.265	0.58432	D	0.999997	D;D	0.71674	0.998;0.984	P;P	0.60541	0.876;0.828	T	0.67887	-0.5554	10	0.25106	T	0.35	-15.5661	12.4688	0.55775	0.0:0.9052:0.0:0.0948	.	217;348	Q59HF0;Q9UKG4	.;S13A4_HUMAN	N	348	ENSP00000297282:K348N	ENSP00000297282:K348N	K	-	3	2	SLC13A4	135029499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.585000	0.53943	2.584000	0.87258	0.563000	0.77884	AAG		0.393	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		6	126	0	0	0	1	0	6	126				
ABCA7	10347	broad.mit.edu	37	19	1057960	1057960	+	Missense_Mutation	SNP	G	G	A	rs141237099	byFrequency	TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr19:1057960G>A	ENST00000263094.6	+	36	5158	c.4927G>A	c.(4927-4929)Gtg>Atg	p.V1643M	ABCA7_ENST00000433129.1_Missense_Mutation_p.V1643M|ABCA7_ENST00000435683.2_Missense_Mutation_p.V1505M	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1643					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTTCTCCGTGCCCAGCAC	0.522													G|||	4	0.000798722	0.0023	0.0	5008	,	,		17142	0.0		0.001	False		,,,				2504	0.0					ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(4927-4929)Gtg>Atg		ATP-binding cassette, sub-family A (ABC1), member 7		G	MET/VAL	3,4403	6.2+/-15.9	0,3,2200	161.0	145.0	151.0		4927	3.2	1.0	19	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABCA7	NM_019112.3	21	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	1643/2147	1057960	4,13002	2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1057960G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4927G>A	19.37:g.1057960G>A	ENSP00000263094:p.Val1643Met					ABCA7_ENST00000435683.2_Missense_Mutation_p.V1505M|ABCA7_ENST00000433129.1_Missense_Mutation_p.V1643M	p.V1643M	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	36	5158	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1643					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.4927G>A	CCDS12055.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	0	0.0	1	0.0013192612137203166	G	17.11	3.305414	0.60305	6.81E-4	1.16E-4	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.82893	-1.66;-1.66	4.22	3.17	0.36434	.	.	.	.	.	D	0.87026	0.6075	M	0.84773	2.715	0.27349	N	0.956292	D	0.89917	1.0	D	0.75484	0.986	T	0.78393	-0.2221	9	0.72032	D	0.01	.	6.1324	0.20213	0.3001:0.0:0.6999:0.0	.	1643	Q8IZY2	ABCA7_HUMAN	M	1643	ENSP00000263094:V1643M;ENSP00000414062:V1643M	ENSP00000263094:V1643M	V	+	1	0	ABCA7	1008960	0.911000	0.30947	0.995000	0.50966	0.969000	0.65631	1.426000	0.34870	0.975000	0.38392	0.561000	0.74099	GTG		0.522	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		4	142	0	0	0	1	0	4	142				
SCN3A	6328	broad.mit.edu	37	2	166010994	166010994	+	Missense_Mutation	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:166010994C>T	ENST00000360093.3	-	11	1839	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	SCN3A_ENST00000409101.3_Missense_Mutation_p.E450K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E450K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	450					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E450K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTAAGCTGTTCGAGCATCTGC	0.403																																						ENST00000360093.3																			1	Substitution - Missense(1)	p.E450K(1)	large_intestine(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(1348-1350)Gaa>Aaa		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						117.0	113.0	114.0					2																	166010994		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166010994C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1348G>A	2.37:g.166010994C>T	ENSP00000353206:p.Glu450Lys					SCN3A_ENST00000409101.3_Missense_Mutation_p.E450K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E450K	p.E450K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			11	1839	-			450					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1348G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.109195	0.77096	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96913	-4.17;-4.17;-4.15;-4.02	5.6	5.6	0.85130	.	0.100000	0.43579	D	0.000547	D	0.95214	0.8448	M	0.66439	2.03	0.80722	D	1	B;B;B;B;B	0.31837	0.342;0.342;0.198;0.198;0.198	B;B;B;B;B	0.23852	0.022;0.022;0.049;0.049;0.049	D	0.94142	0.7398	10	0.72032	D	0.01	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	450;450;450;450;450	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	K	450	ENSP00000353206:E450K;ENSP00000283254:E450K;ENSP00000386726:E450K;ENSP00000403348:E450K	ENSP00000283254:E450K	E	-	1	0	SCN3A	165719240	1.000000	0.71417	0.915000	0.36163	0.980000	0.70556	7.818000	0.86416	2.636000	0.89361	0.591000	0.81541	GAA		0.403	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		5	82	0	0	0	1	0	5	82				
