#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
SLC34A3	142680	broad.mit.edu	37	9	140130637	140130637	+	Silent	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:140130637G>T	ENST00000538474.1	+	13	1793	c.1569G>T	c.(1567-1569)ggG>ggT	p.G523G	SLC34A3_ENST00000361134.2_Silent_p.G523G	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	523					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCCTGGTGGGGCTGGTGCTCC	0.726											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1567-1569)ggG>ggT		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							16.0	13.0	14.0					9																	140130637		2136	4213	6349	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130637G>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1569G>T	9.37:g.140130637G>T			OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_ENST00000361134.2_Silent_p.G523G	p.G523G	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1793	+	all_cancers(76;0.0926)		523					A2BFA1	Silent	SNP	ENST00000538474.1	37	c.1569G>T	CCDS7038.1																																																																																				0.726	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		4	76	1	0	1	1	1	4	76				
GIPC3	126326	broad.mit.edu	37	19	3590165	3590165	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:3590165G>A	ENST00000322315.5	+	6	961	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	306										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCATCGGCGAGGCCAGAGA	0.692																																						ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(916-918)Gag>Aag		GIPC PDZ domain containing family, member 3							22.0	28.0	26.0					19																	3590165		2201	4299	6500	SO:0001583	missense	126326							g.chr19:3590165G>A	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.916G>A	19.37:g.3590165G>A	ENSP00000319254:p.Glu306Lys						p.E306K	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	6	961	+			306					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.916G>A	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221360	0.58560	.	.	ENSG00000179855	ENST00000322315	D	0.81821	-1.54	4.28	3.24	0.37175	.	0.230912	0.34484	N	0.003933	T	0.61173	0.2326	N	0.05441	-0.05	0.47778	D	0.999517	B	0.17667	0.023	B	0.06405	0.002	T	0.62469	-0.6848	10	0.87932	D	0	-20.0055	9.1236	0.36801	0.1092:0.0:0.8908:0.0	.	306	Q8TF64	GIPC3_HUMAN	K	306	ENSP00000319254:E306K	ENSP00000319254:E306K	E	+	1	0	GIPC3	3541165	1.000000	0.71417	0.992000	0.48379	0.789000	0.44602	4.838000	0.62803	1.948000	0.56530	0.491000	0.48974	GAG		0.692	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		3	42	0	0	0	1	0	3	42				
MINPP1	9562	broad.mit.edu	37	10	89264991	89264991	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:89264991G>T	ENST00000371996.4	+	1	360	c.319G>T	c.(319-321)Ggg>Tgg	p.G107W	MINPP1_ENST00000536010.1_5'Flank|MINPP1_ENST00000371994.4_Missense_Mutation_p.G107W	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	107					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GCAGCTGCACGGGTTGCTGCA	0.697											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(319-321)Ggg>Tgg		multiple inositol-polyphosphate phosphatase 1							16.0	21.0	19.0					10																	89264991		2200	4298	6498	SO:0001583	missense	0				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89264991G>T	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.319G>T	10.37:g.89264991G>T	ENSP00000361064:p.Gly107Trp		OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1266	MINPP1_ENST00000371994.4_Missense_Mutation_p.G107W	p.G107W	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	1	360	+		Colorectal(252;0.122)	107					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	c.319G>T	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904304	0.72868	.	.	ENSG00000107789	ENST00000371996;ENST00000371994	T;T	0.76316	-1.01;-1.01	4.92	4.92	0.64577	.	0.121094	0.64402	D	0.000010	D	0.85444	0.5698	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.95	D	0.86863	0.2031	10	0.72032	D	0.01	-8.0416	15.9697	0.80004	0.0:0.0:1.0:0.0	.	107;107	Q9UNW1-2;Q9UNW1	.;MINP1_HUMAN	W	107	ENSP00000361064:G107W;ENSP00000361062:G107W	ENSP00000361062:G107W	G	+	1	0	MINPP1	89254971	0.387000	0.25188	1.000000	0.80357	0.791000	0.44710	0.766000	0.26560	2.423000	0.82170	0.563000	0.77884	GGG		0.697	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			4	71	1	0	0.00909568	1	0.0101999	4	71				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	121	0	0	0	1	0	6	121				
CDH2	1000	broad.mit.edu	37	18	25570188	25570188	+	Missense_Mutation	SNP	C	C	T	rs201148355		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:25570188C>T	ENST00000269141.3	-	10	1894	c.1471G>A	c.(1471-1473)Gta>Ata	p.V491I	CDH2_ENST00000399380.3_Missense_Mutation_p.V460I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	491	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.V491I(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTTCATTTACGTCAATAACT	0.468																																						ENST00000269141.3																			1	Substitution - Missense(1)	p.V491I(1)	cervix(1)	NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1471-1473)Gta>Ata		cadherin 2, type 1, N-cadherin (neuronal)		C	ILE/VAL	0,4406		0,0,2203	133.0	123.0	127.0		1471	6.2	1.0	18		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH2	NM_001792.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	491/907	25570188	1,13005	2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25570188C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1471G>A	18.37:g.25570188C>T	ENSP00000269141:p.Val491Ile					CDH2_ENST00000399380.3_Missense_Mutation_p.V460I	p.V491I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			10	1894	-			491			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1471G>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871347	0.72065	0.0	1.16E-4	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.62232	0.04;0.04	6.16	6.16	0.99307	Cadherin (3);Cadherin-like (1);	0.056760	0.64402	D	0.000001	T	0.61476	0.2350	L	0.49699	1.58	0.80722	D	1	B;B	0.17268	0.021;0.007	B;B	0.08055	0.003;0.001	T	0.53961	-0.8364	10	0.49607	T	0.09	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	460;491	A8MWK3;P19022	.;CADH2_HUMAN	I	491;460	ENSP00000269141:V491I;ENSP00000382312:V460I	ENSP00000269141:V491I	V	-	1	0	CDH2	23824186	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GTA		0.468	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		147	175	0	0	0	1	0	147	175				
CHD7	55636	broad.mit.edu	37	8	61654852	61654852	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:61654852G>A	ENST00000423902.2	+	2	1340	c.861G>A	c.(859-861)ccG>ccA	p.P287P	CHD7_ENST00000524602.1_Silent_p.P287P|CHD7_ENST00000525508.1_Silent_p.P287P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	287					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P287P(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTGTTAGGCCGCAAACCCTTA	0.512																																						ENST00000423902.2																			2	Substitution - coding silent(2)	p.P287P(2)	lung(2)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(859-861)ccG>ccA		chromodomain helicase DNA binding protein 7							96.0	96.0	96.0					8																	61654852		1909	4121	6030	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654852G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.861G>A	8.37:g.61654852G>A						CHD7_ENST00000524602.1_Silent_p.P287P|CHD7_ENST00000525508.1_Silent_p.P287P	p.P287P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1340	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	287					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.861G>A	CCDS47865.1																																																																																				0.512	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	625	0	0	0	1	0	6	625				
GPSM1	26086	broad.mit.edu	37	9	139228944	139228944	+	Missense_Mutation	SNP	C	C	T	rs140085951		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:139228944C>T	ENST00000440944.1	+	2	329	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	GPSM1_ENST00000392945.3_Missense_Mutation_p.R37C	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	37	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGAGGGCGAGCGTCTGTGCAA	0.652																																						ENST00000440944.1																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(109-111)Cgt>Tgt		G-protein signaling modulator 1							55.0	52.0	53.0					9																	139228944		2202	4299	6501	SO:0001583	missense	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139228944C>T	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.109C>T	9.37:g.139228944C>T	ENSP00000392828:p.Arg37Cys					GPSM1_ENST00000392945.3_Missense_Mutation_p.R37C	p.R37C	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	2	329	+		Myeloproliferative disorder(178;0.0821)	37			Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	c.109C>T	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	c	19.82	3.899125	0.72754	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;T	0.75477	-0.94;-0.94;-0.0	4.66	3.65	0.41850	.	0.000000	0.64402	U	0.000001	D	0.84397	0.5463	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86778	0.1977	10	0.87932	D	0	-12.3547	14.5162	0.67821	0.1569:0.8431:0.0:0.0	.	37;37	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	C	37;37;14	ENSP00000376674:R37C;ENSP00000392828:R37C;ENSP00000346797:R14C	ENSP00000346797:R14C	R	+	1	0	GPSM1	138348765	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	1.805000	0.38883	2.113000	0.64589	0.556000	0.70494	CGT		0.652	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		24	99	0	0	0	1	0	24	99				
EXOSC9	5393	broad.mit.edu	37	4	122728764	122728764	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:122728764T>C	ENST00000243498.5	+	6	700	c.592T>C	c.(592-594)Ttt>Ctt	p.F198L	EXOSC9_ENST00000512454.1_Missense_Mutation_p.F182L|EXOSC9_ENST00000379663.3_Missense_Mutation_p.F198L|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	198	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CAGTTTTGCCTTTTTCCAGCA	0.358																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(544-546)Ttt>Ctt		exosome component 9							203.0	179.0	187.0					4																	122728764		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122728764T>C	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.592T>C	4.37:g.122728764T>C	ENSP00000243498:p.Phe198Leu					EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Missense_Mutation_p.F198L|EXOSC9_ENST00000379663.3_Missense_Mutation_p.F198L	p.F182L			Q06265	EXOS9_HUMAN			5	760	+			198			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.544T>C	CCDS3722.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.169827|4.169827	0.78452|0.78452	.|.	.|.	ENSG00000123737|ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454|ENST00000511132	T;T;T;T|.	0.38722|.	1.12;1.12;1.12;1.12|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Exoribonuclease, phosphorolytic domain 2 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71550|0.71550	0.3353|0.3353	L|L	0.60957|0.60957	1.885|1.885	0.80722|0.80722	D|D	1|1	D;D;B|.	0.76494|.	0.999;0.964;0.033|.	D;P;B|.	0.69142|.	0.962;0.736;0.048|.	T|T	0.69745|0.69745	-0.5062|-0.5062	10|5	0.40728|.	T|.	0.16|.	-20.182|-20.182	16.4781|16.4781	0.84144|0.84144	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	182;198;198|.	D6RIY6;Q06265;Q06265-2|.	.;EXOS9_HUMAN;.|.	L|P	198;198;152;182|33	ENSP00000243498:F198L;ENSP00000368984:F198L;ENSP00000422205:F152L;ENSP00000425782:F182L|.	ENSP00000243498:F198L|.	F|L	+|+	1|2	0|0	EXOSC9|EXOSC9	122948214|122948214	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.988000|0.988000	0.76386|0.76386	7.730000|7.730000	0.84881|0.84881	2.288000|2.288000	0.76882|0.76882	0.528000|0.528000	0.53228|0.53228	TTT|CTT		0.358	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		5	418	0	0	0	1	0	5	418				
AFF3	3899	broad.mit.edu	37	2	100210017	100210017	+	Silent	SNP	G	G	A	rs377006919		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:100210017G>A	ENST00000409236.2	-	13	2218	c.2106C>T	c.(2104-2106)tcC>tcT	p.S702S	AFF3_ENST00000317233.4_Silent_p.S702S|AFF3_ENST00000409579.1_Silent_p.S727S|AFF3_ENST00000356421.2_Silent_p.S727S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	702					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATCATTCCCGGAGGAGGCAG	0.627																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2104-2106)tcC>tcT		AF4/FMR2 family, member 3							54.0	59.0	57.0					2																	100210017		2203	4295	6498	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210017G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2106C>T	2.37:g.100210017G>A						AFF3_ENST00000356421.2_Silent_p.S727S|AFF3_ENST00000409579.1_Silent_p.S727S|AFF3_ENST00000409236.1_Silent_p.S702S	p.S702S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2341	-			702					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2106C>T	CCDS42723.1																																																																																				0.627	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		6	612	0	0	0	1	0	6	612				
ASTN1	460	broad.mit.edu	37	1	176833536	176833536	+	Missense_Mutation	SNP	C	C	T	rs538221544		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:176833536C>T	ENST00000367654.3	-	23	4004	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E1257K|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1265					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTTGATCTCGCTGTAGCGG	0.587																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3793-3795)Gag>Aag		astrotactin 1							92.0	90.0	91.0					1																	176833536		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176833536C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3793G>A	1.37:g.176833536C>T	ENSP00000356626:p.Glu1265Lys					ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Missense_Mutation_p.E1257K	p.E1265K			O14525	ASTN1_HUMAN			23	3806	-			1265					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3793G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.600256	0.87055	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.14022	2.55;2.54	4.61	4.61	0.57282	.	0.047461	0.85682	D	0.000000	T	0.09774	0.0240	L	0.27053	0.805	0.80722	D	1	P	0.50710	0.938	B	0.33454	0.164	T	0.12218	-1.0556	10	0.87932	D	0	-23.1216	17.4153	0.87498	0.0:1.0:0.0:0.0	.	1257	O14525-2	.	K	1257;1265	ENSP00000354536:E1257K;ENSP00000356626:E1265K	ENSP00000354536:E1257K	E	-	1	0	ASTN1	175100159	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.018000	0.76406	2.282000	0.76494	0.555000	0.69702	GAG		0.587	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		92	592	0	0	0	1	0	92	592				
SMC1B	27127	broad.mit.edu	37	22	45782784	45782784	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:45782784G>T	ENST00000357450.4	-	11	1873	c.1874C>A	c.(1873-1875)gCa>gAa	p.A625E	SMC1B_ENST00000404354.3_Missense_Mutation_p.A625E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	625	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATATGCCTTGCTTCTTCCAT	0.383																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1873-1875)gCa>gAa		structural maintenance of chromosomes 1B							180.0	164.0	169.0					22																	45782784		1902	4134	6036	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45782784G>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1874C>A	22.37:g.45782784G>T	ENSP00000350036:p.Ala625Glu					SMC1B_ENST00000404354.3_Missense_Mutation_p.A625E	p.A625E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	11	1873	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	625			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1874C>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013442	0.93346	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.95885	-3.84;-3.84	5.32	5.32	0.75619	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.53938	D	0.000052	D	0.98538	0.9512	H	0.95224	3.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99647	1.0990	10	0.87932	D	0	.	18.9977	0.92819	0.0:0.0:1.0:0.0	.	625;625;625	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	E	625	ENSP00000350036:A625E;ENSP00000385902:A625E	ENSP00000350036:A625E	A	-	2	0	SMC1B	44161448	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.527000	0.98044	2.466000	0.83321	0.591000	0.81541	GCA		0.383	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		5	604	1	0	0.217242	1	0.233187	5	604				
SIPA1L3	23094	broad.mit.edu	37	19	38572845	38572845	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:38572845C>T	ENST00000222345.6	+	3	1149	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	214					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCAGGGCATGCCCGAGCAGAG	0.726																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(640-642)Ccc>Tcc		signal-induced proliferation-associated 1 like 3							38.0	35.0	36.0					19																	38572845		2159	4222	6381	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572845C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.640C>T	19.37:g.38572845C>T	ENSP00000222345:p.Pro214Ser						p.P214S	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1149	+			214					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.640C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.283290	0.01398	.	.	ENSG00000105738	ENST00000222345	T	0.71698	-0.59	5.48	4.4	0.53042	.	0.195946	0.46145	D	0.000316	T	0.27900	0.0687	N	0.00595	-1.35	0.39352	D	0.965771	B	0.09022	0.002	B	0.06405	0.002	T	0.49103	-0.8974	10	0.02654	T	1	-23.5056	4.3068	0.10951	0.0:0.6962:0.0:0.3038	.	214	O60292	SI1L3_HUMAN	S	214	ENSP00000222345:P214S	ENSP00000222345:P214S	P	+	1	0	SIPA1L3	43264685	0.156000	0.22821	0.880000	0.34516	0.198000	0.23893	0.711000	0.25764	2.584000	0.87258	0.563000	0.77884	CCC		0.726	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		5	367	0	0	0	1	0	5	367				
USP37	57695	broad.mit.edu	37	2	219330731	219330731	+	Splice_Site	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:219330731A>T	ENST00000258399.3	-	21	2879		c.e21+1		USP37_ENST00000454775.1_Splice_Site|USP37_ENST00000415516.1_Splice_Site|USP37_ENST00000418019.1_Splice_Site	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AATATCTCTTACTTGCTCTTG	0.403																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.e21+1		ubiquitin specific peptidase 37							143.0	138.0	139.0					2																	219330731		2203	4300	6503	SO:0001630	splice_region_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219330731A>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2466+1T>A	2.37:g.219330731A>T						USP37_ENST00000418019.1_Splice_Site|USP37_ENST00000454775.1_Splice_Site|USP37_ENST00000415516.1_Splice_Site		NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	21	2879	-		Renal(207;0.0915)						A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Splice_Site	SNP	ENST00000258399.3	37		CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156181	0.78114	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.284	0.73814	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP37	219038975	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	8.242000	0.89818	2.201000	0.70794	0.533000	0.62120	.		0.403	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935	Intron	6	736	0	0	0	1	0	6	736				
MYO5A	4644	broad.mit.edu	37	15	52664502	52664502	+	Missense_Mutation	SNP	C	C	T	rs569010771		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:52664502C>T	ENST00000399231.3	-	21	2879	c.2636G>A	c.(2635-2637)cGc>cAc	p.R879H	MYO5A_ENST00000399233.2_Missense_Mutation_p.R879H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R879H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R879H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R879H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	879	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTAGTGTGTGCGGGCCAGCCA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17551	0.0		0.0	False		,,,				2504	0.001					ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2635-2637)cGc>cAc		myosin VA (heavy chain 12, myoxin)							47.0	46.0	46.0					15																	52664502		2038	4184	6222	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52664502C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2636G>A	15.37:g.52664502C>T	ENSP00000382177:p.Arg879His					MYO5A_ENST00000356338.6_Missense_Mutation_p.R879H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R879H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R879H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R879H	p.R879H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	21	2879	-			879			IQ 5.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2636G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718673	0.89205	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.77	3.9	0.45041	.	0.115727	0.64402	D	0.000012	T	0.79587	0.4471	M	0.83953	2.67	0.80722	D	1	P;D	0.89917	0.458;1.0	B;D	0.87578	0.422;0.998	T	0.82139	-0.0605	10	0.72032	D	0.01	.	13.4716	0.61285	0.0:0.8865:0.0:0.1135	.	879;879	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	879;413;879;879;879;509;879	ENSP00000382177:R879H;ENSP00000382179:R879H;ENSP00000348693:R879H;ENSP00000350945:R879H;ENSP00000451109:R879H	ENSP00000348693:R879H	R	-	2	0	MYO5A	50451794	0.993000	0.37304	0.163000	0.22734	0.996000	0.88848	3.079000	0.50104	0.903000	0.36546	0.650000	0.86243	CGC		0.532	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		5	317	0	0	0	1	0	5	317				
FARSA	2193	broad.mit.edu	37	19	13039467	13039467	+	Missense_Mutation	SNP	G	G	A	rs376853642		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:13039467G>A	ENST00000314606.4	-	6	625	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Missense_Mutation_p.R172W|FARSA_ENST00000588025.1_Missense_Mutation_p.R243W	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	203					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.R203W(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GGCCGGTCCCGCCAAGAGCCA	0.687													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13338	0.0		0.0	False		,,,				2504	0.0					ENST00000588025.1																			1	Substitution - Missense(1)	p.R203W(1)	lung(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(727-729)Cgg>Tgg		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						21.0	21.0	21.0					19																	13039467		2202	4300	6502	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13039467G>A	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.607C>T	19.37:g.13039467G>A	ENSP00000320309:p.Arg203Trp					FARSA_ENST00000423140.2_Missense_Mutation_p.R172W|FARSA_ENST00000314606.4_Missense_Mutation_p.R203W	p.R243W			Q9Y285	SYFA_HUMAN			7	867	-			203					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.727C>T	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739630	0.69304	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.65178	-0.14;0.46	4.94	1.37	0.22104	.	0.056564	0.64402	D	0.000003	T	0.75788	0.3897	M	0.81497	2.545	0.53005	D	0.999962	D;D;D	0.76494	0.998;0.999;0.999	P;P;P	0.62813	0.907;0.747;0.747	T	0.78409	-0.2215	10	0.87932	D	0	-19.5466	13.071	0.59061	0.0:0.0:0.3108:0.6892	.	172;203;203	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	W	203;172	ENSP00000320309:R203W;ENSP00000396548:R172W	ENSP00000320309:R203W	R	-	1	2	FARSA	12900467	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.783000	0.38664	0.189000	0.20188	0.563000	0.77884	CGG		0.687	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		4	93	0	0	0	1	0	4	93				
TNR	7143	broad.mit.edu	37	1	175331844	175331844	+	Missense_Mutation	SNP	G	G	A	rs150401432		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:175331844G>A	ENST00000367674.2	-	14	3517	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	TNR_ENST00000263525.2_Missense_Mutation_p.R937W			Q92752	TENR_HUMAN	tenascin R	937	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R937W(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCCTGCCCCGCACGCTGTTG	0.552																																						ENST00000367674.1																			1	Substitution - Missense(1)	p.R937W(1)	lung(1)	NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(2809-2811)Cgg>Tgg		tenascin R							205.0	169.0	182.0					1																	175331844		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175331844G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2809C>T	1.37:g.175331844G>A	ENSP00000356646:p.Arg937Trp					TNR_ENST00000263525.2_Missense_Mutation_p.R937W	p.R937W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			14	3517	-	Renal(580;0.146)		937			Fibronectin type-III 7.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2809C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020752	0.75275	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.54279	0.58;0.58	5.59	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	M	0.67953	2.075	0.54753	D	0.99998	D	0.89917	1.0	D	0.79108	0.992	T	0.71441	-0.4592	10	0.52906	T	0.07	.	13.8976	0.63783	0.0:0.0:0.8474:0.1526	.	937	Q92752	TENR_HUMAN	W	937;937;847	ENSP00000356646:R937W;ENSP00000263525:R937W	ENSP00000263525:R937W	R	-	1	2	TNR	173598467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.732000	0.38146	1.340000	0.45581	0.650000	0.86243	CGG		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		6	567	0	0	0	1	0	6	567				
KRT14	3861	broad.mit.edu	37	17	39740094	39740094	+	Missense_Mutation	SNP	C	C	T	rs375620492		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:39740094C>T	ENST00000167586.6	-	4	931	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	282	Linker 12.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTTCAGAATGCGGCTCAGGTC	0.562																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(844-846)cGc>cAc		keratin 14		C	HIS/ARG	0,4406		0,0,2203	183.0	153.0	163.0		845	3.0	1.0	17		163	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT14	NM_000526.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	282/473	39740094	1,13005	2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740094C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.845G>A	17.37:g.39740094C>T	ENSP00000167586:p.Arg282His						p.R282H	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			4	931	-		Breast(137;0.000307)	282			Linker 12.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.845G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195700	0.58126	0.0	1.16E-4	ENSG00000186847	ENST00000167586	T	0.77750	-1.12	5.04	3.04	0.35103	Prefoldin (1);Filament (1);	0.000000	0.49916	D	0.000135	D	0.83649	0.5300	M	0.74546	2.27	0.29322	N	0.867318	D	0.76494	0.999	D	0.73708	0.981	T	0.76589	-0.2904	10	0.62326	D	0.03	.	4.864	0.13598	0.156:0.612:0.0:0.2321	.	282	P02533	K1C14_HUMAN	H	282	ENSP00000167586:R282H	ENSP00000167586:R282H	R	-	2	0	KRT14	36993620	0.000000	0.05858	0.997000	0.53966	0.504000	0.33889	0.450000	0.21762	1.258000	0.44101	-0.119000	0.15052	CGC		0.562	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		6	1119	0	0	0	1	0	6	1119				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.A353P(1)	lung(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1057-1059)Gca>Cca		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P	p.A353P			Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	613	0	0	0	1	0	5	613				
C17orf53	78995	broad.mit.edu	37	17	42225981	42225981	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:42225981G>A	ENST00000319977.4	+	3	1047	c.810G>A	c.(808-810)ccG>ccA	p.P270P	C17orf53_ENST00000245382.6_Silent_p.P270P|C17orf53_ENST00000585683.1_Silent_p.P270P	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	270								p.P270P(2)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AAGTCTGTCCGCAACGCTCCC	0.562																																						ENST00000319977.4																			2	Substitution - coding silent(2)	p.P270P(2)	large_intestine(1)|lung(1)	NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(808-810)ccG>ccA		chromosome 17 open reading frame 53							114.0	102.0	106.0					17																	42225981		2203	4300	6503	SO:0001819	synonymous_variant	78995							g.chr17:42225981G>A	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.810G>A	17.37:g.42225981G>A						C17orf53_ENST00000245382.6_Silent_p.P270P|C17orf53_ENST00000585683.1_Silent_p.P270P	p.P270P	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	1047	+		Breast(137;0.0364)|Prostate(33;0.0376)	270					A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	ENST00000319977.4	37	c.810G>A	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	A	3.696	-0.062627	0.07273	.	.	ENSG00000125319	ENST00000253405	.	.	.	3.9	-2.33	0.06724	.	.	.	.	.	T	0.19565	0.0470	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.24048	-1.0171	5	0.29301	T	0.29	-3.2336	1.0994	0.01680	0.1794:0.2246:0.1418:0.4542	.	.	.	.	T	124	.	ENSP00000253405:A124T	A	+	1	0	C17orf53	39581507	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.524000	0.02233	-0.601000	0.05783	-0.381000	0.06696	GCA		0.562	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		5	769	0	0	0	1	0	5	769				
LOC100294341	100294341	broad.mit.edu	37	17	43580820	43580820	+	RNA	SNP	G	G	A	rs560625403		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:43580820G>A	ENST00000253803.2	+	0	195																											cctggggaccgtggggctgca	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14844	0.0		0.0	False		,,,				2504	0.0					ENST00000253803.2																			0																																																			0							g.chr17:43580820G>A																													17.37:g.43580820G>A														0	195	+									RNA	SNP	ENST00000253803.2	37																																																																																						0.572	RP11-798G7.5-201	KNOWN	basic	antisense	antisense				4	197	0	0	0	1	0	4	197				
PHF1	5252	broad.mit.edu	37	6	33382134	33382134	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:33382134C>A	ENST00000374516.3	+	9	1138	c.867C>A	c.(865-867)ctC>ctA	p.L289L	PHF1_ENST00000374512.3_Silent_p.L289L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	289					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				ACAGTTTGCTCCTGGGGGAGG	0.498											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(865-867)ctC>ctA		PHD finger protein 1							96.0	99.0	98.0					6																	33382134		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382134C>A	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.867C>A	6.37:g.33382134C>A			OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_ENST00000374512.3_Silent_p.L289L	p.L289L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			9	1138	+		Ovarian(999;0.0443)	289					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.867C>A	CCDS4777.1																																																																																				0.498	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			139	259	1	0	4.13896e-67	1	5.00956e-67	139	259				
TRPM3	80036	broad.mit.edu	37	9	73233816	73233816	+	Silent	SNP	G	G	A	rs369163585		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:73233816G>A	ENST00000377111.2	-	16	2532	c.2289C>T	c.(2287-2289)ggC>ggT	p.G763G	TRPM3_ENST00000396285.1_Silent_p.G610G|TRPM3_ENST00000377106.1_Silent_p.G635G|TRPM3_ENST00000423814.3_Silent_p.G790G|TRPM3_ENST00000360823.2_Silent_p.G625G|TRPM3_ENST00000396292.4_Silent_p.G635G|TRPM3_ENST00000377105.1_Silent_p.G622G|TRPM3_ENST00000358082.3_Silent_p.G625G|TRPM3_ENST00000408909.2_Silent_p.G622G|TRPM3_ENST00000396280.5_Silent_p.G612G|TRPM3_ENST00000377110.3_Silent_p.G763G|TRPM3_ENST00000357533.2_Silent_p.G767G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	788					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGCGGAGCCGGCCCATCCACA	0.637																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2287-2289)ggC>ggT		transient receptor potential cation channel, subfamily M, member 3							63.0	55.0	58.0					9																	73233816		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73233816G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2289C>T	9.37:g.73233816G>A						TRPM3_ENST00000360823.2_Silent_p.G625G|TRPM3_ENST00000423814.3_Silent_p.G790G|TRPM3_ENST00000396292.4_Silent_p.G635G|TRPM3_ENST00000357533.2_Silent_p.G767G|TRPM3_ENST00000377105.1_Silent_p.G622G|TRPM3_ENST00000358082.3_Silent_p.G625G|TRPM3_ENST00000377106.1_Silent_p.G635G|TRPM3_ENST00000408909.2_Silent_p.G622G|TRPM3_ENST00000396280.5_Silent_p.G612G|TRPM3_ENST00000377111.2_Silent_p.G763G|TRPM3_ENST00000396285.1_Silent_p.G610G	p.G763G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			16	2532	-			788					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.2289C>T		.	.	.	.	.	.	.	.	.	.	G	10.76	1.439904	0.25900	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.65	-0.694	0.11294	.	.	.	.	.	T	0.41511	0.1162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23404	-1.0189	4	.	.	.	-25.7501	1.7188	0.02907	0.3397:0.2102:0.3374:0.1127	.	.	.	.	S	612	.	.	P	-	1	0	TRPM3	72423636	0.984000	0.35163	0.988000	0.46212	0.997000	0.91878	0.094000	0.15107	-0.288000	0.09051	0.655000	0.94253	CCG		0.637	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		4	284	0	0	0	1	0	4	284				
CEACAM8	1088	broad.mit.edu	37	19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	rs143763173		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612																																						ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(34-36)cGc>cAc		carcinoembryonic antigen-related cell adhesion molecule 8		C	HIS/ARG	0,4406		0,0,2203	106.0	97.0	100.0		35	-2.9	0.0	19	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEACAM8	NM_001816.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/350	43098946	1,13005	2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43098946C>T	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.35G>A	19.37:g.43098946C>T	ENSP00000244336:p.Arg12His					LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H	p.R12H	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			1	136	-		Prostate(69;0.00899)	12					O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.35G>A	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	4.281	0.051329	0.08291	0.0	1.16E-4	ENSG00000124469	ENST00000244336	T	0.18657	2.2	1.48	-2.92	0.05615	.	.	.	.	.	T	0.05868	0.0153	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30621	-0.9972	9	0.33141	T	0.24	.	2.0313	0.03529	0.2556:0.3609:0.0:0.3835	.	12	P31997	CEAM8_HUMAN	H	12	ENSP00000244336:R12H	ENSP00000244336:R12H	R	-	2	0	CEACAM8	47790786	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.006000	0.00650	-0.779000	0.04560	-0.657000	0.03884	CGC		0.612	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			6	674	0	0	0	1	0	6	674				
SGCD	6444	broad.mit.edu	37	5	155771526	155771526	+	Missense_Mutation	SNP	C	C	T	rs566181541		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:155771526C>T	ENST00000435422.3	+	2	515	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	SGCD_ENST00000337851.4_Missense_Mutation_p.R11W|SGCD_ENST00000517913.1_Missense_Mutation_p.R11W|SGCD_ENST00000447401.1_Missense_Mutation_p.R11W	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	10					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTCACCACCGGAGCACCAT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18429	0.001		0.0	False		,,,				2504	0.0					ENST00000435422.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(28-30)Cgg>Tgg		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							108.0	109.0	109.0					5																	155771526		1950	4166	6116	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155771526C>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.28C>T	5.37:g.155771526C>T	ENSP00000403003:p.Arg10Trp					SGCD_ENST00000517913.1_Missense_Mutation_p.R11W|SGCD_ENST00000337851.4_Missense_Mutation_p.R11W|SGCD_ENST00000447401.1_Missense_Mutation_p.R11W	p.R10W	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	515	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	10					A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.28C>T	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212095	0.79240	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	T;D;D;T	0.86694	1.41;-2.15;-2.16;1.41	5.59	2.34	0.29019	.	0.051785	0.64402	D	0.000001	D	0.91297	0.7256	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.996;0.999	D	0.91387	0.5132	10	0.72032	D	0.01	0.2039	14.2572	0.66060	0.5847:0.4153:0.0:0.0	.	10;11;11	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	W	11;10;11;11	ENSP00000429378:R11W;ENSP00000403003:R10W;ENSP00000338343:R11W;ENSP00000408324:R11W	ENSP00000338343:R11W	R	+	1	2	SGCD	155704104	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.486000	0.35530	0.624000	0.30286	0.655000	0.94253	CGG		0.478	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			83	230	0	0	0	1	0	83	230				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	293	0	0	0	1	0	8	293				
RASAL3	64926	broad.mit.edu	37	19	15567402	15567402	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:15567402G>A	ENST00000343625.7	-	10	1572	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	496	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAACAGCAGCGCCTCACGGCC	0.617																																						ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(1486-1488)gCg>gTg		RAS protein activator like 3							67.0	72.0	70.0					19																	15567402		2182	4278	6460	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15567402G>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.1487C>T	19.37:g.15567402G>A	ENSP00000341905:p.Ala496Val					RASAL3_ENST00000595098.1_5'UTR	p.A496V	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN			10	1567	-			496			Ras-GAP.		Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.1487C>T	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.834497	0.71373	.	.	ENSG00000105122	ENST00000343625	T	0.79554	-1.28	4.37	4.37	0.52481	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.212338	0.22735	U	0.056263	T	0.82098	0.4963	L	0.49350	1.555	0.38814	D	0.955492	D	0.56968	0.978	P	0.54312	0.748	T	0.80476	-0.1366	10	0.23302	T	0.38	.	14.8191	0.70059	0.0:0.0:1.0:0.0	.	496	Q86YV0	RASL3_HUMAN	V	496	ENSP00000341905:A496V	ENSP00000341905:A496V	A	-	2	0	RASAL3	15428402	0.007000	0.16637	1.000000	0.80357	0.994000	0.84299	1.074000	0.30703	2.158000	0.67659	0.558000	0.71614	GCG		0.617	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		42	106	0	0	0	1	0	42	106				
IGHG4	3503	broad.mit.edu	37	14	106092333	106092333	+	RNA	SNP	G	G	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:106092333G>C	ENST00000390543.2	-	0	70							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GCAGCCCAGGGCGGCTGTGCT	0.672																																						ENST00000390543.2																			0																				36.0	27.0	30.0					14																	106092333		1991	4104	6095			0							g.chr14:106092333G>C	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106092333G>C														0	70	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.672	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		4	207	0	0	0	1	0	4	207				
PRG4	10216	broad.mit.edu	37	1	186276588	186276588	+	Silent	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:186276588T>C	ENST00000445192.2	+	7	1782	c.1737T>C	c.(1735-1737)acT>acC	p.T579T	PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T536T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	579	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T579T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCCCCAACTACCCCCAAGG	0.647																																						ENST00000445192.2																			1	Substitution - coding silent(1)	p.T579T(1)	endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1735-1737)acT>acC		proteoglycan 4							88.0	91.0	90.0					1																	186276588		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276588T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1737T>C	1.37:g.186276588T>C						PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367486.3_Silent_p.T536T	p.T579T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1782	+			579			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1737T>C	CCDS1369.1																																																																																				0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		28	503	0	0	0	1	0	28	503				
AHNAK	79026	broad.mit.edu	37	11	62297887	62297887	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:62297887C>T	ENST00000378024.4	-	5	4276	c.4002G>A	c.(4000-4002)ggG>ggA	p.G1334G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1334					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)				TCAATTTTGGCCCCTTAAGAT	0.493																																						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.(4000-4002)ggG>ggA		AHNAK nucleoprotein							192.0	193.0	192.0					11																	62297887		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297887C>T	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.4002G>A	11.37:g.62297887C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G1334G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4276	-		Melanoma(852;0.155)	1334					A1A586	Silent	SNP	ENST00000378024.4	37	c.4002G>A	CCDS31584.1																																																																																				0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	1296	0	0	0	1	0	8	1296				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	294	0	0	0	1	0	6	294				
ALPK2	115701	broad.mit.edu	37	18	56246544	56246544	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:56246544A>T	ENST00000361673.3	-	4	1677	c.1464T>A	c.(1462-1464)gaT>gaA	p.D488E	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	488						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTACTGATTCATCCATGTTGA	0.493											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1462-1464)gaT>gaA		alpha-kinase 2							148.0	149.0	148.0					18																	56246544		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246544A>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1464T>A	18.37:g.56246544A>T	ENSP00000354991:p.Asp488Glu		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.D488E	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1677	-			488					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1464T>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	10.08	1.251969	0.22880	.	.	ENSG00000198796	ENST00000361673	T	0.54479	0.57	5.34	-0.259	0.12971	.	0.515524	0.15105	N	0.280317	T	0.31231	0.0790	L	0.33485	1.01	0.09310	N	1	B	0.32829	0.386	B	0.24269	0.052	T	0.09122	-1.0689	10	0.35671	T	0.21	-8.4846	4.6008	0.12352	0.3972:0.4204:0.0685:0.1138	.	488	Q86TB3	ALPK2_HUMAN	E	488	ENSP00000354991:D488E	ENSP00000354991:D488E	D	-	3	2	ALPK2	54397524	0.027000	0.19231	0.028000	0.17463	0.004000	0.04260	0.054000	0.14205	-0.291000	0.09012	-0.313000	0.08912	GAT		0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		169	223	0	0	0	1	0	169	223				
TONSL	4796	broad.mit.edu	37	8	145660399	145660399	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:145660399C>T	ENST00000409379.3	-	19	3036		c.e19+1		AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein						cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTGCGGCTCACCTCGTCATTG	0.697																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.e19+1		tonsoku-like, DNA repair protein							22.0	24.0	23.0					8																	145660399		2200	4299	6499	SO:0001630	splice_region_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145660399C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3006+1G>A	8.37:g.145660399C>T								NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			19	3036	-								B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Splice_Site	SNP	ENST00000409379.3	37		CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774814	0.49786	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3613	0.74478	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TONSL	145631207	1.000000	0.71417	0.965000	0.40720	0.431000	0.31685	7.097000	0.76967	2.218000	0.71995	0.491000	0.48974	.		0.697	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432	Intron	31	80	0	0	0	1	0	31	80				
TRIB2	28951	broad.mit.edu	37	2	12858610	12858610	+	Silent	SNP	T	T	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:12858610T>G	ENST00000405331.3	+	1	247	c.177T>G	c.(175-177)tcT>tcG	p.S59S	TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000155926.4_Silent_p.S59S|RP11-333O1.1_ENST00000569860.1_lincRNA					tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATTGCGTTTCTTGTATCGGGA	0.567											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(175-177)tcT>tcG		tribbles pseudokinase 2							77.0	82.0	80.0					2																	12858610		2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12858610T>G	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.177T>G	2.37:g.12858610T>G			OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000405331.3_Silent_p.S59S	p.S59S	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			1	1596	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		59						Silent	SNP	ENST00000405331.3	37	c.177T>G																																																																																					0.567	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		143	367	0	0	0	1	0	143	367				
CDH16	1014	broad.mit.edu	37	16	66948290	66948290	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:66948290C>A	ENST00000299752.4	-	7	802	c.609G>T	c.(607-609)ctG>ctT	p.L203L	CDH16_ENST00000394055.3_Silent_p.L203L|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000570262.1_Silent_p.L123L|CDH16_ENST00000565796.1_Silent_p.L203L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	203	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGTCCTCTCCAGGGCGTGGT	0.607																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(607-609)ctG>ctT		cadherin 16, KSP-cadherin							77.0	63.0	68.0					16																	66948290		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66948290C>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.609G>T	16.37:g.66948290C>A						CDH16_ENST00000570262.1_Silent_p.L123L|CDH16_ENST00000565796.1_Silent_p.L203L|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000394055.3_Silent_p.L203L	p.L203L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	7	802	-		Ovarian(137;0.0563)	203			Cadherin 2.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.609G>T	CCDS10823.1																																																																																				0.607	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		5	207	1	0	0.000602214	1	0.000690775	5	207				
ARAP3	64411	broad.mit.edu	37	5	141050146	141050146	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:141050146G>A	ENST00000239440.4	-	14	2105	c.2040C>T	c.(2038-2040)agC>agT	p.S680S	ARAP3_ENST00000513878.1_Silent_p.S342S|ARAP3_ENST00000508305.1_Silent_p.S582S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	680					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACAGGAAGCCGCTGTAAGTAG	0.607																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2038-2040)agC>agT		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							91.0	79.0	83.0					5																	141050146		2203	4300	6503	SO:0001819	synonymous_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141050146G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2040C>T	5.37:g.141050146G>A						ARAP3_ENST00000513878.1_Silent_p.S342S|ARAP3_ENST00000508305.1_Silent_p.S582S	p.S680S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			14	2105	-			680					B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	c.2040C>T	CCDS4266.1																																																																																				0.607	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		5	328	0	0	0	1	0	5	328				
TTC14	151613	broad.mit.edu	37	3	180328309	180328309	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:180328309A>G	ENST00000296015.4	+	12	2424	c.2292A>G	c.(2290-2292)aaA>aaG	p.K764K	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	764							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAAAGAAAAAGGAAATAAGT	0.303																																						ENST00000296015.4																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(2290-2292)aaA>aaG		tetratricopeptide repeat domain 14							34.0	42.0	39.0					3																	180328309		2137	4256	6393	SO:0001819	synonymous_variant	151613						RNA binding	g.chr3:180328309A>G	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2292A>G	3.37:g.180328309A>G						TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	p.K764K	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2424	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		764					G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	c.2292A>G	CCDS3237.1																																																																																				0.303	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		5	649	0	0	0	1	0	5	649				
LAPTM4B	55353	broad.mit.edu	37	8	98788032	98788032	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:98788032C>T	ENST00000445593.2	+	1	748	c.68C>T	c.(67-69)gCg>gTg	p.A23V	RNU7-177P_ENST00000517101.1_RNA|LAPTM4B_ENST00000521545.2_5'UTR	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	76					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GCCGCTGCAGCGGTCGCCTTC	0.741																																						ENST00000445593.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10						c.(67-69)gCg>gTg		lysosomal protein transmembrane 4 beta							4.0	5.0	5.0					8																	98788032		1453	3173	4626	SO:0001583	missense	55353				transport	endomembrane system|integral to membrane	protein binding	g.chr8:98788032C>T	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000445593.2:c.68C>T	8.37:g.98788032C>T	ENSP00000402301:p.Ala23Val					LAPTM4B_ENST00000521545.2_5'UTR	p.A23V	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)		1	748	+	Breast(36;1.59e-06)		76					Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	ENST00000445593.2	37	c.68C>T	CCDS6275.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006333	0.54361	.	.	ENSG00000104341	ENST00000445593;ENST00000378722	T	0.52295	0.67	3.19	3.19	0.36642	.	.	.	.	.	T	0.27765	0.0683	N	0.08118	0	0.49299	D	0.999775	B;B	0.27498	0.18;0.174	B;B	0.25614	0.062;0.019	T	0.21211	-1.0252	9	0.59425	D	0.04	-0.0465	11.7285	0.51722	0.0:1.0:0.0:0.0	.	23;76	Q86SJ0;Q86VI4	.;LAP4B_HUMAN	V	23;69	ENSP00000402301:A23V	ENSP00000367995:A69V	A	+	2	0	LAPTM4B	98857208	0.014000	0.17966	0.002000	0.10522	0.006000	0.05464	1.584000	0.36589	1.831000	0.53308	0.584000	0.79450	GCG		0.741	LAPTM4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380014.1			3	35	0	0	0	1	0	3	35				
ZNF513	130557	broad.mit.edu	37	2	27601854	27601854	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27601854C>A	ENST00000323703.6	-	3	477	c.279G>T	c.(277-279)cgG>cgT	p.R93R	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Silent_p.R31R	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	93	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTTAGTGCCCGGCCGCCCC	0.647																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(277-279)cgG>cgT		zinc finger protein 513							16.0	20.0	19.0					2																	27601854		2128	4165	6293	SO:0001819	synonymous_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27601854C>A	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.279G>T	2.37:g.27601854C>A						ZNF513_ENST00000407879.1_Silent_p.R31R|ZNF513_ENST00000491924.1_5'UTR	p.R93R	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			3	477	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		93			Gly-rich.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	c.279G>T	CCDS1751.1																																																																																				0.647	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		4	171	1	0	0.00909568	1	0.0101999	4	171				
DAP3	7818	broad.mit.edu	37	1	155686900	155686900	+	Missense_Mutation	SNP	G	G	A	rs149919712		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:155686900G>A	ENST00000368336.5	+	3	273	c.149G>A	c.(148-150)cGc>cAc	p.R50H	DAP3_ENST00000471642.2_Intron|DAP3_ENST00000465375.1_Missense_Mutation_p.R50H|DAP3_ENST00000421487.2_Missense_Mutation_p.R50H|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.R50H|DAP3_ENST00000535183.1_Intron|DAP3_ENST00000496863.1_3'UTR	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	50					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCTATTTCCCGCACCAATGAG	0.473																																						ENST00000368336.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(148-150)cGc>cAc		death associated protein 3		G	HIS/ARG,HIS/ARG,,HIS/ARG,HIS/ARG	0,4406		0,0,2203	95.0	96.0	96.0		149,149,,149,149	4.3	1.0	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,missense	DAP3	NM_001199849.1,NM_001199850.1,NM_001199851.1,NM_004632.3,NM_033657.2	29,29,,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,,benign,benign	50/399,50/365,,50/399,50/399	155686900	1,13005	2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155686900G>A	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.149G>A	1.37:g.155686900G>A	ENSP00000357320:p.Arg50His					DAP3_ENST00000535183.1_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.R50H|DAP3_ENST00000343043.3_Missense_Mutation_p.R50H|DAP3_ENST00000471214.1_3'UTR	p.R50H	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN			3	273	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		50					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.149G>A	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	g	13.92	2.380775	0.42207	0.0	1.16E-4	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487	T;T;T	0.51574	0.7;0.7;0.73	5.2	4.27	0.50696	.	0.376195	0.29389	N	0.012299	T	0.28466	0.0704	M	0.67397	2.05	0.49389	D	0.999788	B;B;B	0.33883	0.111;0.111;0.43	B;B;B	0.21917	0.008;0.008;0.037	T	0.37753	-0.9692	10	0.62326	D	0.03	-1.3092	10.2787	0.43526	0.1459:0.0:0.8541:0.0	.	50;50;50	B4DY62;E7EM60;P51398	.;.;RT29_HUMAN	H	50	ENSP00000357320:R50H;ENSP00000341692:R50H;ENSP00000412605:R50H	ENSP00000341692:R50H	R	+	2	0	DAP3	153953524	0.564000	0.26602	0.971000	0.41717	0.650000	0.38633	2.796000	0.47869	2.698000	0.92095	0.591000	0.81541	CGC		0.473	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		6	767	0	0	0	1	0	6	767				
COL12A1	1303	broad.mit.edu	37	6	75840648	75840648	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:75840648G>A	ENST00000322507.8	-	36	6296	c.5987C>T	c.(5986-5988)cCg>cTg	p.P1996L	COL12A1_ENST00000345356.6_Missense_Mutation_p.P832L|COL12A1_ENST00000416123.2_Missense_Mutation_p.P1996L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P1996L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1996	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAGTGTGTCCGGAATCAGCCG	0.537																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5986-5988)cCg>cTg		collagen, type XII, alpha 1							95.0	98.0	97.0					6																	75840648		2076	4213	6289	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75840648G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5987C>T	6.37:g.75840648G>A	ENSP00000325146:p.Pro1996Leu					COL12A1_ENST00000416123.2_Missense_Mutation_p.P1996L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P832L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P1996L	p.P1996L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			36	6296	-			1996			Fibronectin type-III 15.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5987C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801669	0.70682	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.84224	0.5425	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.86880	0.2041	10	0.87932	D	0	.	19.6229	0.95667	0.0:0.0:1.0:0.0	.	832;1996	Q99715-2;Q99715	.;COCA1_HUMAN	L	1996;1996;832;1996;1996	ENSP00000325146:P1996L;ENSP00000305147:P832L;ENSP00000412864:P1996L;ENSP00000421216:P1996L	ENSP00000325146:P1996L	P	-	2	0	COL12A1	75897368	1.000000	0.71417	0.934000	0.37439	0.020000	0.10135	8.938000	0.92943	2.628000	0.89032	0.655000	0.94253	CCG		0.537	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		5	367	0	0	0	1	0	5	367				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		134	158	0	0	0	1	0	134	158				
EPN1	29924	broad.mit.edu	37	19	56203230	56203230	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56203230C>A	ENST00000270460.6	+	7	1184	c.873C>A	c.(871-873)ccC>ccA	p.P291P	AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Silent_p.P377P|EPN1_ENST00000085079.7_Silent_p.P266P	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	291	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGGCTGCCCCCACCTCGGACC	0.746																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1129-1131)ccC>ccA		epsin 1							21.0	25.0	23.0					19																	56203230		1823	4055	5878	SO:0001819	synonymous_variant	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56203230C>A	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.873C>A	19.37:g.56203230C>A						EPN1_ENST00000085079.7_Silent_p.P266P|EPN1_ENST00000270460.6_Silent_p.P291P	p.P377P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	7	1678	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	291			8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Silent	SNP	ENST00000270460.6	37	c.1131C>A	CCDS46199.1																																																																																				0.746	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		6	315	1	0	8.12818e-05	1	9.447e-05	6	315				
RGL1	23179	broad.mit.edu	37	1	183895311	183895311	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:183895311G>A	ENST00000360851.3	+	18	2370	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	RGL1_ENST00000536277.1_Missense_Mutation_p.R729H|RGL1_ENST00000539189.1_Missense_Mutation_p.R702H|RGL1_ENST00000304685.4_Missense_Mutation_p.R766H			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	731	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.R766H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TTCATTTTGCGCAAAAAGAAC	0.453																																						ENST00000304685.3																			1	Substitution - Missense(1)	p.R766H(1)	large_intestine(1)	breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(2296-2298)cGc>cAc		ral guanine nucleotide dissociation stimulator-like 1							109.0	104.0	105.0					1																	183895311		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183895311G>A	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2192G>A	1.37:g.183895311G>A	ENSP00000354097:p.Arg731His					RGL1_ENST00000367531.1_Missense_Mutation_p.R766H|RGL1_ENST00000539189.1_Missense_Mutation_p.R702H|RGL1_ENST00000536277.1_Missense_Mutation_p.R729H|RGL1_ENST00000360851.3_Missense_Mutation_p.R731H	p.R766H	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			19	2758	+			731					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.2297G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.663003	0.88251	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.37	5.37	0.77165	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.984;0.984;0.984	T	0.41840	-0.9486	10	0.87932	D	0	.	12.4607	0.55731	0.0779:0.0:0.9221:0.0	.	702;729;731;766	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	H	766;766;729;731;702	ENSP00000303192:R766H;ENSP00000356501:R766H;ENSP00000438662:R729H;ENSP00000354097:R731H;ENSP00000437355:R702H	ENSP00000303192:R766H	R	+	2	0	RGL1	182161934	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.289000	0.72696	2.666000	0.90696	0.650000	0.86243	CGC		0.453	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		6	826	0	0	0	1	0	6	826				
COL15A1	1306	broad.mit.edu	37	9	101797339	101797339	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:101797339A>G	ENST00000375001.3	+	18	2546	c.2123A>G	c.(2122-2124)aAg>aGg	p.K708R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	708	Collagen-like 2.|Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCGGGGAAAAAGGGACAAGCT	0.617																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2122-2124)aAg>aGg		collagen, type XV, alpha 1							48.0	48.0	48.0					9																	101797339		2202	4299	6501	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101797339A>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2123A>G	9.37:g.101797339A>G	ENSP00000364140:p.Lys708Arg						p.K708R	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			18	2546	+		Acute lymphoblastic leukemia(62;0.0562)	708			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2123A>G	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	8.041	0.763906	0.15914	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.93547	-3.24	5.69	4.53	0.55603	.	0.498001	0.19952	N	0.102410	T	0.80654	0.4664	N	0.01482	-0.84	0.19300	N	0.999977	B	0.14438	0.01	B	0.16722	0.016	T	0.68969	-0.5269	10	0.26408	T	0.33	-4.0721	9.8533	0.41070	0.8277:0.1723:0.0:0.0	.	708	P39059	COFA1_HUMAN	R	708;678	ENSP00000364140:K708R	ENSP00000364140:K708R	K	+	2	0	COL15A1	100837160	0.371000	0.25056	0.707000	0.30419	0.304000	0.27724	1.029000	0.30140	0.961000	0.38030	0.533000	0.62120	AAG		0.617	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		5	577	0	0	0	1	0	5	577				
CCBL1	883	broad.mit.edu	37	9	131597922	131597922	+	Missense_Mutation	SNP	G	G	A	rs369761548		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:131597922G>A	ENST00000302586.3	-	10	1042	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Missense_Mutation_p.R388W|CCBL1_ENST00000320665.6_Missense_Mutation_p.R244W	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	294					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	AGCTGCTCCCGTTCAAAGCTC	0.597																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(1162-1164)Cgg>Tgg		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						36.0	39.0	38.0					9																	131597922		2083	4214	6297	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131597922G>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.880C>T	9.37:g.131597922G>A	ENSP00000302227:p.Arg294Trp					CCBL1_ENST00000302586.3_Missense_Mutation_p.R294W|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R244W	p.R388W			Q16773	KAT1_HUMAN			12	1311	-			294					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.1162C>T	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	G	4.106	0.017792	0.07959	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90788	-2.73;-2.73;-2.73	5.3	1.33	0.21861	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.292468	0.36303	N	0.002673	D	0.84238	0.5428	M	0.72353	2.195	0.22330	N	0.999199	P;P;B;P	0.41041	0.736;0.457;0.35;0.457	B;B;B;B	0.30782	0.12;0.053;0.048;0.053	T	0.76211	-0.3042	10	0.54805	T	0.06	-22.8063	4.1211	0.10106	0.2372:0.0:0.375:0.3877	.	388;294;244;294	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	W	294;244;388	ENSP00000302227:R294W;ENSP00000317342:R244W;ENSP00000399415:R388W	ENSP00000302227:R294W	R	-	1	2	CCBL1	130637743	0.003000	0.15002	0.028000	0.17463	0.025000	0.11179	1.263000	0.33004	-0.020000	0.14032	-0.436000	0.05848	CGG		0.597	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			5	266	0	0	0	1	0	5	266				
KLHL26	55295	broad.mit.edu	37	19	18779455	18779455	+	Silent	SNP	C	C	T	rs372983424		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:18779455C>T	ENST00000300976.4	+	3	1338	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	416										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCATGGTGTACGCCACGGGCG	0.687																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1246-1248)taC>taT		kelch-like family member 26		C		0,4278		0,0,2139	7.0	7.0	7.0		1248	-3.0	1.0	19		7	1,8387		0,1,4193	no	coding-synonymous	KLHL26	NM_018316.1		0,1,6332	TT,TC,CC		0.0119,0.0,0.0079		416/616	18779455	1,12665	2139	4194	6333	SO:0001819	synonymous_variant	55295							g.chr19:18779455C>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1248C>T	19.37:g.18779455C>T						KLHL26_ENST00000599006.1_Intron	p.Y416Y	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	1338	+			416					Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.1248C>T	CCDS12384.1																																																																																				0.687	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		3	53	0	0	0	1	0	3	53				
SF3B3	23450	broad.mit.edu	37	16	70595636	70595636	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:70595636C>T	ENST00000302516.5	+	17	2448	c.2237C>T	c.(2236-2238)gCc>gTc	p.A746V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	746					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCGGGTTTTGCCTCGGAACAG	0.527																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(2236-2238)gCc>gTc		splicing factor 3b, subunit 3, 130kDa							152.0	125.0	134.0					16																	70595636		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70595636C>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2237C>T	16.37:g.70595636C>T	ENSP00000305790:p.Ala746Val						p.A746V	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			17	2448	+		Ovarian(137;0.0694)	746					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.2237C>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883026	0.91740	.	.	ENSG00000189091	ENST00000302516	T	0.30182	1.54	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.49350	1.555	0.80722	D	1	B	0.18741	0.03	B	0.19946	0.027	T	0.03651	-1.1016	10	0.34782	T	0.22	-16.5403	20.5948	0.99439	0.0:1.0:0.0:0.0	.	746	Q15393	SF3B3_HUMAN	V	746	ENSP00000305790:A746V	ENSP00000305790:A746V	A	+	2	0	SF3B3	69153137	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	7.770000	0.85390	2.873000	0.98535	0.563000	0.77884	GCC		0.527	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		6	718	0	0	0	1	0	6	718				
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412.0	337.0	362.0					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		14	2665	0	0	0	1	0	14	2665				
SEMA5A	9037	broad.mit.edu	37	5	9197404	9197404	+	Missense_Mutation	SNP	G	G	A	rs199625135	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:9197404G>A	ENST00000382496.5	-	10	1609	c.944C>T	c.(943-945)gCg>gTg	p.A315V		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	315	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGCTGAGGCCGCAATGCTGTT	0.617													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17654	0.002		0.0	False		,,,				2504	0.0					ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(943-945)gCg>gTg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							66.0	67.0	67.0					5																	9197404		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9197404G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.944C>T	5.37:g.9197404G>A	ENSP00000371936:p.Ala315Val						p.A315V	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			10	1609	-			315			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.944C>T	CCDS3875.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	17.29	3.350984	0.61183	.	.	ENSG00000112902	ENST00000382496	T	0.11930	2.73	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.050216	0.85682	D	0.000000	T	0.34832	0.0911	L	0.60067	1.865	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.01697	-1.1293	10	0.62326	D	0.03	.	16.8931	0.86093	0.0:0.0:1.0:0.0	.	315	Q13591	SEM5A_HUMAN	V	315	ENSP00000371936:A315V	ENSP00000371936:A315V	A	-	2	0	SEMA5A	9250404	1.000000	0.71417	0.595000	0.28798	0.207000	0.24258	7.594000	0.82698	2.651000	0.90000	0.644000	0.83932	GCG		0.617	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			9	487	0	0	0	1	0	9	487				
PLPPR2	64748	broad.mit.edu	37	19	11474857	11474857	+	Missense_Mutation	SNP	G	G	A	rs201858119		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:11474857G>A	ENST00000251473.5	+	9	1344	c.968G>A	c.(967-969)cGc>cAc	p.R323H	DKFZP761J1410_ENST00000591608.1_Silent_p.P303P	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCTGCAGGCCGCATTCGACAC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		13187	0.0		0.001	False		,,,				2504	0.0					ENST00000251473.5																			0											c.(967-969)cGc>cAc									68.0	78.0	75.0					19																	11474857		2203	4300	6503	SO:0001583	missense	0							g.chr19:11474857G>A																												ENST00000251473.5:c.968G>A	19.37:g.11474857G>A	ENSP00000251473:p.Arg323His					DKFZP761J1410_ENST00000591608.1_Silent_p.P303P	p.R323H	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					9	1344	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.968G>A	CCDS12258.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.04	3.011123	0.54361	.	.	ENSG00000105520	ENST00000251473	T	0.32023	1.47	4.83	2.39	0.29439	.	2.078530	0.01797	N	0.032683	T	0.23532	0.0569	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.30001	-0.9993	9	0.31617	T	0.26	.	5.8218	0.18532	0.1106:0.2557:0.6337:0.0	.	323	Q96GM1	LPPR2_HUMAN	H	323	ENSP00000251473:R323H	ENSP00000251473:R323H	R	+	2	0	AC024575.1	11335857	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.890000	0.39728	1.168000	0.42723	0.313000	0.20887	CGC		0.647	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			5	683	0	0	0	1	0	5	683				
RIMBP2	23504	broad.mit.edu	37	12	130927081	130927081	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:130927081G>A	ENST00000261655.4	-	8	928	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RIMBP2_ENST00000536002.1_Silent_p.S163S|RIMBP2_ENST00000535703.1_Silent_p.S163S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	255					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCCGATGCCGGAATGGTTGA	0.597																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(763-765)tcC>tcT		RIMS binding protein 2							193.0	179.0	184.0					12																	130927081		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130927081G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.765C>T	12.37:g.130927081G>A						RIMBP2_ENST00000536002.1_Silent_p.S163S|RIMBP2_ENST00000535703.1_Silent_p.S163S	p.S255S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	928	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	255					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.765C>T	CCDS31925.1																																																																																				0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		5	477	0	0	0	1	0	5	477				
PSMB4	5692	broad.mit.edu	37	1	151372491	151372491	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:151372491G>A	ENST00000290541.6	+	2	229	c.175G>A	c.(175-177)Gtt>Att	p.V59I		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTCCTCGGCGTTAAGTTCGA	0.592																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(175-177)Gtt>Att		proteasome (prosome, macropain) subunit, beta type, 4							96.0	97.0	97.0					1																	151372491		2203	4300	6503	SO:0001583	missense	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372491G>A	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.175G>A	1.37:g.151372491G>A	ENSP00000290541:p.Val59Ile						p.V59I	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	229	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		59					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	c.175G>A	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166446	0.21621	.	.	ENSG00000159377	ENST00000290541	T	0.28255	1.62	5.34	4.42	0.53409	Proteasome, beta-type subunit, conserved site (1);	0.057731	0.64402	D	0.000001	T	0.04543	0.0124	N	0.03903	-0.33	0.58432	D	0.999996	B;B	0.09022	0.001;0.002	B;B	0.17098	0.012;0.017	T	0.26815	-1.0092	10	0.02654	T	1	-15.3311	14.7134	0.69249	0.0:0.146:0.854:0.0	.	59;59	B4DFL3;P28070	.;PSB4_HUMAN	I	59	ENSP00000290541:V59I	ENSP00000290541:V59I	V	+	1	0	PSMB4	149639115	1.000000	0.71417	0.712000	0.30502	0.997000	0.91878	4.476000	0.60216	1.232000	0.43678	0.561000	0.74099	GTT		0.592	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		5	795	0	0	0	1	0	5	795				
CAPN2	824	broad.mit.edu	37	1	223943299	223943299	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:223943299G>A	ENST00000295006.5	+	10	1562	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q	CAPN2_ENST00000433674.2_Missense_Mutation_p.R340Q	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	418	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CACCGACGGCGGCAGAGGAAG	0.612																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1252-1254)cGg>cAg		calpain 2, (m/II) large subunit							129.0	101.0	111.0					1																	223943299		2203	4300	6503	SO:0001583	missense	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223943299G>A	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1253G>A	1.37:g.223943299G>A	ENSP00000295006:p.Arg418Gln					CAPN2_ENST00000433674.2_Missense_Mutation_p.R340Q	p.R418Q	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	10	1562	+			418			Domain III.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.1253G>A	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208065	0.58343	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.87256	-2.23;-2.23	5.35	5.35	0.76521	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.315914	0.31301	N	0.007898	T	0.80773	0.4687	M	0.64676	1.99	0.46185	D	0.998917	B;D	0.53462	0.389;0.96	B;B	0.35607	0.026;0.206	T	0.81046	-0.1110	10	0.46703	T	0.11	.	6.9595	0.24590	0.2108:0.0:0.7892:0.0	.	340;418	B7ZA96;P17655	.;CAN2_HUMAN	Q	340;418;447	ENSP00000413158:R340Q;ENSP00000295006:R418Q	ENSP00000295006:R418Q	R	+	2	0	CAPN2	222009922	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.344000	0.44010	2.507000	0.84556	0.563000	0.77884	CGG		0.612	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		4	264	0	0	0	1	0	4	264				
PPL	5493	broad.mit.edu	37	16	4940233	4940233	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:4940233C>A	ENST00000345988.2	-	18	2354	c.2265G>T	c.(2263-2265)caG>caT	p.Q755H	PPL_ENST00000590782.2_Missense_Mutation_p.Q753H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	755					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTCTGTCTCCTGGGGCTCGT	0.617																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(2263-2265)caG>caT		periplakin							138.0	108.0	118.0					16																	4940233		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4940233C>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2265G>T	16.37:g.4940233C>A	ENSP00000340510:p.Gln755His					PPL_ENST00000590782.2_Missense_Mutation_p.Q753H	p.Q755H	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			18	2354	-			755					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2265G>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138740	0.56936	.	.	ENSG00000118898	ENST00000345988	T	0.52526	0.66	5.19	2.13	0.27403	.	0.148194	0.45606	D	0.000360	T	0.57621	0.2066	M	0.64997	1.995	0.33090	D	0.537801	D	0.67145	0.996	P	0.61328	0.887	T	0.67511	-0.5652	10	0.66056	D	0.02	.	8.97	0.35901	0.0:0.6519:0.0:0.3481	.	755	O60437	PEPL_HUMAN	H	755	ENSP00000340510:Q755H	ENSP00000340510:Q755H	Q	-	3	2	PPL	4880234	0.681000	0.27614	1.000000	0.80357	0.872000	0.50106	-0.127000	0.10547	0.580000	0.29522	0.591000	0.81541	CAG		0.617	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		5	377	1	0	0.0215528	1	0.0236407	5	377				
FBXW10	10517	broad.mit.edu	37	17	18653098	18653098	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:18653098G>C	ENST00000395665.4	+	3	955	c.734G>C	c.(733-735)gGa>gCa	p.G245A	FBXW10_ENST00000308799.4_Missense_Mutation_p.G245A|FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A|FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	245								p.G245A(6)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTGGAAAAGGAGACATAACC	0.468																																						ENST00000308799.4																			6	Substitution - Missense(6)	p.G245A(6)	endometrium(6)	NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(733-735)gGa>gCa		F-box and WD repeat domain containing 10							231.0	173.0	193.0					17																	18653098		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18653098G>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.734G>C	17.37:g.18653098G>C	ENSP00000379025:p.Gly245Ala					FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A|FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A|FBXW10_ENST00000395665.4_Missense_Mutation_p.G245A	p.G245A			Q5XX13	FBW10_HUMAN			3	953	+			245					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.734G>C	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.343101	0.01277	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	2.49	-4.98	0.03019	.	1.434070	0.05440	N	0.547512	T	0.12987	0.0315	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.28522	-1.0041	10	0.06236	T	0.91	.	4.4282	0.11515	0.0:0.2164:0.3696:0.414	.	245;245;245;245	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	245	ENSP00000379026:G245A;ENSP00000310382:G245A;ENSP00000306937:G245A;ENSP00000379025:G245A	ENSP00000306937:G245A	G	+	2	0	FBXW10	18593823	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.502000	0.06390	-0.939000	0.03709	-0.750000	0.03501	GGA		0.468	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		5	680	0	0	0	1	0	5	680				
KIF21A	55605	broad.mit.edu	37	12	39735383	39735383	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																						ENST00000395670.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E602D(1)|p.E602E(1)	lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1843-1845)gaG>gaA		kinesin family member 21A							85.0	82.0	83.0					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735383C>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1845G>A	12.37:g.39735383C>T						KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E	p.E615E			Q7Z4S6	KI21A_HUMAN			14	2264	-		Lung NSC(34;0.179)|all_lung(34;0.213)	615					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1845G>A	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		5	295	0	0	0	1	0	5	295				
HYDIN	54768	broad.mit.edu	37	16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A	rs577654275	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517													G|||	3	0.000599042	0.0	0.0	5008	,	,		18962	0.0		0.0	False		,,,				2504	0.0031					ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(15208-15210)Cgg>Tgg		HYDIN, axonemal central pair apparatus protein							159.0	164.0	162.0					16																	70841641		2057	4196	6253	SO:0001583	missense	54768							g.chr16:70841641G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15208C>T	16.37:g.70841641G>A	ENSP00000377197:p.Arg5070Trp						p.R5070W	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			86	15358	-		Ovarian(137;0.0654)	5070					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.15208C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104288	0.56291	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	6.16	4.18	0.49190	.	0.373546	0.14700	U	0.303581	T	0.05640	0.0148	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.10337	-1.0634	10	0.72032	D	0.01	.	15.109	0.72340	0.0:0.0:0.7129:0.2871	.	5069	F8WD23	.	W	5070;5069	ENSP00000377197:R5070W	ENSP00000313052:R5069W	R	-	1	2	HYDIN	69399142	0.632000	0.27172	0.923000	0.36655	0.267000	0.26476	2.233000	0.43027	0.879000	0.35944	0.650000	0.86243	CGG		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			6	526	0	0	0	1	0	6	526				
ZNF516	9658	broad.mit.edu	37	18	74153538	74153538	+	Silent	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:74153538G>T	ENST00000443185.2	-	3	1790	c.1473C>A	c.(1471-1473)ggC>ggA	p.G491G	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GATCGAGGTGGCCGGCGGGCG	0.751																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1471-1473)ggC>ggA		zinc finger protein 516							1.0	2.0	2.0					18																	74153538		1120	2556	3676	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153538G>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1473C>A	18.37:g.74153538G>T						ZNF516_ENST00000524431.2_5'UTR	p.G491G	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1790	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	491						Silent	SNP	ENST00000443185.2	37	c.1473C>A																																																																																					0.751	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		3	18	1	0	1	1	1	3	18				
ADCK3	56997	broad.mit.edu	37	1	227170426	227170426	+	Missense_Mutation	SNP	C	C	T	rs140246430		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:227170426C>T	ENST00000366779.1	+	12	3672	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	ADCK3_ENST00000366777.3_Missense_Mutation_p.R301W|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_Missense_Mutation_p.R22W|ADCK3_ENST00000366778.1_Missense_Mutation_p.R249W|ADCK3_ENST00000458507.2_Missense_Mutation_p.R22W			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	301					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CGAGCGGGTGCGGCAGAGCGC	0.612																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(901-903)Cgg>Tgg		aarF domain containing kinase 3		C	TRP/ARG	0,4406		0,0,2203	95.0	84.0	88.0		901	-6.8	1.0	1	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCK3	NM_020247.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	301/648	227170426	1,13005	2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227170426C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.901C>T	1.37:g.227170426C>T	ENSP00000355741:p.Arg301Trp					ADCK3_ENST00000433743.2_Missense_Mutation_p.R22W|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.R249W|ADCK3_ENST00000366777.3_Missense_Mutation_p.R301W|ADCK3_ENST00000366776.1_Missense_Mutation_p.R226W|ADCK3_ENST00000366775.1_Missense_Mutation_p.R146W|ADCK3_ENST00000458507.2_Missense_Mutation_p.R22W	p.R301W			Q8NI60	ADCK3_HUMAN			12	3672	+			301					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.901C>T	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189917	0.78789	0.0	1.16E-4	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.76316	-0.79;-0.77;-0.79;-0.94;-0.56;-0.93;-1.01	5.57	-6.77	0.01727	.	0.049318	0.85682	D	0.000000	D	0.91402	0.7287	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.991	D	0.91124	0.4932	10	0.87932	D	0	-39.386	23.2457	0.99981	0.1551:0.8449:0.0:0.0	.	22;301	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	W	301;249;301;226;22;146;252;22	ENSP00000355741:R301W;ENSP00000355740:R249W;ENSP00000355739:R301W;ENSP00000355738:R226W;ENSP00000403704:R22W;ENSP00000355737:R146W;ENSP00000404550:R22W	ENSP00000355737:R146W	R	+	1	2	ADCK3	225237049	0.287000	0.24315	0.960000	0.40013	0.636000	0.38137	0.716000	0.25836	-1.011000	0.03391	-0.397000	0.06425	CGG		0.612	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		6	563	0	0	0	1	0	6	563				
NR2E3	10002	broad.mit.edu	37	15	72103116	72103116	+	RNA	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:72103116C>A	ENST00000398840.2	+	0	223							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						TGATGAGCTCCACAGTGGCTG	0.652																																						ENST00000398840.2																			0				breast(1)|endometrium(1)|lung(1)	3								nuclear receptor subfamily 2, group E, member 3							12.0	16.0	15.0					15																	72103116		1961	4142	6103			10002				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr15:72103116C>A		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"""Nuclear hormone receptors"""	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72103116C>A										Q9Y5X4	NR2E3_HUMAN			0	223	+								B6ZGU0|Q9UHM4	RNA	SNP	ENST00000398840.2	37																																																																																						0.652	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		3	28	1	0	6.4e-05	1	7.488e-05	3	28				
FOXK1	221937	broad.mit.edu	37	7	4796791	4796791	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:4796791G>A	ENST00000328914.4	+	5	1217	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	FOXK1_ENST00000446823.1_Missense_Mutation_p.R243H	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCCTGCTTCCGCACCCCCTTC	0.592																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1216-1218)cGc>cAc		forkhead box K1							72.0	80.0	77.0					7																	4796791		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4796791G>A	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1217G>A	7.37:g.4796791G>A	ENSP00000328720:p.Arg406His					FOXK1_ENST00000446823.1_Missense_Mutation_p.R243H	p.R406H	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1217	+		Ovarian(82;0.0175)	406						Missense_Mutation	SNP	ENST00000328914.4	37	c.1217G>A	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595530	0.96602	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.96745	-3.82;-4.11	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98333	1.0534	10	0.72032	D	0.01	.	18.8001	0.92013	0.0:0.0:1.0:0.0	.	406;243	P85037;P85037-2	FOXK1_HUMAN;.	H	243;170;406;289	ENSP00000394442:R243H;ENSP00000328720:R406H	ENSP00000328720:R406H	R	+	2	0	FOXK1	4763317	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.822000	0.99363	2.664000	0.90586	0.655000	0.94253	CGC		0.592	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			6	624	0	0	0	1	0	6	624				
CANX	821	broad.mit.edu	37	5	179146760	179146760	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:179146760G>A	ENST00000247461.4	+	9	1203	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	CANX_ENST00000452673.2_Missense_Mutation_p.D335N|CANX_ENST00000504734.1_Missense_Mutation_p.D335N|CANX_ENST00000415618.2_Missense_Mutation_p.D370N|CANX_ENST00000512607.2_Missense_Mutation_p.D227N	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	335	4 X approximate repeats.|Interaction with PPIB. {ECO:0000250}.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	ACCTGATCCAGACGCAGAGAA	0.408																																						ENST00000247461.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(1003-1005)Gac>Aac		calnexin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						71.0	72.0	72.0					5																	179146760		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179146760G>A	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1003G>A	5.37:g.179146760G>A	ENSP00000247461:p.Asp335Asn					CANX_ENST00000452673.2_Missense_Mutation_p.D335N|CANX_ENST00000415618.2_Missense_Mutation_p.D370N|CANX_ENST00000512607.2_Missense_Mutation_p.D227N|CANX_ENST00000504734.1_Missense_Mutation_p.D335N	p.D335N	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1203	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	335			4 X approximate repeats.|P domain (Extended arm) (By similarity).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.1003G>A	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533120	0.45073	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000512607;ENST00000376953	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.54	5.54	0.83059	Calreticulin/calnexin, conserved site (1);Calreticulin/calnexin, P (2);	0.088386	0.85682	D	0.000000	T	0.42517	0.1206	N	0.25890	0.77	0.58432	D	0.999993	B;B;B	0.13594	0.008;0.001;0.008	B;B;B	0.11329	0.004;0.002;0.006	T	0.23547	-1.0185	10	0.17832	T	0.49	-28.2272	19.4637	0.94929	0.0:0.0:1.0:0.0	.	370;271;335	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	N	335;370;335;335;271;227;271	ENSP00000424063:D335N;ENSP00000394817:D370N;ENSP00000391646:D335N;ENSP00000247461:D335N;ENSP00000421107:D271N;ENSP00000423588:D227N	ENSP00000247461:D335N	D	+	1	0	CANX	179079366	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.455000	0.73497	2.610000	0.88304	0.561000	0.74099	GAC		0.408	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		4	111	0	0	0	1	0	4	111				
PKD1	5310	broad.mit.edu	37	16	2156013	2156013	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:2156013G>A	ENST00000262304.4	-	20	7924	c.7716C>T	c.(7714-7716)atC>atT	p.I2572I	PKD1_ENST00000423118.1_Silent_p.I2572I|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2572	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGGGAGGGTGATGGCCAAAG	0.701																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(7714-7716)atC>atT		polycystic kidney disease 1 (autosomal dominant)							24.0	37.0	32.0					16																	2156013		1419	2602	4021	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2156013G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7716C>T	16.37:g.2156013G>A						PKD1_ENST00000423118.1_Silent_p.I2572I|PKD1_ENST00000561991.1_5'UTR	p.I2572I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			20	7924	-			2572			REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.7716C>T	CCDS32369.1																																																																																				0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			5	268	0	0	0	1	0	5	268				
FANCD2	2177	broad.mit.edu	37	3	10107621	10107621	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:10107621C>T	ENST00000419585.1	+	25	2504	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	FANCD2_ENST00000287647.3_Silent_p.F781F|FANCD2_ENST00000383807.1_Silent_p.F781F|FANCD2_ENST00000383806.1_Silent_p.F781F			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	781					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGCGTTCATTCATGTGTTCTC	0.393			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2341-2343)ttC>ttT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							151.0	124.0	133.0					3																	10107621		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10107621C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2343C>T	3.37:g.10107621C>T						FANCD2_ENST00000419585.1_Silent_p.F781F|FANCD2_ENST00000383806.1_Silent_p.F781F|FANCD2_ENST00000383807.1_Silent_p.F781F	p.F781F	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	25	2436	+			781					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.2343C>T	CCDS33696.1																																																																																				0.393	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			62	218	0	0	0	1	0	62	218				