SPATA31D1	389763	broad.mit.edu	37	9	84608365	84608365	+	Missense_Mutation	SNP	G	G	A	rs370117363		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr9:84608365G>A	ENST00000344803.2	+	4	3027	c.2980G>A	c.(2980-2982)Gtc>Atc	p.V994I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	994					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCACCTGTCGTCCAAGAAGG	0.502																																						ENST00000344803.2																			0											c.(2980-2982)Gtc>Atc		SPATA31 subfamily D, member 1		G	ILE/VAL	0,3878		0,0,1939	144.0	146.0	146.0		2980	-1.3	0.0	9		146	1,8279		0,1,4139	no	missense	FAM75D1	NM_001001670.2	29	0,1,6078	AA,AG,GG		0.0121,0.0,0.0082	benign	994/1577	84608365	1,12157	1939	4140	6079	SO:0001583	missense	389763							g.chr9:84608365G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2980G>A	9.37:g.84608365G>A	ENSP00000341988:p.Val994Ile						p.V994I	NM_001001670.2	NP_001001670.1					4	3027	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2980G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	7.888	0.731644	0.15507	0.0	1.21E-4	ENSG00000214929	ENST00000344803	T	0.04917	3.53	2.45	-1.28	0.09318	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.27500	0.08	T	0.43048	-0.9415	9	0.37606	T	0.19	.	2.3029	0.04167	0.3792:0.0:0.3883:0.2325	.	994	Q6ZQQ2	F75D1_HUMAN	I	994	ENSP00000341988:V994I	ENSP00000341988:V994I	V	+	1	0	FAM75D1	83798185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.401000	0.07232	-0.276000	0.09206	-0.233000	0.12211	GTC		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		73	99	0	0	0	1	0	73	99				
NIPBL	25836	broad.mit.edu	37	5	36985023	36985023	+	Missense_Mutation	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:36985023C>T	ENST00000282516.8	+	10	2240	c.1741C>T	c.(1741-1743)Ctt>Ttt	p.L581F	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.L581F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	581					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGTTTCTGTTCTTCAGGAAGA	0.388																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(1741-1743)Ctt>Ttt		Nipped-B homolog (Drosophila)							80.0	81.0	81.0					5																	36985023		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985023C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1741C>T	5.37:g.36985023C>T	ENSP00000282516:p.Leu581Phe					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.L581F	p.L581F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2240	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		581					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1741C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	2.705	-0.270180	0.05716	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93076	-3.16;-3.16	5.77	4.88	0.63580	.	0.332238	0.29846	N	0.011049	D	0.86855	0.6033	N	0.08118	0	0.29901	N	0.824394	B;B	0.16603	0.01;0.018	B;B	0.21917	0.016;0.037	T	0.81395	-0.0952	10	0.54805	T	0.06	.	16.6303	0.85032	0.0:0.8699:0.1301:0.0	.	581;581	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	F	581	ENSP00000282516:L581F;ENSP00000406266:L581F	ENSP00000282516:L581F	L	+	1	0	NIPBL	37020780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.250000	0.32850	1.402000	0.46780	0.650000	0.86243	CTT		0.388	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		8	90	0	0	0	1	0	8	90				
SLC26A4	5172	broad.mit.edu	37	7	107350576	107350576	+	Missense_Mutation	SNP	C	C	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:107350576C>A	ENST00000265715.3	+	19	2391	c.2167C>A	c.(2167-2169)Cat>Aat	p.H723N	SLC26A4_ENST00000541474.1_Missense_Mutation_p.H284N|SLC26A4_ENST00000543100.1_Missense_Mutation_p.H292N|SLC26A4_ENST00000544569.1_Missense_Mutation_p.H310N	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	723	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.		H -> R (in DFNB4 and PDS; common mutation in Korea and Japan; dbSNP:rs121908362). {ECO:0000269|PubMed:10190331, ECO:0000269|PubMed:12676893, ECO:0000269|PubMed:12974744, ECO:0000269|PubMed:14679580, ECO:0000269|PubMed:9618166}.		chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTTGACGGTCCATGATGCTAT	0.368									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46	GRCh37	CM086955	SLC26A4	M		c.(2167-2169)Cat>Aat		solute carrier family 26 (anion exchanger), member 4							124.0	114.0	117.0					7																	107350576		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107350576C>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2167C>A	7.37:g.107350576C>A	ENSP00000265715:p.His723Asn					SLC26A4_ENST00000544569.1_Missense_Mutation_p.H310N|SLC26A4_ENST00000541474.1_Missense_Mutation_p.H284N|SLC26A4_ENST00000543100.1_Missense_Mutation_p.H292N	p.H723N	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			19	2391	+			723		H -> R (in DFNB4 and PDS; common mutation in Korea and Japan).	STAS.		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.2167C>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391907	0.83011	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.51	5.51	0.81932	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	M	0.81614	2.55	0.44890	D	0.997906	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.997;0.998;1.0	D	0.96723	0.9534	10	0.59425	D	0.04	.	19.7828	0.96424	0.0:1.0:0.0:0.0	.	284;310;723	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	N	723;284;310;292	ENSP00000265715:H723N;ENSP00000439743:H284N;ENSP00000437427:H310N;ENSP00000441209:H292N	ENSP00000265715:H723N	H	+	1	0	SLC26A4	107137812	1.000000	0.71417	0.983000	0.44433	0.852000	0.48524	5.266000	0.65525	2.747000	0.94245	0.650000	0.86243	CAT		0.368	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		4	83	1	0	0.00909568	1	0.00909568	4	83				
DENND3	22898	broad.mit.edu	37	8	142178542	142178542	+	Silent	SNP	C	C	T	rs376076551		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr8:142178542C>T	ENST00000262585.2	+	13	2231	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G	DENND3_ENST00000519811.1_Silent_p.G731G|DENND3_ENST00000424248.1_Silent_p.G599G	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	651					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCAGCTGGGCGACTTCATGA	0.587																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(2191-2193)ggC>ggT		DENN/MADD domain containing 3		C		1,4405	2.1+/-5.4	0,1,2202	72.0	68.0	70.0		1953	-11.3	0.1	8		70	0,8600		0,0,4300	no	coding-synonymous	DENND3	NM_014957.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		651/1199	142178542	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142178542C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1953C>T	8.37:g.142178542C>T						DENND3_ENST00000424248.1_Silent_p.G599G|DENND3_ENST00000262585.2_Silent_p.G651G	p.G731G			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		13	2263	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		651					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.2193C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	1.363	-0.588183	0.03799	2.27E-4	0.0	ENSG00000105339	ENST00000518668	.	.	.	5.69	-11.3	0.00108	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.1572	6.0463	0.19762	0.082:0.0859:0.3205:0.5117	.	.	.	.	X	656	.	.	R	+	1	2	DENND3	142247724	0.022000	0.18835	0.083000	0.20561	0.072000	0.16883	-1.141000	0.03207	-2.205000	0.00742	-0.311000	0.09066	CGA		0.587	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		32	51	0	0	0	1	0	32	51				
NIPBL	25836	broad.mit.edu	37	5	36972046	36972046	+	Splice_Site	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:36972046G>A	ENST00000282516.8	+	8	1270		c.e8-1		NIPBL_ENST00000504430.1_Splice_Site|NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTATTTTTAGGATGGAGATT	0.378																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.e8-1		Nipped-B homolog (Drosophila)							49.0	48.0	48.0					5																	36972046		2203	4300	6503	SO:0001630	splice_region_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36972046G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.772-1G>A	5.37:g.36972046G>A						NIPBL_ENST00000504430.1_Splice_Site|NIPBL_ENST00000448238.2_Splice_Site		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		8	1270	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)							Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37		CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396808	0.83120	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9059	0.97007	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37007803	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.116000	0.77119	2.693000	0.91896	0.655000	0.94253	.		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron	9	45	0	0	0	1	0	9	45				