PPP2R3B	28227	broad.mit.edu	37	X	322222	322222	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:322222G>A	ENST00000390665.3	-	2	446	c.428C>T	c.(427-429)gCc>gTc	p.A143V		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	143					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCTGATGACGGCATCCACGTT	0.632																																						ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(427-429)gCc>gTc		protein phosphatase 2, regulatory subunit B'', beta							261.0	298.0	286.0					X																	322222		2180	4269	6449	SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:322222G>A	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.428C>T	X.37:g.322222G>A	ENSP00000375080:p.Ala143Val						p.A143V	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			2	446	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	143					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.428C>T	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	G	4.486	0.090192	0.08632	.	.	ENSG00000167393	ENST00000390665;ENST00000381625	T;T	0.15139	2.45;2.45	1.62	1.62	0.23740	.	0.366225	0.24198	U	0.040653	T	0.11324	0.0276	L	0.38175	1.15	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.24297	-1.0164	10	0.27785	T	0.31	.	6.1622	0.20370	0.0:0.3177:0.6823:0.0	.	143	Q9Y5P8	P2R3B_HUMAN	V	143;115	ENSP00000375080:A143V;ENSP00000371038:A115V	ENSP00000371038:A115V	A	-	2	0	PPP2R3B	242222	0.975000	0.34042	0.007000	0.13788	0.275000	0.26752	1.276000	0.33156	0.579000	0.29504	0.115000	0.15696	GCC		0.632	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		6	326	0	0	0	1	0	6	326				
OTOF	9381	broad.mit.edu	37	2	26682924	26682924	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:26682924C>A	ENST00000272371.2	-	46	6089	c.5963G>T	c.(5962-5964)gGc>gTc	p.G1988V	OTOF_ENST00000402415.3_Missense_Mutation_p.G1298V|OTOF_ENST00000338581.6_Missense_Mutation_p.G1221V|OTOF_ENST00000339598.3_Intron|OTOF_ENST00000403946.3_Intron	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1988					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCAGGTAGCCAGGCACAGA	0.587																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(5962-5964)gGc>gTc		otoferlin							46.0	37.0	40.0					2																	26682924		2195	4292	6487	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26682924C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5963G>T	2.37:g.26682924C>A	ENSP00000272371:p.Gly1988Val					OTOF_ENST00000403946.3_Intron|OTOF_ENST00000402415.3_Missense_Mutation_p.G1298V|OTOF_ENST00000339598.3_Intron|OTOF_ENST00000338581.6_Missense_Mutation_p.G1221V	p.G1988V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			46	6089	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1988					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.5963G>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.264818	0.80358	.	.	ENSG00000115155	ENST00000338581;ENST00000402415;ENST00000272371	T;T;T	0.81163	-1.2;-1.2;-1.46	4.64	4.64	0.57946	.	0.049479	0.85682	D	0.000000	D	0.89829	0.6828	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.989;0.998;0.999	D	0.91563	0.5266	10	0.87932	D	0	-24.121	16.2659	0.82579	0.0:1.0:0.0:0.0	.	1988;1298;1221	Q9HC10;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.	V	1221;1298;1988	ENSP00000345137:G1221V;ENSP00000383906:G1298V;ENSP00000272371:G1988V	ENSP00000272371:G1988V	G	-	2	0	OTOF	26536428	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.651000	0.83577	2.131000	0.65755	0.457000	0.33378	GGC		0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			3	23	1	0	6.4e-05	1	7.488e-05	3	23				
KIF24	347240	broad.mit.edu	37	9	34256761	34256761	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:34256761A>G	ENST00000402558.2	-	10	2868	c.2844T>C	c.(2842-2844)taT>taC	p.Y948Y	KIF24_ENST00000379174.3_Silent_p.Y814Y|KIF24_ENST00000345050.2_Silent_p.Y814Y|KIF24_ENST00000379166.2_Silent_p.Y948Y			Q5T7B8	KIF24_HUMAN	kinesin family member 24	948					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTCCTGTCTATATATGAAAT	0.527																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2842-2844)taT>taC		kinesin family member 24							81.0	88.0	85.0					9																	34256761		2203	4300	6503	SO:0001819	synonymous_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34256761A>G	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2844T>C	9.37:g.34256761A>G						KIF24_ENST00000402558.2_Silent_p.Y948Y|KIF24_ENST00000345050.2_Silent_p.Y814Y|KIF24_ENST00000379174.3_Silent_p.Y814Y	p.Y948Y	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2963	-			948					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	c.2844T>C	CCDS6551.2																																																																																				0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			139	313	0	0	0	1	0	139	313				
SYT15	83849	broad.mit.edu	37	10	46967615	46967615	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:46967615C>A	ENST00000374321.4	-	4	528	c.462G>T	c.(460-462)tcG>tcT	p.S154S	SYT15_ENST00000503753.1_Silent_p.S154S|SYT15_ENST00000374323.4_Silent_p.S207S|SYT15_ENST00000374325.3_Silent_p.S154S|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	154	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CATATTCCACCGAGAACCACA	0.622																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(619-621)tcG>tcT		synaptotagmin XV							53.0	66.0	62.0					10																	46967615		2036	4187	6223	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46967615C>A	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.462G>T	10.37:g.46967615C>A						SYT15_ENST00000503753.1_Silent_p.S154S|SYT15_ENST00000374325.3_Silent_p.S154S|SYT15_ENST00000374321.4_Silent_p.S154S	p.S207S			Q9BQS2	SYT15_HUMAN			3	1208	-			154			C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.621G>T	CCDS44376.1																																																																																				0.622	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		5	469	1	0	1	1	1	5	469				
MIEF1	54471	broad.mit.edu	37	22	39910008	39910008	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:39910008G>T	ENST00000325301.2	+	6	1496	c.1072G>T	c.(1072-1074)Ggc>Tgc	p.G358C	MIEF1_ENST00000404569.1_Missense_Mutation_p.G358C|MIEF1_ENST00000402881.1_Missense_Mutation_p.G358C	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	358					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										GGCTGACTCGGGCTGCCGATC	0.642											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325301.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.(1072-1074)Ggc>Tgc									54.0	49.0	51.0					22																	39910008		2203	4300	6503	SO:0001583	missense	0					integral to membrane|mitochondrion		g.chr22:39910008G>T	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1072G>T	22.37:g.39910008G>T	ENSP00000327124:p.Gly358Cys		OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SMCR7L_ENST00000404569.1_Missense_Mutation_p.G358C|SMCR7L_ENST00000402881.1_Missense_Mutation_p.G358C	p.G358C	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			6	1496	+	Melanoma(58;0.04)		358					Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	c.1072G>T	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690911	0.88735	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.09350	2.99;2.99;2.99	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00752	-1.1581	10	0.33940	T	0.23	-36.8205	20.6439	0.99570	0.0:0.0:1.0:0.0	.	358;358	Q9NQG6;B0QY95	MID51_HUMAN;.	C	358	ENSP00000385110:G358C;ENSP00000327124:G358C;ENSP00000385191:G358C	ENSP00000327124:G358C	G	+	1	0	SMCR7L	38239954	1.000000	0.71417	0.981000	0.43875	0.894000	0.52154	9.849000	0.99510	2.884000	0.98904	0.655000	0.94253	GGC		0.642	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		5	373	1	0	1	1	1	5	373				
CIC	23152	broad.mit.edu	37	19	42794716	42794716	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:42794716G>A	ENST00000575354.2	+	10	1836	c.1796G>A	c.(1795-1797)cGg>cAg	p.R599Q	CIC_ENST00000572681.2_Missense_Mutation_p.R1508Q|CIC_ENST00000160740.3_Missense_Mutation_p.R599Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	599	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCACCTTCCGGCGCAAGAGA	0.682			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4522-4524)cGg>cAg		capicua transcriptional repressor							47.0	56.0	53.0					19																	42794716		2202	4298	6500	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794716G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1796G>A	19.37:g.42794716G>A	ENSP00000458663:p.Arg599Gln					CIC_ENST00000160740.3_Missense_Mutation_p.R599Q|CIC_ENST00000575354.2_Missense_Mutation_p.R599Q	p.R1508Q			Q96RK0	CIC_HUMAN			11	4591	+		Prostate(69;0.00682)	599					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.4523G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278484	0.59758	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.46268	0.1384	N	0.08118	0	0.33212	D	0.553589	D	0.64830	0.994	P	0.61201	0.885	T	0.61357	-0.7079	8	0.87932	D	0	-14.1927	14.1309	0.65253	0.0:0.0:1.0:0.0	.	599	Q96RK0	CIC_HUMAN	Q	599	.	ENSP00000160740:R599Q	R	+	2	0	CIC	47486556	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	3.324000	0.52022	2.489000	0.83994	0.491000	0.48974	CGG		0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	706	0	0	0	1	0	8	706				
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G	rs544520355	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000511528.1_Silent_p.P701P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14.0	17.0	16.0					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|RP11-76G10.1_ENST00000514843.1_RNA	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			8	28	0	0	0	1	0	8	28				
ISLR2	57611	broad.mit.edu	37	15	74425848	74425848	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:74425848C>T	ENST00000361742.3	+	4	1522	c.753C>T	c.(751-753)cgC>cgT	p.R251R	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Silent_p.R251R|ISLR2_ENST00000435464.1_Silent_p.R251R|ISLR2_ENST00000565159.1_Silent_p.R251R|ISLR2_ENST00000453268.2_Silent_p.R251R|ISLR2_ENST00000419208.1_Silent_p.R251R|ISLR2_ENST00000445793.1_Silent_p.R251R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	251	Ig-like.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCCCACTGCGCGCAGGACTGG	0.677																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(751-753)cgC>cgT		immunoglobulin superfamily containing leucine-rich repeat 2							35.0	34.0	34.0					15																	74425848		2196	4296	6492	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425848C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.753C>T	15.37:g.74425848C>T						ISLR2_ENST00000453268.2_Silent_p.R251R|ISLR2_ENST00000445793.1_Silent_p.R251R|ISLR2_ENST00000419208.1_Silent_p.R251R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Silent_p.R251R|ISLR2_ENST00000435464.1_Silent_p.R251R|ISLR2_ENST00000565159.1_Silent_p.R251R	p.R251R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1522	+			251			Ig-like.		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.753C>T	CCDS10259.1																																																																																				0.677	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		88	188	0	0	0	1	0	88	188				
NPR3	4883	broad.mit.edu	37	5	32712250	32712250	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:32712250C>T	ENST00000265074.8	+	1	711	c.368C>T	c.(367-369)gCg>gTg	p.A123V	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.A123V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	123					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GTGGCGGCGGCGCGGGGCGCC	0.677																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(367-369)gCg>gTg		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						48.0	57.0	55.0					5																	32712250		1929	4132	6061	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712250C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.368C>T	5.37:g.32712250C>T	ENSP00000265074:p.Ala123Val					NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.A123V|NPR3_ENST00000415685.2_Intron	p.A123V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			1	711	+			123					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.368C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759159	0.31137	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	T;T	0.20069	2.1;2.1	5.37	4.49	0.54785	Extracellular ligand-binding receptor (1);	0.615932	0.18341	N	0.144192	T	0.06962	0.0177	N	0.08118	0	0.58432	D	0.999999	P;P	0.40360	0.714;0.714	B;B	0.24848	0.056;0.056	T	0.32214	-0.9915	10	0.19590	T	0.45	-13.9395	6.1396	0.20253	0.0:0.5393:0.3147:0.146	.	123;123	P17342;Q60I31	ANPRC_HUMAN;.	V	123	ENSP00000265074:A123V;ENSP00000398028:A123V	ENSP00000265074:A123V	A	+	2	0	NPR3	32748007	0.998000	0.40836	0.997000	0.53966	0.863000	0.49368	2.503000	0.45407	1.251000	0.43983	0.561000	0.74099	GCG		0.677	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		6	502	0	0	0	1	0	6	502				
PIK3CA	5290	broad.mit.edu	37	3	178936074	178936074	+	Missense_Mutation	SNP	C	C	G	rs121913285		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:178936074C>G	ENST00000263967.3	+	10	1773	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	539	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P539R(17)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACACGAGATCCTCTCTCTGAA	0.328	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	P539R(BT20_BREAST)|P539R(MFE296_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		17	Substitution - Missense(17)	p.P539R(17)	breast(12)|thyroid(1)|large_intestine(1)|central_nervous_system(1)|endometrium(1)|lung(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1615-1617)cCt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							53.0	53.0	53.0					3																	178936074		1806	4068	5874	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936074C>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1616C>G	3.37:g.178936074C>G	ENSP00000263967:p.Pro539Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.P539R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1773	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		539			PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1616C>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987372	0.93106	.	.	ENSG00000121879	ENST00000263967	D	0.89270	-2.49	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	M	0.80332	2.49	0.80722	D	1	D	0.59357	0.985	D	0.63192	0.912	D	0.94197	0.7446	10	0.59425	D	0.04	-26.0829	20.0024	0.97423	0.0:1.0:0.0:0.0	.	539	P42336	PK3CA_HUMAN	R	539	ENSP00000263967:P539R	ENSP00000263967:P539R	P	+	2	0	PIK3CA	180418768	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CCT		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			85	251	0	0	0	1	0	85	251				
SLC24A1	9187	broad.mit.edu	37	15	65917920	65917920	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:65917920C>A	ENST00000261892.6	+	2	1789	c.1502C>A	c.(1501-1503)gCt>gAt	p.A501D	SLC24A1_ENST00000339868.6_Missense_Mutation_p.A501D|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A501D|SLC24A1_ENST00000537259.1_Missense_Mutation_p.A501D|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A501D|SLC24A1_ENST00000546330.1_Missense_Mutation_p.A501D	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	501					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACATTCATGGCTGCTGGAGGC	0.567																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1501-1503)gCt>gAt		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							128.0	137.0	134.0					15																	65917920		2066	4217	6283	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65917920C>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1502C>A	15.37:g.65917920C>A	ENSP00000261892:p.Ala501Asp					SLC24A1_ENST00000546330.1_Missense_Mutation_p.A501D|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A501D|SLC24A1_ENST00000537259.1_Missense_Mutation_p.A501D|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A501D|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A501D	p.A501D	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	1789	+			501					O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.1502C>A	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329896	0.95733	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.39	5.39	0.77823	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.94155	0.8125	H	0.98276	4.19	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.95994	0.8988	10	0.87932	D	0	.	18.3245	0.90248	0.0:1.0:0.0:0.0	.	501;501;501;501;501	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	D	501	ENSP00000439693:A501D;ENSP00000261892:A501D;ENSP00000341837:A501D;ENSP00000445163:A501D;ENSP00000381991:A501D;ENSP00000439190:A501D	ENSP00000261892:A501D	A	+	2	0	SLC24A1	63704974	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.606000	0.82863	2.808000	0.96608	0.561000	0.74099	GCT		0.567	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		6	442	1	0	0.217242	1	0.233187	6	442				
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378																																						ENST00000545588.1																			3	Substitution - Nonsense(3)	p.S805*(3)	endometrium(2)|lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2413-2415)tCa>tGa		zinc finger CCCH-type containing 11A																																				SO:0001587	stop_gained	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821508C>G		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2414C>G	1.37:g.203821508C>G	ENSP00000438527:p.Ser805*					ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*	p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6241	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		805					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Nonsense_Mutation	SNP	ENST00000545588.1	37	c.2414C>G	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	40	8.446087	0.98815	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	.	.	.	5.9	4.99	0.66335	.	0.140252	0.49916	D	0.000132	.	.	.	.	.	.	0.45172	D	0.998181	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.7509	15.4578	0.75330	0.14:0.86:0.0:0.0	.	.	.	.	X	805;751;805;805;805;805	.	ENSP00000333253:S805X	S	+	2	0	ZC3H11A	202088131	1.000000	0.71417	0.920000	0.36463	0.858000	0.48976	6.206000	0.72154	1.492000	0.48499	-0.175000	0.13238	TCA		0.378	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		5	312	0	0	0	1	0	5	312				
ZNF208	7757	broad.mit.edu	37	19	22155721	22155721	+	Silent	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:22155721G>T	ENST00000397126.4	-	4	2263	c.2115C>A	c.(2113-2115)tcC>tcA	p.S705S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	705					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S605S(2)|p.S705S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTTTGAGGACCAGTTGA	0.368																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.S605S(2)|p.S705S(1)	large_intestine(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2113-2115)tcC>tcA		zinc finger protein 208							36.0	38.0	37.0					19																	22155721		2008	4197	6205	SO:0001819	synonymous_variant	7757							g.chr19:22155721G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2115C>A	19.37:g.22155721G>T						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.S705S	NM_007153.3	NP_009084.2					4	2263	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2115C>A	CCDS54240.1																																																																																				0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	503	1	0	0.00198382	1	0.00225346	5	503				
CLPTM1	1209	broad.mit.edu	37	19	45494548	45494548	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:45494548C>T	ENST00000337392.5	+	12	1622	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	CLPTM1_ENST00000541297.2_Missense_Mutation_p.A477V|CLPTM1_ENST00000546079.1_Missense_Mutation_p.A389V	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	491					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGCTGCTATGCCGTCTACAGT	0.637																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1429-1431)gCc>gTc		cleft lip and palate associated transmembrane protein 1							249.0	214.0	226.0					19																	45494548		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45494548C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1472C>T	19.37:g.45494548C>T	ENSP00000336994:p.Ala491Val					CLPTM1_ENST00000546079.1_Missense_Mutation_p.A389V|CLPTM1_ENST00000337392.5_Missense_Mutation_p.A491V	p.A477V			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	12	1895	+		all_neural(266;0.224)|Ovarian(192;0.231)	491					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1430C>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475190	0.96291	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.83801	0.5333	M	0.91038	3.17	0.80722	D	1	P;P	0.45283	0.855;0.775	P;P	0.57009	0.772;0.811	D	0.86836	0.2014	9	0.72032	D	0.01	-27.9628	16.9789	0.86322	0.0:1.0:0.0:0.0	.	477;491	F5H8J3;O96005	.;CLPT1_HUMAN	V	389;477;491;491	.	ENSP00000336994:A491V	A	+	2	0	CLPTM1	50186388	1.000000	0.71417	0.957000	0.39632	0.893000	0.52053	7.144000	0.77357	2.610000	0.88304	0.650000	0.86243	GCC		0.637	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		7	1240	0	0	0	1	0	7	1240				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		10	290	0	0	0	1	0	10	290				
TRIOBP	11078	broad.mit.edu	37	22	38165362	38165362	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38165362C>T	ENST00000406386.3	+	21	7084	c.6829C>T	c.(6829-6831)Cgg>Tgg	p.R2277W	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R564W	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2277					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGCAACGAGCGGAGTTCCTG	0.667																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(6829-6831)Cgg>Tgg		TRIO and F-actin binding protein							14.0	17.0	16.0					22																	38165362		1982	4164	6146	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38165362C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6829C>T	22.37:g.38165362C>T	ENSP00000384312:p.Arg2277Trp					TRIOBP_ENST00000403663.2_Missense_Mutation_p.R564W|RP1-37E16.12_ENST00000455236.1_RNA	p.R2277W	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			21	7084	+	Melanoma(58;0.0574)		2277					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.6829C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193152	0.58017	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	T	0.23950	1.88	4.96	0.994	0.19832	.	.	.	.	.	T	0.44265	0.1285	L	0.53249	1.67	0.44711	D	0.997706	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.971;0.989;0.976	T	0.48305	-0.9047	9	0.87932	D	0	.	14.7584	0.69588	0.5226:0.4774:0.0:0.0	.	2179;266;564;2277	Q9H2D6-2;Q8TCM3;F8W6V6;Q9H2D6	.;.;.;TARA_HUMAN	W	2277;564	ENSP00000384312:R2277W	ENSP00000386026:R564W	R	+	1	2	TRIOBP	36495308	1.000000	0.71417	0.989000	0.46669	0.459000	0.32528	0.925000	0.28791	0.428000	0.26173	0.462000	0.41574	CGG		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			9	53	0	0	0	1	0	9	53				
INHBB	3625	broad.mit.edu	37	2	121106698	121106698	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:121106698C>T	ENST00000295228.3	+	2	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	158					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCCCGGGTCCGCCTATACTT	0.557																																						ENST00000295228.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15						c.(472-474)Cgc>Tgc		inhibin, beta B							56.0	60.0	59.0					2																	121106698		2203	4300	6503	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121106698C>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.472C>T	2.37:g.121106698C>T	ENSP00000295228:p.Arg158Cys						p.R158C	NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN			2	518	+		Prostate(154;0.122)	158					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.472C>T	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070536	0.55539	.	.	ENSG00000163083	ENST00000295228	T	0.66995	-0.24	5.09	5.09	0.68999	Transforming growth factor-beta, N-terminal (1);	0.216528	0.39210	N	0.001426	T	0.61751	0.2372	L	0.54323	1.7	0.47698	D	0.999492	B	0.17667	0.023	B	0.12837	0.008	T	0.60667	-0.7218	10	0.59425	D	0.04	-3.9508	12.8184	0.57679	0.1636:0.8364:0.0:0.0	.	158	P09529	INHBB_HUMAN	C	158	ENSP00000295228:R158C	ENSP00000295228:R158C	R	+	1	0	INHBB	120823168	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	1.726000	0.38085	2.804000	0.96469	0.655000	0.94253	CGC		0.557	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			109	282	0	0	0	1	0	109	282				
DOCK3	1795	broad.mit.edu	37	3	51418833	51418833	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:51418833A>C	ENST00000266037.9	+	53	5959	c.5936A>C	c.(5935-5937)cAc>cCc	p.H1979P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1979					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.H1979P(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGCCCTACCACCCCCGCCTG	0.692																																						ENST00000266037.9																			1	Substitution - Missense(1)	p.H1979P(1)	prostate(1)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5935-5937)cAc>cCc		dedicator of cytokinesis 3							16.0	22.0	20.0					3																	51418833		2053	4184	6237	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51418833A>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5936A>C	3.37:g.51418833A>C	ENSP00000266037:p.His1979Pro						p.H1979P	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	53	5959	+			1979					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5936A>C	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396581	0.42512	.	.	ENSG00000088538	ENST00000266037	T	0.04862	3.54	6.17	6.17	0.99709	.	0.059320	0.64402	D	0.000006	T	0.08313	0.0207	L	0.47716	1.5	0.48511	D	0.999662	P	0.50943	0.94	B	0.41571	0.36	T	0.37709	-0.9694	10	0.25106	T	0.35	.	15.3933	0.74767	1.0:0.0:0.0:0.0	.	1979	Q8IZD9	DOCK3_HUMAN	P	1979	ENSP00000266037:H1979P	ENSP00000266037:H1979P	H	+	2	0	DOCK3	51393873	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	2.814000	0.48010	2.371000	0.80710	0.533000	0.62120	CAC		0.692	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		32	91	0	0	0	1	0	32	91				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		11	655	0	0	0	1	0	11	655				
LRRCC1	85444	broad.mit.edu	37	8	86022348	86022348	+	Splice_Site	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:86022348A>T	ENST00000360375.3	+	3	459		c.e3-1		LRRCC1_ENST00000414626.2_Splice_Site	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1						mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(4)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ttttttttttaGGACTTGAAG	0.244																																						ENST00000414626.2																			4	Unknown(4)	p.?(4)	kidney(4)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.e2-1		leucine rich repeat and coiled-coil centrosomal protein 1							53.0	48.0	49.0					8																	86022348		1779	4047	5826	SO:0001630	splice_region_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86022348A>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.311-1A>T	8.37:g.86022348A>T						LRRCC1_ENST00000360375.3_Splice_Site				Q9C099	LRCC1_HUMAN			2	1139	+								B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Splice_Site	SNP	ENST00000360375.3	37		CCDS43750.1																																																																																				0.244	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	Intron	6	565	0	0	0	1	0	6	565				
ZNF780A	284323	broad.mit.edu	37	19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:40581109T>C	ENST00000595687.2	-	6	1449	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000450241.2_Missense_Mutation_p.I380V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383																																						ENST00000450241.2																			2	Substitution - Missense(2)	p.I415V(1)|p.I380V(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1138-1140)Ata>Gta		zinc finger protein 780A							178.0	182.0	180.0					19																	40581109		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581109T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1240A>G	19.37:g.40581109T>C	ENSP00000472189:p.Ile414Val					ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V	p.I380V			O75290	Z780A_HUMAN			6	1449	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		414					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1138A>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415046	0.25552	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.16897	2.31;2.31	1.93	0.83	0.18854	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31641	-0.9936	9	0.59425	D	0.04	.	8.0199	0.30404	0.0:0.8348:0.0:0.1652	.	415;414	E9PB48;O75290	.;Z780A_HUMAN	V	414;415;414	ENSP00000400997:I415V;ENSP00000341507:I414V	ENSP00000341507:I414V	I	-	1	0	ZNF780A	45272949	0.003000	0.15002	0.007000	0.13788	0.407000	0.30961	1.030000	0.30153	-0.222000	0.09958	-1.945000	0.00491	ATA		0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		10	1486	0	0	0	1	0	10	1486				
HOXC10	3226	broad.mit.edu	37	12	54383224	54383224	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:54383224C>A	ENST00000303460.4	+	2	1097	c.1023C>A	c.(1021-1023)ttC>ttA	p.F341L	MIR196A2_ENST00000385189.1_RNA|HOXC10_ENST00000511575.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	341					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						ATTTTAATTTCACCTGAGAGC	0.488											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000303460.4																			0				endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						c.(1021-1023)ttC>ttA		homeobox C10							37.0	32.0	34.0					12																	54383224		2203	4300	6503	SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54383224C>A		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.1023C>A	12.37:g.54383224C>A	ENSP00000307321:p.Phe341Leu		OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	999	HOXC10_ENST00000511575.1_3'UTR	p.F341L	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN			2	1097	+			341					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.1023C>A	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918709	0.52546	.	.	ENSG00000180818	ENST00000303460	D	0.95724	-3.79	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	L	0.56769	1.78	0.80722	D	1	P	0.49559	0.925	P	0.45639	0.488	D	0.93007	0.6428	10	0.72032	D	0.01	.	8.6487	0.34022	0.0:0.8851:0.0:0.1149	.	341	Q9NYD6	HXC10_HUMAN	L	341	ENSP00000307321:F341L	ENSP00000307321:F341L	F	+	3	2	HOXC10	52669491	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.527000	0.35975	1.864000	0.54056	0.462000	0.41574	TTC		0.488	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			4	153	1	0	3.59834e-05	1	4.25258e-05	4	153				
SUSD3	203328	broad.mit.edu	37	9	95841808	95841808	+	Missense_Mutation	SNP	G	G	A	rs533389735		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:95841808G>A	ENST00000375472.3	+	4	517	c.481G>A	c.(481-483)Gca>Aca	p.A161T	SUSD3_ENST00000375469.1_Missense_Mutation_p.A148T	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	161						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GGTGCAGGCCGCATACCTTGG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20088	0.0		0.0	False		,,,				2504	0.0					ENST00000375472.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						c.(481-483)Gca>Aca		sushi domain containing 3							79.0	68.0	72.0					9																	95841808		2203	4300	6503	SO:0001583	missense	203328					integral to membrane		g.chr9:95841808G>A	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.481G>A	9.37:g.95841808G>A	ENSP00000364621:p.Ala161Thr					SUSD3_ENST00000375469.1_Missense_Mutation_p.A148T	p.A161T	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN			4	517	+			161					Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	c.481G>A	CCDS6701.1	.	.	.	.	.	.	.	.	.	.	G	6.487	0.458085	0.12342	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.63417	-0.04;0.39	4.97	-1.88	0.07713	.	0.503595	0.19627	N	0.109778	T	0.44138	0.1279	L	0.50333	1.59	0.09310	N	1	P;P	0.46706	0.883;0.814	B;B	0.37091	0.241;0.122	T	0.40942	-0.9536	10	0.45353	T	0.12	-8.9439	4.6085	0.12389	0.0754:0.1228:0.2986:0.5032	.	148;161	Q96L08-2;Q96L08	.;SUSD3_HUMAN	T	161;148	ENSP00000364621:A161T;ENSP00000364618:A148T	ENSP00000364618:A148T	A	+	1	0	SUSD3	94881629	0.553000	0.26513	0.000000	0.03702	0.022000	0.10575	0.852000	0.27764	-0.458000	0.07023	-0.175000	0.13238	GCA		0.607	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		4	204	0	0	0	1	0	4	204				
PEX16	9409	broad.mit.edu	37	11	45936217	45936217	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:45936217C>T	ENST00000378750.5	-	6	722	c.479G>A	c.(478-480)gGc>gAc	p.G160D	PEX16_ENST00000532681.1_Missense_Mutation_p.G65D|PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000241041.3_Missense_Mutation_p.G160D			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	160					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTCATGGTTGCCAGGGCTGTG	0.582																																						ENST00000532681.1																			0				large_intestine(2)|lung(2)|ovary(2)|skin(1)	7						c.(193-195)gGc>gAc		peroxisomal biogenesis factor 16							159.0	132.0	141.0					11																	45936217		2203	4299	6502	SO:0001583	missense	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45936217C>T	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.479G>A	11.37:g.45936217C>T	ENSP00000368024:p.Gly160Asp					PEX16_ENST00000378750.5_Missense_Mutation_p.G160D|PEX16_ENST00000241041.3_Missense_Mutation_p.G160D|PEX16_ENST00000532554.1_5'UTR	p.G65D			Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	6	1057	-			160					Q9BWB9	Missense_Mutation	SNP	ENST00000378750.5	37	c.194G>A	CCDS31472.1	.	.	.	.	.	.	.	.	.	.	C	3.698	-0.062097	0.07317	.	.	ENSG00000121680	ENST00000241041;ENST00000378750;ENST00000532681;ENST00000533151;ENST00000525192	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.85	4.0	0.46444	.	0.670270	0.16493	N	0.212040	T	0.13756	0.0333	L	0.31294	0.92	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.12156	0.007;0.004	T	0.32161	-0.9917	10	0.15952	T	0.53	-5.9846	8.1875	0.31348	0.0:0.7141:0.139:0.1469	.	160;160	Q9Y5Y5;Q9Y5Y5-2	PEX16_HUMAN;.	D	160;160;65;56;65	ENSP00000241041:G160D;ENSP00000368024:G160D;ENSP00000434654:G65D;ENSP00000433045:G56D;ENSP00000431309:G65D	ENSP00000241041:G160D	G	-	2	0	PEX16	45892793	0.123000	0.22298	0.047000	0.18901	0.134000	0.20937	0.876000	0.28092	0.827000	0.34685	-0.291000	0.09656	GGC		0.582	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		114	316	0	0	0	1	0	114	316				
SLC4A1AP	22950	broad.mit.edu	37	2	27888028	27888028	+	Missense_Mutation	SNP	G	G	A	rs142838727		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27888028G>A	ENST00000326019.6	+	2	1169	c.887G>A	c.(886-888)cGc>cAc	p.R296H	SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	296						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AAGGAATTGCGCAAGCAGCAG	0.413																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(886-888)cGc>cAc		solute carrier family 4 (anion exchanger), member 1, adaptor protein		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	143.0	152.0	149.0		887	5.5	1.0	2	dbSNP_134	149	1,8599		0,1,4299	no	missense	SLC4A1AP	NM_018158.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	296/797	27888028	2,13004	2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27888028G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.887G>A	2.37:g.27888028G>A	ENSP00000323837:p.Arg296His						p.R296H	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			2	1169	+	Acute lymphoblastic leukemia(172;0.155)		296					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.887G>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370646	0.61624	2.27E-4	1.16E-4	ENSG00000163798	ENST00000326019	T	0.35605	1.3	5.49	5.49	0.81192	.	0.109679	0.64402	D	0.000006	T	0.33789	0.0875	M	0.64997	1.995	0.58432	D	0.999994	P	0.52463	0.953	B	0.37833	0.259	T	0.26849	-1.0091	10	0.49607	T	0.09	-10.582	12.6966	0.57008	0.0752:0.0:0.9248:0.0	.	296	Q9BWU0	NADAP_HUMAN	H	296	ENSP00000323837:R296H	ENSP00000323837:R296H	R	+	2	0	SLC4A1AP	27741532	1.000000	0.71417	0.992000	0.48379	0.921000	0.55340	4.675000	0.61619	2.575000	0.86900	0.462000	0.41574	CGC		0.413	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		5	522	0	0	0	1	0	5	522				
EIF3A	8661	broad.mit.edu	37	10	120819136	120819136	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:120819136G>A	ENST00000369144.3	-	10	1548	c.1421C>T	c.(1420-1422)gCa>gTa	p.A474V	SNORA19_ENST00000410656.1_RNA|SNORA19_ENST00000384737.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.A440V	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATGCCTGGCTGCATCTACTAT	0.463																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(1420-1422)gCa>gTa		eukaryotic translation initiation factor 3, subunit A							91.0	84.0	86.0					10																	120819136		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120819136G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1421C>T	10.37:g.120819136G>A	ENSP00000358140:p.Ala474Val					EIF3A_ENST00000541549.1_Missense_Mutation_p.A440V|EIF3A_ENST00000478852.1_Intron	p.A474V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	10	1548	-		Lung NSC(174;0.094)|all_lung(145;0.123)	474			PCI.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.1421C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968666	0.92855	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.36157	1.27;1.27	5.78	5.78	0.91487	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.39020	N	0.001485	T	0.67211	0.2869	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70506	-0.4853	10	0.66056	D	0.02	-20.1385	20.0203	0.97492	0.0:0.0:1.0:0.0	.	474	Q14152	EIF3A_HUMAN	V	474;440	ENSP00000358140:A474V;ENSP00000438178:A440V	ENSP00000358140:A474V	A	-	2	0	EIF3A	120809126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.827000	0.99397	2.730000	0.93505	0.655000	0.94253	GCA		0.463	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		6	391	0	0	0	1	0	6	391				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		6	282	0	0	0	1	0	6	282				
DLEC1	9940	broad.mit.edu	37	3	38151670	38151670	+	Missense_Mutation	SNP	G	G	A	rs368500201		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:38151670G>A	ENST00000308059.6	+	23	3362	c.3341G>A	c.(3340-3342)cGc>cAc	p.R1114H	DLEC1_ENST00000346219.3_Missense_Mutation_p.R1114H|DLEC1_ENST00000452631.2_Missense_Mutation_p.R1117H					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGTGTGACTCGCCAGCTCATT	0.577																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(3340-3342)cGc>cAc		deleted in lung and esophageal cancer 1		G	HIS/ARG,HIS/ARG	1,4119		0,1,2059	119.0	129.0	126.0		3341,3341	4.1	0.0	3		126	0,8444		0,0,4222	no	missense,missense	DLEC1	NM_007335.2,NM_007337.2	29,29	0,1,6281	AA,AG,GG		0.0,0.0243,0.0080	probably-damaging,probably-damaging	1114/1756,1114/1779	38151670	1,12563	2060	4222	6282	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38151670G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3341G>A	3.37:g.38151670G>A	ENSP00000308597:p.Arg1114His					DLEC1_ENST00000452631.2_Missense_Mutation_p.R1117H|DLEC1_ENST00000346219.3_Missense_Mutation_p.R1114H	p.R1114H			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	23	3362	+			1114						Missense_Mutation	SNP	ENST00000308059.6	37	c.3341G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816516	0.70912	2.43E-4	0.0	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06768	3.27;3.26;3.52	4.97	4.06	0.47325	.	0.426070	0.24386	N	0.038972	T	0.21427	0.0516	M	0.70275	2.135	0.33358	D	0.571915	D;D;D;D	0.69078	0.961;0.997;0.962;0.961	B;P;B;B	0.56700	0.279;0.804;0.221;0.279	T	0.32719	-0.9896	10	0.42905	T	0.14	-10.3711	13.9732	0.64255	0.0:0.1535:0.8465:0.0	.	1117;1114;1114;1114	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	H	1114;1114;1117	ENSP00000308597:R1114H;ENSP00000315914:R1114H;ENSP00000410427:R1117H	ENSP00000308597:R1114H	R	+	2	0	DLEC1	38126674	0.153000	0.22777	0.018000	0.16275	0.829000	0.46940	1.973000	0.40550	1.251000	0.43983	0.655000	0.94253	CGC		0.577	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		6	1022	0	0	0	1	0	6	1022				
RLTPR	146206	broad.mit.edu	37	16	67685831	67685831	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:67685831C>T	ENST00000334583.6	+	26	2924	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	RLTPR_ENST00000545661.1_Missense_Mutation_p.R830W	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	866					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TAGGGACATGCGGCTATCAAT	0.612																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2596-2598)Cgg>Tgg		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							118.0	123.0	121.0					16																	67685831		2096	4213	6309	SO:0001583	missense	146206							g.chr16:67685831C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2596C>T	16.37:g.67685831C>T	ENSP00000334958:p.Arg866Trp					RLTPR_ENST00000545661.1_Missense_Mutation_p.R830W	p.R866W	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	26	2924	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	866					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2596C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011854	0.35511	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.14893	2.47;2.47	4.85	1.66	0.24008	.	0.149642	0.31542	N	0.007470	T	0.32376	0.0827	L	0.60455	1.87	0.32363	N	0.556953	D;D	0.89917	1.0;1.0	D;D	0.67548	0.952;0.95	T	0.40327	-0.9569	10	0.87932	D	0	-20.6548	10.4365	0.44439	0.5177:0.4823:0.0:0.0	.	830;866	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	W	866;830	ENSP00000334958:R866W;ENSP00000441481:R830W	ENSP00000334958:R866W	R	+	1	2	RLTPR	66243332	0.918000	0.31147	0.990000	0.47175	0.017000	0.09413	1.288000	0.33296	0.198000	0.20407	0.655000	0.94253	CGG		0.612	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		7	620	0	0	0	1	0	7	620				
RORB	6096	broad.mit.edu	37	9	77249648	77249648	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:77249648C>T	ENST00000396204.2	+	3	228	c.228C>T	c.(226-228)tgC>tgT	p.C76C	RORB_ENST00000376896.3_Silent_p.C65C			Q92753	RORB_HUMAN	RAR-related orphan receptor B	76					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GCCAACACTGCCGACTGCAGA	0.448																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(193-195)tgC>tgT		RAR-related orphan receptor B							85.0	79.0	81.0					9																	77249648		2203	4300	6503	SO:0001819	synonymous_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77249648C>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.228C>T	9.37:g.77249648C>T						RORB_ENST00000396204.2_Silent_p.C76C	p.C65C	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			3	807	+			76					Q8WX73	Silent	SNP	ENST00000396204.2	37	c.195C>T																																																																																					0.448	RORB-201	KNOWN	basic	protein_coding	protein_coding				6	348	0	0	0	1	0	6	348				
GRID1	2894	broad.mit.edu	37	10	88126102	88126102	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:88126102C>A	ENST00000327946.7	-	1	133	c.48G>T	c.(46-48)gtG>gtT	p.V16V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	16					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCCGCACCGACACGCACTGGC	0.751										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(46-48)gtG>gtT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						15.0	14.0	14.0					10																	88126102		2134	4176	6310	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:88126102C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.48G>T	10.37:g.88126102C>A		Multiple Myeloma(13;0.14)					p.V16V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			1	133	-			16					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.48G>T	CCDS31236.1																																																																																				0.751	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		3	37	1	0	1	1	1	3	37				
RBM14	10432	broad.mit.edu	37	11	66394132	66394132	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:66394132G>A	ENST00000310137.4	+	3	2142	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_3'UTR|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	668					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TACCAGCGCCGCATGTAGGGC	0.577																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(2002-2004)cGc>cAc		RNA binding motif protein 14							23.0	21.0	22.0					11																	66394132		2200	4295	6495	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66394132G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.2003G>A	11.37:g.66394132G>A	ENSP00000311747:p.Arg668His					RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_3'UTR|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron	p.R668H	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			3	2142	+			668					B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.2003G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734566	0.48939	.	.	ENSG00000239306	ENST00000310137	D	0.89681	-2.55	5.33	4.42	0.53409	.	0.058939	0.64402	D	0.000001	T	0.81908	0.4922	L	0.27053	0.805	0.80722	D	1	B	0.22080	0.064	B	0.12156	0.007	T	0.78730	-0.2090	10	0.87932	D	0	-0.5709	11.85	0.52405	0.0854:0.0:0.9146:0.0	.	668	Q96PK6	RBM14_HUMAN	H	668	ENSP00000311747:R668H	ENSP00000311747:R668H	R	+	2	0	RBM14	66150708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.238000	0.72350	1.267000	0.44247	0.557000	0.71058	CGC		0.577	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		5	124	0	0	0	1	0	5	124				