GINM1	116254	broad.mit.edu	37	6	149900982	149900982	+	Missense_Mutation	SNP	G	G	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr6:149900982G>T	ENST00000367419.5	+	5	563	c.442G>T	c.(442-444)Gat>Tat	p.D148Y		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	148						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCAGCAAAAGGATGTCACTGA	0.333																																						ENST00000367419.5																			0											c.(442-444)Gat>Tat		glycoprotein integral membrane 1							46.0	44.0	45.0					6																	149900982		2202	4299	6501	SO:0001583	missense	116254							g.chr6:149900982G>T	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.442G>T	6.37:g.149900982G>T	ENSP00000356389:p.Asp148Tyr						p.D148Y	NM_138785.3	NP_620140.1					5	563	+								B2RDY7|E1P5A2	Missense_Mutation	SNP	ENST00000367419.5	37	c.442G>T	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685729	0.68157	.	.	ENSG00000055211	ENST00000367423;ENST00000367419;ENST00000433539	.	.	.	5.77	3.97	0.46021	.	0.306858	0.34460	N	0.003945	T	0.35740	0.0942	L	0.47716	1.5	0.28395	N	0.918889	D;D	0.63880	0.993;0.993	P;P	0.61592	0.891;0.891	T	0.18023	-1.0350	8	.	.	.	-8.8154	10.2999	0.43646	0.1543:0.0:0.8457:0.0	.	148;148	A8K037;Q9NU53	.;CF072_HUMAN	Y	28;148;22	.	.	D	+	1	0	C6orf72	149942675	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.508000	0.45450	0.773000	0.33404	0.655000	0.94253	GAT		0.333	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		6	27	1	0	3.59834e-05	1	3.85536e-05	6	27				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	27	0	0	0	1	0	3	27				
OBSCN	84033	broad.mit.edu	37	1	228481238	228481238	+	Silent	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:228481238C>T	ENST00000422127.1	+	41	11096	c.11052C>T	c.(11050-11052)cgC>cgT	p.R3684R	OBSCN_ENST00000366709.4_Silent_p.R803R|OBSCN_ENST00000570156.2_Silent_p.R4113R|OBSCN_ENST00000366707.4_Silent_p.R803R|OBSCN_ENST00000284548.11_Silent_p.R3684R|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_Silent_p.R2531R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3684	Ig-like 37.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCAGATCCGCGGCCTCGTGG	0.637																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(12337-12339)cgC>cgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							92.0	99.0	96.0					1																	228481238		2183	4267	6450	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481238C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11052C>T	1.37:g.228481238C>T						OBSCN_ENST00000284548.11_Silent_p.R3684R|OBSCN_ENST00000422127.1_Silent_p.R3684R|OBSCN_ENST00000366709.4_Silent_p.R803R|OBSCN_ENST00000366707.4_Silent_p.R803R|OBSCN_ENST00000359599.6_Silent_p.R2531R	p.R4113R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			46	12413	+		Prostate(94;0.0405)	3155			Ig-like 42.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.12339C>T	CCDS58065.1																																																																																				0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		26	78	0	0	0	1	0	26	78				
GPR133	283383	broad.mit.edu	37	12	131476803	131476803	+	Missense_Mutation	SNP	C	C	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr12:131476803C>A	ENST00000261654.5	+	8	1391	c.832C>A	c.(832-834)Ccc>Acc	p.P278T	GPR133_ENST00000535015.1_Missense_Mutation_p.P310T|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	278					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCCTACCATCCCATCATAAC	0.403																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(832-834)Ccc>Acc		G protein-coupled receptor 133							191.0	207.0	202.0					12																	131476803		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131476803C>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.832C>A	12.37:g.131476803C>A	ENSP00000261654:p.Pro278Thr					RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.P310T	p.P278T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	8	1391	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		278					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.832C>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567223	0.28003	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015;ENST00000537600	T;T	0.57273	0.41;0.41	5.62	4.73	0.59995	.	0.063315	0.64402	D	0.000004	T	0.64768	0.2628	L	0.52011	1.625	0.80722	D	1	P;D	0.89917	0.839;1.0	P;D	0.79784	0.512;0.993	T	0.60581	-0.7235	10	0.33940	T	0.23	.	12.544	0.56188	0.0:0.8537:0.0:0.1463	.	310;278	B7ZLF7;Q6QNK2	.;GP133_HUMAN	T	278;218;310;37	ENSP00000261654:P278T;ENSP00000444425:P310T	ENSP00000261654:P278T	P	+	1	0	GPR133	130042756	0.386000	0.25180	0.390000	0.26220	0.035000	0.12851	2.151000	0.42263	0.751000	0.32900	-0.797000	0.03246	CCC		0.403	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		15	237	1	0	4.14922e-12	1	4.55402e-12	15	237				
OR2W3	343171	broad.mit.edu	37	1	248059036	248059036	+	Missense_Mutation	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:248059036C>T	ENST00000360358.3	+	1	148	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	OR2W3_ENST00000537741.1_Missense_Mutation_p.R50W	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGGTGTCCCGGCTGGACCC	0.587																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(148-150)Cgg>Tgg		olfactory receptor, family 2, subfamily W, member 3							198.0	171.0	180.0					1																	248059036		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059036C>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.148C>T	1.37:g.248059036C>T	ENSP00000353516:p.Arg50Trp					OR2W3_ENST00000360358.3_Missense_Mutation_p.R50W	p.R50W			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	405	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		50					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.148C>T	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	C	3.975	-0.007599	0.07773	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00504	6.94;6.94	5.29	-0.756	0.11057	GPCR, rhodopsin-like superfamily (1);	0.552403	0.16279	N	0.221436	T	0.00356	0.0011	L	0.38953	1.18	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.41197	-0.9522	10	0.38643	T	0.18	.	5.8303	0.18577	0.4562:0.3972:0.0:0.1466	.	50	Q7Z3T1	OR2W3_HUMAN	W	50	ENSP00000445853:R50W;ENSP00000353516:R50W	ENSP00000353516:R50W	R	+	1	2	OR2W3	246125659	0.000000	0.05858	0.011000	0.14972	0.048000	0.14542	-4.050000	0.00305	0.000000	0.14550	0.609000	0.83330	CGG		0.587	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		18	128	0	0	0	1	0	18	128				
LAMA4	3910	broad.mit.edu	37	6	112496653	112496653	+	Missense_Mutation	SNP	C	C	T			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr6:112496653C>T	ENST00000230538.7	-	11	1616	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	LAMA4_ENST00000522006.1_Missense_Mutation_p.E400K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E400K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E400K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	407	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATGCTCTTCCCCATAATAG	0.468																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1219-1221)Gaa>Aaa		laminin, alpha 4							136.0	137.0	137.0					6																	112496653		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112496653C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1219G>A	6.37:g.112496653C>T	ENSP00000230538:p.Glu407Lys					LAMA4_ENST00000389463.4_Missense_Mutation_p.E400K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E400K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E400K	p.E407K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	11	1616	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	407			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1219G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	7.055	0.565197	0.13498	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	5.71	2.0	0.26442	Laminin I (1);	0.489617	0.22041	N	0.065449	T	0.01905	0.0060	L	0.36672	1.1	0.09310	N	0.999994	B;B	0.32968	0.285;0.392	B;B	0.33846	0.171;0.142	T	0.47341	-0.9125	10	0.15952	T	0.53	.	8.431	0.32757	0.0:0.6202:0.0:0.3798	.	407;400	Q16363;Q16363-2	LAMA4_HUMAN;.	K	407;400;400;400	ENSP00000230538:E407K;ENSP00000429488:E400K;ENSP00000374114:E400K;ENSP00000416470:E400K	ENSP00000230538:E407K	E	-	1	0	LAMA4	112603346	0.103000	0.21917	0.108000	0.21378	0.743000	0.42351	0.616000	0.24344	0.366000	0.24427	0.655000	0.94253	GAA		0.468	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		77	102	0	0	0	1	0	77	102				