P2RY1	5028	broad.mit.edu	37	3	152553674	152553674	+	Missense_Mutation	SNP	G	G	A	rs144727670		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:152553674G>A	ENST00000305097.3	+	1	939	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	35					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTCCACTGCCGCCGTCTCCTC	0.632																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(103-105)Gcc>Acc		purinergic receptor P2Y, G-protein coupled, 1							62.0	56.0	58.0					3																	152553674		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152553674G>A	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.103G>A	3.37:g.152553674G>A	ENSP00000304767:p.Ala35Thr						p.A35T	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	939	+			35						Missense_Mutation	SNP	ENST00000305097.3	37	c.103G>A	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.139086	0.21205	.	.	ENSG00000169860	ENST00000305097	T	0.36520	1.25	5.37	3.47	0.39725	.	0.512740	0.20558	N	0.089973	T	0.15478	0.0373	N	0.08118	0	0.30316	N	0.788022	B	0.13594	0.008	B	0.06405	0.002	T	0.08391	-1.0724	10	0.20519	T	0.43	.	6.1079	0.20084	0.1435:0.1857:0.6708:0.0	.	35	P47900	P2RY1_HUMAN	T	35	ENSP00000304767:A35T	ENSP00000304767:A35T	A	+	1	0	P2RY1	154036364	0.307000	0.24500	0.684000	0.30055	0.027000	0.11550	1.506000	0.35747	2.493000	0.84123	0.655000	0.94253	GCC		0.632	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		5	284	0	0	0	1	0	5	284				
CHRNA9	55584	broad.mit.edu	37	4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGAAAATGTGCCCCTGATAGG	0.498																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(889-891)Ccc>Tcc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						56.0	61.0	59.0					4																	40351422		2202	4297	6499	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351422C>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.889C>T	4.37:g.40351422C>T	ENSP00000312663:p.Pro297Ser						p.P297S	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	1028	+			297					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.889C>T	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005901	0.74932	.	.	ENSG00000174343	ENST00000310169	D	0.93859	-3.3	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98107	1.0418	10	0.87932	D	0	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	297	Q9UGM1	ACHA9_HUMAN	S	297	ENSP00000312663:P297S	ENSP00000312663:P297S	P	+	1	0	CHRNA9	40046179	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCC		0.498	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			7	629	0	0	0	1	0	7	629				
TMC3	342125	broad.mit.edu	37	15	81627309	81627309	+	Silent	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:81627309G>T	ENST00000359440.5	-	21	2346	c.2211C>A	c.(2209-2211)atC>atA	p.I737I	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Silent_p.I738I|RP11-761I4.3_ENST00000560973.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCTGGGTCTGGATTCGGGCTG	0.532																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2212-2214)atC>atA		transmembrane channel-like 3							113.0	110.0	111.0					15																	81627309		2049	4203	6252	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81627309G>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2211C>A	15.37:g.81627309G>T						RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Silent_p.I737I|RP11-761I4.3_ENST00000560973.1_RNA	p.I738I			Q7Z5M5	TMC3_HUMAN			21	2349	-			737						Silent	SNP	ENST00000359440.5	37	c.2214C>A	CCDS45324.1																																																																																				0.532	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		5	199	1	0	1	1	1	5	199				
OR4C6	219432	broad.mit.edu	37	11	55433052	55433052	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:55433052G>A	ENST00000314259.3	+	1	439	c.410G>A	c.(409-411)cGg>cAg	p.R137Q		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R137L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATGAGTCCACGGGTGTGCTGC	0.512																																						ENST00000314259.3																			1	Substitution - Missense(1)	p.R137L(1)	lung(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(409-411)cGg>cAg		olfactory receptor, family 4, subfamily C, member 6							98.0	93.0	95.0					11																	55433052		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433052G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.410G>A	11.37:g.55433052G>A	ENSP00000324769:p.Arg137Gln						p.R137Q	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	439	+			137					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.410G>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	3.613	-0.079149	0.07141	.	.	ENSG00000181903	ENST00000314259	T	0.41758	0.99	3.77	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.721667	0.11263	N	0.582371	T	0.23330	0.0564	N	0.16708	0.43	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.24512	-1.0158	10	0.11182	T	0.66	.	8.8573	0.35236	0.1978:0.0:0.8022:0.0	.	137	Q8NH72	OR4C6_HUMAN	Q	137	ENSP00000324769:R137Q	ENSP00000324769:R137Q	R	+	2	0	OR4C6	55189628	0.000000	0.05858	0.014000	0.15608	0.155000	0.21991	-2.867000	0.00722	0.599000	0.29845	0.536000	0.68110	CGG		0.512	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		5	607	0	0	0	1	0	5	607				
SYNPO	11346	broad.mit.edu	37	5	150029608	150029608	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150029608G>A	ENST00000394243.1	+	3	2877	c.2503G>A	c.(2503-2505)Gcc>Acc	p.A835T	SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T|SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	835	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCTCGCCCGCCAAGCCCAG	0.667																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2503-2505)Gcc>Acc		synaptopodin							57.0	65.0	62.0					5																	150029608		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029608G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2503G>A	5.37:g.150029608G>A	ENSP00000377789:p.Ala835Thr					SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T|SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T	p.A835T	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2877	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	835			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2503G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372055	0.42003	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.24723	1.84;1.84;1.85	5.3	4.37	0.52481	.	0.271361	0.26450	N	0.024306	T	0.33265	0.0857	L	0.51422	1.61	0.29821	N	0.830848	D;D	0.65815	0.994;0.995	P;P	0.56278	0.795;0.748	T	0.09707	-1.0662	10	0.28530	T	0.3	-21.581	8.7709	0.34731	0.0:0.2979:0.5656:0.1365	.	591;835	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	T	835;835;591;591	ENSP00000377789:A835T;ENSP00000428378:A835T;ENSP00000429268:A591T	ENSP00000302139:A591T	A	+	1	0	SYNPO	150009801	0.986000	0.35501	0.939000	0.37840	0.469000	0.32828	0.835000	0.27531	2.480000	0.83734	0.462000	0.41574	GCC		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		6	538	0	0	0	1	0	6	538				
CHRNA10	57053	broad.mit.edu	37	11	3688985	3688985	+	Silent	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:3688985C>A	ENST00000250699.2	-	4	443	c.372G>T	c.(370-372)gcG>gcT	p.A124A	CHRNA10_ENST00000534359.1_5'UTR|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000493827.2_5'Flank	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	124					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CTGGAGGCTGCGCGTCGGCTC	0.751																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(370-372)gcG>gcT		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						5.0	5.0	5.0					11																	3688985		1888	3787	5675	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688985C>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.372G>T	11.37:g.3688985C>A						CHRNA10_ENST00000534359.1_5'UTR	p.A124A	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	443	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	124						Silent	SNP	ENST00000250699.2	37	c.372G>T	CCDS7745.1																																																																																				0.751	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			3	59	1	0	6.4e-05	1	7.488e-05	3	59				
TOP2B	7155	broad.mit.edu	37	3	25674236	25674236	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:25674236A>G	ENST00000264331.4	-	9	1075	c.1076T>C	c.(1075-1077)aTt>aCt	p.I359T	TOP2B_ENST00000435706.2_Missense_Mutation_p.I354T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	359					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	AACTACTTCAATCAGTTTACC	0.328																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1060-1062)aTt>aCt		topoisomerase (DNA) II beta 180kDa							155.0	152.0	153.0					3																	25674236		1859	4094	5953	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25674236A>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1076T>C	3.37:g.25674236A>G	ENSP00000264331:p.Ile359Thr					TOP2B_ENST00000264331.4_Missense_Mutation_p.I359T	p.I354T			Q02880	TOP2B_HUMAN			9	1262	-			359					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.1061T>C		.	.	.	.	.	.	.	.	.	.	A	17.51	3.408676	0.62399	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.46063	0.88;0.88	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.53561	1.675	0.80722	D	1	B	0.25048	0.117	B	0.29440	0.102	T	0.37337	-0.9710	10	0.54805	T	0.06	-15.1386	15.4062	0.74881	1.0:0.0:0.0:0.0	.	354	Q02880-2	.	T	354;359;354	ENSP00000396704:I354T;ENSP00000264331:I359T	ENSP00000264331:I359T	I	-	2	0	TOP2B	25649240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.059000	0.93902	2.032000	0.59987	0.528000	0.53228	ATT		0.328	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				11	656	0	0	0	1	0	11	656				
PDCD2L	84306	broad.mit.edu	37	19	34912428	34912428	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:34912428T>C	ENST00000246535.3	+	6	849	c.802T>C	c.(802-804)Tcc>Ccc	p.S268P	RN7SL154P_ENST00000578043.1_RNA|PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	268					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCCTAGGTATTCCTGGAGTGG	0.493																																						ENST00000246535.3																			0				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(802-804)Tcc>Ccc		programmed cell death 2-like							198.0	213.0	208.0					19																	34912428		2203	4300	6503	SO:0001583	missense	84306					cytoplasm		g.chr19:34912428T>C	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.802T>C	19.37:g.34912428T>C	ENSP00000246535:p.Ser268Pro					PDCD2L_ENST00000587065.2_5'UTR	p.S268P	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		6	849	+	Esophageal squamous(110;0.162)		268						Missense_Mutation	SNP	ENST00000246535.3	37	c.802T>C	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.486734	0.63962	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.98	4.94	0.65067	Programmed cell death protein 2, C-terminal (1);	0.144113	0.64402	D	0.000004	T	0.81451	0.4825	M	0.91196	3.185	0.41755	D	0.989686	D	0.76494	0.999	D	0.73708	0.981	D	0.83431	0.0038	9	0.48119	T	0.1	-15.8635	11.5108	0.50492	0.1347:0.0:0.0:0.8653	.	268	Q9BRP1	PDD2L_HUMAN	P	268	.	ENSP00000246535:S268P	S	+	1	0	PDCD2L	39604268	1.000000	0.71417	0.999000	0.59377	0.749000	0.42624	3.088000	0.50175	1.048000	0.40298	0.477000	0.44152	TCC		0.493	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		345	797	0	0	0	1	0	345	797				
DCTN1	1639	broad.mit.edu	37	2	74598276	74598276	+	Missense_Mutation	SNP	G	G	A	rs371723224		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:74598276G>A	ENST00000361874.3	-	9	990	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	DCTN1_ENST00000409567.3_Missense_Mutation_p.R205W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R91W|DCTN1_ENST00000394003.3_Missense_Mutation_p.R218W|DCTN1_ENST00000409240.1_Missense_Mutation_p.R188W|DCTN1_ENST00000409868.1_Missense_Mutation_p.R208W|DCTN1_ENST00000407639.2_Missense_Mutation_p.R91W	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	225					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCCAGGTCCCGCACCTGAGCC	0.557																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(673-675)Cgg>Tgg		dynactin 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	208.0	215.0	213.0		613,271,562,652,673,271	4.9	1.0	2		213	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	DCTN1	NM_001135040.2,NM_001135041.2,NM_001190836.1,NM_001190837.1,NM_004082.4,NM_023019.3	101,101,101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	205/1254,91/1140,188/1237,218/1272,225/1279,91/1145	74598276	1,13005	2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598276G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.673C>T	2.37:g.74598276G>A	ENSP00000354791:p.Arg225Trp					DCTN1_ENST00000409240.1_Missense_Mutation_p.R188W|DCTN1_ENST00000407639.2_Missense_Mutation_p.R91W|DCTN1_ENST00000394003.3_Missense_Mutation_p.R218W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R91W|DCTN1_ENST00000409868.1_Missense_Mutation_p.R208W|DCTN1_ENST00000409567.3_Missense_Mutation_p.R205W	p.R225W	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			9	990	-			225					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.673C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344297	0.82022	0.0	1.16E-4	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78481	-0.77;-0.96;-0.76;-0.76;-1.18;-0.96;-0.96	5.76	4.87	0.63330	.	0.000000	0.39834	N	0.001246	D	0.83649	0.5300	L	0.55481	1.735	0.47214	D	0.999358	D;D;D;D;D;D	0.76494	0.997;0.998;0.994;0.999;0.999;0.997	P;P;B;D;D;P	0.65140	0.711;0.849;0.353;0.918;0.932;0.556	D	0.85115	0.0965	10	0.87932	D	0	-11.0239	12.7245	0.57162	0.0:0.0:0.7008:0.2992	.	205;188;225;218;91;91	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	W	225;218;208;91;91;188;208;205	ENSP00000354791:R225W;ENSP00000377571:R218W;ENSP00000384844:R91W;ENSP00000387270:R91W;ENSP00000386406:R188W;ENSP00000387327:R208W;ENSP00000386843:R205W	ENSP00000354791:R225W	R	-	1	2	DCTN1	74451784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.263000	0.51546	1.393000	0.46605	0.655000	0.94253	CGG		0.557	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		8	1288	0	0	0	1	0	8	1288				
NCAPD2	9918	broad.mit.edu	37	12	6631057	6631057	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:6631057C>T	ENST00000315579.5	+	15	2607	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S558L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	603	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCAATATGTCGGATCCTGAG	0.483																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(1807-1809)tCg>tTg		non-SMC condensin I complex, subunit D2							107.0	102.0	104.0					12																	6631057		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6631057C>T	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1808C>T	12.37:g.6631057C>T	ENSP00000325017:p.Ser603Leu					NCAPD2_ENST00000545962.1_Missense_Mutation_p.S558L	p.S603L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			15	2607	+			603			Interactions with SMC2 and SMC4.		D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.1808C>T	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	6.832	0.522777	0.13066	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.31769	2.49;1.48;2.22	4.69	0.379	0.16213	Armadillo-type fold (1);	0.958927	0.08648	N	0.914555	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.001	T	0.30179	-0.9987	10	0.29301	T	0.29	0.0031	7.6424	0.28300	0.1363:0.5837:0.0:0.28	.	558;564;603	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	L	603;475;558;475	ENSP00000325017:S603L;ENSP00000371895:S475L;ENSP00000444417:S558L	ENSP00000325017:S603L	S	+	2	0	NCAPD2	6501318	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.426000	0.07008	-0.050000	0.13356	-1.736000	0.00690	TCG		0.483	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		7	395	0	0	0	1	0	7	395				
A1CF	29974	broad.mit.edu	37	10	52573792	52573792	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:52573792G>A	ENST00000373993.1	-	8	1216	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	A1CF_ENST00000373995.3_Missense_Mutation_p.A391V|A1CF_ENST00000395495.1_Missense_Mutation_p.A336V|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Missense_Mutation_p.A383V|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000374001.2_Missense_Mutation_p.A383V|A1CF_ENST00000395489.2_Missense_Mutation_p.A384V|A1CF_ENST00000282641.2_Missense_Mutation_p.A391V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	391	Required for nuclear localization. {ECO:0000269|PubMed:12896982}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCTCACTCCCGCAGCCCCTAC	0.468																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1150-1152)gCg>gTg		APOBEC1 complementation factor							63.0	67.0	65.0					10																	52573792		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573792G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1172C>T	10.37:g.52573792G>A	ENSP00000363105:p.Ala391Val					ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Missense_Mutation_p.A391V|A1CF_ENST00000395495.1_Missense_Mutation_p.A336V|A1CF_ENST00000374001.1_Missense_Mutation_p.A383V|A1CF_ENST00000282641.2_Missense_Mutation_p.A391V|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.A391V|A1CF_ENST00000373997.3_Missense_Mutation_p.A383V	p.A384V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			12	1547	-			391			Required for nuclear localization.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1151C>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	G	33	5.291289	0.95546	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.14266	2.69;2.69;2.69;2.68;2.69;2.52;2.69	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.997;0.964;1.0;0.997	P;B;D;D	0.66084	0.806;0.355;0.941;0.922	T	0.00516	-1.1694	10	0.39692	T	0.17	-7.0078	17.713	0.88327	0.0:0.0:1.0:0.0	.	384;391;383;391	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	V	383;391;383;391;391;336;366;384	ENSP00000363113:A383V;ENSP00000363105:A391V;ENSP00000363109:A383V;ENSP00000363107:A391V;ENSP00000282641:A391V;ENSP00000378873:A336V;ENSP00000378868:A384V	ENSP00000282641:A391V	A	-	2	0	A1CF	52243798	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.230000	0.95299	2.780000	0.95670	0.655000	0.94253	GCG		0.468	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		5	347	0	0	0	1	0	5	347				
PAMR1	25891	broad.mit.edu	37	11	35513689	35513689	+	Nonsense_Mutation	SNP	G	G	A	rs368867348		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:35513689G>A	ENST00000378880.2	-	3	728	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R55*|PAMR1_ENST00000378878.3_Nonsense_Mutation_p.R95*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	95						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAGCCATTTCGGCAGCTCTTG	0.522																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(283-285)Cga>Tga		peptidase domain containing associated with muscle regeneration 1		G	stop/ARG,stop/ARG	1,4403	2.1+/-5.4	0,1,2201	183.0	179.0	181.0		283,283	3.1	1.0	11		181	0,8596		0,0,4298	no	stop-gained,stop-gained	PAMR1	NM_001001991.1,NM_015430.2	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	95/721,95/738	35513689	1,12999	2202	4298	6500	SO:0001587	stop_gained	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513689G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.283C>T	11.37:g.35513689G>A	ENSP00000368158:p.Arg95*					PAMR1_ENST00000532848.1_Nonsense_Mutation_p.R55*|PAMR1_ENST00000378878.3_Nonsense_Mutation_p.R95*|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Nonsense_Mutation_p.R95*	p.R95*	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	728	-			95					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Nonsense_Mutation	SNP	ENST00000378880.2	37	c.283C>T	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	41	9.063677	0.99053	2.27E-4	0.0	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	.	.	.	5.05	3.08	0.35506	.	0.459441	0.22469	N	0.059650	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6536	0.56776	0.0:0.0:0.5742:0.4258	.	.	.	.	X	95;95;95;55;55;95	.	ENSP00000278360:R95X	R	-	1	2	PAMR1	35470265	1.000000	0.71417	0.978000	0.43139	0.911000	0.54048	3.430000	0.52807	0.471000	0.27319	0.491000	0.48974	CGA		0.522	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		299	738	0	0	0	1	0	299	738				
OR2Y1	134083	broad.mit.edu	37	5	180166545	180166545	+	Nonsense_Mutation	SNP	G	G	A	rs372667309		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:180166545G>A	ENST00000307832.2	-	1	554	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGATTCAGTCGATGGCCACAG	0.542																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(514-516)Cga>Tga		olfactory receptor, family 2, subfamily Y, member 1		G	stop/ARG	0,4406		0,0,2203	60.0	54.0	56.0		514	2.6	0.0	5		56	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR2Y1	NM_001001657.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		172/312	180166545	1,13005	2203	4300	6503	SO:0001587	stop_gained	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166545G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.514C>T	5.37:g.180166545G>A	ENSP00000312403:p.Arg172*						p.R172*	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	554	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	172					B9EIP1|Q6IFB1|Q96R16	Nonsense_Mutation	SNP	ENST00000307832.2	37	c.514C>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.327676	0.60743	0.0	1.16E-4	ENSG00000174339	ENST00000307832	.	.	.	4.41	2.59	0.31030	.	3.529880	0.00714	N	0.000849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0741	0.25195	0.0936:0.0:0.7351:0.1713	.	.	.	.	X	172	.	ENSP00000312403:R172X	R	-	1	2	OR2Y1	180099151	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.967000	0.01508	0.572000	0.29383	0.511000	0.50034	CGA		0.542	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		79	147	0	0	0	1	0	79	147				
ZNF407	55628	broad.mit.edu	37	18	72775723	72775723	+	Missense_Mutation	SNP	G	G	A	rs546961134		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:72775723G>A	ENST00000299687.5	+	8	6046	c.6046G>A	c.(6046-6048)Gcc>Acc	p.A2016T		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2016					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAGGCCCGGCGCCAAAGACGT	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15254	0.0		0.0	False		,,,				2504	0.0					ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(6046-6048)Gcc>Acc		zinc finger protein 407							17.0	23.0	21.0					18																	72775723		2094	4209	6303	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775723G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6046G>A	18.37:g.72775723G>A	ENSP00000299687:p.Ala2016Thr						p.A2016T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	6046	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	2016					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.6046G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	5.777	0.327690	0.10956	.	.	ENSG00000215421	ENST00000299687	T	0.09538	2.97	4.7	2.79	0.32731	.	.	.	.	.	T	0.05823	0.0152	N	0.03608	-0.345	0.21782	N	0.999542	B	0.20988	0.05	B	0.14023	0.01	T	0.42498	-0.9448	9	0.34782	T	0.22	.	14.2177	0.65805	0.0:0.7125:0.2875:0.0	.	2016	Q9C0G0	ZN407_HUMAN	T	2016	ENSP00000299687:A2016T	ENSP00000299687:A2016T	A	+	1	0	ZNF407	70904711	0.015000	0.18098	0.002000	0.10522	0.021000	0.10359	2.667000	0.46808	-1.327000	0.02264	0.561000	0.74099	GCC		0.672	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		4	113	0	0	0	1	0	4	113				
ITPR1	3708	broad.mit.edu	37	3	4722339	4722339	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:4722339G>A	ENST00000443694.2	+	22	3025	c.3025G>A	c.(3025-3027)Gga>Aga	p.G1009R	ITPR1_ENST00000423119.2_Missense_Mutation_p.G1015R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1024R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1009R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1015R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1000R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1024					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AACATCCTCCGGAAACAGCAG	0.433																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(3070-3072)Gga>Aga		inositol 1,4,5-trisphosphate receptor, type 1							61.0	60.0	60.0					3																	4722339		1876	4104	5980	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4722339G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3025G>A	3.37:g.4722339G>A	ENSP00000401671:p.Gly1009Arg					ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1009R|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1000R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1015R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1015R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1009R	p.G1024R			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	25	3420	+			1024					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.3070G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700462	0.48307	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.56	5.56	0.83823	.	0.236966	0.43260	D	0.000598	T	0.50735	0.1633	M	0.69358	2.11	0.80722	D	1	B;B;P	0.36837	0.308;0.311;0.571	B;B;B	0.32090	0.027;0.02;0.14	T	0.50320	-0.8842	10	0.26408	T	0.33	.	17.7004	0.88293	0.0:0.0:1.0:0.0	.	1009;1024;1015	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	R	1024;1009;1024;1015;1015;1000;1009	ENSP00000306253:G1009R;ENSP00000346595:G1024R;ENSP00000405934:G1015R;ENSP00000349597:G1015R;ENSP00000397885:G1000R;ENSP00000401671:G1009R	ENSP00000306253:G1009R	G	+	1	0	ITPR1	4697339	1.000000	0.71417	0.968000	0.41197	0.959000	0.62525	6.688000	0.74557	2.599000	0.87857	0.591000	0.81541	GGA		0.433	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		65	128	0	0	0	1	0	65	128				
RASIP1	54922	broad.mit.edu	37	19	49224157	49224157	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:49224157C>T	ENST00000222145.4	-	12	2994	c.2790G>A	c.(2788-2790)ttG>ttA	p.L930L	MAMSTR_ENST00000377367.3_5'Flank|MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000318083.6_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	930					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GTTCACGGTGCAAGGCATCGT	0.652																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(2788-2790)ttG>ttA		Ras interacting protein 1							54.0	54.0	54.0					19																	49224157		2203	4300	6503	SO:0001819	synonymous_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49224157C>T	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2790G>A	19.37:g.49224157C>T							p.L930L	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	12	2994	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	930					Q6U676	Silent	SNP	ENST00000222145.4	37	c.2790G>A	CCDS12731.1																																																																																				0.652	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		5	313	0	0	0	1	0	5	313				
ZNF83	55769	broad.mit.edu	37	19	53122219	53122219	+	5'UTR	SNP	A	A	G	rs10402820	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:53122219A>G	ENST00000544146.1	-	0	264				ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000541777.2_5'Flank|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000594682.2_Silent_p.L38L|ZNF83_ENST00000597161.1_Silent_p.L38L|ZNF83_ENST00000601257.1_Silent_p.L38L|ZNF83_ENST00000600714.1_Silent_p.L38L|ZNF83_ENST00000596930.1_Silent_p.L38L|ZNF83_ENST00000536937.1_5'UTR	NM_001105549.1	NP_001099019.1	P51522	ZNF83_HUMAN	zinc finger protein 83						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TAATTCTCCAACATCACATCT	0.468													N|||	845	0.16873	0.2943	0.1484	5008	,	,		16632	0.0278		0.2217	False		,,,				2504	0.1043					ENST00000600714.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(112-114)Ttg>Ctg		zinc finger protein 83																																				SO:0001623	5_prime_UTR_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53122219A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000544146.1:c.-478T>C	19.37:g.53122219A>G						ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000601257.1_Silent_p.L38L|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000597161.1_Silent_p.L38L|ZNF83_ENST00000596930.1_Silent_p.L38L	p.L38L			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	4	394	-			0					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000544146.1	37	c.112T>C	CCDS12854.1																																																																																				0.468	ZNF83-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018300		6	634	0	0	0	1	0	6	634				
AHNAK2	113146	broad.mit.edu	37	14	105413154	105413154	+	Silent	SNP	G	G	A	rs533202251	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:105413154G>A	ENST00000333244.5	-	7	8753	c.8634C>T	c.(8632-8634)gaC>gaT	p.D2878D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2878						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGTTTCACGTCCACCTGGC	0.617													.|||	8	0.00159744	0.0008	0.0	5008	,	,		17980	0.0069		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8632-8634)gaC>gaT		AHNAK nucleoprotein 2							120.0	131.0	127.0					14																	105413154		1923	4125	6048	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413154G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8634C>T	14.37:g.105413154G>A						AHNAK2_ENST00000557457.1_Intron	p.D2878D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8753	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2878					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8634C>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	1305	0	0	0	1	0	9	1305				
TRIM3	10612	broad.mit.edu	37	11	6472245	6472245	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:6472245C>T	ENST00000525074.1	-	9	2141	c.1747G>A	c.(1747-1749)Gta>Ata	p.V583I	TRIM3_ENST00000536344.1_Missense_Mutation_p.V464I|TRIM3_ENST00000359518.3_Missense_Mutation_p.V583I|TRIM3_ENST00000345851.3_Missense_Mutation_p.V583I|TRIM3_ENST00000537602.1_Missense_Mutation_p.V505I	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	583					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCGGTCTACGGCCACTCCC	0.537																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1747-1749)Gta>Ata		tripartite motif containing 3							59.0	56.0	57.0					11																	6472245		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6472245C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1747G>A	11.37:g.6472245C>T	ENSP00000433102:p.Val583Ile					TRIM3_ENST00000537602.1_Missense_Mutation_p.V505I|TRIM3_ENST00000536344.1_Missense_Mutation_p.V464I|TRIM3_ENST00000359518.3_Missense_Mutation_p.V583I|TRIM3_ENST00000345851.3_Missense_Mutation_p.V583I	p.V583I	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	9	2141	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	583					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.1747G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536636	0.85812	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.25	4.34	0.51931	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	M	0.64997	1.995	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86060	0.1531	10	0.39692	T	0.17	-13.7451	12.7769	0.57453	0.0:0.9209:0.0:0.0791	.	464;583	F5H2Q8;O75382	.;TRIM3_HUMAN	I	583;583;583;583;572;505;583;464	ENSP00000433102:V583I;ENSP00000340797:V583I;ENSP00000441091:V505I;ENSP00000352508:V583I;ENSP00000445460:V464I	ENSP00000337094:V572I	V	-	1	0	TRIM3	6428821	1.000000	0.71417	0.866000	0.34008	0.978000	0.69477	7.651000	0.83577	1.450000	0.47717	0.563000	0.77884	GTA		0.537	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		5	351	0	0	0	1	0	5	351				
CRTAC1	55118	broad.mit.edu	37	10	99696061	99696061	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:99696061G>A	ENST00000370597.3	-	3	642	c.287C>T	c.(286-288)gCg>gTg	p.A96V	CRTAC1_ENST00000298819.4_Missense_Mutation_p.A96V|CRTAC1_ENST00000370591.2_Missense_Mutation_p.A96V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	96						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCATCGACCGCGATGTTCAC	0.662																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(286-288)gCg>gTg		cartilage acidic protein 1							59.0	50.0	53.0					10																	99696061		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696061G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.287C>T	10.37:g.99696061G>A	ENSP00000359629:p.Ala96Val					CRTAC1_ENST00000370591.2_Missense_Mutation_p.A96V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A96V	p.A96V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	642	-		Colorectal(252;0.24)	96					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.287C>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184476	0.78677	.	.	ENSG00000095713	ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.91635	0.704;0.999	T	0.43523	-0.9386	10	0.27785	T	0.31	-10.778	17.7665	0.88480	0.0:0.0:1.0:0.0	.	96;96	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	V	96;96;88;96	ENSP00000359629:A96V;ENSP00000298819:A96V;ENSP00000310810:A88V;ENSP00000359623:A96V	ENSP00000298819:A96V	A	-	2	0	CRTAC1	99686051	1.000000	0.71417	0.892000	0.35008	0.640000	0.38277	9.725000	0.98778	2.204000	0.70986	0.313000	0.20887	GCG		0.662	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		64	204	0	0	0	1	0	64	204				
TPTE2	93492	broad.mit.edu	37	13	20048099	20048099	+	Missense_Mutation	SNP	C	C	G	rs201242841		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:20048099C>G	ENST00000400230.2	-	6	391	c.347G>C	c.(346-348)gGc>gCc	p.G116A	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	116					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G116A(1)|p.G79A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAATAAGCCAATAGCTAG	0.343																																						ENST00000400230.2																			2	Substitution - Missense(2)	p.G116A(1)|p.G79A(1)	endometrium(2)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(346-348)gGc>gCc		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							50.0	56.0	54.0					13																	20048099		2201	4296	6497	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048099C>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.347G>C	13.37:g.20048099C>G	ENSP00000383089:p.Gly116Ala					TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A	p.G116A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	6	391	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	116					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.347G>C	CCDS45014.1	252	0.11538461538461539	36	0.07317073170731707	19	0.052486187845303865	102	0.17832167832167833	95	0.12532981530343007	c	0	-2.627908	0.00115	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.98329	-4.32;-4.87;-4.32;-4.32;-4.87;-4.32	2.33	-2.37	0.06643	Ion transport (1);	0.296377	0.32503	N	0.006020	T	0.00695	0.0023	N	0.00104	-2.125	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71702	-0.4513	9	.	.	.	-8.0858	6.9032	0.24295	0.0:0.5353:0.283:0.1817	.	79;116	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	A	116;116;79;79;116;116;116	ENSP00000372438:G116A;ENSP00000383089:G116A;ENSP00000255310:G79A;ENSP00000375098:G79A;ENSP00000372437:G116A;ENSP00000372435:G116A	.	G	-	2	0	TPTE2	18946099	0.991000	0.36638	0.001000	0.08648	0.000000	0.00434	1.799000	0.38824	-0.680000	0.05211	-1.933000	0.00509	GGC		0.343	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		5	605	0	0	0	1	0	5	605				
AMER1	139285	broad.mit.edu	37	X	63409864	63409864	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:63409864G>T	ENST00000330258.3	-	2	3575	c.3303C>A	c.(3301-3303)caC>caA	p.H1101Q	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1101	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									AAGGCCCATAGTGAGTGGGCT	0.622																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(3301-3303)caC>caA		APC membrane recruitment protein 1							13.0	14.0	13.0					X																	63409864		1968	4124	6092	SO:0001583	missense	139285							g.chrX:63409864G>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3303C>A	X.37:g.63409864G>T	ENSP00000329117:p.His1101Gln					AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.H1101Q	NM_152424.3	NP_689637.3					2	3575	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.3303C>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109323	0.56398	.	.	ENSG00000184675	ENST00000330258	T	0.46063	0.88	4.81	2.92	0.33932	.	.	.	.	.	T	0.25827	0.0629	L	0.27053	0.805	0.80722	D	1	B	0.18461	0.028	B	0.16722	0.016	T	0.05178	-1.0901	8	.	.	.	-6.6314	7.144	0.25573	0.1019:0.1711:0.727:0.0	.	1101	Q5JTC6	F123B_HUMAN	Q	1101	ENSP00000329117:H1101Q	.	H	-	3	2	FAM123B	63326589	0.578000	0.26717	0.972000	0.41901	0.844000	0.47949	0.452000	0.21795	1.159000	0.42565	0.436000	0.28706	CAC		0.622	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		3	45	1	0	1	1	1	3	45				
COL24A1	255631	broad.mit.edu	37	1	86590761	86590761	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:86590761C>T	ENST00000370571.2	-	3	1624	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	420					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.E420*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCATGAGTTCGTTAGTGTGT	0.358																																						ENST00000370571.2																			1	Substitution - Nonsense(1)	p.E420*(1)	upper_aerodigestive_tract(1)	NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1258-1260)Gaa>Aaa		collagen, type XXIV, alpha 1							154.0	130.0	137.0					1																	86590761		1866	4104	5970	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590761C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1258G>A	1.37:g.86590761C>T	ENSP00000359603:p.Glu420Lys					COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1624	-			420					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1258G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.026954	0.19512	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.11821	2.74;2.74	5.45	3.24	0.37175	.	0.000000	0.40640	N	0.001059	T	0.02418	0.0074	N	0.19112	0.55	0.35766	D	0.820548	B;B	0.27791	0.189;0.046	B;B	0.25506	0.061;0.005	T	0.29119	-1.0022	10	0.07990	T	0.79	.	10.6098	0.45415	0.0:0.8214:0.0:0.1786	.	420;420	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	420	ENSP00000359603:E420K;ENSP00000392531:E420K	ENSP00000359603:E420K	E	-	1	0	COL24A1	86363349	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.119000	0.41958	1.307000	0.44944	0.563000	0.77884	GAA		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		127	185	0	0	0	1	0	127	185				
DIDO1	11083	broad.mit.edu	37	20	61522358	61522358	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:61522358G>A	ENST00000266070.4	-	15	3820	c.3495C>T	c.(3493-3495)agC>agT	p.S1165S	DIDO1_ENST00000395335.2_Silent_p.S1165S|DIDO1_ENST00000395340.1_Silent_p.S1165S|DIDO1_ENST00000395343.1_Silent_p.S1165S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1165					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCCTGGGCGCTCAGCGGGA	0.577																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3493-3495)agC>agT		death inducer-obliterator 1							98.0	96.0	97.0					20																	61522358		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61522358G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3495C>T	20.37:g.61522358G>A						DIDO1_ENST00000395340.1_Silent_p.S1165S|DIDO1_ENST00000395335.2_Silent_p.S1165S|DIDO1_ENST00000395343.1_Silent_p.S1165S	p.S1165S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			15	3820	-	Breast(26;5.68e-08)		1165					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.3495C>T	CCDS33506.1																																																																																				0.577	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		5	321	0	0	0	1	0	5	321				
ITGAD	3681	broad.mit.edu	37	16	31424527	31424527	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:31424527C>T	ENST00000389202.2	+	16	2005	c.1956C>T	c.(1954-1956)acC>acT	p.T652T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	652					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGACGCCACCGTCTGTCTCA	0.607																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1954-1956)acC>acT		integrin, alpha D							109.0	98.0	101.0					16																	31424527		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31424527C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1956C>T	16.37:g.31424527C>T							p.T652T	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			16	2005	+			652					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.1956C>T	CCDS32438.1																																																																																				0.607	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		8	444	0	0	0	1	0	8	444				
CCL8	6355	broad.mit.edu	37	17	32647821	32647821	+	Splice_Site	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:32647821C>T	ENST00000394620.1	+	3	661	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	65					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TCCCCCACAGCTTCAAGACCA	0.512																																						ENST00000394620.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.e3-1		chemokine (C-C motif) ligand 8							70.0	59.0	63.0					17																	32647821		2203	4300	6503	SO:0001630	splice_region_variant	6355				calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	g.chr17:32647821C>T	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.195-1C>T	17.37:g.32647821C>T							p.I65_splice	NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN			3	661	+		Ovarian(249;0.0443)|Breast(31;0.151)	65					A0AV77|P78388	Splice_Site	SNP	ENST00000394620.1	37	c.194_splice	CCDS11280.1																																																																																				0.512	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623	Silent	40	76	0	0	0	1	0	40	76				
FLT3	2322	broad.mit.edu	37	13	28608126	28608126	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:28608126T>C	ENST00000241453.7	-	15	1921	c.1840A>G	c.(1840-1842)Aag>Gag	p.K614E	FLT3_ENST00000380982.4_Missense_Mutation_p.K614E|FLT3_ENST00000537084.1_Missense_Mutation_p.K614E	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G613_K614ins33(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTAGTACCTTCCCTGCAAAG	0.403			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		1	Insertion - In frame(1)	p.G613_K614ins33(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1840-1842)Aag>Gag		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						232.0	213.0	220.0					13																	28608126		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608126T>C	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1840A>G	13.37:g.28608126T>C	ENSP00000241453:p.Lys614Glu					FLT3_ENST00000241453.7_Missense_Mutation_p.K614E|FLT3_ENST00000537084.1_Missense_Mutation_p.K614E	p.K614E			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	15	1921	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	614			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1840A>G	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322140	0.41096	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.88975	-2.45;-2.45;-2.45	5.93	3.62	0.41486	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.170289	0.42053	D	0.000764	T	0.81833	0.4906	N	0.21448	0.665	0.33657	D	0.609189	B;B	0.20261	0.043;0.0	B;B	0.20384	0.029;0.001	T	0.82849	-0.0254	10	0.72032	D	0.01	.	12.8764	0.57991	0.0:0.0:0.3859:0.6141	.	614;614	P36888-2;P36888	.;FLT3_HUMAN	E	614	ENSP00000241453:K614E;ENSP00000370369:K614E;ENSP00000438139:K614E	ENSP00000241453:K614E	K	-	1	0	FLT3	27506126	0.935000	0.31712	0.999000	0.59377	0.861000	0.49209	1.401000	0.34589	1.059000	0.40554	-0.291000	0.09656	AAG		0.403	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			8	908	0	0	0	1	0	8	908				