SNX6	58533	broad.mit.edu	37	14	35074873	35074873	+	Silent	SNP	T	T	C			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr14:35074873T>C	ENST00000362031.4	-	5	387	c.357A>G	c.(355-357)ctA>ctG	p.L119L	SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396526.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	107	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CAAGCTTCTGTAGTTTTTCCC	0.363																																						ENST00000362031.4																			0				endometrium(4)|lung(1)|ovary(1)	6						c.(355-357)ctA>ctG		sorting nexin 6							94.0	85.0	88.0					14																	35074873		2203	4300	6503	SO:0001819	synonymous_variant	58533				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity	g.chr14:35074873T>C	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.357A>G	14.37:g.35074873T>C						SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR	p.L119L	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)	5	387	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		107			PX.		C0H5W9|Q9Y449	Silent	SNP	ENST00000362031.4	37	c.357A>G	CCDS41942.1																																																																																				0.363	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3			6	56	0	0	0	1	0	6	56				
ALDH1L1	10840	broad.mit.edu	37	3	125831672	125831672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr3:125831672G>A	ENST00000393434.2	-	19	2483	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.R611*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.R722*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.R712*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	712	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACAAAGAGTCGGCCTGCTGCA	0.557																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2134-2136)Cga>Tga		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						131.0	123.0	126.0					3																	125831672		2203	4300	6503	SO:0001587	stop_gained	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125831672G>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2134C>T	3.37:g.125831672G>A	ENSP00000377083:p.Arg712*					ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.R611*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.R722*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.R712*	p.R712*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	19	2483	-			712			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Nonsense_Mutation	SNP	ENST00000393434.2	37	c.2134C>T	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	42	9.643042	0.99227	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	.	.	.	4.51	4.51	0.55191	.	0.063153	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8845	0.41253	0.0:0.0:0.7962:0.2038	.	.	.	.	X	722;712;611;712	.	ENSP00000273450:R722X	R	-	1	2	ALDH1L1	127314362	0.999000	0.42202	0.995000	0.50966	0.852000	0.48524	1.904000	0.39868	2.331000	0.79229	0.467000	0.42956	CGA		0.557	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		9	78	0	0	0	1	0	9	78				
ZDBF2	57683	broad.mit.edu	37	2	207171695	207171695	+	Missense_Mutation	SNP	G	G	A			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:207171695G>A	ENST00000374423.3	+	5	2829	c.2443G>A	c.(2443-2445)Gtt>Att	p.V815I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	815							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGAAGAAACTGTTGATCTGGA	0.348																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2443-2445)Gtt>Att		zinc finger, DBF-type containing 2							68.0	69.0	69.0					2																	207171695		1848	4098	5946	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171695G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2443G>A	2.37:g.207171695G>A	ENSP00000363545:p.Val815Ile						p.V815I	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	2829	+			815					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2443G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	9.345	1.064049	0.20067	.	.	ENSG00000204186	ENST00000374423	T	0.51325	0.71	4.5	-2.07	0.07276	.	0.489450	0.15305	N	0.269408	T	0.17831	0.0428	N	0.04880	-0.145	0.09310	N	1	B	0.21452	0.056	B	0.15870	0.014	T	0.14699	-1.0463	10	0.19590	T	0.45	.	3.4847	0.07615	0.2669:0.0:0.4318:0.3013	.	815	Q9HCK1	ZDBF2_HUMAN	I	815	ENSP00000363545:V815I	ENSP00000363545:V815I	V	+	1	0	ZDBF2	206879940	0.001000	0.12720	0.000000	0.03702	0.724000	0.41520	-0.611000	0.05622	-0.358000	0.08162	0.655000	0.94253	GTT		0.348	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		5	55	0	0	0	1	0	5	55				