ITGA6	3655	broad.mit.edu	37	2	173333979	173333979	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:173333979T>A	ENST00000264106.6	+	4	717	c.514T>A	c.(514-516)Tgg>Agg	p.W172R	ITGA6_ENST00000264107.7_Missense_Mutation_p.W172R|ITGA6_ENST00000375221.2_Missense_Mutation_p.W172R|ITGA6_ENST00000343713.4_Missense_Mutation_p.W172R|ITGA6_ENST00000409080.1_Missense_Mutation_p.W172R|ITGA6_ENST00000409532.1_Missense_Mutation_p.W58R			P23229	ITA6_HUMAN	integrin, alpha 6	172					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGGGGGAGATTGGAGCTTTTG	0.448																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(514-516)Tgg>Agg		integrin, alpha 6							176.0	169.0	171.0					2																	173333979		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173333979T>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.514T>A	2.37:g.173333979T>A	ENSP00000264106:p.Trp172Arg					ITGA6_ENST00000264106.6_Missense_Mutation_p.W172R|ITGA6_ENST00000264107.7_Missense_Mutation_p.W172R|ITGA6_ENST00000409532.1_Missense_Mutation_p.W58R|ITGA6_ENST00000343713.4_Missense_Mutation_p.W172R|ITGA6_ENST00000409080.1_Missense_Mutation_p.W172R	p.W172R			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		4	717	+			172					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.514T>A		.	.	.	.	.	.	.	.	.	.	T	18.32	3.597715	0.66332	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	M	0.77406	2.37	0.80722	D	1	B;B;P	0.43578	0.313;0.448;0.811	B;P;P	0.54346	0.279;0.55;0.749	T	0.66748	-0.5845	10	0.33141	T	0.24	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	172;172;172	P23229-4;G5E9H1;P23229-2	.;.;.	R	58;58;172;172;172;172;172;172;172	ENSP00000413470:W58R;ENSP00000386614:W58R;ENSP00000264107:W172R;ENSP00000264106:W172R;ENSP00000364369:W172R;ENSP00000341078:W172R;ENSP00000386896:W172R;ENSP00000406694:W172R;ENSP00000394169:W172R	ENSP00000264106:W172R	W	+	1	0	ITGA6	173042225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TGG		0.448	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				223	509	0	0	0	1	0	223	509				
LRRC27	80313	broad.mit.edu	37	10	134165159	134165159	+	Silent	SNP	G	G	A	rs147065829		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:134165159G>A	ENST00000368614.3	+	7	1080	c.975G>A	c.(973-975)ccG>ccA	p.P325P	LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000392638.2_Missense_Mutation_p.R357H|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368615.3_Silent_p.P325P	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	325										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1069-1071)cGt>cAt		leucine rich repeat containing 27		G	,,HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	138.0	151.0	146.0		975,975,1070,975	-8.8	0.0	10	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,missense,coding-synonymous	LRRC27	NM_001143757.1,NM_001143758.1,NM_001143759.1,NM_030626.2	,,29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	325/531,325/384,357/384,325/531	134165159	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80313							g.chr10:134165159G>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.975G>A	10.37:g.134165159G>A						LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000368614.3_Silent_p.P325P|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Silent_p.P263P|LRRC27_ENST00000368610.3_Silent_p.P263P	p.R357H			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	1265	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	0					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1070G>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925167	0.52759	2.27E-4	0.0	ENSG00000148814	ENST00000392638;ENST00000344079	T;T	0.19394	2.15;2.15	4.41	-8.83	0.00806	.	.	.	.	.	T	0.10508	0.0257	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25187	-1.0139	8	0.48119	T	0.1	1.3643	3.1131	0.06365	0.4867:0.1876:0.231:0.0947	.	357	Q9C0I9-3	.	H	357	ENSP00000376413:R357H;ENSP00000342641:R357H	ENSP00000342641:R357H	R	+	2	0	LRRC27	134015149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.965000	0.00670	-2.911000	0.00308	-1.020000	0.02445	CGT		0.527	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		7	1282	0	0	0	1	0	7	1282				
OR51Q1	390061	broad.mit.edu	37	11	5443794	5443794	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:5443794G>A	ENST00000300778.4	+	1	454	c.364G>A	c.(364-366)Gtt>Att	p.V122I	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTATGTCCGTTGACTGCTA	0.478																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(364-366)Gtt>Att		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							223.0	189.0	201.0					11																	5443794		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443794G>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.364G>A	11.37:g.5443794G>A	ENSP00000300778:p.Val122Ile					HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	p.V122I	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	454	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	122					B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.364G>A	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343069	0.24339	.	.	ENSG00000167360	ENST00000300778	T	0.00892	5.57	5.0	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.374552	0.23494	N	0.047575	T	0.00754	0.0025	N	0.08118	0	0.20196	N	0.999926	B	0.09022	0.002	B	0.01281	0.0	T	0.49688	-0.8913	10	0.62326	D	0.03	.	10.6278	0.45519	0.0:0.0:0.3051:0.6949	.	122	Q8NH59	O51Q1_HUMAN	I	122	ENSP00000300778:V122I	ENSP00000300778:V122I	V	+	1	0	OR51Q1	5400370	0.016000	0.18221	1.000000	0.80357	0.604000	0.37047	1.074000	0.30703	0.911000	0.36747	-2.108000	0.00357	GTT		0.478	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		7	786	0	0	0	1	0	7	786				
TOR1AIP1	26092	broad.mit.edu	37	1	179851826	179851826	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:179851826G>A	ENST00000606911.2	+	1	380	c.189G>A	c.(187-189)ccG>ccA	p.P63P	TOR1AIP1_ENST00000435319.4_5'Flank|TOR1AIP1_ENST00000271583.3_Silent_p.P63P|TOR1AIP1_ENST00000528443.2_Silent_p.P63P|RP11-533E19.7_ENST00000610272.1_lincRNA			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	63					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CGGACGAGCCGCCAGAAGTGT	0.647																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(187-189)ccG>ccA		torsin A interacting protein 1							31.0	36.0	35.0					1																	179851826		2202	4300	6502	SO:0001819	synonymous_variant	26092					integral to membrane|nuclear inner membrane		g.chr1:179851826G>A		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.189G>A	1.37:g.179851826G>A						TOR1AIP1_ENST00000271583.3_Silent_p.P63P	p.P63P	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			1	380	+			63					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	ENST00000606911.2	37	c.189G>A	CCDS1335.1																																																																																				0.647	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		5	252	0	0	0	1	0	5	252				
MINA	84864	broad.mit.edu	37	3	97669652	97669652	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:97669652C>T	ENST00000333396.7	-	6	1448	c.866G>A	c.(865-867)gGc>gAc	p.G289D	MINA_ENST00000394198.2_Missense_Mutation_p.G289D|MINA_ENST00000360258.4_Missense_Mutation_p.G289D	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCGGGGTATGCCGGTCCGTAA	0.532																																						ENST00000333396.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(865-867)gGc>gAc		MYC induced nuclear antigen							90.0	83.0	85.0					3																	97669652		2203	4300	6503	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97669652C>T	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.866G>A	3.37:g.97669652C>T	ENSP00000328251:p.Gly289Asp					MINA_ENST00000394198.2_Missense_Mutation_p.G289D|MINA_ENST00000360258.4_Missense_Mutation_p.G289D	p.G289D	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN			6	1448	-			289						Missense_Mutation	SNP	ENST00000333396.7	37	c.866G>A	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666304	0.88251	.	.	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.18502	2.21;2.21;2.21	5.91	5.91	0.95273	Cupin, JmjC-type (1);	0.044809	0.85682	D	0.000000	T	0.47820	0.1466	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	T	0.32561	-0.9902	10	0.22109	T	0.4	-16.5243	20.2985	0.98592	0.0:1.0:0.0:0.0	.	289;289	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	D	35;289;289;289	ENSP00000328251:G289D;ENSP00000377748:G289D;ENSP00000353395:G289D	ENSP00000328251:G289D	G	-	2	0	MINA	99152342	1.000000	0.71417	0.955000	0.39395	0.680000	0.39746	6.189000	0.72051	2.793000	0.96121	0.655000	0.94253	GGC		0.532	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		7	408	0	0	0	1	0	7	408				
TP53BP2	7159	broad.mit.edu	37	1	223968597	223968597	+	Splice_Site	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:223968597C>A	ENST00000343537.7	-	18	3655		c.e18-1		TP53BP2_ENST00000391879.2_Splice_Site|TP53BP2_ENST00000498843.1_Splice_Site|TP53BP2_ENST00000391878.2_Splice_Site	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2						cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTGGGTACAGCTGCAAGAGAG	0.333																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.e19-1		tumor protein p53 binding protein, 2							85.0	86.0	85.0					1																	223968597		2203	4300	6503	SO:0001630	splice_region_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223968597C>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3364-1G>T	1.37:g.223968597C>A						TP53BP2_ENST00000343537.7_Splice_Site|TP53BP2_ENST00000498843.1_Splice_Site|TP53BP2_ENST00000391879.2_Splice_Site		NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	19	3745	-								B4DG66|Q12892|Q86X75|Q96KQ3	Splice_Site	SNP	ENST00000343537.7	37		CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791570	0.70452	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7152	0.96115	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53BP2	222035220	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.445000	0.80570	2.733000	0.93635	0.591000	0.81541	.		0.333	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426	Intron	5	446	1	0	1	1	1	5	446				
OR51E1	143503	broad.mit.edu	37	11	4673891	4673891	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:4673891C>A	ENST00000396952.5	+	2	785	c.135C>A	c.(133-135)aaC>aaA	p.N45K	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTAGGTAACTTGACAATCA	0.468																																						ENST00000396952.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(133-135)aaC>aaA		olfactory receptor, family 51, subfamily E, member 1							234.0	174.0	194.0					11																	4673891		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4673891C>A	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.135C>A	11.37:g.4673891C>A	ENSP00000380155:p.Asn45Lys					OR51E1_ENST00000530215.1_Intron	p.N45K	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	785	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	44					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.135C>A	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643415	0.47258	.	.	ENSG00000180785	ENST00000396952	D	0.96619	-4.07	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	D	0.99036	0.9670	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98951	1.0794	10	0.87932	D	0	.	16.7377	0.85451	0.0:1.0:0.0:0.0	.	44	Q8TCB6	O51E1_HUMAN	K	45	ENSP00000380155:N45K	ENSP00000380155:N45K	N	+	3	2	OR51E1	4630467	0.003000	0.15002	0.993000	0.49108	0.476000	0.33039	0.203000	0.17315	2.530000	0.85305	0.655000	0.94253	AAC		0.468	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		5	506	1	0	0.000602214	1	0.000690775	5	506				
KRT76	51350	broad.mit.edu	37	12	53170909	53170909	+	Missense_Mutation	SNP	C	C	T	rs575967584		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:53170909C>T	ENST00000332411.2	-	1	220	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	56	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTAGAGGCTGCGACTGCCAAA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15710	0.0		0.0	False		,,,				2504	0.0					ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(166-168)cGc>cAc		keratin 76							79.0	101.0	94.0					12																	53170909		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170909C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.167G>A	12.37:g.53170909C>T	ENSP00000330101:p.Arg56His						p.R56H	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			1	220	-			56			Head.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.167G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	c	12.34	1.910085	0.33721	.	.	ENSG00000185069	ENST00000332411	D	0.85702	-2.02	4.47	-4.05	0.03998	.	0.938675	0.08869	N	0.881819	T	0.78509	0.4294	L	0.53729	1.69	0.19300	N	0.999972	B	0.13594	0.008	B	0.06405	0.002	T	0.64179	-0.6468	10	0.56958	D	0.05	.	7.6108	0.28129	0.1102:0.3299:0.0:0.5599	.	56	Q01546	K22O_HUMAN	H	56	ENSP00000330101:R56H	ENSP00000330101:R56H	R	-	2	0	KRT76	51457176	0.000000	0.05858	0.033000	0.17914	0.907000	0.53573	-0.101000	0.10973	-0.905000	0.03871	0.555000	0.69702	CGC		0.672	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		5	565	0	0	0	1	0	5	565				
PUF60	22827	broad.mit.edu	37	8	144900700	144900700	+	Missense_Mutation	SNP	G	G	A	rs369414220		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:144900700G>A	ENST00000526683.1	-	6	908	c.353C>T	c.(352-354)gCg>gTg	p.A118V	PUF60_ENST00000313352.7_Missense_Mutation_p.A58V|PUF60_ENST00000349157.6_Missense_Mutation_p.A101V|PUF60_ENST00000453551.2_Missense_Mutation_p.A75V|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Missense_Mutation_p.A89V|PUF60_ENST00000527197.1_Missense_Mutation_p.A72V	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	118	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGCTGAGCCGCCATCTGCAG	0.692																																						ENST00000526683.1																			0				NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14						c.(352-354)gCg>gTg		poly-U binding splicing factor 60KDa		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4044		0,0,2022	9.0	12.0	11.0		224,302,353	4.1	1.0	8		11	1,8303		0,1,4151	no	missense,missense,missense	PUF60	NM_001136033.1,NM_014281.3,NM_078480.1	64,64,64	0,1,6173	AA,AG,GG		0.012,0.0,0.0081	benign,benign,benign	75/517,101/543,118/560	144900700	1,12347	2022	4152	6174	SO:0001583	missense	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144900700G>A	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.353C>T	8.37:g.144900700G>A	ENSP00000434359:p.Ala118Val					PUF60_ENST00000527197.1_Missense_Mutation_p.A72V|PUF60_ENST00000453551.2_Missense_Mutation_p.A75V|PUF60_ENST00000313352.7_Missense_Mutation_p.A58V|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Missense_Mutation_p.A89V|PUF60_ENST00000349157.6_Missense_Mutation_p.A101V	p.A118V	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		6	908	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		118			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	ENST00000526683.1	37	c.353C>T	CCDS47934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.807918|3.807918	0.70797|0.70797	0.0|0.0	1.2E-4|1.2E-4	ENSG00000179950|ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197;ENST00000526459;ENST00000529999;ENST00000531897;ENST00000533162|ENST00000527744	T;T;T;T;T;T;T;T;T;T|.	0.20463|.	2.54;2.56;2.57;2.55;2.4;2.55;2.6;3.36;3.22;2.07|.	5.02|5.02	4.14|4.14	0.48551|0.48551	Nucleotide-binding, alpha-beta plait (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59197|0.59197	0.2176|0.2176	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	B;P;P|.	0.37781|.	0.255;0.608;0.474|.	B;B;B|.	0.37422|.	0.057;0.249;0.056|.	T|T	0.55704|0.55704	-0.8099|-0.8099	10|5	0.30078|.	T|.	0.28|.	.|.	12.143|12.143	0.54008|0.54008	0.0831:0.0:0.9169:0.0|0.0831:0.0:0.9169:0.0	.|.	89;101;118|.	Q9UHX1-5;Q9UHX1-2;Q9UHX1|.	.;.;PUF60_HUMAN|.	V|W	118;75;58;89;101;72;100;138;138;155|116	ENSP00000434359:A118V;ENSP00000402953:A75V;ENSP00000322016:A58V;ENSP00000395417:A89V;ENSP00000322036:A101V;ENSP00000431960:A72V;ENSP00000432610:A100V;ENSP00000434863:A138V;ENSP00000437309:A138V;ENSP00000433403:A155V|.	ENSP00000322016:A58V|.	A|R	-|-	2|1	0|2	PUF60|PUF60	144972688|144972688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.732000|9.732000	0.98816|0.98816	1.108000|1.108000	0.41662|0.41662	0.467000|0.467000	0.42956|0.42956	GCG|CGG		0.692	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		4	74	0	0	0	1	0	4	74				
PRDX2	7001	broad.mit.edu	37	19	12911057	12911057	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:12911057G>A	ENST00000301522.2	-	4	442	c.314C>T	c.(313-315)gCt>gTt	p.A105V	PRDX2_ENST00000334482.5_Missense_Mutation_p.A105V|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	105	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.			A -> G (in Ref. 2; AAA50465). {ECO:0000305}.	cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGTCACGTCAGCAAGCAGGGG	0.617																																						ENST00000301522.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(313-315)gCt>gTt		peroxiredoxin 2							69.0	73.0	71.0					19																	12911057		2203	4300	6503	SO:0001583	missense	7001				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	g.chr19:12911057G>A		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.314C>T	19.37:g.12911057G>A	ENSP00000301522:p.Ala105Val					PRDX2_ENST00000334482.5_Missense_Mutation_p.A105V|CTD-2659N19.10_ENST00000585496.1_RNA	p.A105V	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN			4	442	-			105	A -> G (in Ref. 2; AAA50465).		Thioredoxin.		A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	37	c.314C>T	CCDS12281.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425015	0.96131	.	.	ENSG00000167815	ENST00000334482;ENST00000301522	T;T	0.16073	2.37;2.37	5.22	4.16	0.48862	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.285870	0.29587	N	0.011727	T	0.44286	0.1286	M	0.83483	2.645	0.80722	D	1	D	0.65815	0.995	D	0.68483	0.958	T	0.51965	-0.8638	10	0.87932	D	0	-36.4606	14.5859	0.68322	0.0:0.1476:0.8524:0.0	.	105	P32119	PRDX2_HUMAN	V	105	ENSP00000334063:A105V;ENSP00000301522:A105V	ENSP00000301522:A105V	A	-	2	0	PRDX2	12772057	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	9.344000	0.97050	1.181000	0.42912	0.561000	0.74099	GCT		0.617	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809		6	559	0	0	0	1	0	6	559				
BDH1	622	broad.mit.edu	37	3	197241260	197241260	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:197241260C>T	ENST00000392378.2	-	6	747	c.437G>A	c.(436-438)gGc>gAc	p.G146D	BDH1_ENST00000392379.1_Missense_Mutation_p.G146D|BDH1_ENST00000358186.2_Missense_Mutation_p.G146D|BDH1_ENST00000441275.1_Missense_Mutation_p.G59D	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	146					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		CGTTGAGATGCCGGCATTGTT	0.567																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(436-438)gGc>gAc		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						139.0	121.0	128.0					3																	197241260		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197241260C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.437G>A	3.37:g.197241260C>T	ENSP00000376183:p.Gly146Asp					BDH1_ENST00000392378.2_Missense_Mutation_p.G146D|BDH1_ENST00000358186.2_Missense_Mutation_p.G146D|BDH1_ENST00000441275.1_Missense_Mutation_p.G59D	p.G146D	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	7	838	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	146					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.437G>A	CCDS3328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.957381|3.957381	0.73902|0.73902	.|.	.|.	ENSG00000161267|ENSG00000161267	ENST00000455876|ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746;ENST00000434143;ENST00000432819	.|D;D;D;D;D;T;T	.|0.97089	.|-4.24;-4.24;-4.24;-4.24;-4.24;-0.2;-0.2	5.02|5.02	5.02|5.02	0.67125|0.67125	.|NAD(P)-binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99010|0.99010	0.9662|0.9662	H|H	0.97635|0.97635	4.045|4.045	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.72075	.|0.976	D|D	0.99174|0.99174	1.0865|1.0865	5|10	.|0.59425	.|D	.|0.04	.|.	16.2301|16.2301	0.82332|0.82332	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|146	.|Q02338	.|BDH_HUMAN	T|D	3|146;146;146;59;59;127;146	.|ENSP00000376183:G146D;ENSP00000350914:G146D;ENSP00000376184:G146D;ENSP00000411014:G59D;ENSP00000387648:G59D;ENSP00000408685:G127D;ENSP00000409849:G146D	.|ENSP00000350914:G146D	A|G	-|-	1|2	0|0	BDH1|BDH1	198725657|198725657	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.380000|0.380000	0.30137|0.30137	7.662000|7.662000	0.83803|0.83803	2.509000|2.509000	0.84616|0.84616	0.555000|0.555000	0.69702|0.69702	GCA|GGC		0.567	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		5	498	0	0	0	1	0	5	498				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			6	455	0	0	0	1	0	6	455				
HECTD1	25831	broad.mit.edu	37	14	31576215	31576215	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:31576215T>A	ENST00000399332.1	-	38	7351	c.6863A>T	c.(6862-6864)tAt>tTt	p.Y2288F	HECTD1_ENST00000553700.1_Missense_Mutation_p.Y2288F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2288	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCGTGACTCATAAATCAGTTT	0.368																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6862-6864)tAt>tTt		HECT domain containing E3 ubiquitin protein ligase 1							82.0	77.0	79.0					14																	31576215		1851	4100	5951	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31576215T>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6863A>T	14.37:g.31576215T>A	ENSP00000382269:p.Tyr2288Phe					HECTD1_ENST00000553700.1_Missense_Mutation_p.Y2288F	p.Y2288F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	38	7351	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2288			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6863A>T	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.57|11.57	1.677590|1.677590	0.29783|0.29783	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.39406	.|1.08;1.08	5.96|5.96	5.96|5.96	0.96718|0.96718	.|HECT (4);	.|0.085238	.|0.49305	.|U	.|0.000145	T|T	0.38161|0.38161	0.1030|0.1030	N|N	0.03608|0.03608	-0.345|-0.345	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.57257	.|0.979	.|D	.|0.71414	.|0.973	T|T	0.39563|0.39563	-0.9608|-0.9608	5|10	.|0.11794	.|T	.|0.64	-10.4726|-10.4726	15.0049|15.0049	0.71504|0.71504	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2288	.|Q9ULT8	.|HECD1_HUMAN	L|F	654|2288;2290;2288	.|ENSP00000450697:Y2288F;ENSP00000382269:Y2288F	.|ENSP00000261312:Y2290F	M|Y	-|-	1|2	0|0	HECTD1|HECTD1	30645966|30645966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.694000|7.694000	0.84235|0.84235	2.270000|2.270000	0.75569|0.75569	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.368	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			12	537	0	0	0	1	0	12	537				
REL	5966	broad.mit.edu	37	2	61145358	61145358	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:61145358C>A	ENST00000295025.8	+	6	888	c.568C>A	c.(568-570)Cgt>Agt	p.R190S	REL_ENST00000394479.3_Missense_Mutation_p.R190S	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	190	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAGGATTTGTCGTGTAAACAA	0.299			A		Hodgkin Lymphoma																																	ENST00000295025.7				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(568-570)Cgt>Agt		v-rel avian reticuloendotheliosis viral oncogene homolog							55.0	57.0	56.0					2																	61145358		2203	4297	6500	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61145358C>A	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.568C>A	2.37:g.61145358C>A	ENSP00000295025:p.Arg190Ser					REL_ENST00000394479.3_Missense_Mutation_p.R190S	p.R190S	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		6	888	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	190			RHD.		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.568C>A	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975340	0.92919	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.35973	1.28;1.28	5.41	5.41	0.78517	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66666	-0.5866	10	0.87932	D	0	-3.2497	19.1998	0.93707	0.0:1.0:0.0:0.0	.	190;190	Q17RU2;Q04864	.;REL_HUMAN	S	190	ENSP00000295025:R190S;ENSP00000377989:R190S	ENSP00000295025:R190S	R	+	1	0	REL	60998862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.071000	0.71229	2.520000	0.84964	0.650000	0.86243	CGT		0.299	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		4	254	1	0	1	1	1	4	254				
AUTS2	26053	broad.mit.edu	37	7	70229862	70229862	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:70229862A>C	ENST00000342771.4	+	8	1660	c.1339A>C	c.(1339-1341)Acc>Ccc	p.T447P	AUTS2_ENST00000406775.2_Missense_Mutation_p.T447P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	447										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		cttcacacccaccctccagcc	0.647																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(1339-1341)Acc>Ccc		autism susceptibility candidate 2							80.0	67.0	72.0					7																	70229862		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70229862A>C	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1339A>C	7.37:g.70229862A>C	ENSP00000344087:p.Thr447Pro					AUTS2_ENST00000406775.2_Missense_Mutation_p.T447P	p.T447P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	8	1660	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	447					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.1339A>C	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721953	0.48728	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.11604	2.76;2.76	5.38	3.05	0.35203	.	0.397491	0.29868	N	0.010995	T	0.10551	0.0258	N	0.22421	0.69	0.80722	D	1	D;D	0.53151	0.958;0.958	P;P	0.51229	0.663;0.663	T	0.20042	-1.0287	9	.	.	.	-11.6536	8.4964	0.33130	0.7758:0.0:0.2242:0.0	.	447;447	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	P	447	ENSP00000385263:T447P;ENSP00000344087:T447P	.	T	+	1	0	AUTS2	69867798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.980000	0.29513	0.897000	0.36392	0.496000	0.49642	ACC		0.647	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			7	55	0	0	0	1	0	7	55				
LZTS3	9762	broad.mit.edu	37	20	3145622	3145622	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:3145622G>T	ENST00000329152.3	-	3	2897	c.1500C>A	c.(1498-1500)agC>agA	p.S500R	LZTS3_ENST00000337576.5_Missense_Mutation_p.S454R|LZTS3_ENST00000360342.3_Missense_Mutation_p.S454R			O60299	LZTS3_HUMAN		500						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											TGGCCTGCTTGCTGCTGAAGG	0.706																																						ENST00000329152.3																			0											c.(1498-1500)agC>agA									6.0	6.0	6.0					20																	3145622		2123	4145	6268	SO:0001583	missense	0							g.chr20:3145622G>T																												ENST00000329152.3:c.1500C>A	20.37:g.3145622G>T	ENSP00000332123:p.Ser500Arg					LZTS3_ENST00000337576.5_Missense_Mutation_p.S454R|LZTS3_ENST00000360342.3_Missense_Mutation_p.S454R	p.S500R	NM_014731.2	NP_055546.1					3	2897	-								A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.1500C>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569854	0.86542	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.48836	0.8;0.8;0.8	4.48	4.48	0.54585	.	0.267246	0.43110	D	0.000613	T	0.58438	0.2122	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.63880	0.978;0.993	P;P	0.60012	0.719;0.867	T	0.55398	-0.8147	10	0.33940	T	0.23	-21.5	17.6945	0.88277	0.0:0.0:1.0:0.0	.	454;500	O60299-2;O60299	.;PRIP1_HUMAN	R	500;454;454	ENSP00000332123:S500R;ENSP00000353496:S454R;ENSP00000338166:S454R	ENSP00000332123:S500R	S	-	3	2	RP5-1187M17.10	3093622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.480000	0.83734	0.561000	0.74099	AGC		0.706	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			3	36	1	0	1	1	1	3	36				
MUSK	4593	broad.mit.edu	37	9	113562883	113562883	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:113562883C>T	ENST00000374448.4	+	15	2359	c.2225C>T	c.(2224-2226)gCc>gTc	p.A742V	MUSK_ENST00000189978.5_Missense_Mutation_p.A742V|MUSK_ENST00000416899.2_Missense_Mutation_p.A734V	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	742	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GTGAAAATTGCCGACTTTGGC	0.498																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(2200-2202)gCc>gTc		muscle, skeletal, receptor tyrosine kinase							162.0	162.0	162.0					9																	113562883		1993	4172	6165	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113562883C>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2225C>T	9.37:g.113562883C>T	ENSP00000363571:p.Ala742Val					MUSK_ENST00000374448.4_Missense_Mutation_p.A742V|MUSK_ENST00000189978.5_Missense_Mutation_p.A742V	p.A734V			O15146	MUSK_HUMAN			13	2327	+			742			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.2201C>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769236	0.69992	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	D	0.84442	-1.85	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91974	0.5589	10	0.87932	D	0	.	18.6395	0.91390	0.0:1.0:0.0:0.0	.	742	O15146	MUSK_HUMAN	V	748;742;742;656;656;740	ENSP00000363571:A742V	ENSP00000189978:A748V	A	+	2	0	MUSK	112602704	1.000000	0.71417	0.858000	0.33744	0.057000	0.15508	7.772000	0.85439	2.705000	0.92388	0.650000	0.86243	GCC		0.498	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	932	0	0	0	1	0	6	932				
ADAR	103	broad.mit.edu	37	1	154574475	154574475	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:154574475C>A	ENST00000368474.4	-	2	842	c.643G>T	c.(643-645)Ggt>Tgt	p.G215C	ADAR_ENST00000292205.5_Missense_Mutation_p.G258C|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	215					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGCTATGACCGTCTGGTCTT	0.522																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(643-645)Ggt>Tgt		adenosine deaminase, RNA-specific							91.0	96.0	95.0					1																	154574475		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574475C>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.643G>T	1.37:g.154574475C>A	ENSP00000357459:p.Gly215Cys					ADAR_ENST00000292205.5_Missense_Mutation_p.G258C|ADAR_ENST00000368471.3_5'UTR	p.G215C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	842	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		215					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.643G>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796722	0.31777	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.13196	2.61;2.62;2.63	2.54	-5.07	0.02938	.	13.364500	0.00447	N	0.000091	T	0.05273	0.0140	L	0.29908	0.895	0.09310	N	1	P;P;P	0.51449	0.854;0.854;0.945	P;P;P	0.50860	0.652;0.652;0.487	T	0.14008	-1.0488	10	0.72032	D	0.01	13.0811	4.3347	0.11080	0.0:0.2519:0.3265:0.4216	.	215;215;215	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	C	258;215;210	ENSP00000292205:G258C;ENSP00000357459:G215C;ENSP00000431794:G210C	ENSP00000292205:G258C	G	-	1	0	ADAR	152841099	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.602000	0.02079	-1.387000	0.02095	-0.671000	0.03813	GGT		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		6	966	1	0	1	1	1	6	966				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		9	351	0	0	0	1	0	9	351				
KCNN3	3782	broad.mit.edu	37	1	154842330	154842330	+	Silent	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:154842330T>C	ENST00000271915.4	-	1	426	c.111A>G	c.(109-111)caA>caG	p.Q37Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	37	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgttgctgctgct	0.677																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(109-111)caA>caG		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							8.0	8.0	8.0					1																	154842330		1936	3838	5774	SO:0001819	synonymous_variant	3782					integral to membrane	calmodulin binding	g.chr1:154842330T>C	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.111A>G	1.37:g.154842330T>C							p.Q37Q	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	426	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		37			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	c.111A>G	CCDS30880.1																																																																																				0.677	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		5	107	0	0	0	1	0	5	107				
TRIOBP	11078	broad.mit.edu	37	22	38153721	38153721	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:38153721G>A	ENST00000406386.3	+	16	6044	c.5789G>A	c.(5788-5790)cGg>cAg	p.R1930Q	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R217Q|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R217Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1930					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTCATCAGCCGGGGTGGCCCT	0.701																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(5788-5790)cGg>cAg		TRIO and F-actin binding protein							12.0	14.0	14.0					22																	38153721		2177	4278	6455	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38153721G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5789G>A	22.37:g.38153721G>A	ENSP00000384312:p.Arg1930Gln					TRIOBP_ENST00000403663.2_Missense_Mutation_p.R217Q|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R217Q	p.R1930Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			16	6044	+	Melanoma(58;0.0574)		1930					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.5789G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561208	0.86335	.	.	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	T	0.26957	1.7	5.5	5.5	0.81552	.	.	.	.	.	T	0.43055	0.1230	M	0.76574	2.34	0.31902	N	0.615782	D;D;D	0.71674	0.993;0.994;0.998	P;P;P	0.53760	0.713;0.734;0.608	T	0.56505	-0.7968	9	0.66056	D	0.02	.	13.1341	0.59399	0.0828:0.0:0.9172:0.0	.	217;217;1930	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	Q	1930;217;217;176;146	ENSP00000384312:R1930Q	ENSP00000386026:R217Q	R	+	2	0	TRIOBP	36483667	0.999000	0.42202	0.997000	0.53966	0.785000	0.44390	3.643000	0.54374	2.580000	0.87095	0.555000	0.69702	CGG		0.701	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			11	13	0	0	0	1	0	11	13				
SBK2	646643	broad.mit.edu	37	19	56042597	56042597	+	Silent	SNP	G	G	A	rs200066533	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56042597G>A	ENST00000413299.1	-	3	406	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SBK2_ENST00000344158.3_Silent_p.Y123Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCCAATGCCGTAGGCCGTCA	0.642																																						ENST00000413299.1																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(367-369)taC>taT		SH3 domain binding kinase family, member 2							48.0	55.0	52.0					19																	56042597		2165	4254	6419	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56042597G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.369C>T	19.37:g.56042597G>A						SBK2_ENST00000344158.3_Silent_p.Y123Y	p.Y123Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			3	406	-			123			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.369C>T	CCDS42631.1																																																																																				0.642	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		57	139	0	0	0	1	0	57	139				
RAB40B	10966	broad.mit.edu	37	17	80616499	80616499	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:80616499C>T	ENST00000571995.1	-	5	564	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	RAB40B_ENST00000538809.2_Intron|RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000571880.1_5'Flank	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	145					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGGCGCTCGGCGTAGGCCTGG	0.652																																						ENST00000571995.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10						c.(433-435)Gcc>Acc		RAB40B, member RAS oncogene family							39.0	40.0	40.0					17																	80616499		2203	4300	6503	SO:0001583	missense	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80616499C>T	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.433G>A	17.37:g.80616499C>T	ENSP00000461785:p.Ala145Thr					RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Intron	p.A145T	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		5	564	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	145					Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	37	c.433G>A	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306869	0.95629	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	3.84	3.84	0.44239	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000008	D	0.84804	0.5553	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	D	0.63597	0.916	D	0.89908	0.4049	9	0.87932	D	0	.	16.2189	0.82244	0.0:1.0:0.0:0.0	.	145	Q12829	RB40B_HUMAN	T	145;179	.	ENSP00000269347:A145T	A	-	1	0	RAB40B	78209788	1.000000	0.71417	0.792000	0.32020	0.907000	0.53573	5.860000	0.69546	2.082000	0.62665	0.591000	0.81541	GCC		0.652	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			78	151	0	0	0	1	0	78	151				
SCN11A	11280	broad.mit.edu	37	3	38927647	38927647	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:38927647T>C	ENST00000302328.3	-	16	3116	c.2918A>G	c.(2917-2919)gAg>gGg	p.E973G	SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000444237.2_Missense_Mutation_p.E973G|SCN11A_ENST00000450244.1_Missense_Mutation_p.E973G	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	973					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGATGAGGCTCATCTTCAGA	0.473																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2917-2919)gAg>gGg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						145.0	129.0	134.0					3																	38927647		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38927647T>C	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2918A>G	3.37:g.38927647T>C	ENSP00000307599:p.Glu973Gly					SCN11A_ENST00000444237.2_Missense_Mutation_p.E973G|SCN11A_ENST00000450244.1_Missense_Mutation_p.E973G|SCN11A_ENST00000456224.3_Intron	p.E973G	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	16	3116	-			973					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2918A>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	8.953	0.968572	0.18659	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000444237	D;D;D	0.84442	-1.85;-1.85;-1.85	4.65	-0.854	0.10705	Sodium ion transport-associated (1);	36.800200	0.00166	U	0.000002	T	0.70029	0.3177	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.56111	-0.8033	10	0.23302	T	0.38	.	2.8054	0.05426	0.3189:0.1881:0.0:0.493	.	973	Q9UI33	SCNBA_HUMAN	G	973	ENSP00000307599:E973G;ENSP00000400945:E973G;ENSP00000408028:E973G	ENSP00000307599:E973G	E	-	2	0	SCN11A	38902651	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-0.267000	0.08619	-0.027000	0.13873	0.533000	0.62120	GAG		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		5	478	0	0	0	1	0	5	478				
MIB2	142678	broad.mit.edu	37	1	1560722	1560722	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:1560722G>A	ENST00000357210.4	+	7	1168	c.952G>A	c.(952-954)Ggg>Agg	p.G318R	MIB2_ENST00000355826.5_Missense_Mutation_p.G361R|MIB2_ENST00000518681.1_Missense_Mutation_p.G310R|MIB2_ENST00000504599.1_Missense_Mutation_p.G274R|MIB2_ENST00000520777.1_Missense_Mutation_p.G375R|MIB2_ENST00000505820.2_Missense_Mutation_p.G375R|MIB2_ENST00000360522.4_Missense_Mutation_p.G318R|MIB2_ENST00000378712.1_Missense_Mutation_p.G195R|MIB2_ENST00000378710.3_Missense_Mutation_p.G318R|MIB2_ENST00000378708.1_Missense_Mutation_p.G260R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	318					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTTCCAGCACGGGGACAAGGT	0.701																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(952-954)Ggg>Agg		mindbomb E3 ubiquitin protein ligase 2							17.0	20.0	19.0					1																	1560722		2018	4206	6224	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1560722G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.952G>A	1.37:g.1560722G>A	ENSP00000349741:p.Gly318Arg					MIB2_ENST00000378710.3_Missense_Mutation_p.G318R|MIB2_ENST00000504599.1_Missense_Mutation_p.G274R|MIB2_ENST00000520777.1_Missense_Mutation_p.G375R|MIB2_ENST00000355826.5_Missense_Mutation_p.G361R|MIB2_ENST00000378708.1_Missense_Mutation_p.G260R|MIB2_ENST00000518681.1_Missense_Mutation_p.G310R|MIB2_ENST00000360522.4_Missense_Mutation_p.G318R|MIB2_ENST00000378712.1_Missense_Mutation_p.G195R|MIB2_ENST00000505820.2_Missense_Mutation_p.G375R	p.G318R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	7	1168	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	318					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.952G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.825869|2.825869	0.50739|0.50739	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708|ENST00000514234	T;T;T;T;T;T;T;D;T;T|.	0.83673|.	0.14;-0.2;-0.44;0.52;-0.19;0.08;-0.27;-1.75;0.11;0.59|.	4.39|4.39	3.46|3.46	0.39613|0.39613	.|.	0.121426|.	0.56097|.	D|.	0.000037|.	T|T	0.69806|0.69806	0.3152|0.3152	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0|.	T|T	0.69935|0.69935	-0.5010|-0.5010	10|5	0.87932|.	D|.	0|.	-11.1814|-11.1814	10.7454|10.7454	0.46177|0.46177	0.0938:0.0:0.9062:0.0|0.0938:0.0:0.9062:0.0	.|.	318;195;310;375;304;318|.	Q96AX9-5;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9|.	.;.;.;.;.;MIB2_HUMAN|.	R|Q	375;318;318;318;361;310;375;195;274;260|168	ENSP00000428660:G375R;ENSP00000349741:G318R;ENSP00000353713:G318R;ENSP00000367982:G318R;ENSP00000348081:G361R;ENSP00000428264:G310R;ENSP00000426103:G375R;ENSP00000367984:G195R;ENSP00000426128:G274R;ENSP00000367980:G260R|.	ENSP00000348081:G361R|.	G|R	+|+	1|2	0|0	MIB2|MIB2	1550585|1550585	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.057000|0.057000	0.15508|0.15508	6.189000|6.189000	0.72051|0.72051	1.998000|1.998000	0.58463|0.58463	0.305000|0.305000	0.20034|0.20034	GGG|CGG		0.701	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		3	26	0	0	0	1	0	3	26				
HIVEP3	59269	broad.mit.edu	37	1	42045587	42045587	+	Missense_Mutation	SNP	C	C	T	rs139041950	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:42045587C>T	ENST00000372583.1	-	4	5767	c.4882G>A	c.(4882-4884)Gct>Act	p.A1628T	HIVEP3_ENST00000372584.1_Missense_Mutation_p.A1628T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1628T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1628T|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1628					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACCAACCAGCGTAAACAGAG	0.478													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22157	0.0		0.0	False		,,,				2504	0.0					ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(4882-4884)Gct>Act		human immunodeficiency virus type I enhancer binding protein 3		C	THR/ALA,THR/ALA	0,4406		0,0,2203	138.0	114.0	122.0		4882,4882	5.7	1.0	1	dbSNP_134	122	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	HIVEP3	NM_001127714.2,NM_024503.4	58,58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	1628/2406,1628/2407	42045587	3,13003	2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045587C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4882G>A	1.37:g.42045587C>T	ENSP00000361664:p.Ala1628Thr					HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1628T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1628T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1628T	p.A1628T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	5896	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1628					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4882G>A	CCDS463.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.40	2.821054	0.50633	0.0	3.49E-4	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.09630	2.96;2.99;2.99;2.96	5.65	5.65	0.86999	.	0.000000	0.53938	D	0.000051	T	0.09774	0.0240	L	0.45581	1.43	0.43069	D	0.994707	P;P	0.52463	0.953;0.921	B;B	0.35114	0.196;0.096	T	0.05402	-1.0887	10	0.42905	T	0.14	-6.5514	13.7448	0.62868	0.0:0.9265:0.0:0.0735	.	1628;1628	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	1628	ENSP00000361665:A1628T;ENSP00000361664:A1628T;ENSP00000247584:A1628T;ENSP00000410828:A1628T	ENSP00000247584:A1628T	A	-	1	0	HIVEP3	41818174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.729000	0.62008	2.941000	0.99782	0.655000	0.94253	GCT		0.478	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		5	492	0	0	0	1	0	5	492				
AP4B1	10717	broad.mit.edu	37	1	114445373	114445373	+	Silent	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:114445373A>G	ENST00000369569.1	-	2	505	c.225T>C	c.(223-225)taT>taC	p.Y75Y	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Silent_p.Y75Y|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Silent_p.Y75Y	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	75					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGGGGAGCATATGTGCACA	0.498																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(223-225)taT>taC		adaptor-related protein complex 4, beta 1 subunit							156.0	127.0	137.0					1																	114445373		2203	4300	6503	SO:0001819	synonymous_variant	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114445373A>G	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.225T>C	1.37:g.114445373A>G						AP4B1_ENST00000256658.4_Silent_p.Y75Y|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Silent_p.Y75Y	p.Y75Y	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	505	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	75					B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	37	c.225T>C	CCDS865.1																																																																																				0.498	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		135	157	0	0	0	1	0	135	157				