UTP15	84135	broad.mit.edu	37	5	72866466	72866466	+	Silent	SNP	C	C	G			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:72866466C>G	ENST00000296792.4	+	6	858	c.603C>G	c.(601-603)ctC>ctG	p.L201L	UTP15_ENST00000508491.1_Silent_p.L182L|UTP15_ENST00000543251.1_Silent_p.L11L	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	201					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AGAGTGTTCTCTCCGTTGAGC	0.398																																						ENST00000296792.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(601-603)ctC>ctG		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)							161.0	149.0	153.0					5																	72866466		2203	4300	6503	SO:0001819	synonymous_variant	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72866466C>G	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.603C>G	5.37:g.72866466C>G						UTP15_ENST00000543251.1_Silent_p.L11L|UTP15_ENST00000508491.1_Silent_p.L182L	p.L201L	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	6	858	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	201					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Silent	SNP	ENST00000296792.4	37	c.603C>G	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	C	6.641	0.486675	0.12641	.	.	ENSG00000164338	ENST00000509005	.	.	.	5.85	2.03	0.26663	.	.	.	.	.	T	0.54127	0.1839	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43909	-0.9362	4	.	.	.	.	6.3821	0.21540	0.0:0.4278:0.3072:0.265	.	.	.	.	C	228	.	.	S	+	2	0	UTP15	72902222	1.000000	0.71417	0.989000	0.46669	0.653000	0.38743	1.360000	0.34125	0.406000	0.25560	-0.136000	0.14681	TCT		0.398	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		11	102	0	0	0	1	0	11	102				
DBI	1622	broad.mit.edu	37	2	120128319	120128319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:120128319delG	ENST00000355857.3	+	3	262	c.131delG	c.(130-132)cggfs	p.R44fs	DBI_ENST00000409094.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000311521.4_Frame_Shift_Del_p.R61fs|DBI_ENST00000542275.1_Frame_Shift_Del_p.R105fs|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000535617.1_Frame_Shift_Del_p.R86fs|DBI_ENST00000393103.2_Frame_Shift_Del_p.R45fs|DBI_ENST00000535757.1_Frame_Shift_Del_p.R61fs	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	44	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						GTTTAAGAACGGCCCGGGATG	0.428																																						ENST00000542275.1																			0				kidney(1)|lung(4)|skin(1)	6						c.(313-315)cgfs		diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)							68.0	64.0	65.0					2																	120128319		2203	4300	6503	SO:0001589	frameshift_variant	1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120128319delG	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.131delG	2.37:g.120128319delG	ENSP00000348116:p.Arg44fs					DBI_ENST00000535617.1_Frame_Shift_Del_p.R86fs|DBI_ENST00000535757.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000393103.2_Frame_Shift_Del_p.R45fs|DBI_ENST00000409094.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000355857.3_Frame_Shift_Del_p.R44fs|DBI_ENST00000311521.4_Frame_Shift_Del_p.R61fs	p.R105fs	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN			3	398	+			44					B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Frame_Shift_Del	DEL	ENST00000355857.3	37	c.314delG	CCDS42740.1																																																																																				0.428	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548		13	31						13	31	---	---	---	---
CC2D2A	57545	broad.mit.edu	37	4	15513005	15513007	+	In_Frame_Del	DEL	GAA	GAA	-	rs112367037|rs386833764	byFrequency	TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr4:15513005_15513007delGAA	ENST00000503292.1	+	9	856_858	c.676_678delGAA	c.(676-678)gaadel	p.E229del	CC2D2A_ENST00000424120.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000389652.5_In_Frame_Del_p.E180del|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_In_Frame_Del_p.E229del	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	229	Poly-Glu.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGAGGAAGGGGAAGAAGAAGAAC	0.443														217	0.0433307	0.003	0.0778	5008	,	,		21113	0.0		0.0815	False		,,,				2504	0.0787					ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(676-678)del		coiled-coil and C2 domain containing 2A				59,3675		1,57,1809						-3.4	0.0		dbSNP_132	103	580,7314		24,532,3391	no	coding	CC2D2A	NM_001080522.2		25,589,5200	A1A1,A1R,RR		7.3474,1.5801,5.4954				639,10989				SO:0001651	inframe_deletion	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15513005_15513007delGAA	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.676_678delGAA	4.37:g.15513014_15513016delGAA	ENSP00000421809:p.Glu229del					CC2D2A_ENST00000413206.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000389652.5_In_Frame_Del_p.E180del|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_In_Frame_Del_p.E229del	p.E229del			Q9P2K1	C2D2A_HUMAN			8	930_932	+			229			Poly-Glu.		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	In_Frame_Del	DEL	ENST00000503292.1	37	c.676_678delGAA	CCDS47026.1																																																																																				0.443	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		8	13						8	13	---	---	---	---