MYH11	4629	broad.mit.edu	37	16	15844126	15844126	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:15844126A>G	ENST00000300036.5	-	16	2036	c.1927T>C	c.(1927-1929)Tcc>Ccc	p.S643P	MYH11_ENST00000396324.3_Missense_Mutation_p.S650P|MYH11_ENST00000576790.2_Missense_Mutation_p.S643P|MYH11_ENST00000452625.2_Missense_Mutation_p.S650P	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	643	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGGTCTTGGAGGCGCTGGGC	0.632			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(1927-1929)Tcc>Ccc		myosin, heavy chain 11, smooth muscle							124.0	91.0	102.0					16																	15844126		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15844126A>G	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1927T>C	16.37:g.15844126A>G	ENSP00000300036:p.Ser643Pro					MYH11_ENST00000300036.5_Missense_Mutation_p.S643P|MYH11_ENST00000576790.1_Missense_Mutation_p.S643P|MYH11_ENST00000396324.3_Missense_Mutation_p.S650P|MYH11_ENST00000452625.2_Missense_Mutation_p.S650P	p.S643P	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			16	2033	-			643			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.1927T>C	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709102	0.68615	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.47	4.33	0.51752	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	L	0.52364	1.645	0.80722	D	1	P;P;P;B;P;B	0.39216	0.664;0.492;0.492;0.143;0.492;0.143	B;B;B;B;B;B	0.38985	0.287;0.287;0.287;0.287;0.287;0.287	T	0.78314	-0.2252	10	0.30078	T	0.28	.	11.0495	0.47878	0.8516:0.0:0.0:0.1483	.	650;643;643;650;643;650	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	P	643;643;650;650;650	ENSP00000300036:S643P;ENSP00000345136:S643P;ENSP00000379616:S650P;ENSP00000407821:S650P	ENSP00000300036:S643P	S	-	1	0	MYH11	15751627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.162000	0.64942	0.837000	0.34925	0.459000	0.35465	TCC		0.632	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		4	144	0	0	0	1	0	4	144				
GPR156	165829	broad.mit.edu	37	3	119962542	119962542	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:119962542C>T	ENST00000464295.1	-	3	623	c.178G>A	c.(178-180)Gga>Aga	p.G60R	GPR156_ENST00000315843.3_Missense_Mutation_p.G60R|GPR156_ENST00000461057.1_Missense_Mutation_p.G60R			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGCAGAAGTCCACAGCTGAGA	0.433																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(178-180)Gga>Aga		G protein-coupled receptor 156							130.0	116.0	121.0					3																	119962542		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119962542C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.178G>A	3.37:g.119962542C>T	ENSP00000417261:p.Gly60Arg					GPR156_ENST00000315843.3_Missense_Mutation_p.G60R|GPR156_ENST00000461057.1_Missense_Mutation_p.G60R	p.G60R			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	3	623	-			60					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.178G>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949646	0.73787	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	D;D;D	0.91945	-2.94;-2.94;-2.94	5.2	4.31	0.51392	GPCR, family 3, C-terminal (2);	0.089971	0.46758	D	0.000261	D	0.95974	0.8689	M	0.88512	2.96	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.95894	0.8909	9	.	.	.	-13.3173	10.9026	0.47059	0.187:0.813:0.0:0.0	.	60;60	E9PFZ4;Q8NFN8	.;GP156_HUMAN	R	60	ENSP00000417261:G60R;ENSP00000324553:G60R;ENSP00000418758:G60R	.	G	-	1	0	GPR156	121445232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.539000	0.60657	1.385000	0.46445	0.650000	0.86243	GGA		0.433	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		118	272	0	0	0	1	0	118	272				
DEPDC1B	55789	broad.mit.edu	37	5	59895034	59895034	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:59895034G>A	ENST00000265036.5	-	10	1363	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	DEPDC1B_ENST00000453022.2_Intron|DEPDC1B_ENST00000545085.1_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	432					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TAATTTGACGGCAAAATGATG	0.383																																						ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(1294-1296)tgC>tgT		DEP domain containing 1B							81.0	83.0	82.0					5																	59895034		2203	4300	6503	SO:0001819	synonymous_variant	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59895034G>A	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1296C>T	5.37:g.59895034G>A						DEPDC1B_ENST00000453022.2_Intron|DEPDC1B_ENST00000545085.1_Intron	p.C432C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			10	1363	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	432					A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Silent	SNP	ENST00000265036.5	37	c.1296C>T	CCDS3977.1																																																																																				0.383	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		5	462	0	0	0	1	0	5	462				
FMN2	56776	broad.mit.edu	37	1	240371624	240371624	+	Missense_Mutation	SNP	C	C	T	rs190820789		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:240371624C>T	ENST00000319653.9	+	5	3742	c.3512C>T	c.(3511-3513)gCg>gTg	p.A1171V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1171	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTACCCGGAGCGGGCATACCC	0.687																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3511-3513)gCg>gTg		formin 2							7.0	9.0	8.0					1																	240371624		2164	4237	6401	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371624C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3512C>T	1.37:g.240371624C>T	ENSP00000318884:p.Ala1171Val						p.A1171V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3742	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1171			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3512C>T	CCDS31069.2	69	0.03159340659340659	22	0.044715447154471545	9	0.024861878453038673	16	0.027972027972027972	22	0.029023746701846966	c	5.600	0.295454	0.10622	.	.	ENSG00000155816	ENST00000319653	T	0.60040	0.22	2.84	-3.44	0.04796	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	.	.	.	.	T	0.11367	0.0277	L	0.33137	0.985	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.11012	-1.0605	8	.	.	.	.	5.5532	0.17101	0.0:0.3289:0.1447:0.5263	.	1171	Q9NZ56	FMN2_HUMAN	V	1171	ENSP00000318884:A1171V	.	A	+	2	0	FMN2	238438247	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.453000	0.00465	-0.393000	0.07739	-1.200000	0.01667	GCG		0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	79	0	0	0	1	0	4	79				
PPM1G	5496	broad.mit.edu	37	2	27607706	27607706	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:27607706C>T	ENST00000344034.4	-	5	923	c.659G>A	c.(658-660)cGt>cAt	p.R220H	PPM1G_ENST00000350803.4_Missense_Mutation_p.R220H	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	220					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTCAGTCCCACGTTCCGAGTT	0.572																																						ENST00000344034.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(658-660)cGt>cAt		protein phosphatase, Mg2+/Mn2+ dependent, 1G							136.0	117.0	123.0					2																	27607706		2203	4300	6503	SO:0001583	missense	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27607706C>T	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.659G>A	2.37:g.27607706C>T	ENSP00000342778:p.Arg220His					PPM1G_ENST00000350803.4_Missense_Mutation_p.R220H	p.R220H	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN			5	923	-	Acute lymphoblastic leukemia(172;0.155)		220						Missense_Mutation	SNP	ENST00000344034.4	37	c.659G>A	CCDS1752.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335465	0.24253	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412	T;T	0.44083	0.93;0.93	5.75	2.95	0.34219	Protein phosphatase 2C-like (3);	0.608394	0.16245	N	0.222966	T	0.27663	0.0680	L	0.36672	1.1	0.27600	N	0.948996	B	0.02656	0.0	B	0.01281	0.0	T	0.21245	-1.0251	10	0.21014	T	0.42	0.2289	5.1636	0.15073	0.0:0.5481:0.1408:0.3111	.	220	O15355	PPM1G_HUMAN	H	220;220;203	ENSP00000342778:R220H;ENSP00000264714:R220H	ENSP00000342778:R220H	R	-	2	0	PPM1G	27461210	0.997000	0.39634	0.997000	0.53966	0.986000	0.74619	1.019000	0.30014	0.348000	0.23949	0.655000	0.94253	CGT		0.572	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		16	393	0	0	0	1	0	16	393				
SYNE2	23224	broad.mit.edu	37	14	64518983	64518983	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:64518983G>A	ENST00000344113.4	+	48	8564	c.8352G>A	c.(8350-8352)tcG>tcA	p.S2784S	SYNE2_ENST00000357395.3_De_novo_Start_InFrame|SYNE2_ENST00000554584.1_Silent_p.S2817S|SYNE2_ENST00000358025.3_Silent_p.S2784S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2784					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGTGGAATCGTTGGCTGAAG	0.443																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224								spectrin repeat containing, nuclear envelope 2							137.0	129.0	131.0					14																	64518983		1958	4147	6105	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518983G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8352G>A	14.37:g.64518983G>A						SYNE2_ENST00000554584.1_Silent_p.S2817S|SYNE2_ENST00000344113.4_Silent_p.S2784S|SYNE2_ENST00000358025.3_Silent_p.S2784S				Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	0	8582	+								Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Translation_Start_Site	SNP	ENST00000344113.4	37		CCDS41963.1																																																																																				0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		6	629	0	0	0	1	0	6	629				
SH3PXD2A	9644	broad.mit.edu	37	10	105363058	105363058	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:105363058G>A	ENST00000369774.4	-	15	2193	c.1917C>T	c.(1915-1917)tcC>tcT	p.S639S	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.S611S|SH3PXD2A_ENST00000538130.1_Silent_p.S474S|SH3PXD2A_ENST00000540321.1_Silent_p.S506S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	639	Ser-rich.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGCTGTCCCCGGAGGAGCCTC	0.582																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1915-1917)tcC>tcT		SH3 and PX domains 2A							85.0	100.0	95.0					10																	105363058		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363058G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1917C>T	10.37:g.105363058G>A						SH3PXD2A_ENST00000540321.1_Silent_p.S506S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.S474S|SH3PXD2A_ENST00000355946.2_Silent_p.S611S	p.S639S			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2193	-		Colorectal(252;0.0815)|Breast(234;0.131)	639			Ser-rich.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.1917C>T		.	.	.	.	.	.	.	.	.	.	g	2.928	-0.221668	0.06061	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	T	0.36853	0.0982	.	.	.	0.37647	D	0.922262	.	.	.	.	.	.	T	0.46303	-0.9201	4	.	.	.	-21.6225	6.1235	0.20165	0.406:0.0848:0.4253:0.0839	.	.	.	.	W	566	.	.	R	-	1	2	SH3PXD2A	105353048	0.779000	0.28652	0.666000	0.29783	0.854000	0.48673	-0.066000	0.11598	-1.859000	0.01156	-2.912000	0.00091	CGG		0.582	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		6	923	0	0	0	1	0	6	923				
POLR1C	9533	broad.mit.edu	37	6	43488767	43488767	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:43488767G>A	ENST00000372389.3	+	8	991	c.903G>A	c.(901-903)cgG>cgA	p.R301R	POLR1C_ENST00000304004.3_Silent_p.R301R|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000372344.2_Silent_p.R251R	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	301					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGCTTGCCCGGGTTCGAGATC	0.488																																						ENST00000372389.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(901-903)cgG>cgA		polymerase (RNA) I polypeptide C, 30kDa							125.0	129.0	128.0					6																	43488767		2203	4300	6503	SO:0001819	synonymous_variant	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43488767G>A	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.903G>A	6.37:g.43488767G>A						POLR1C_ENST00000372344.2_Silent_p.R251R|POLR1C_ENST00000304004.3_Silent_p.R301R	p.R301R	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		8	991	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		301					O75395|Q5JTE3	Silent	SNP	ENST00000372389.3	37	c.903G>A	CCDS4901.1																																																																																				0.488	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		5	445	0	0	0	1	0	5	445				
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132.0	121.0	125.0					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		6	647	0	0	0	1	0	6	647				
RP1L1	94137	broad.mit.edu	37	8	10467278	10467278	+	Missense_Mutation	SNP	C	C	T	rs371898327	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:10467278C>T	ENST00000382483.3	-	4	4553	c.4330G>A	c.(4330-4332)Gca>Aca	p.A1444T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1524					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTGCCCTCTGCGGGGCACGGC	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		16663	0.002		0.0	False		,,,				2504	0.0					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(4330-4332)Gca>Aca		retinitis pigmentosa 1-like 1			THR/ALA	0,3946		0,0,1973	113.0	126.0	122.0		4330	-0.9	0.0	8		122	1,8335		0,1,4167	no	missense	RP1L1	NM_178857.5	58	0,1,6140	TT,TC,CC		0.012,0.0,0.0081	benign	1444/2401	10467278	1,12281	1973	4168	6141	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467278C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4330G>A	8.37:g.10467278C>T	ENSP00000371923:p.Ala1444Thr						p.A1444T	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4553	-			1444					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4330G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858404	0.51376	0.0	1.2E-4	ENSG00000183638	ENST00000382483	T	0.04275	3.66	4.51	-0.936	0.10419	.	2.086770	0.02877	U	0.132436	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.23249	0.082	B	0.16722	0.016	T	0.43988	-0.9357	10	0.46703	T	0.11	1.2785	7.8177	0.29269	0.1758:0.556:0.2682:0.0	.	1444	A6NKC6	.	T	1444	ENSP00000371923:A1444T	ENSP00000371923:A1444T	A	-	1	0	RP1L1	10504688	.	.	0.000000	0.03702	0.006000	0.05464	.	.	-0.764000	0.04651	-0.674000	0.03794	GCA		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			8	950	0	0	0	1	0	8	950				
C20orf27	54976	broad.mit.edu	37	20	3735071	3735071	+	Missense_Mutation	SNP	G	G	A	rs147923821	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:3735071G>A	ENST00000379772.3	-	5	1207	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	C20orf27_ENST00000217195.8_Missense_Mutation_p.R158C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	133										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						ACCGTCACGCGCACACAGGTG	0.607																																						ENST00000379772.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						c.(397-399)Cgc>Tgc		chromosome 20 open reading frame 27		G	CYS/ARG	0,4406		0,0,2203	119.0	101.0	107.0		472	4.8	1.0	20	dbSNP_134	107	5,8595	4.3+/-15.6	0,5,4295	no	missense	C20orf27	NM_001039140.1	180	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	158/200	3735071	5,13001	2203	4300	6503	SO:0001583	missense	54976							g.chr20:3735071G>A	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.397C>T	20.37:g.3735071G>A	ENSP00000369097:p.Arg133Cys					C20orf27_ENST00000217195.8_Missense_Mutation_p.R158C	p.R133C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN			5	1207	-			133					A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	ENST00000379772.3	37	c.397C>T	CCDS58763.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444556	0.63178	0.0	5.81E-4	ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672	.	.	.	4.82	4.82	0.62117	.	0.489617	0.16493	U	0.212032	T	0.47544	0.1451	L	0.36672	1.1	0.43942	D	0.996602	P;D	0.69078	0.947;0.997	B;P	0.46975	0.219;0.533	T	0.48864	-0.8997	9	0.66056	D	0.02	-6.8665	10.7935	0.46447	0.0:0.0:0.8111:0.1889	.	133;158	Q9GZN8;Q9GZN8-2	CT027_HUMAN;.	C	133;158;133	.	ENSP00000217195:R158C	R	-	1	0	C20orf27	3683071	0.996000	0.38824	0.994000	0.49952	0.498000	0.33706	3.360000	0.52299	2.677000	0.91161	0.561000	0.74099	CGC		0.607	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		5	457	0	0	0	1	0	5	457				
PHKB	5257	broad.mit.edu	37	16	47533708	47533708	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:47533708C>A	ENST00000323584.5	+	3	232	c.208C>A	c.(208-210)Ctc>Atc	p.L70I	PHKB_ENST00000455779.1_Missense_Mutation_p.L63I|PHKB_ENST00000299167.8_Missense_Mutation_p.L70I|PHKB_ENST00000566044.1_Missense_Mutation_p.L63I|PHKB_ENST00000567402.1_3'UTR	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	70					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AACTACCGGTCTCTTTCCCAC	0.502																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(187-189)Ctc>Atc		phosphorylase kinase, beta							165.0	157.0	159.0					16																	47533708		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47533708C>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.208C>A	16.37:g.47533708C>A	ENSP00000313504:p.Leu70Ile					PHKB_ENST00000323584.5_Missense_Mutation_p.L70I|PHKB_ENST00000299167.8_Missense_Mutation_p.L70I|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Missense_Mutation_p.L63I	p.L63I			Q93100	KPBB_HUMAN			4	372	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	70					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.187C>A	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954603	0.92726	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90504	-2.68;-2.68	5.81	5.81	0.92471	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.060624	0.64402	N	0.000003	D	0.96331	0.8803	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.91635	0.934;0.999;0.981	D	0.96784	0.9577	10	0.87932	D	0	-15.4103	13.2989	0.60313	0.0:0.9278:0.0:0.0722	.	63;70;63	B4DQ16;Q93100;Q93100-4	.;KPBB_HUMAN;.	I	63;63;70	ENSP00000414345:L63I;ENSP00000313504:L70I	ENSP00000299167:L63I	L	+	1	0	PHKB	46091209	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.909000	0.63314	2.737000	0.93849	0.655000	0.94253	CTC		0.502	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			6	592	1	0	0.0215528	1	0.0236407	6	592				
HFE2	148738	broad.mit.edu	37	1	145415543	145415543	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:145415543G>A	ENST00000336751.5	+	3	600	c.362G>A	c.(361-363)cGc>cAc	p.R121H	HFE2_ENST00000357836.5_Missense_Mutation_p.R8H|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	121					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACTGCTCCCGCCAGGGCCCT	0.711																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(361-363)cGc>cAc		hemochromatosis type 2 (juvenile)							23.0	26.0	25.0					1																	145415543		2203	4298	6501	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145415543G>A	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.362G>A	1.37:g.145415543G>A	ENSP00000337014:p.Arg121His					HFE2_ENST00000357836.5_Missense_Mutation_p.R8H|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	p.R121H	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	600	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		121					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.362G>A	CCDS910.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196121	0.58126	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.97430	-4.38;-4.38	4.62	3.71	0.42584	Repulsive guidance molecule, N-terminal (1);	0.269516	0.28859	N	0.013913	D	0.95376	0.8499	L	0.43152	1.355	0.40229	D	0.977826	D	0.65815	0.995	P	0.60886	0.88	D	0.95071	0.8204	10	0.72032	D	0.01	-14.3566	7.0706	0.25177	0.2007:0.0:0.7993:0.0	.	121	Q6ZVN8	RGMC_HUMAN	H	8;121	ENSP00000350495:R8H;ENSP00000337014:R121H	ENSP00000337014:R121H	R	+	2	0	HFE2	144126900	0.947000	0.32204	0.882000	0.34594	0.414000	0.31173	1.195000	0.32186	1.177000	0.42855	0.558000	0.71614	CGC		0.711	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		6	296	0	0	0	1	0	6	296				
HAPLN2	60484	broad.mit.edu	37	1	156593808	156593808	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:156593808G>T	ENST00000255039.1	+	4	702	c.295G>T	c.(295-297)Ggg>Tgg	p.G99W		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	99	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCCCTGGGAGGGCGCGCCAG	0.687																																						ENST00000255039.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7						c.(295-297)Ggg>Tgg		hyaluronan and proteoglycan link protein 2							16.0	19.0	18.0					1																	156593808		2185	4260	6445	SO:0001583	missense	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156593808G>T	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.295G>T	1.37:g.156593808G>T	ENSP00000255039:p.Gly99Trp						p.G99W	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN			4	702	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		99			Ig-like V-type.		Q5T3J0	Missense_Mutation	SNP	ENST00000255039.1	37	c.295G>T	CCDS1148.1	.	.	.	.	.	.	.	.	.	.	g	9.211	1.030878	0.19590	.	.	ENSG00000132702	ENST00000255039;ENST00000544775;ENST00000456112	T;T	0.71817	-0.6;-0.6	4.11	3.2	0.36748	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.235170	0.05686	N	0.591399	T	0.74928	0.3781	M	0.66939	2.045	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.57573	-0.7788	10	0.72032	D	0.01	-1.4476	9.1243	0.36805	0.0:0.1598:0.6752:0.1649	.	99	Q9GZV7	HPLN2_HUMAN	W	99;72;99	ENSP00000255039:G99W;ENSP00000388835:G99W	ENSP00000255039:G99W	G	+	1	0	HAPLN2	154860432	0.008000	0.16893	0.208000	0.23602	0.038000	0.13279	1.906000	0.39887	1.097000	0.41459	-0.217000	0.12591	GGG		0.687	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		5	111	1	0	5.9392e-07	1	7.11488e-07	5	111				
UBC	7316	broad.mit.edu	37	12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1048-1050)gCc>gTc		ubiquitin C							191.0	172.0	179.0					12																	125397269		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397269G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1049C>T	12.37:g.125397269G>A	ENSP00000441543:p.Ala350Val					UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000538617.1_Intron	p.A350V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2625	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		350			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.1049C>T	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416852	0.62511	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.74842	-0.88;-0.88;-0.88	3.17	3.17	0.36434	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.343088	0.19197	N	0.120281	T	0.82226	0.4991	M	0.74546	2.27	0.80722	D	1	P;P;P	0.46621	0.881;0.668;0.715	P;P;B	0.57244	0.816;0.63;0.365	D	0.84144	0.0419	10	0.72032	D	0.01	.	11.8774	0.52554	0.0:0.0:1.0:0.0	.	439;350;350	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	350;350;274;350;274	ENSP00000441543:A350V;ENSP00000344818:A350V;ENSP00000438394:A274V	ENSP00000344818:A350V	A	-	2	0	UBC	123963222	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.436000	0.80404	1.615000	0.50252	0.556000	0.70494	GCC		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		8	1166	0	0	0	1	0	8	1166				
TRIM16L	147166	broad.mit.edu	37	17	18634465	18634465	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:18634465G>A	ENST00000449552.2	+	5	1768	c.284G>A	c.(283-285)cGc>cAc	p.R95H	TRIM16L_ENST00000395902.3_Missense_Mutation_p.R149H|TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R95H|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R95H			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	95						cytoplasm (GO:0005737)		p.R95H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TCGGGCATCCGCAAAGTTATC	0.443																																						ENST00000449552.2																			1	Substitution - Missense(1)	p.R95H(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(283-285)cGc>cAc		tripartite motif containing 16-like							82.0	75.0	77.0					17																	18634465		2202	4300	6502	SO:0001583	missense	147166					cytoplasm		g.chr17:18634465G>A	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.284G>A	17.37:g.18634465G>A	ENSP00000461386:p.Arg95His					TRIM16L_ENST00000395902.3_Missense_Mutation_p.R149H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R95H|TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000395671.4_Missense_Mutation_p.R95H	p.R95H			Q309B1	TR16L_HUMAN			5	1768	+			95					A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	c.284G>A	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	g	6.943	0.543701	0.13250	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.69306	-0.39;-0.35;-0.35	3.34	1.08	0.20341	.	0.505333	0.19169	U	0.120992	T	0.46464	0.1394	L	0.27053	0.805	0.27535	N	0.950972	B;B;B	0.16603	0.018;0.018;0.018	B;B;B	0.10450	0.005;0.004;0.005	T	0.34279	-0.9835	10	0.48119	T	0.1	-15.3991	4.4089	0.11423	0.4614:0.0:0.5386:0.0	.	149;311;95	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	H	149;95;95	ENSP00000379239:R149H;ENSP00000379031:R95H;ENSP00000379030:R95H	ENSP00000379030:R95H	R	+	2	0	TRIM16L	18575190	0.986000	0.35501	1.000000	0.80357	0.454000	0.32378	1.469000	0.35343	0.609000	0.30018	0.405000	0.27470	CGC		0.443	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		5	365	0	0	0	1	0	5	365				
UNC13A	23025	broad.mit.edu	37	19	17753758	17753758	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:17753758C>A	ENST00000519716.2	-	20	2367	c.2368G>T	c.(2368-2370)Gac>Tac	p.D790Y	UNC13A_ENST00000551649.1_Missense_Mutation_p.D790Y|UNC13A_ENST00000252773.7_Missense_Mutation_p.D790Y|UNC13A_ENST00000428389.2_Missense_Mutation_p.D878Y|UNC13A_ENST00000552293.1_Missense_Mutation_p.D790Y|UNC13A_ENST00000550896.1_Missense_Mutation_p.D788Y	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	790					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCAGATTTGTCAGTTCGCTTG	0.502																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2632-2634)Gac>Tac		unc-13 homolog A (C. elegans)							43.0	44.0	44.0					19																	17753758		1957	4136	6093	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17753758C>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2368G>T	19.37:g.17753758C>A	ENSP00000429562:p.Asp790Tyr					UNC13A_ENST00000519716.2_Missense_Mutation_p.D790Y|UNC13A_ENST00000252773.7_Missense_Mutation_p.D790Y|UNC13A_ENST00000552293.1_Missense_Mutation_p.D790Y|UNC13A_ENST00000551649.1_Missense_Mutation_p.D790Y|UNC13A_ENST00000550896.1_Missense_Mutation_p.D788Y	p.D878Y			Q9UPW8	UN13A_HUMAN			21	2631	-			790					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2632G>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.322235	0.60634	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	3.46	3.46	0.39613	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.83031	0.5166	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.85752	0.1344	10	0.87932	D	0	-24.2379	12.7835	0.57491	0.0:1.0:0.0:0.0	.	790	Q9UPW8	UN13A_HUMAN	Y	790;878;790;790;790;788	ENSP00000429562:D790Y;ENSP00000400409:D878Y;ENSP00000252773:D790Y;ENSP00000447236:D790Y;ENSP00000447572:D790Y;ENSP00000446831:D788Y	ENSP00000252773:D790Y	D	-	1	0	UNC13A	17614758	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.545000	0.82128	1.658000	0.50742	0.313000	0.20887	GAC		0.502	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		4	99	1	0	2.56e-06	1	3.04597e-06	4	99				
SLC25A25	114789	broad.mit.edu	37	9	130869557	130869557	+	Missense_Mutation	SNP	C	C	T	rs373230180		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:130869557C>T	ENST00000373064.5	+	10	1507	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	RP11-395P17.11_ENST00000602939.1_RNA|SLC25A25_ENST00000373068.2_Missense_Mutation_p.P449L|SLC25A25_ENST00000373066.5_Missense_Mutation_p.P447L|SLC25A25_ENST00000432073.2_Missense_Mutation_p.P435L|SLC25A25_ENST00000433501.1_Missense_Mutation_p.P312L|SLC25A25_ENST00000373069.5_Missense_Mutation_p.P461L	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	415					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GAGGGCGCTCCGGAGGTGACC	0.632																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(1339-1341)cCg>cTg		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	52.0	57.0	55.0		1346,1304,935,1244	4.7	0.0	9		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SLC25A25	NM_001006641.1,NM_001006642.1,NM_001006643.1,NM_052901.2	98,98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	449/504,435/490,312/367,415/470	130869557	1,13005	2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130869557C>T	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.1244C>T	9.37:g.130869557C>T	ENSP00000362155:p.Pro415Leu					SLC25A25_ENST00000373069.5_Missense_Mutation_p.P461L|SLC25A25_ENST00000373068.2_Missense_Mutation_p.P449L|SLC25A25_ENST00000373064.5_Missense_Mutation_p.P415L|SLC25A25_ENST00000433501.1_Missense_Mutation_p.P312L|SLC25A25_ENST00000432073.2_Missense_Mutation_p.P435L	p.P447L	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			11	1747	+			415					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.1340C>T	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057177	0.36277	0.0	1.16E-4	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.62	4.71	0.59529	Mitochondrial carrier domain (2);	0.051852	0.85682	D	0.000000	T	0.79941	0.4533	L	0.58810	1.83	0.80722	D	1	B;P;P;D	0.56521	0.354;0.72;0.556;0.976	B;B;B;P	0.49361	0.132;0.222;0.14;0.608	T	0.80910	-0.1171	10	0.48119	T	0.1	-15.6239	15.7517	0.77992	0.0:0.8635:0.1365:0.0	.	415;447;435;449	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	L	449;461;435;447;415;312	ENSP00000362159:P449L;ENSP00000362160:P461L;ENSP00000410053:P435L;ENSP00000362157:P447L;ENSP00000362155:P415L;ENSP00000401672:P312L	ENSP00000362155:P415L	P	+	2	0	SLC25A25	129909378	1.000000	0.71417	0.045000	0.18777	0.536000	0.34869	4.824000	0.62701	1.354000	0.45846	0.655000	0.94253	CCG		0.632	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		6	558	0	0	0	1	0	6	558				
ZNF787	126208	broad.mit.edu	37	19	56600294	56600294	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56600294G>A	ENST00000270459.3	-	3	365	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGCTGGTGCCGCGTCAGCTTG	0.721																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(247-249)Cgg>Tgg		zinc finger protein 787							14.0	15.0	15.0					19																	56600294		2187	4273	6460	SO:0001583	missense	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600294G>A	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.247C>T	19.37:g.56600294G>A	ENSP00000270459:p.Arg83Trp						p.R83W	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	365	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	83					O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.247C>T	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406781	0.62399	.	.	ENSG00000142409	ENST00000270459	T	0.56275	0.47	3.22	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73860	0.3641	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.78902	-0.2021	9	0.59425	D	0.04	-20.4997	12.27	0.54700	0.0:0.0:1.0:0.0	.	83	Q6DD87	ZN787_HUMAN	W	83	ENSP00000270459:R83W	ENSP00000270459:R83W	R	-	1	2	ZNF787	61292106	0.000000	0.05858	0.980000	0.43619	0.978000	0.69477	-0.893000	0.04127	1.812000	0.52913	0.462000	0.41574	CGG		0.721	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		43	133	0	0	0	1	0	43	133				
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(421-423)aAg>aGg		RALBP1 associated Eps domain containing 1							196.0	180.0	186.0					6																	139266690		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266690T>C		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422A>G	6.37:g.139266690T>C	ENSP00000392065:p.Lys141Arg					REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R	p.K141R			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	996	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.422A>G		.	.	.	.	.	.	.	.	.	.	T	19.61	3.859918	0.71834	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.42;1.42;1.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.40543	1.245	0.47441	D	0.999424	D;P;D;P	0.67145	0.996;0.59;0.995;0.455	P;B;P;B	0.60609	0.877;0.081;0.776;0.055	T	0.02909	-1.1095	10	0.25751	T	0.34	-11.9965	14.408	0.67096	0.0:0.0:0.0:1.0	.	141;141;141;141	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	R	141;141;127;141;141;141;89	ENSP00000392065:K141R;ENSP00000356635:K141R;ENSP00000434251:K127R;ENSP00000386699:K141R;ENSP00000258062:K141R;ENSP00000397941:K141R	ENSP00000258062:K141R	K	-	2	0	REPS1	139308383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.421000	0.73353	2.145000	0.66743	0.454000	0.30748	AAG		0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			6	859	0	0	0	1	0	6	859				
DPF1	8193	broad.mit.edu	37	19	38704302	38704302	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:38704302G>A	ENST00000420980.2	-	9	968	c.942C>T	c.(940-942)tgC>tgT	p.C314C	DPF1_ENST00000416611.1_Silent_p.C332C|DPF1_ENST00000412732.1_Silent_p.C276C|DPF1_ENST00000414789.1_Silent_p.C276C|DPF1_ENST00000456296.1_Silent_p.C332C|DPF1_ENST00000355526.4_Silent_p.C358C	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	314					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGAGGTTCCGCACAGGCTGC	0.657																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(994-996)tgC>tgT		D4, zinc and double PHD fingers family 1							66.0	63.0	64.0					19																	38704302		2203	4300	6503	SO:0001819	synonymous_variant	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38704302G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.942C>T	19.37:g.38704302G>A						DPF1_ENST00000412732.1_Silent_p.C276C|DPF1_ENST00000355526.4_Silent_p.C358C|DPF1_ENST00000420980.2_Silent_p.C314C|DPF1_ENST00000456296.1_Silent_p.C332C|DPF1_ENST00000414789.1_Silent_p.C276C	p.C332C			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		10	1119	-	all_cancers(60;1.24e-06)		314					B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	c.996C>T	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275753	0.23307	.	.	ENSG00000011332	ENST00000355526	.	.	.	4.05	-7.35	0.01422	.	.	.	.	.	T	0.59348	0.2187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64015	-0.6506	4	.	.	.	-9.9159	13.5839	0.61919	0.724:0.0:0.276:0.0	.	.	.	.	W	351	.	.	R	-	1	2	DPF1	43396142	0.042000	0.20092	0.916000	0.36221	0.910000	0.53928	-0.697000	0.05098	-1.258000	0.02471	-0.390000	0.06520	CGG		0.657	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			6	484	0	0	0	1	0	6	484				
PRADC1	84279	broad.mit.edu	37	2	73457283	73457283	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:73457283G>A	ENST00000258083.2	-	2	193	c.126C>T	c.(124-126)taC>taT	p.Y42Y	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	42						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						CTGTGAAGATGTATCGAATGT	0.488																																						ENST00000258083.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(124-126)taC>taT		protease-associated domain containing 1							81.0	74.0	76.0					2																	73457283		2203	4300	6503	SO:0001819	synonymous_variant	84279					extracellular region		g.chr2:73457283G>A	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"""protease-associated domain-containing glycoprotein 21 kDa"""		"""chromosome 2 open reading frame 7"""	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.126C>T	2.37:g.73457283G>A						PRADC1_ENST00000480093.1_5'UTR	p.Y42Y	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN			2	193	-			42					Q2Z1P2	Silent	SNP	ENST00000258083.2	37	c.126C>T	CCDS1924.1																																																																																				0.488	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319		61	178	0	0	0	1	0	61	178				
NOP9	161424	broad.mit.edu	37	14	24771231	24771231	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:24771231G>A	ENST00000267425.3	+	4	962	c.869G>A	c.(868-870)cGc>cAc	p.R290H	DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.R290H|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	290							poly(A) RNA binding (GO:0044822)										GTTTTACACCGCAAACTTCCC	0.488																																						ENST00000267425.3																			0											c.(868-870)cGc>cAc		NOP9 nucleolar protein							153.0	156.0	155.0					14																	24771231		2203	4300	6503	SO:0001583	missense	161424							g.chr14:24771231G>A		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.869G>A	14.37:g.24771231G>A	ENSP00000267425:p.Arg290His					NOP9_ENST00000396802.3_Missense_Mutation_p.R290H	p.R290H	NM_174913.1	NP_777573.1					4	962	+								A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.869G>A	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431357	0.12045	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32515	1.48;1.45	5.21	2.37	0.29283	Armadillo-type fold (1);	0.221477	0.43919	N	0.000519	T	0.28962	0.0719	L	0.59436	1.845	0.33369	D	0.573359	B	0.18310	0.027	B	0.14578	0.011	T	0.26573	-1.0099	10	0.39692	T	0.17	-12.7136	11.6348	0.51198	0.2276:0.0:0.7724:0.0	.	290	Q86U38	CN021_HUMAN	H	290	ENSP00000267425:R290H;ENSP00000380020:R290H	ENSP00000267425:R290H	R	+	2	0	C14orf21	23841071	0.193000	0.23313	0.935000	0.37517	0.006000	0.05464	1.015000	0.29963	0.084000	0.17077	-0.797000	0.03246	CGC		0.488	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			8	997	0	0	0	1	0	8	997				
HERC2P3	283755	broad.mit.edu	37	15	20644017	20644017	+	RNA	SNP	G	G	A	rs143166324		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:20644017G>A	ENST00000428453.1	-	0	3442							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCCAGGACCGCCATGAGGCC	0.602																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35										G		1,4335		0,1,2167	23.0	19.0	21.0			2.9	1.0	15	dbSNP_134	21	0,8402		0,0,4201	no	intergenic				0,1,6368	AA,AG,GG		0.0,0.0231,0.0079			20644017	1,12737	2168	4201	6369			0							g.chr15:20644017G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644017G>A														0	3442	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.602	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	162	0	0	0	1	0	4	162				
PKDREJ	10343	broad.mit.edu	37	22	46658194	46658194	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:46658194G>A	ENST00000253255.5	-	1	1025	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	342	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTTGGCATCGCCAAGCATCA	0.572																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1024-1026)ggC>ggT		polycystin (PKD) family receptor for egg jelly							113.0	117.0	116.0					22																	46658194		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658194G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1026C>T	22.37:g.46658194G>A							p.G342G	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1025	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	342			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1026C>T	CCDS14073.1																																																																																				0.572	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		7	1059	0	0	0	1	0	7	1059				
MYH15	22989	broad.mit.edu	37	3	108107854	108107854	+	Missense_Mutation	SNP	C	C	T	rs201084859	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:108107854C>T	ENST00000273353.3	-	39	5614	c.5558G>A	c.(5557-5559)cGc>cAc	p.R1853H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1853						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCAAGTCTGCGGGCTCCCCT	0.547													C|||	2	0.000399361	0.0	0.0	5008	,	,		18280	0.002		0.0	False		,,,				2504	0.0					ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5557-5559)cGc>cAc		myosin, heavy chain 15		C	HIS/ARG	0,4028		0,0,2014	114.0	120.0	118.0		5558	1.0	0.0	3		118	2,8348		0,2,4173	yes	missense	MYH15	NM_014981.1	29	0,2,6187	TT,TC,CC		0.024,0.0,0.0162	benign	1853/1947	108107854	2,12376	2014	4175	6189	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108107854C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5558G>A	3.37:g.108107854C>T	ENSP00000273353:p.Arg1853His						p.R1853H	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			39	5614	-			1853						Missense_Mutation	SNP	ENST00000273353.3	37	c.5558G>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404572	0.62288	0.0	2.4E-4	ENSG00000144821	ENST00000273353	D	0.86230	-2.09	5.98	1.03	0.20045	Myosin tail (1);	.	.	.	.	D	0.84343	0.5451	M	0.68317	2.08	0.22226	N	0.999271	P	0.42161	0.772	B	0.41723	0.365	T	0.73711	-0.3897	9	0.56958	D	0.05	.	6.5404	0.22377	0.2264:0.6047:0.0:0.1689	.	1853	Q9Y2K3	MYH15_HUMAN	H	1853	ENSP00000273353:R1853H	ENSP00000273353:R1853H	R	-	2	0	MYH15	109590544	0.966000	0.33281	0.000000	0.03702	0.225000	0.24961	1.270000	0.33086	-0.089000	0.12484	0.655000	0.94253	CGC		0.547	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		7	466	0	0	0	1	0	7	466				
CBLL1	79872	broad.mit.edu	37	7	107398626	107398626	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:107398626G>A	ENST00000440859.3	+	6	946	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.R159Q	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	160	HYB domain. {ECO:0000250}.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CAGTGTACACGAGGTTCTCTC	0.378																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(478-480)cGa>cAa		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							107.0	95.0	99.0					7																	107398626		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107398626G>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.479G>A	7.37:g.107398626G>A	ENSP00000401277:p.Arg160Gln					CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.R159Q	p.R160Q	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			6	946	+			160					B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.479G>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860457	0.71834	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.32753	1.45;1.44;1.48	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.77004	0.989;0.755	T	0.36432	-0.9748	10	0.28530	T	0.3	-2.0467	15.7175	0.77681	0.0:0.1374:0.8626:0.0	.	159;160	B7ZM03;Q75N03	.;HAKAI_HUMAN	Q	160;39;159;110;106	ENSP00000401277:R160Q;ENSP00000222597:R159Q;ENSP00000410615:R110Q	ENSP00000222597:R159Q	R	+	2	0	CBLL1	107185862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.543000	0.98089	1.259000	0.44117	0.655000	0.94253	CGA		0.378	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		123	293	0	0	0	1	0	123	293				
ATP2B4	493	broad.mit.edu	37	1	203678532	203678532	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:203678532G>A	ENST00000357681.5	+	11	2784	c.1661G>A	c.(1660-1662)cGt>cAt	p.R554H	ATP2B4_ENST00000341360.2_Missense_Mutation_p.R554H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R542H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R554H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R554H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	554					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGGCTGTGCGTAATGAAGTG	0.547																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1660-1662)cGt>cAt		ATPase, Ca++ transporting, plasma membrane 4							102.0	87.0	92.0					1																	203678532		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203678532G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1661G>A	1.37:g.203678532G>A	ENSP00000350310:p.Arg554His					ATP2B4_ENST00000391954.2_Missense_Mutation_p.R554H|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R542H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R554H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R554H	p.R554H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		11	2784	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		554					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1661G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727528	0.48833	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01;-4.01	5.52	5.52	0.82312	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.50627	D	0.000113	D	0.98128	0.9382	M	0.84219	2.685	0.80722	D	1	B;D;B	0.76494	0.355;0.999;0.169	B;D;B	0.68039	0.089;0.955;0.029	D	0.98888	1.0772	10	0.87932	D	0	-12.7344	19.0349	0.92972	0.0:0.0:1.0:0.0	.	554;554;554	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	H	554;554;542;554;554	ENSP00000350310:R554H;ENSP00000356187:R554H;ENSP00000356188:R542H;ENSP00000375816:R554H;ENSP00000340930:R554H	ENSP00000340930:R554H	R	+	2	0	ATP2B4	201945155	1.000000	0.71417	0.694000	0.30210	0.036000	0.12997	9.828000	0.99408	2.590000	0.87494	0.563000	0.77884	CGT		0.547	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		5	448	0	0	0	1	0	5	448				
DOCK6	57572	broad.mit.edu	37	19	11363475	11363475	+	Missense_Mutation	SNP	C	C	T	rs555194695		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:11363475C>T	ENST00000294618.7	-	3	303	c.292G>A	c.(292-294)Ggg>Agg	p.G98R		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	98					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTGGGGATCCCGGGCTCCGTG	0.637																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(292-294)Ggg>Agg		dedicator of cytokinesis 6							23.0	26.0	25.0					19																	11363475		1947	4138	6085	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11363475C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.292G>A	19.37:g.11363475C>T	ENSP00000294618:p.Gly98Arg						p.G98R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			3	303	-			98					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.292G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	8.450	0.852942	0.17106	.	.	ENSG00000130158	ENST00000294618	T	0.40225	1.04	4.59	3.47	0.39725	.	0.237733	0.36338	N	0.002658	T	0.25005	0.0607	N	0.22421	0.69	0.80722	D	1	P	0.37398	0.593	B	0.29524	0.103	T	0.10132	-1.0643	10	0.33141	T	0.24	-29.2602	12.9682	0.58497	0.0:0.8359:0.1641:0.0	.	98	Q96HP0	DOCK6_HUMAN	R	98	ENSP00000294618:G98R	ENSP00000294618:G98R	G	-	1	0	DOCK6	11224475	0.162000	0.22906	0.756000	0.31282	0.409000	0.31022	1.594000	0.36697	2.100000	0.63781	0.561000	0.74099	GGG		0.637	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		4	189	0	0	0	1	0	4	189				
SLITRK4	139065	broad.mit.edu	37	X	142716991	142716991	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:142716991C>T	ENST00000381779.4	-	2	2159	c.1934G>A	c.(1933-1935)cGc>cAc	p.R645H	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R645H|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R645H	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	645						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTGTTGCGTCGCAGGAC	0.458																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1933-1935)cGc>cAc		SLIT and NTRK-like family, member 4							99.0	99.0	99.0					X																	142716991		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716991C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1934G>A	X.37:g.142716991C>T	ENSP00000371198:p.Arg645His					SLITRK4_ENST00000338017.4_Missense_Mutation_p.R645H|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R645H	p.R645H	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2159	-	Acute lymphoblastic leukemia(192;6.56e-05)		645					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1934G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337263	0.81911	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.68331	-0.32;-0.32;-0.32	5.36	5.36	0.76844	.	0.000000	0.85682	U	0.000000	T	0.80607	0.4655	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82880	-0.0238	10	0.87932	D	0	-5.7493	16.5642	0.84574	0.0:1.0:0.0:0.0	.	645	Q8IW52	SLIK4_HUMAN	H	645	ENSP00000371198:R645H;ENSP00000349400:R645H;ENSP00000336627:R645H	ENSP00000336627:R645H	R	-	2	0	SLITRK4	142544657	1.000000	0.71417	0.879000	0.34478	0.993000	0.82548	7.818000	0.86416	2.224000	0.72417	0.513000	0.50165	CGC		0.458	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		8	320	0	0	0	1	0	8	320				
OASL	8638	broad.mit.edu	37	12	121469326	121469326	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:121469326G>A	ENST00000257570.5	-	3	846	c.576C>T	c.(574-576)agC>agT	p.S192S	OASL_ENST00000339275.5_Silent_p.S192S	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	192					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGCAGCTCGCTGAAGGATG	0.577																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(574-576)agC>agT		2'-5'-oligoadenylate synthetase-like							98.0	91.0	93.0					12																	121469326		2203	4300	6503	SO:0001819	synonymous_variant	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121469326G>A	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.576C>T	12.37:g.121469326G>A						OASL_ENST00000339275.5_Silent_p.S192S	p.S192S	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN			3	846	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		192					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Silent	SNP	ENST00000257570.5	37	c.576C>T	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	G	9.287	1.049713	0.19827	.	.	ENSG00000135114	ENST00000543677	.	.	.	5.65	-5.04	0.02964	.	.	.	.	.	T	0.39937	0.1097	.	.	.	0.37314	D	0.909245	.	.	.	.	.	.	T	0.42616	-0.9441	4	.	.	.	-11.2817	4.4545	0.11637	0.4092:0.0:0.261:0.3298	.	.	.	.	V	90	.	.	A	-	2	0	OASL	119953709	0.241000	0.23857	0.777000	0.31699	0.888000	0.51559	-0.946000	0.03905	-0.841000	0.04200	-0.150000	0.13652	GCG		0.577	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		6	459	0	0	0	1	0	6	459				
VRK3	51231	broad.mit.edu	37	19	50492897	50492897	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:50492897G>A	ENST00000599538.1	-	11	1759	c.1095C>T	c.(1093-1095)tgC>tgT	p.C365C	VRK3_ENST00000443401.2_Splice_Site_p.C134C|VRK3_ENST00000601341.1_Splice_Site_p.C315C|VRK3_ENST00000593919.1_Splice_Site_p.C365C|VRK3_ENST00000594948.1_Splice_Site_p.C365C|VRK3_ENST00000316763.3_Splice_Site_p.C365C|VRK3_ENST00000594092.1_Splice_Site_p.C365C|VRK3_ENST00000424804.2_5'Flank|VRK3_ENST00000377011.2_Splice_Site_p.C315C|VRK3_ENST00000601912.1_Splice_Site_p.C315C			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	365	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GCCTCGTACCGCATCCCTTGT	0.582																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.e11+1		vaccinia related kinase 3							93.0	75.0	81.0					19																	50492897		2203	4300	6503	SO:0001630	splice_region_variant	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50492897G>A	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.1096+1C>T	19.37:g.50492897G>A						VRK3_ENST00000601912.1_Splice_Site_p.C315_splice|VRK3_ENST00000316763.3_Splice_Site_p.C365_splice|VRK3_ENST00000601341.1_Splice_Site_p.C315_splice|VRK3_ENST00000593919.1_Splice_Site_p.C365_splice|VRK3_ENST00000594092.1_Splice_Site_p.C365_splice|VRK3_ENST00000443401.2_Splice_Site_p.C134_splice|VRK3_ENST00000377011.2_Splice_Site_p.C315_splice|VRK3_ENST00000594948.1_Splice_Site_p.C365_splice	p.C365_splice			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	11	1759	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	365			Protein kinase.		A6NEG5|A8KA53|Q502Y2|Q9P2V8	Splice_Site	SNP	ENST00000599538.1	37	c.1096_splice	CCDS12791.1																																																																																				0.582	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440	Silent	4	172	0	0	0	1	0	4	172				
MTPAP	55149	broad.mit.edu	37	10	30653858	30653858	+	Silent	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:30653858A>C	ENST00000358107.4	-	2	323	c.324T>G	c.(322-324)ggT>ggG	p.G108G	RN7SL241P_ENST00000482973.2_RNA|MTPAP_ENST00000488290.1_5'UTR|AL161651.1_ENST00000408070.1_RNA			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						cacccaccccacccccacccc	0.642																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(322-324)ggT>ggG		mitochondrial poly(A) polymerase																																				SO:0001819	synonymous_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30653858A>C	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.324T>G	10.37:g.30653858A>C						MTPAP_ENST00000488290.1_5'UTR	p.G108G			Q9NVV4	PAPD1_HUMAN			2	323	-			0					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000358107.4	37	c.324T>G																																																																																					0.642	MTPAP-201	KNOWN	basic	protein_coding	protein_coding		NM_018109		5	37	0	0	0	1	0	5	37				
DCHS2	54798	broad.mit.edu	37	4	155156138	155156138	+	Silent	SNP	C	C	T	rs572747172		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:155156138C>T	ENST00000357232.4	-	25	8300	c.8301G>A	c.(8299-8301)acG>acA	p.T2767T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2767					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCAGAGGTCGTCTGAGTTG	0.418																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(8299-8301)acG>acA		dachsous cadherin-related 2							100.0	95.0	97.0					4																	155156138		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156138C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8301G>A	4.37:g.155156138C>T							p.T2767T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8300	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2767					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.8301G>A	CCDS3785.1																																																																																				0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		12	301	0	0	0	1	0	12	301				
FIGNL1	63979	broad.mit.edu	37	7	50513641	50513641	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:50513641G>T	ENST00000419119.1	-	2	2898	c.1345C>A	c.(1345-1347)Cta>Ata	p.L449I	FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449I|FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449I|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449I			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	449					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.L449L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGCCAATTAGAGTTTTACCA	0.458																																						ENST00000419119.1																			1	Substitution - coding silent(1)	p.L449L(1)	upper_aerodigestive_tract(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1345-1347)Cta>Ata		fidgetin-like 1							52.0	53.0	53.0					7																	50513641		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513641G>T	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1345C>A	7.37:g.50513641G>T	ENSP00000410811:p.Leu449Ile					FIGNL1_ENST00000433017.1_Missense_Mutation_p.L449I|FIGNL1_ENST00000395556.2_Missense_Mutation_p.L449I|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L449I	p.L449I			Q6PIW4	FIGL1_HUMAN			2	2898	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	449					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.1345C>A	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031312	0.75504	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68	5.99	4.18	0.49190	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	D	0.97573	0.9205	M	0.92970	3.365	0.80722	D	1	D	0.64830	0.994	D	0.76071	0.987	D	0.98137	1.0434	10	0.72032	D	0.01	-9.5128	12.3571	0.55182	0.1376:0.0:0.8624:0.0	.	449	Q6PIW4	FIGL1_HUMAN	I	449	ENSP00000349356:L449I;ENSP00000378924:L449I;ENSP00000399997:L449I;ENSP00000410811:L449I	ENSP00000349356:L449I	L	-	1	2	FIGNL1	50481135	1.000000	0.71417	0.899000	0.35326	0.997000	0.91878	6.779000	0.75057	1.538000	0.49270	0.655000	0.94253	CTA		0.458	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		5	374	1	0	1	1	1	5	374				
GNPAT	8443	broad.mit.edu	37	1	231401089	231401089	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:231401089T>C	ENST00000366647.4	+	5	788	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	GNPAT_ENST00000366646.3_Missense_Mutation_p.F146L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	207					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTCGGGTGCCTTTTTCATGCG	0.383																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(619-621)Ttt>Ctt		glyceronephosphate O-acyltransferase							118.0	122.0	120.0					1																	231401089		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231401089T>C	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.619T>C	1.37:g.231401089T>C	ENSP00000355607:p.Phe207Leu					GNPAT_ENST00000366646.3_Missense_Mutation_p.F146L	p.F207L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			5	788	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	207					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.619T>C	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.035589	0.93630	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.25	5.25	0.73442	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.994	D	0.97350	0.9963	10	0.87932	D	0	.	15.4621	0.75366	0.0:0.0:0.0:1.0	.	146;207	B4DNM9;O15228	.;GNPAT_HUMAN	L	146;207;146;197	ENSP00000402811:F146L;ENSP00000355607:F207L;ENSP00000355606:F146L;ENSP00000411640:F197L	ENSP00000355606:F146L	F	+	1	0	GNPAT	229467712	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.630000	0.83225	2.120000	0.65058	0.383000	0.25322	TTT		0.383	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			6	771	0	0	0	1	0	6	771				
MAST1	22983	broad.mit.edu	37	19	12969534	12969534	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:12969534G>T	ENST00000251472.4	+	12	1386	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	MAST1_ENST00000591495.1_Missense_Mutation_p.M445I	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACCTCTGCATGGTCATGGAAT	0.632																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1345-1347)atG>atT		microtubule associated serine/threonine kinase 1							60.0	53.0	56.0					19																	12969534		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12969534G>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1347G>T	19.37:g.12969534G>T	ENSP00000251472:p.Met449Ile					MAST1_ENST00000591495.1_Missense_Mutation_p.M445I	p.M449I	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			12	1386	+			449			Protein kinase.			Missense_Mutation	SNP	ENST00000251472.4	37	c.1347G>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510173	0.85282	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.20200	2.09	4.6	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	N	0.11870	0.19	0.58432	D	0.999999	P;P	0.50819	0.939;0.877	P;P	0.62740	0.906;0.748	T	0.21042	-1.0257	10	0.87932	D	0	-39.1956	15.2839	0.73814	0.0:0.0:1.0:0.0	.	449;449	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	I	449	ENSP00000251472:M449I	ENSP00000251472:M449I	M	+	3	0	MAST1	12830534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.823000	0.99369	2.292000	0.77174	0.561000	0.74099	ATG		0.632	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		4	223	1	0	1	1	1	4	223				
ZNFX1	57169	broad.mit.edu	37	20	47888005	47888005	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:47888005C>T	ENST00000396105.1	-	3	590	c.344G>A	c.(343-345)cGc>cAc	p.R115H	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R115H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R115H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	115							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGTGGTCTGCGGTTCCTACA	0.557																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(343-345)cGc>cAc		zinc finger, NFX1-type containing 1							265.0	233.0	244.0					20																	47888005		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47888005C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.344G>A	20.37:g.47888005C>T	ENSP00000379412:p.Arg115His					ZNFX1_ENST00000371752.1_Missense_Mutation_p.R115H|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R115H	p.R115H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	590	-			115					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.344G>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	4.581	0.107915	0.08780	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744	D;D;D;T	0.87729	-2.02;-2.29;-2.29;-0.91	5.97	-2.45	0.06481	.	0.730054	0.13345	N	0.394848	T	0.71134	0.3304	N	0.11560	0.145	0.21553	N	0.999642	B	0.09022	0.002	B	0.04013	0.001	T	0.54470	-0.8289	10	0.25106	T	0.35	-2.3985	10.7193	0.46032	0.0:0.3405:0.0:0.6595	.	115	Q9P2E3	ZNFX1_HUMAN	H	115	ENSP00000360819:R115H;ENSP00000360817:R115H;ENSP00000379412:R115H;ENSP00000360809:R115H	ENSP00000360809:R115H	R	-	2	0	ZNFX1	47321412	0.233000	0.23772	0.921000	0.36526	0.544000	0.35116	0.059000	0.14322	-0.619000	0.05648	-0.345000	0.07892	CGC		0.557	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		8	1398	0	0	0	1	0	8	1398				
TSHZ2	128553	broad.mit.edu	37	20	51871827	51871827	+	Silent	SNP	G	G	A	rs147016688	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:51871827G>A	ENST00000371497.5	+	2	2717	c.1830G>A	c.(1828-1830)gcG>gcA	p.A610A	TSHZ2_ENST00000329613.6_Silent_p.A607A|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.A607A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	610					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A610A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGATGAAGCGGTGAAGGAGT	0.502																																						ENST00000371497.5																			1	Substitution - coding silent(1)	p.A610A(1)	large_intestine(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1828-1830)gcG>gcA		teashirt zinc finger homeobox 2							92.0	93.0	93.0					20																	51871827		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871827G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1830G>A	20.37:g.51871827G>A						TSHZ2_ENST00000603338.2_Silent_p.A607A|TSHZ2_ENST00000329613.6_Silent_p.A607A	p.A610A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2717	+			610					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1830G>A	CCDS33490.1																																																																																				0.502	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		130	395	0	0	0	1	0	130	395				
EPHA3	2042	broad.mit.edu	37	3	89259649	89259649	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:89259649G>A	ENST00000336596.2	+	3	1018	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E265K|EPHA3_ENST00000452448.2_Missense_Mutation_p.E265K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	265	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGCTATGAAGAAAGAGGTTT	0.403										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(793-795)Gaa>Aaa		EPH receptor A3							153.0	153.0	153.0					3																	89259649		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259649G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.793G>A	3.37:g.89259649G>A	ENSP00000337451:p.Glu265Lys	TSP Lung(6;0.00050)				EPHA3_ENST00000452448.2_Missense_Mutation_p.E265K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E265K	p.E265K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	1018	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	265			Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.793G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606524	0.87157	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.73047	-0.69;2.73;-0.71	5.93	5.93	0.95920	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	M	0.62088	1.915	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.76071	0.987;0.979	T	0.80732	-0.1251	9	.	.	.	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	265;265	P29320;P29320-2	EPHA3_HUMAN;.	K	265	ENSP00000337451:E265K;ENSP00000399926:E265K;ENSP00000419190:E265K	.	E	+	1	0	EPHA3	89342339	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAA		0.403	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		6	915	0	0	0	1	0	6	915				
IFT27	11020	broad.mit.edu	37	22	37163891	37163891	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:37163891C>T	ENST00000433985.2	-	2	470	c.50G>A	c.(49-51)gGc>gAc	p.G17D	IFT27_ENST00000453009.2_5'UTR|IFT27_ENST00000340630.5_Missense_Mutation_p.G16D	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27	17					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)	p.G16D(1)		endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGCGGTCTTGCCCACTGCTGG	0.507																																						ENST00000340630.5																			1	Substitution - Missense(1)	p.G16D(1)	urinary_tract(1)	endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(46-48)gGc>gAc		intraflagellar transport 27 homolog (Chlamydomonas)							193.0	183.0	186.0					22																	37163891		2203	4300	6503	SO:0001583	missense	11020				small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding	g.chr22:37163891C>T	Z80897	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360		"""Intraflagellar transport homologs"", ""RAB, member RAS oncogene"""	18626	protein-coding gene	gene with protein product		615870	"""RAB, member of RAS oncogene family-like 4"", ""intraflagellar transport 27 homolog (Chlamydomonas)"""	RABL4		12529303, 17276912	Standard	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	Q9BW83	OTTHUMG00000150544	ENST00000433985.2:c.50G>A	22.37:g.37163891C>T	ENSP00000393541:p.Gly17Asp					IFT27_ENST00000433985.2_Missense_Mutation_p.G17D|IFT27_ENST00000453009.2_5'UTR	p.G16D	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN			2	492	-			17					O60897	Missense_Mutation	SNP	ENST00000433985.2	37	c.47G>A	CCDS54523.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648873	0.67358	.	.	ENSG00000100360	ENST00000340630;ENST00000433985;ENST00000417951;ENST00000430701	D;D;D;D	0.99418	-5.87;-5.87;-5.87;-5.87	4.5	4.5	0.54988	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	H	0.99379	4.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96538	0.9398	10	0.87932	D	0	.	15.9962	0.80250	0.0:1.0:0.0:0.0	.	56;16;17;16	F5GZ09;B1AH58;Q9BW83;Q9BW83-2	.;.;IFT27_HUMAN;.	D	16;17;56;16	ENSP00000343593:G16D;ENSP00000393541:G17D;ENSP00000392016:G56D;ENSP00000390016:G16D	ENSP00000343593:G16D	G	-	2	0	IFT27	35493837	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	5.905000	0.69893	2.060000	0.61445	0.561000	0.74099	GGC		0.507	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_006860		6	1098	0	0	0	1	0	6	1098				
TNPO1	3842	broad.mit.edu	37	5	72195908	72195908	+	Splice_Site	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:72195908G>A	ENST00000337273.5	+	21	2840	c.2414G>A	c.(2413-2415)tGg>tAg	p.W805*	TNPO1_ENST00000523768.1_Splice_Site_p.W755*|TNPO1_ENST00000454282.1_Splice_Site_p.W755*|TNPO1_ENST00000506351.2_Splice_Site_p.W797*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	805					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.W797*(1)|p.W797L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATAAGACCCTGGTGTGTATTA	0.348																																						ENST00000337273.5																			2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.W797*(1)|p.W797L(1)	urinary_tract(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.e21+1		transportin 1							180.0	167.0	171.0					5																	72195908		2203	4300	6503	SO:0001630	splice_region_variant	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72195908G>A	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2414+1G>A	5.37:g.72195908G>A						TNPO1_ENST00000506351.2_Splice_Site_p.W797_splice|TNPO1_ENST00000523768.1_Splice_Site_p.W755_splice|TNPO1_ENST00000454282.1_Splice_Site_p.W755_splice	p.W805_splice	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	21	2840	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	805					B4DVC6|Q92957|Q92975	Splice_Site	SNP	ENST00000337273.5	37	c.2414_splice	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	38	6.879768	0.97904	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5419	19.1767	0.93605	0.0:0.0:1.0:0.0	.	.	.	.	X	805;755;755;797;316	.	ENSP00000336712:W805X	W	+	2	0	TNPO1	72231664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.619000	0.88677	0.467000	0.42956	TGG		0.348	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	Nonsense_Mutation	166	361	0	0	0	1	0	166	361				
DND1	373863	broad.mit.edu	37	5	140052939	140052939	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140052939G>A	ENST00000542735.1	-	2	102	c.59C>T	c.(58-60)gCg>gTg	p.A20V	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	20					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCGCCGCCTTGTTCTC	0.642																																						ENST00000542735.1																			0				central_nervous_system(1)|prostate(4)	5						c.(58-60)gCg>gTg		DND microRNA-mediated repression inhibitor 1							59.0	59.0	59.0					5																	140052939		2203	4300	6503	SO:0001583	missense	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052939G>A	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.59C>T	5.37:g.140052939G>A	ENSP00000445366:p.Ala20Val					HARS_ENST00000504156.1_3'UTR	p.A20V	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	102	-			20						Missense_Mutation	SNP	ENST00000542735.1	37	c.59C>T	CCDS4236.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290610	0.40494	.	.	ENSG00000256453	ENST00000542735	T	0.34859	1.34	4.58	4.58	0.56647	.	0.209202	0.33457	N	0.004895	T	0.20333	0.0489	N	0.20574	0.59	0.80722	D	1	P	0.35401	0.499	B	0.23716	0.048	T	0.06516	-1.0822	10	0.37606	T	0.19	-6.6743	12.0698	0.53609	0.0868:0.0:0.9132:0.0	.	20	Q8IYX4	DND1_HUMAN	V	20	ENSP00000445366:A20V	ENSP00000445366:A20V	A	-	2	0	DND1	140033123	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.251000	0.43187	2.358000	0.79984	0.462000	0.41574	GCG		0.642	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		84	330	0	0	0	1	0	84	330				
RBM15B	29890	broad.mit.edu	37	3	51430392	51430392	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:51430392G>A	ENST00000323686.4	+	1	1662	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	521					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCCGGCACCGCAACCTGGAC	0.607																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1561-1563)cGc>cAc		RNA binding motif protein 15B							46.0	53.0	51.0					3																	51430392		2203	4300	6503	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430392G>A	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1562G>A	3.37:g.51430392G>A	ENSP00000313890:p.Arg521His						p.R521H	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1662	+			521					A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.1562G>A	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917639	0.73098	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.18657	2.2	5.55	5.55	0.83447	.	.	.	.	.	T	0.30008	0.0751	L	0.57536	1.79	0.80722	D	1	D	0.60575	0.988	P	0.48166	0.569	T	0.03268	-1.1054	9	0.15066	T	0.55	-1.4958	19.497	0.95077	0.0:0.0:1.0:0.0	.	521	Q8NDT2	RB15B_HUMAN	H	521;194	ENSP00000313890:R521H	ENSP00000313890:R521H	R	+	2	0	RBM15B	51405432	1.000000	0.71417	0.665000	0.29768	0.612000	0.37316	7.507000	0.81676	2.605000	0.88082	0.655000	0.94253	CGC		0.607	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		6	464	0	0	0	1	0	6	464				
CPNE8	144402	broad.mit.edu	37	12	39117617	39117617	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:39117617A>T	ENST00000331366.5	-	13	967	c.871T>A	c.(871-873)Ttg>Atg	p.L291M	CPNE8_ENST00000360449.3_Missense_Mutation_p.L279M|CPNE8_ENST00000538596.2_5'Flank	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	291						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GTTTCTACCAAGAAAGAGAGT	0.328																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(871-873)Ttg>Atg		copine VIII							92.0	91.0	91.0					12																	39117617		2203	4300	6503	SO:0001583	missense	144402							g.chr12:39117617A>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.871T>A	12.37:g.39117617A>T	ENSP00000329748:p.Leu291Met					CPNE8_ENST00000360449.3_Missense_Mutation_p.L279M	p.L291M	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			13	967	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	291					Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.871T>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781337	0.49891	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.25085	1.82;1.82	4.51	0.923	0.19413	.	0.174644	0.38720	N	0.001594	T	0.20047	0.0482	L	0.35854	1.095	0.48762	D	0.999705	P	0.37207	0.587	B	0.42882	0.401	T	0.03534	-1.1027	10	0.59425	D	0.04	-5.3906	4.2841	0.10846	0.582:0.1718:0.2463:0.0	.	291	Q86YQ8	CPNE8_HUMAN	M	291;279	ENSP00000329748:L291M;ENSP00000353633:L279M	ENSP00000329748:L291M	L	-	1	2	CPNE8	37403884	0.989000	0.36119	0.997000	0.53966	0.989000	0.77384	0.619000	0.24388	0.317000	0.23160	0.460000	0.39030	TTG		0.328	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		130	386	0	0	0	1	0	130	386				
IFI35	3430	broad.mit.edu	37	17	41165154	41165154	+	Missense_Mutation	SNP	C	C	T	rs139469566	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:41165154C>T	ENST00000415816.2	+	3	434	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	IFI35_ENST00000438323.2_Missense_Mutation_p.R71W	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	71					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		TTCCAATTTGCGGATCCACTG	0.567													C|||	3	0.000599042	0.0	0.0	5008	,	,		19825	0.001		0.001	False		,,,				2504	0.001					ENST00000415816.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(211-213)Cgg>Tgg		interferon-induced protein 35		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	131.0	131.0	131.0		211	1.6	0.0	17	dbSNP_134	131	8,8592	6.4+/-24.3	0,8,4292	yes	missense	IFI35	NM_005533.4	101	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	probably-damaging	71/289	41165154	10,12996	2203	4300	6503	SO:0001583	missense	3430				response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	g.chr17:41165154C>T	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.211C>T	17.37:g.41165154C>T	ENSP00000394579:p.Arg71Trp					IFI35_ENST00000438323.2_Missense_Mutation_p.R71W	p.R71W	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	3	434	+		Breast(137;0.00499)	71					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.211C>T		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.87	2.068639	0.36470	4.54E-4	9.3E-4	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.52983	0.64;0.65	5.03	1.64	0.23874	Interferon induced 35kDa, N-terminal (1);	0.281959	0.34025	N	0.004331	T	0.58807	0.2148	L	0.56769	1.78	0.09310	N	1	D	0.76494	0.999	D	0.63033	0.91	T	0.54370	-0.8304	10	0.72032	D	0.01	.	11.8129	0.52194	0.5556:0.4444:0.0:0.0	.	71	P80217	IN35_HUMAN	W	71	ENSP00000394579:R71W;ENSP00000395590:R71W	ENSP00000394579:R71W	R	+	1	2	IFI35	38418680	0.000000	0.05858	0.010000	0.14722	0.147000	0.21601	0.061000	0.14366	0.160000	0.19432	-0.268000	0.10319	CGG		0.567	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		8	1085	0	0	0	1	0	8	1085				
ABCA13	154664	broad.mit.edu	37	7	48431626	48431626	+	Silent	SNP	G	G	A	rs372260479		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:48431626G>A	ENST00000435803.1	+	38	11787	c.11763G>A	c.(11761-11763)ccG>ccA	p.P3921P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3921	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P3921P(1)|p.P3866P(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGTGTGTCCGCAGCAGGACA	0.552																																						ENST00000435803.1																			2	Substitution - coding silent(2)	p.P3921P(1)|p.P3866P(1)	large_intestine(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11761-11763)ccG>ccA		ATP-binding cassette, sub-family A (ABC1), member 13		G		6,4058		0,6,2026	121.0	125.0	123.0		11763	-10.6	0.0	7		123	0,8362		0,0,4181	no	coding-synonymous	ABCA13	NM_152701.3		0,6,6207	AA,AG,GG		0.0,0.1476,0.0483		3921/5059	48431626	6,12420	2032	4181	6213	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48431626G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11763G>A	7.37:g.48431626G>A							p.P3921P	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			38	11787	+			3921			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11763G>A	CCDS47584.1																																																																																				0.552	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	271	0	0	0	1	0	4	271				
HIPK3	10114	broad.mit.edu	37	11	33369721	33369721	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:33369721G>C	ENST00000303296.4	+	12	2621	c.2316G>C	c.(2314-2316)ttG>ttC	p.L772F	HIPK3_ENST00000525975.1_Intron|HIPK3_ENST00000379016.3_Intron|HIPK3_ENST00000456517.1_Intron	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	772	Interaction with AR. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAGGTATTTTGGTAAAACTAA	0.363																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(2314-2316)ttG>ttC		homeodomain interacting protein kinase 3							85.0	79.0	81.0					11																	33369721		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33369721G>C	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2316G>C	11.37:g.33369721G>C	ENSP00000304226:p.Leu772Phe					HIPK3_ENST00000456517.1_Intron|HIPK3_ENST00000525975.1_Intron|HIPK3_ENST00000379016.3_Intron	p.L772F	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			12	2621	+			772			Interaction with AR (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.2316G>C	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517978	0.27211	.	.	ENSG00000110422	ENST00000303296	T	0.23348	1.91	5.74	5.74	0.90152	.	0.162090	0.29314	N	0.012518	T	0.13713	0.0332	N	0.14661	0.345	0.80722	D	1	P	0.35908	0.527	B	0.33042	0.157	T	0.12066	-1.0562	10	0.09843	T	0.71	.	13.1561	0.59518	0.0728:0.0:0.9272:0.0	.	772	Q9H422	HIPK3_HUMAN	F	772	ENSP00000304226:L772F	ENSP00000304226:L772F	L	+	3	2	HIPK3	33326297	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.785000	0.55424	2.707000	0.92482	0.557000	0.71058	TTG		0.363	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		72	135	0	0	0	1	0	72	135				
SKOR1	390598	broad.mit.edu	37	15	68119756	68119756	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:68119756C>T	ENST00000380035.2	+	2	1648	c.1590C>T	c.(1588-1590)agC>agT	p.S530S	SKOR1_ENST00000389002.1_Silent_p.S486S|SKOR1_ENST00000554054.1_Silent_p.S502S|SKOR1_ENST00000554240.1_Silent_p.S491S|SKOR1_ENST00000341418.5_Intron			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	530					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ctgctggcagcggTGCCCCAG	0.766																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(1588-1590)agC>agT		SKI family transcriptional corepressor 1							2.0	2.0	2.0					15																	68119756		851	1916	2767	SO:0001819	synonymous_variant	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68119756C>T		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1590C>T	15.37:g.68119756C>T						SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000389002.1_Silent_p.S486S|SKOR1_ENST00000554054.1_Silent_p.S502S|SKOR1_ENST00000554240.1_Silent_p.S491S	p.S530S			P84550	SKOR1_HUMAN			2	1648	+			530					A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37	c.1590C>T																																																																																					0.766	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		3	36	0	0	0	1	0	3	36				
PCDHGA5	56110	broad.mit.edu	37	5	140745619	140745619	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140745619C>T	ENST00000518069.1	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCACGGGCGTGGAGCTGG	0.622																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1720-1722)ggC>ggT									111.0	123.0	119.0					5																	140745619		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140745619C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1722C>T	5.37:g.140745619C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.G574G	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1722	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1722C>T	CCDS54925.1																																																																																				0.622	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		286	604	0	0	0	1	0	286	604				
LRRC16A	55604	broad.mit.edu	37	6	25516009	25516009	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:25516009G>A	ENST00000329474.6	+	21	2107	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	580					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GACATTAGCGGCAACGGAATG	0.547																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1738-1740)gGc>gAc		leucine rich repeat containing 16A							55.0	58.0	57.0					6																	25516009		2141	4282	6423	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25516009G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1739G>A	6.37:g.25516009G>A	ENSP00000331983:p.Gly580Asp						p.G580D	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			21	2107	+			580					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1739G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077374	0.94000	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.55052	0.54	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69745	-0.5062	10	0.59425	D	0.04	.	19.9099	0.97023	0.0:0.0:1.0:0.0	.	580;580;580	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	D	580	ENSP00000331983:G580D	ENSP00000331983:G580D	G	+	2	0	LRRC16A	25623988	1.000000	0.71417	0.997000	0.53966	0.858000	0.48976	9.869000	0.99810	2.691000	0.91804	0.650000	0.86243	GGC		0.547	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		3	56	0	0	0	1	0	3	56				
BECN1	8678	broad.mit.edu	37	17	40967986	40967986	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:40967986G>A	ENST00000361523.4	-	8	902	c.770C>T	c.(769-771)gCc>gTc	p.A257V	BECN1_ENST00000590099.1_Missense_Mutation_p.A257V|BECN1_ENST00000438274.3_Missense_Mutation_p.A181V	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	257					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTGCGTCTGGGCATAACGCAT	0.463																																						ENST00000361523.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(769-771)gCc>gTc		beclin 1, autophagy related							241.0	204.0	216.0					17																	40967986		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40967986G>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.770C>T	17.37:g.40967986G>A	ENSP00000355231:p.Ala257Val					BECN1_ENST00000438274.3_Missense_Mutation_p.A181V|BECN1_ENST00000590099.1_Missense_Mutation_p.A257V	p.A257V	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	8	902	-		Breast(137;0.00104)	257					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.770C>T	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830695	0.50845	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.46451	0.87;2.55	5.95	5.95	0.96441	.	0.171847	0.52532	D	0.000064	T	0.34978	0.0916	L	0.33339	1.005	0.58432	D	0.999994	B;B	0.32188	0.359;0.024	B;B	0.29663	0.105;0.094	T	0.07083	-1.0791	10	0.18710	T	0.47	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	181;257	E7EV84;Q14457	.;BECN1_HUMAN	V	257;181;170	ENSP00000355231:A257V;ENSP00000416173:A181V	ENSP00000355231:A257V	A	-	2	0	BECN1	38221512	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	6.847000	0.75404	2.824000	0.97209	0.655000	0.94253	GCC		0.463	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		7	1067	0	0	0	1	0	7	1067				
ZNF644	84146	broad.mit.edu	37	1	91403123	91403123	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:91403123C>A	ENST00000370440.1	-	4	3824	c.3607G>T	c.(3607-3609)Gtt>Ttt	p.V1203F	ZNF644_ENST00000337393.5_Missense_Mutation_p.V1203F|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATTTCTGAACGAATCTCTTT	0.373																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3607-3609)Gtt>Ttt		zinc finger protein 644							120.0	117.0	118.0					1																	91403123		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91403123C>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3607G>T	1.37:g.91403123C>A	ENSP00000359469:p.Val1203Phe					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.V1203F	p.V1203F			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	4	3824	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1203					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.3607G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896860	0.52121	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00605	6.27;6.27	5.89	4.98	0.66077	.	0.424789	0.27871	N	0.017516	T	0.00468	0.0015	N	0.14661	0.345	0.39331	D	0.965418	D	0.69078	0.997	P	0.61397	0.888	T	0.81614	-0.0853	10	0.72032	D	0.01	-8.7804	11.0467	0.47863	0.0:0.8581:0.0:0.1419	.	1203	Q9H582	ZN644_HUMAN	F	1203	ENSP00000359469:V1203F;ENSP00000337008:V1203F	ENSP00000337008:V1203F	V	-	1	0	ZNF644	91175711	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.111000	0.50360	1.490000	0.48466	0.655000	0.94253	GTT		0.373	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		6	508	1	0	3.59834e-05	1	4.25258e-05	6	508				
ZCCHC14	23174	broad.mit.edu	37	16	87451113	87451113	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:87451113G>A	ENST00000268616.4	-	8	1142	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	309							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTGTGCAAACGCAGTTTCCTA	0.502											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(925-927)Cgt>Tgt		zinc finger, CCHC domain containing 14							178.0	188.0	185.0					16																	87451113		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451113G>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.925C>T	16.37:g.87451113G>A	ENSP00000268616:p.Arg309Cys		OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1252		p.R309C	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	1142	-			309					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.925C>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388488	0.82902	.	.	ENSG00000140948	ENST00000268616	T	0.51325	0.71	6.07	6.07	0.98685	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	T	0.67007	-0.5779	10	0.20046	T	0.44	-17.4937	20.6439	0.99570	0.0:0.0:1.0:0.0	.	309;309	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	C	309	ENSP00000268616:R309C	ENSP00000268616:R309C	R	-	1	0	ZCCHC14	86008614	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	8.972000	0.93424	2.884000	0.98904	0.655000	0.94253	CGT		0.502	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		6	939	0	0	0	1	0	6	939				
HK3	3101	broad.mit.edu	37	5	176318141	176318141	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:176318141C>T	ENST00000292432.5	-	4	402	c.311G>A	c.(310-312)cGt>cAt	p.R104H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	104	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAAAACACGCAGTGAGGC	0.602																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(310-312)cGt>cAt		hexokinase 3 (white cell)							57.0	58.0	58.0					5																	176318141		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176318141C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.311G>A	5.37:g.176318141C>T	ENSP00000292432:p.Arg104His						p.R104H	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	402	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	104			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.311G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504410	0.85176	.	.	ENSG00000160883	ENST00000292432	D	0.99724	-6.54	4.96	4.96	0.65561	Hexokinase, N-terminal (1);	0.000000	0.51477	D	0.000081	D	0.99664	0.9875	M	0.87900	2.915	0.32374	N	0.55541	D	0.71674	0.998	D	0.62955	0.909	D	0.97938	1.0324	10	0.62326	D	0.03	-7.6649	17.1545	0.86787	0.0:1.0:0.0:0.0	.	104	P52790	HXK3_HUMAN	H	104	ENSP00000292432:R104H	ENSP00000292432:R104H	R	-	2	0	HK3	176250747	0.996000	0.38824	0.984000	0.44739	0.870000	0.49936	4.152000	0.58111	2.460000	0.83146	0.561000	0.74099	CGT		0.602	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			103	251	0	0	0	1	0	103	251				
CMAS	55907	broad.mit.edu	37	12	22208508	22208508	+	Missense_Mutation	SNP	C	C	T	rs371050975		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:22208508C>T	ENST00000229329.2	+	3	653	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	175					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						TGTTGTGAGACGCCATCAGTT	0.323																																						ENST00000229329.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(523-525)Cgc>Tgc		cytidine monophosphate N-acetylneuraminic acid synthetase		C	CYS/ARG	0,4406		0,0,2203	128.0	119.0	122.0		523	4.7	1.0	12		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	CMAS	NM_018686.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	175/435	22208508	1,13005	2203	4300	6503	SO:0001583	missense	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22208508C>T	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.523C>T	12.37:g.22208508C>T	ENSP00000229329:p.Arg175Cys						p.R175C	NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN			3	653	+			175					Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	c.523C>T	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556378	0.65425	0.0	1.16E-4	ENSG00000111726	ENST00000229329;ENST00000538498	.	.	.	5.59	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	M	0.83483	2.645	0.53005	D	0.999966	D	0.89917	1.0	D	0.74674	0.984	T	0.78800	-0.2062	9	0.45353	T	0.12	-23.7323	10.7671	0.46299	0.1311:0.7998:0.0:0.0691	.	175	Q8NFW8	NEUA_HUMAN	C	175;16	.	ENSP00000229329:R175C	R	+	1	0	CMAS	22099775	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.119000	0.50422	1.363000	0.46019	0.591000	0.81541	CGC		0.323	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		6	521	0	0	0	1	0	6	521				