CPEB4	80315	broad.mit.edu	37	5	173380262	173380265	+	Frame_Shift_Del	DEL	AGAT	AGAT	-			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:173380262_173380265delAGAT	ENST00000265085.5	+	9	3403_3406	c.1949_1952delAGAT	c.(1948-1953)gagatafs	p.EI650fs	CPEB4_ENST00000522336.1_Frame_Shift_Del_p.EI260fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.EI633fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.EI625fs|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.EI625fs|CPEB4_ENST00000517880.1_Frame_Shift_Del_p.EI243fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	650	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCATGGAGAGATAGATAAACGG	0.402																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1948-1953)gafs		cytoplasmic polyadenylation element binding protein 4																																				SO:0001589	frameshift_variant	80315						nucleotide binding|RNA binding	g.chr5:173380262_173380265delAGAT	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1949_1952delAGAT	5.37:g.173380266_173380269delAGAT	ENSP00000265085:p.Glu650fs					CPEB4_ENST00000520867.1_Frame_Shift_Del_p.EI625fs|CPEB4_ENST00000522336.1_Frame_Shift_Del_p.EI260fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.EI633fs|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000517880.1_Frame_Shift_Del_p.EI243fs|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.EI625fs	p.EI650fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		9	3403_3406	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	650			RRM 2.		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Frame_Shift_Del	DEL	ENST00000265085.5	37	c.1949_1952delAGAT	CCDS4390.1																																																																																				0.402	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		20	83						20	83	---	---	---	---
SLC39A7	7922	broad.mit.edu	37	6	33169301	33169301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr6:33169301delC	ENST00000374677.3	+	1	652	c.279delC	c.(277-279)agcfs	p.S93fs	RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374685.4_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.S93fs|RXRB_ENST00000374680.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	93	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATGGCCATAGCCATGGCTACT	0.552																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(277-279)agfs		solute carrier family 39 (zinc transporter), member 7							101.0	101.0	101.0					6																	33169301		2051	4206	6257	SO:0001589	frameshift_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169301delC	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.279delC	6.37:g.33169301delC	ENSP00000363809:p.Ser93fs					SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.S93fs	p.S93fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			1	652	+			93			His-rich.		B0UXF6|Q5STP8|Q9UIQ0	Frame_Shift_Del	DEL	ENST00000374677.3	37	c.279delC	CCDS43453.1																																																																																				0.552	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		35	44						35	44	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		6	3						6	3	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			3	4						3	4	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	lincRNA	INS	-	-	T	rs35369169|rs111867069|rs11408280	byFrequency	TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						ggaccgggaaacagatgcttac	0.569													T|-|T|deletion	1366	0.272764	0.4244	0.1657	5008	,	,		18567	0.127		0.2455	False		,,,				2504	0.3221					ENST00000432910.1																			0																																																			0							g.chr20:58883399_58883400insT																													20.37:g.58883399_58883400insT								NR_046099.1						0	332	+									RNA	INS	ENST00000432910.1	37																																																																																						0.569	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			3	6						3	6	---	---	---	---