PCNA	5111	broad.mit.edu	37	20	5100411	5100411	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:5100411G>A	ENST00000379160.3	-	2	276	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	SNORA26_ENST00000391215.1_RNA|PCNA_ENST00000379143.5_Missense_Mutation_p.L12F	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	12	Interaction with NUDT15.				base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						ACCTTCTTGAGGATGGAGCCC	0.597								DNA polymerases (catalytic subunits)																														ENST00000379160.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						c.(34-36)Ctc>Ttc	DNA polymerases (catalytic subunits)	proliferating cell nuclear antigen							46.0	37.0	40.0					20																	5100411		2202	4300	6502	SO:0001583	missense	5111				cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity	g.chr20:5100411G>A	J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.34C>T	20.37:g.5100411G>A	ENSP00000368458:p.Leu12Phe					PCNA_ENST00000379143.5_Missense_Mutation_p.L12F	p.L12F	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN			2	276	-			12			Interaction with NUDT15.		B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	c.34C>T	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458219	0.84317	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	4.96	3.0	0.34707	Proliferating cell nuclear antigen, PCNA, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	L	0.55743	1.74	0.80722	D	1	D;P	0.64830	0.994;0.696	P;P	0.58970	0.849;0.537	T	0.61836	-0.6981	9	0.41790	T	0.15	-5.3455	10.3585	0.43977	0.1626:0.0:0.8374:0.0	.	12;12	B4DUA2;P12004	.;PCNA_HUMAN	F	12	.	ENSP00000368438:L12F	L	-	1	0	PCNA	5048411	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.204000	0.65180	0.794000	0.33899	0.563000	0.77884	CTC		0.597	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2			3	38	0	0	0	1	0	3	38				
BAGE2	85319	broad.mit.edu	37	21	11098764	11098764	+	RNA	SNP	G	G	A	rs111324244		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:11098764G>A	ENST00000470054.1	-	0	161							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		cactcctaccgctcaggccgc	0.622																																						ENST00000470054.1																			0													B melanoma antigen family, member 2		G		1,4271		0,1,2135	87.0	126.0	113.0				0.0	21	dbSNP_132	113	1,8539		0,1,4269	no	intergenic				0,2,6404	AA,AG,GG		0.0117,0.0234,0.0156			11098764	2,12810	2136	4270	6406			85319							g.chr21:11098764G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098764G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	161	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.622	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		119	942	0	0	0	1	0	119	942				
MUC17	140453	broad.mit.edu	37	7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	rs71286275		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2683S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGCAGCATGCCAACCTCAAC	0.493																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2683S(1)	urinary_tract(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8047-8049)Cca>Tca		mucin 17, cell surface associated							225.0	230.0	228.0					7																	100682744		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682744C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8047C>T	7.37:g.100682744C>T	ENSP00000302716:p.Pro2683Ser						p.P2683S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8111	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2683			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8047C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.606	0.112671	0.08831	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04880	-0.145	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.25745	-1.0123	9	0.08599	T	0.76	.	0.3885	0.00406	0.2439:0.3108:0.2431:0.2021	.	2683	Q685J3	MUC17_HUMAN	S	2683	ENSP00000302716:P2683S	ENSP00000302716:P2683S	P	+	1	0	MUC17	100469464	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.262000	0.01175	-0.688000	0.05155	0.134000	0.15878	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	1776	0	0	0	1	0	9	1776				
SCN3A	6328	broad.mit.edu	37	2	165972043	165972043	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:165972043C>T	ENST00000360093.3	-	19	3927	c.3436G>A	c.(3436-3438)Gtt>Att	p.V1146I	SCN3A_ENST00000283254.7_Missense_Mutation_p.V1146I|SCN3A_ENST00000409101.3_Missense_Mutation_p.V1097I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1146					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)			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)	GGTAGAACAACATCAACTGTG	0.398																																						ENST00000360093.3																			0				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.(3436-3438)Gtt>Att		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						124.0	117.0	120.0					2																	165972043		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165972043C>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.3436G>A	2.37:g.165972043C>T	ENSP00000353206:p.Val1146Ile					SCN3A_ENST00000409101.3_Missense_Mutation_p.V1097I|SCN3A_ENST00000283254.7_Missense_Mutation_p.V1146I	p.V1146I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			19	3927	-			1146					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3436G>A		.	.	.	.	.	.	.	.	.	.	C	4.189	0.033659	0.08101	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.22	3.39	0.38822	Sodium ion transport-associated (1);	0.263447	0.26911	N	0.021874	T	0.41328	0.1154	N	0.00176	-1.92	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.15052	0.012;0.001;0.001;0.001;0.007	T	0.53634	-0.8411	10	0.02654	T	1	.	5.2327	0.15430	0.0:0.6001:0.0:0.3999	.	1146;1097;1097;1097;1146	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	I	1146;1146;1097;1097	ENSP00000353206:V1146I;ENSP00000283254:V1146I;ENSP00000386726:V1097I;ENSP00000403348:V1097I	ENSP00000283254:V1146I	V	-	1	0	SCN3A	165680289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.916000	0.48813	1.328000	0.45358	0.563000	0.77884	GTT		0.398	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		5	509	0	0	0	1	0	5	509				
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672													t|||	242	0.0483227	0.1248	0.0202	5008	,	,		19066	0.005		0.0219	False		,,,				2504	0.0368					ENST00000391413.2																			1	Substitution - Missense(1)	p.R51K(1)	endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)aGg>aAg		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274416		682	1579	2261	SO:0001583	missense	653240					keratin filament		g.chr17:39274416C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.152G>A	17.37:g.39274416C>T	ENSP00000375232:p.Arg51Lys						p.R51K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	190	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.152G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.205	0.036712	0.08148	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.47	-1.13	0.09775	.	2.855670	0.02563	U	0.096976	T	0.02610	0.0079	M	0.72118	2.19	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.52283	-0.8596	10	0.05959	T	0.93	.	3.7627	0.08610	0.1684:0.4051:0.0:0.4265	rs408579	51	Q9BYQ6	KR411_HUMAN	K	51	ENSP00000375232:R51K	ENSP00000375232:R51K	R	-	2	0	KRTAP4-11	36527942	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-0.738000	0.04871	-0.091000	0.12440	-0.208000	0.12717	AGG		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	476	0	0	0	1	0	5	476				
ACIN1	22985	broad.mit.edu	37	14	23530745	23530745	+	Silent	SNP	T	T	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:23530745T>G	ENST00000262710.1	-	17	3687	c.3360A>C	c.(3358-3360)ccA>ccC	p.P1120P	ACIN1_ENST00000457657.1_Silent_p.P1080P|ACIN1_ENST00000357481.2_Silent_p.P362P|ACIN1_ENST00000557515.1_Silent_p.P361P|ACIN1_ENST00000605057.1_Silent_p.P1062P|ACIN1_ENST00000555053.1_Silent_p.P1107P|ACIN1_ENST00000338631.6_Silent_p.P393P|ACIN1_ENST00000397341.3_Silent_p.P362P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1120	Pro-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGGGTGGGGGTGGGGGGTGCA	0.657																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3358-3360)ccA>ccC		apoptotic chromatin condensation inducer 1							7.0	10.0	9.0					14																	23530745		2074	3973	6047	SO:0001819	synonymous_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530745T>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3360A>C	14.37:g.23530745T>G						ACIN1_ENST00000457657.1_Silent_p.P1080P|ACIN1_ENST00000397341.3_Silent_p.P362P|ACIN1_ENST00000357481.2_Silent_p.P362P|ACIN1_ENST00000605057.1_Silent_p.P1062P|ACIN1_ENST00000555053.1_Silent_p.P1107P|ACIN1_ENST00000557515.1_Silent_p.P361P|ACIN1_ENST00000338631.6_Silent_p.P393P	p.P1120P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3687	-	all_cancers(95;1.36e-05)		1120			Pro-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	c.3360A>C	CCDS9587.1																																																																																				0.657	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		9	75	0	0	0	1	0	9	75				
TIAL1	7073	broad.mit.edu	37	10	121336158	121336158	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:121336158G>A	ENST00000436547.2	-	11	1010	c.966C>T	c.(964-966)taC>taT	p.Y322Y	TIAL1_ENST00000369093.2_Silent_p.Y339Y|TIAL1_ENST00000463089.2_5'UTR|TIAL1_ENST00000369092.4_Silent_p.Y199Y	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	322					apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		ATGGTTGCCCGTATACTCCAT	0.413																																						ENST00000369092.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13						c.(595-597)taC>taT		TIA1 cytotoxic granule-associated RNA binding protein-like 1							193.0	176.0	182.0					10																	121336158		2203	4300	6503	SO:0001819	synonymous_variant	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121336158G>A	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.966C>T	10.37:g.121336158G>A						TIAL1_ENST00000463089.2_5'UTR|TIAL1_ENST00000369093.2_Silent_p.Y339Y|TIAL1_ENST00000436547.2_Silent_p.Y322Y	p.Y199Y			Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	12	1905	-		Lung NSC(174;0.094)|all_lung(145;0.123)	322					A8K3T0|A8K4L9	Silent	SNP	ENST00000436547.2	37	c.597C>T	CCDS7613.1																																																																																				0.413	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		6	851	0	0	0	1	0	6	851				
PDE4B	5142	broad.mit.edu	37	1	66458687	66458687	+	Intron	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:66458687C>T	ENST00000329654.4	+	3	468				PDE4B_ENST00000423207.2_Missense_Mutation_p.P33L|PDE4B_ENST00000371049.3_Intron	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CTTGAGCTTCCGAGATTACCA	0.408																																						ENST00000423207.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(97-99)cCg>cTg		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						107.0	102.0	104.0					1																	66458687		2203	4300	6503	SO:0001627	intron_variant	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66458687C>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.281+74169C>T	1.37:g.66458687C>T						PDE4B_ENST00000329654.4_Intron|PDE4B_ENST00000371049.3_Intron	p.P33L	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN			1	583	+			0					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.98C>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023244	0.75275	.	.	ENSG00000184588	ENST00000423207	T	0.71222	-0.55	5.52	5.52	0.82312	.	.	.	.	.	T	0.75737	0.3890	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.73594	-0.3933	9	0.45353	T	0.12	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	38	Q59GM8	.	L	33	ENSP00000392947:P33L	ENSP00000392947:P33L	P	+	2	0	PDE4B	66231275	1.000000	0.71417	0.976000	0.42696	0.685000	0.39939	7.267000	0.78462	2.878000	0.98634	0.650000	0.86243	CCG		0.408	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		5	304	0	0	0	1	0	5	304				
TRPC1	7220	broad.mit.edu	37	3	142467269	142467269	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:142467269C>A	ENST00000476941.1	+	4	1085	c.599C>A	c.(598-600)gCa>gAa	p.A200E	TRPC1_ENST00000273482.6_Missense_Mutation_p.A166E	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	200					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTGTGTTCTGCAAAAAACAAA	0.353																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(496-498)gCa>gAa		transient receptor potential cation channel, subfamily C, member 1							133.0	139.0	137.0					3																	142467269		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142467269C>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.599C>A	3.37:g.142467269C>A	ENSP00000419313:p.Ala200Glu					TRPC1_ENST00000476941.1_Missense_Mutation_p.A200E	p.A166E	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			3	888	+			200					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.497C>A	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733111	0.69189	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.75704	-0.96;0.3	5.59	5.59	0.84812	Transient receptor potential II (1);Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	N	0.02842	-0.48	0.80722	D	1	P;B	0.39404	0.672;0.007	P;B	0.45538	0.484;0.007	T	0.59710	-0.7403	10	0.09338	T	0.73	-29.6366	19.5934	0.95525	0.0:1.0:0.0:0.0	.	200;166	P48995;P48995-2	TRPC1_HUMAN;.	E	200;166	ENSP00000419313:A200E;ENSP00000273482:A166E	ENSP00000273482:A166E	A	+	2	0	TRPC1	143949959	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.632000	0.61311	2.641000	0.89580	0.460000	0.39030	GCA		0.353	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		6	637	1	0	0.217242	1	0.233187	6	637				
PPWD1	23398	broad.mit.edu	37	5	64868000	64868000	+	Missense_Mutation	SNP	G	G	A	rs150307628		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:64868000G>A	ENST00000261308.5	+	5	928	c.856G>A	c.(856-858)Gta>Ata	p.V286I	PPWD1_ENST00000538977.1_Missense_Mutation_p.V130I|PPWD1_ENST00000535264.1_Missense_Mutation_p.V256I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	286					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCCAACCAGCGTATGTTTTTC	0.348													A|||	1	0.000199681	0.0	0.0	5008	,	,		18017	0.0		0.001	False		,,,				2504	0.0					ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(856-858)Gta>Ata		peptidylprolyl isomerase domain and WD repeat containing 1		A	ILE/VAL	1,4405	798.9+/-415.5	0,1,2202	65.0	71.0	69.0		856	5.6	1.0	5	dbSNP_134	69	3,8597	814.0+/-407.0	0,3,4297	yes	missense	PPWD1	NM_015342.2	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	286/647	64868000	4,13002	2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64868000G>A	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.856G>A	5.37:g.64868000G>A	ENSP00000261308:p.Val286Ile					PPWD1_ENST00000538977.1_Missense_Mutation_p.V130I|PPWD1_ENST00000535264.1_Missense_Mutation_p.V256I	p.V286I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	5	928	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	286					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.856G>A	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	A	8.826	0.938643	0.18206	2.27E-4	3.49E-4	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.098404	0.64402	N	0.000003	T	0.44095	0.1277	L	0.38838	1.175	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28808	-1.0032	10	0.09338	T	0.73	.	11.6254	0.51142	0.9304:0.0:0.0695:0.0	.	256;286	F5H7P7;Q96BP3	.;PPWD1_HUMAN	I	286;256;130;205	ENSP00000261308:V286I;ENSP00000442371:V256I;ENSP00000444496:V130I;ENSP00000423234:V205I	ENSP00000261308:V286I	V	+	1	0	PPWD1	64903756	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.661000	0.61518	0.955000	0.37878	-0.361000	0.07541	GTA		0.348	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		156	413	0	0	0	1	0	156	413				
VSX2	338917	broad.mit.edu	37	14	74711870	74711870	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:74711870C>A	ENST00000261980.2	+	3	548	c.458C>A	c.(457-459)aCa>aAa	p.T153K		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	153					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CCCCTCAGGACAATCTTTACC	0.557																																						ENST00000261980.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(457-459)aCa>aAa		visual system homeobox 2							51.0	45.0	47.0					14																	74711870		2203	4300	6503	SO:0001583	missense	338917				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:74711870C>A	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.458C>A	14.37:g.74711870C>A	ENSP00000261980:p.Thr153Lys						p.T153K	NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00154)	3	548	+			153					A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	c.458C>A	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147188	0.94603	.	.	ENSG00000119614	ENST00000261980	D	0.97232	-4.3	4.82	4.82	0.62117	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99509	1.0955	10	0.87932	D	0	.	18.0779	0.89433	0.0:1.0:0.0:0.0	.	153	P58304	VSX2_HUMAN	K	153	ENSP00000261980:T153K	ENSP00000261980:T153K	T	+	2	0	VSX2	73781623	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.414000	0.80117	2.502000	0.84385	0.655000	0.94253	ACA		0.557	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		4	156	1	0	8.12818e-05	1	9.447e-05	4	156				
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACACTTGCCATTG	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825947A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825947A>G														0	3750	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		5	351	0	0	0	1	0	5	351				
ZSCAN32	54925	broad.mit.edu	37	16	3434792	3434792	+	Missense_Mutation	SNP	G	G	A	rs566315752		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:3434792G>A	ENST00000396852.4	-	6	1208	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R12W|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R301W|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R301W|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R12W|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R89W|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R89W	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	301					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										TCTGGGGTCCGCAGAAAACCC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18285	0.001		0.0	False		,,,				2504	0.0					ENST00000396852.4																			0											c.(901-903)Cgg>Tgg		zinc finger and SCAN domain containing 32							149.0	156.0	154.0					16																	3434792		2197	4300	6497	SO:0001583	missense	54925							g.chr16:3434792G>A	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.901C>T	16.37:g.3434792G>A	ENSP00000380061:p.Arg301Trp					ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R12W|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R301W|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R89W|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R12W|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R301W|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R89W	p.R301W							6	1208	-								B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.901C>T		.	.	.	.	.	.	.	.	.	.	G	14.15	2.450425	0.43531	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	3.38	-6.77	0.01727	.	1.517890	0.05004	N	0.469693	T	0.76040	0.3932	H	0.95712	3.71	0.09310	N	1	D;B;B	0.89917	1.0;0.005;0.005	D;B;B	0.97110	1.0;0.002;0.002	T	0.74512	-0.3641	10	0.87932	D	0	.	6.7168	0.23308	0.5388:0.2234:0.2378:0.0	.	89;89;301	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	W	89;301;301;12;89	ENSP00000302502:R89W;ENSP00000380061:R301W;ENSP00000380057:R301W;ENSP00000391787:R12W;ENSP00000407312:R89W	ENSP00000302502:R89W	R	-	1	2	ZNF434	3374793	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-3.830000	0.00355	-2.262000	0.00690	-0.345000	0.07892	CGG		0.502	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		7	960	0	0	0	1	0	7	960				
FBXW8	26259	broad.mit.edu	37	12	117465243	117465243	+	Missense_Mutation	SNP	C	C	A	rs80100705		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:117465243C>A	ENST00000309909.5	+	10	1668	c.1586C>A	c.(1585-1587)aCg>aAg	p.T529K	FBXW8_ENST00000455858.2_Missense_Mutation_p.T463K			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	529					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		AGCCTCATCACGGCCAACGTG	0.607																																						ENST00000455858.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(1387-1389)aCg>aAg		F-box and WD repeat domain containing 8							99.0	80.0	87.0					12																	117465243		2203	4300	6503	SO:0001583	missense	26259						protein binding	g.chr12:117465243C>A	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1586C>A	12.37:g.117465243C>A	ENSP00000310686:p.Thr529Lys					FBXW8_ENST00000309909.5_Missense_Mutation_p.T529K	p.T463K	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	10	1461	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		529					Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	c.1388C>A	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976191	0.74360	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.11063	2.81;2.83	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	T	0.03139	-1.1068	10	0.54805	T	0.06	-15.1406	18.4705	0.90773	0.0:1.0:0.0:0.0	.	529;463	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	K	529;463;463	ENSP00000310686:T529K;ENSP00000389144:T463K	ENSP00000310686:T529K	T	+	2	0	FBXW8	115949626	1.000000	0.71417	0.993000	0.49108	0.290000	0.27261	5.728000	0.68531	2.452000	0.82932	0.462000	0.41574	ACG		0.607	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		4	209	1	0	1	1	1	4	209				
UXS1	80146	broad.mit.edu	37	2	106710580	106710580	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:106710580G>A	ENST00000409501.3	-	15	1222	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	UXS1_ENST00000283148.7_Missense_Mutation_p.H394Y|UXS1_ENST00000540130.1_Missense_Mutation_p.H332Y|UXS1_ENST00000409032.1_Missense_Mutation_p.H221Y			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	389					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGGAAGTAGTGAATTGCTTTG	0.473																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(1180-1182)Cac>Tac		UDP-glucuronate decarboxylase 1							219.0	208.0	212.0					2																	106710580		1960	4143	6103	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106710580G>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1165C>T	2.37:g.106710580G>A	ENSP00000387019:p.His389Tyr					UXS1_ENST00000409501.3_Missense_Mutation_p.H389Y|UXS1_ENST00000540130.1_Missense_Mutation_p.H332Y|UXS1_ENST00000409032.1_Missense_Mutation_p.H221Y	p.H394Y	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			15	1277	-			389					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.1180C>T	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287260	0.59867	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.68	5.68	0.88126	.	0.046027	0.85682	D	0.000000	T	0.54647	0.1871	L	0.43923	1.385	0.80722	D	1	B;B;B	0.19817	0.039;0.023;0.023	B;B;B	0.14578	0.011;0.005;0.008	T	0.51748	-0.8666	10	0.72032	D	0.01	-10.5314	19.7704	0.96361	0.0:0.0:1.0:0.0	.	394;389;394	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	Y	394;332;389;221	ENSP00000283148:H394Y;ENSP00000438265:H332Y;ENSP00000387019:H389Y;ENSP00000387096:H221Y	ENSP00000283148:H394Y	H	-	1	0	UXS1	106077012	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	9.266000	0.95659	2.670000	0.90874	0.563000	0.77884	CAC		0.473	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		80	214	0	0	0	1	0	80	214				
ZNF3	7551	broad.mit.edu	37	7	99669508	99669508	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:99669508T>C	ENST00000424697.1	-	6	905	c.599A>G	c.(598-600)cAt>cGt	p.H200R	ZNF3_ENST00000299667.4_Missense_Mutation_p.H200R|ZNF3_ENST00000303915.6_Missense_Mutation_p.H200R|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	200					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			ATCACACTTATGGGGTCTGTC	0.433																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(598-600)cAt>cGt		zinc finger protein 3							86.0	93.0	91.0					7																	99669508		2146	4274	6420	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669508T>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.599A>G	7.37:g.99669508T>C	ENSP00000415358:p.His200Arg					ZNF3_ENST00000424697.1_Missense_Mutation_p.H200R|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.H200R	p.H200R			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1566	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	200					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.599A>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189385	0.57909	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.35421	1.31;1.31;1.31	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000041	T	0.51584	0.1683	L	0.60845	1.875	0.37016	D	0.895972	D;D	0.63880	0.993;0.982	P;P	0.62491	0.824;0.903	T	0.61783	-0.6992	10	0.87932	D	0	-15.5748	12.2643	0.54668	0.0:0.0:0.0:1.0	.	183;200	B3KRP4;P17036	.;ZNF3_HUMAN	R	200	ENSP00000415358:H200R;ENSP00000306372:H200R;ENSP00000299667:H200R	ENSP00000299667:H200R	H	-	2	0	ZNF3	99507444	0.001000	0.12720	1.000000	0.80357	0.998000	0.95712	0.261000	0.18442	2.075000	0.62263	0.533000	0.62120	CAT		0.433	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		151	379	0	0	0	1	0	151	379				
RPP30	10556	broad.mit.edu	37	10	92631768	92631768	+	Missense_Mutation	SNP	C	C	A	rs201210847	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:92631768C>A	ENST00000371703.3	+	1	296	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	RPP30_ENST00000413330.1_Missense_Mutation_p.L9M	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	9					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AGATTTGGACCTGCGAGCGGG	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		15159	0.002		0.0	False		,,,				2504	0.0					ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(25-27)Ctg>Atg		ribonuclease P/MRP 30kDa subunit							132.0	136.0	135.0					10																	92631768		2203	4300	6503	SO:0001583	missense	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92631768C>A	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.25C>A	10.37:g.92631768C>A	ENSP00000360768:p.Leu9Met					RPP30_ENST00000371703.3_Missense_Mutation_p.L9M	p.L9M	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			1	60	+			9					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.25C>A	CCDS7411.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.25	1.583213	0.28268	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882	T;T;T	0.57907	0.73;0.68;0.37	5.41	-2.62	0.06152	Polymerase/histidinol phosphatase-like (1);	0.386912	0.24126	N	0.041307	T	0.44456	0.1294	L	0.40543	1.245	0.09310	N	1	D;D;D	0.60575	0.974;0.966;0.988	P;P;P	0.54664	0.694;0.564;0.758	T	0.44907	-0.9297	10	0.66056	D	0.02	-0.4877	0.9317	0.01336	0.1935:0.3439:0.1932:0.2694	.	9;9;9	B4DJR3;P78346;E9PB02	.;RPP30_HUMAN;.	M	9	ENSP00000360768:L9M;ENSP00000389182:L9M;ENSP00000277882:L9M	ENSP00000277882:L9M	L	+	1	2	RPP30	92621748	0.000000	0.05858	0.002000	0.10522	0.100000	0.18952	-1.658000	0.01977	-1.114000	0.02977	-2.443000	0.00211	CTG		0.672	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		6	1062	1	0	1	1	1	6	1062				
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A	rs202223627		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517																																						ENST00000375050.4																			3	Substitution - Missense(3)	p.Y262F(3)	lung(3)	endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(784-786)tAt>tTt		pre-B-cell leukemia homeobox 2																																				SO:0001583	missense	5089						transcription factor binding	g.chr6:32155509T>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.785A>T	6.37:g.32155509T>A	ENSP00000364190:p.Tyr262Phe						p.Y262F	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			5	1055	-			262					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.785A>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841111	0.71488	.	.	ENSG00000204304	ENST00000375050	D	0.83673	-1.75	4.63	4.63	0.57726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.201957	0.34435	N	0.003969	T	0.61837	0.2379	N	0.10629	0.01	0.80722	D	1	P;P	0.42337	0.776;0.502	P;P	0.45232	0.474;0.458	T	0.71314	-0.4630	10	0.49607	T	0.09	-0.8351	12.0363	0.53427	0.0:0.0:0.0:1.0	.	262;262	Q7KZE5;P40425	.;PBX2_HUMAN	F	262	ENSP00000364190:Y262F	ENSP00000364190:Y262F	Y	-	2	0	PBX2	32263487	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.505000	0.81655	1.943000	0.56356	0.459000	0.35465	TAT		0.517	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			5	99	0	0	0	1	0	5	99				
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483																																						ENST00000369569.1																			2	Substitution - Missense(2)	p.R276W(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(826-828)Cgg>Tgg		adaptor-related protein complex 4, beta 1 subunit							74.0	81.0	78.0					1																	114442814		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442814G>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.826C>T	1.37:g.114442814G>A	ENSP00000358582:p.Arg276Trp					AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W	p.R276W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1106	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	276					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.826C>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272545	0.59649	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;2.55;1.69;1.69	5.09	3.04	0.35103	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.174999	0.49305	D	0.000144	T	0.47192	0.1432	M	0.87328	2.875	0.41890	D	0.990362	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.995;0.974;0.99	T	0.62186	-0.6907	10	0.87932	D	0	.	15.2638	0.73646	0.0:0.0:0.6536:0.3464	.	183;108;276;177	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	W	108;276;276;183;201;108	ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W	ENSP00000256658:R276W	R	-	1	2	AP4B1	114244337	0.992000	0.36948	0.837000	0.33122	0.912000	0.54170	1.685000	0.37659	1.225000	0.43566	0.561000	0.74099	CGG		0.483	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		5	335	0	0	0	1	0	5	335				
MYO1F	4542	broad.mit.edu	37	19	8595429	8595429	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:8595429C>T	ENST00000338257.8	-	20	2339	c.2072G>A	c.(2071-2073)cGa>cAa	p.R691Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	691					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATCGAACTTTCGCTCTCGCAC	0.647																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(2071-2073)cGa>cAa		myosin IF							82.0	87.0	86.0					19																	8595429		2007	4161	6168	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8595429C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2072G>A	19.37:g.8595429C>T	ENSP00000344871:p.Arg691Gln						p.R691Q	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			20	2339	-			691					Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.2072G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	36	5.683094	0.96774	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95205	-3.64	5.36	5.36	0.76844	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.96259	0.8780	M	0.81942	2.565	0.80722	D	1	D	0.63880	0.993	P	0.54174	0.744	D	0.95729	0.8773	10	0.41790	T	0.15	.	18.1619	0.89710	0.0:1.0:0.0:0.0	.	691	O00160	MYO1F_HUMAN	Q	736;691	ENSP00000344871:R691Q	ENSP00000304899:R736Q	R	-	2	0	MYO1F	8501429	1.000000	0.71417	0.952000	0.39060	0.951000	0.60555	7.748000	0.85085	2.532000	0.85374	0.555000	0.69702	CGA		0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			20	659	0	0	0	1	0	20	659				
MOV10L1	54456	broad.mit.edu	37	22	50555746	50555746	+	Missense_Mutation	SNP	G	G	A	rs201629078		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:50555746G>A	ENST00000262794.5	+	9	1503	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	MOV10L1_ENST00000540615.1_Missense_Mutation_p.A454T|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A474T|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A474T	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	474					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTTAACATCCGCAAAAACTAC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		19304	0.001		0.0	False		,,,				2504	0.0					ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(1420-1422)Gca>Aca		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							56.0	53.0	54.0					22																	50555746		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50555746G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1420G>A	22.37:g.50555746G>A	ENSP00000262794:p.Ala474Thr					MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A474T|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A474T|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A454T	p.A474T	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	9	1503	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	474					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.1420G>A	CCDS14084.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.004	0.555469	0.13436	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85411	-1.78;-1.78;-1.37;-1.98	5.76	-6.99	0.01605	.	0.581261	0.19774	N	0.106371	T	0.57272	0.2042	N	0.08118	0	0.20873	N	0.999839	B;B;B;B	0.10296	0.001;0.003;0.002;0.002	B;B;B;B	0.08055	0.001;0.003;0.001;0.001	T	0.55964	-0.8057	10	0.13853	T	0.58	-3.8624	3.9809	0.09495	0.5401:0.1755:0.2043:0.0801	.	235;454;474;474	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	T	474;474;474;454	ENSP00000438978:A474T;ENSP00000262794:A474T;ENSP00000379199:A474T;ENSP00000438542:A454T	ENSP00000262794:A474T	A	+	1	0	MOV10L1	48897873	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.354000	0.07681	-1.174000	0.02754	-2.178000	0.00318	GCA		0.428	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		5	503	0	0	0	1	0	5	503				
RHBDF1	64285	broad.mit.edu	37	16	110482	110482	+	Missense_Mutation	SNP	G	G	A	rs201706583		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:110482G>A	ENST00000262316.6	-	12	1755	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	538					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTTGTGGCCCGCAAGCTCTGG	0.642													G|||	0	0.0	0.0	0.0	5008	,	,		17632	0.0		0.0	False		,,,				2504	0.0					ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(1612-1614)gCg>gTg		rhomboid 5 homolog 1 (Drosophila)		G	VAL/ALA	0,4406		0,0,2203	73.0	71.0	71.0		1613	5.4	1.0	16		71	1,8599		0,1,4299	yes	missense	RHBDF1	NM_022450.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	538/856	110482	1,13005	2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:110482G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1613C>T	16.37:g.110482G>A	ENSP00000262316:p.Ala538Val						p.A538V	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			12	1755	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	538					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.1613C>T	CCDS32344.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	10.62	1.400754	0.25291	0.0	1.16E-4	ENSG00000007384	ENST00000262316	T	0.44482	0.92	5.38	5.38	0.77491	.	0.275564	0.36002	N	0.002854	T	0.23492	0.0568	N	0.08118	0	0.80722	D	1	P	0.35628	0.513	B	0.28385	0.089	T	0.08269	-1.0730	10	0.23302	T	0.38	-11.1593	18.1216	0.89573	0.0:0.0:1.0:0.0	.	538	Q96CC6	RHDF1_HUMAN	V	538	ENSP00000262316:A538V	ENSP00000262316:A538V	A	-	2	0	RHBDF1	50482	0.781000	0.28676	0.997000	0.53966	0.794000	0.44872	2.635000	0.46537	2.537000	0.85549	0.655000	0.94253	GCG		0.642	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		6	418	0	0	0	1	0	6	418				
LINGO1	84894	broad.mit.edu	37	15	77907604	77907604	+	Silent	SNP	G	G	A	rs373064406		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:77907604G>A	ENST00000355300.6	-	2	819	c.645C>T	c.(643-645)caC>caT	p.H215H	LINGO1_ENST00000561030.1_Silent_p.H209H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	215					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGATGAGGCCGTGCAGGTGGG	0.607																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(643-645)caC>caT		leucine rich repeat and Ig domain containing 1		G		0,4354		0,0,2177	108.0	117.0	114.0		645	3.6	1.0	15		114	1,8549		0,1,4274	no	coding-synonymous	LINGO1	NM_032808.5		0,1,6451	AA,AG,GG		0.0117,0.0,0.0077		215/621	77907604	1,12903	2177	4275	6452	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907604G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.645C>T	15.37:g.77907604G>A						LINGO1_ENST00000561030.1_Silent_p.H209H	p.H215H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	819	-			215					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.645C>T	CCDS45313.1																																																																																				0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		6	506	0	0	0	1	0	6	506				
LRRC36	55282	broad.mit.edu	37	16	67410658	67410658	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:67410658G>T	ENST00000329956.6	+	11	1708	c.1689G>T	c.(1687-1689)ttG>ttT	p.L563F	LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000563189.1_Missense_Mutation_p.L442F|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000541146.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	563										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTCTGTCTTTGGTAGTCCCGG	0.517																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1687-1689)ttG>ttT		leucine rich repeat containing 36							204.0	185.0	191.0					16																	67410658		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67410658G>T	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1689G>T	16.37:g.67410658G>T	ENSP00000329943:p.Leu563Phe					LRRC36_ENST00000563189.1_Missense_Mutation_p.L442F|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000541146.1_Intron	p.L563F	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	11	1708	+		Ovarian(137;0.192)	563					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1689G>T	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209239	0.79240	.	.	ENSG00000159708	ENST00000329956	T	0.09817	2.94	5.76	5.76	0.90799	.	0.058214	0.64402	D	0.000002	T	0.27419	0.0673	L	0.45581	1.43	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.87578	0.947;0.998	T	0.00118	-1.2034	10	0.59425	D	0.04	-4.4355	15.4671	0.75409	0.0:0.0:1.0:0.0	.	442;563	Q1X8D7-2;Q1X8D7	.;LRC36_HUMAN	F	563	ENSP00000329943:L563F	ENSP00000329943:L563F	L	+	3	2	LRRC36	65968159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.220000	0.42908	2.714000	0.92807	0.655000	0.94253	TTG		0.517	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		5	639	1	0	0.0215528	1	0.0236407	5	639				
FAT2	2196	broad.mit.edu	37	5	150885588	150885588	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150885588G>A	ENST00000261800.5	-	23	12600	c.12588C>T	c.(12586-12588)tcC>tcT	p.S4196S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4196					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)			GAGTCACTTCGGAGTGGGGGT	0.622																																						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.(12586-12588)tcC>tcT		FAT atypical cadherin 2							67.0	83.0	77.0					5																	150885588		2195	4294	6489	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885588G>A	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.12588C>T	5.37:g.150885588G>A							p.S4196S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12600	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4196					O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.12588C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	0.702	-0.790312	0.02884	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.02	-5.86	0.02304	.	.	.	.	.	.	.	.	.	.	.	0.29771	N	0.83475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4588	0.27283	0.3167:0.2335:0.4498:0.0	.	.	.	.	X	969	.	.	R	-	1	2	FAT2	150865781	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-2.499000	0.00968	-0.718000	0.04949	-0.459000	0.05422	CGA		0.622	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		161	400	0	0	0	1	0	161	400				
TCHH	7062	broad.mit.edu	37	1	152082320	152082320	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:152082320T>C	ENST00000368804.1	-	2	3372	c.3373A>G	c.(3373-3375)Aga>Gga	p.R1125G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1125	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgttcctctctcagcagctgc	0.612																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3373-3375)Aga>Gga		trichohyalin							93.0	94.0	94.0					1																	152082320		1979	4139	6118	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082320T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3373A>G	1.37:g.152082320T>C	ENSP00000357794:p.Arg1125Gly						p.R1125G	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3372	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1125			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3373A>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	5.521	0.281051	0.10458	.	.	ENSG00000159450	ENST00000368804	T	0.06849	3.25	2.38	1.02	0.19986	.	.	.	.	.	T	0.04407	0.0121	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	P	0.59171	0.853	T	0.40590	-0.9555	9	0.28530	T	0.3	.	5.1512	0.15011	0.0:0.0:0.3026:0.6974	.	1125	Q07283	TRHY_HUMAN	G	1125	ENSP00000357794:R1125G	ENSP00000357794:R1125G	R	-	1	2	TCHH	150348944	0.001000	0.12720	0.006000	0.13384	0.018000	0.09664	1.171000	0.31896	0.940000	0.37473	0.379000	0.24179	AGA		0.612	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	826	0	0	0	1	0	8	826				
PLEC	5339	broad.mit.edu	37	8	144991030	144991030	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:144991030C>A	ENST00000322810.4	-	32	13539	c.13370G>T	c.(13369-13371)gGc>gTc	p.G4457V	PLEC_ENST00000357649.2_Missense_Mutation_p.G4324V|PLEC_ENST00000527096.1_Missense_Mutation_p.G4343V|PLEC_ENST00000356346.3_Missense_Mutation_p.G4306V|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298V|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347V|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320V|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288V|PLEC_ENST00000354589.3_Missense_Mutation_p.G4320V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4457	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCGATGATGCCCCCGGTGCA	0.652																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13369-13371)gGc>gTc		plectin							40.0	47.0	44.0					8																	144991030		2127	4226	6353	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991030C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13370G>T	8.37:g.144991030C>A	ENSP00000323856:p.Gly4457Val					PLEC_ENST00000527096.1_Missense_Mutation_p.G4343V|PLEC_ENST00000354589.3_Missense_Mutation_p.G4320V|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288V|PLEC_ENST00000357649.2_Missense_Mutation_p.G4324V|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320V|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298V|PLEC_ENST00000356346.3_Missense_Mutation_p.G4306V|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347V	p.G4457V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13539	-			4457			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13370G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	7.990	0.753018	0.15778	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.38	5.38	0.77491	.	0.000000	0.64402	U	0.000006	D	0.94218	0.8144	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94935	0.8086	10	0.87932	D	0	.	18.9233	0.92534	0.0:1.0:0.0:0.0	.	4347;4306;4298;4457;4288;4320;4324;4320	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	4320;4324;4320;4288;4457;4298;4306;4347;4343	ENSP00000344848:G4320V;ENSP00000350277:G4324V;ENSP00000346602:G4320V;ENSP00000381756:G4288V;ENSP00000323856:G4457V;ENSP00000347044:G4298V;ENSP00000348702:G4306V;ENSP00000388180:G4347V;ENSP00000434583:G4343V	ENSP00000323856:G4457V	G	-	2	0	PLEC	145063018	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	7.543000	0.82106	2.795000	0.96236	0.643000	0.83706	GGC		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	372	1	0	1	1	1	5	372				
TCAIM	285343	broad.mit.edu	37	3	44399353	44399353	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:44399353G>A	ENST00000342649.4	+	3	577	c.150G>A	c.(148-150)caG>caA	p.Q50Q	TCAIM_ENST00000417237.1_Silent_p.Q50Q|TCAIM_ENST00000396078.3_Silent_p.Q50Q|TCAIM_ENST00000383746.3_Silent_p.Q50Q	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	50						mitochondrion (GO:0005739)											TCTTTGGACAGCACCCCGTAG	0.358																																						ENST00000342649.4																			0											c.(148-150)caG>caA		T cell activation inhibitor, mitochondrial							98.0	95.0	96.0					3																	44399353		2203	4300	6503	SO:0001819	synonymous_variant	285343							g.chr3:44399353G>A		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.150G>A	3.37:g.44399353G>A						TCAIM_ENST00000417237.1_Silent_p.Q50Q|TCAIM_ENST00000383746.3_Silent_p.Q50Q|TCAIM_ENST00000396078.3_Silent_p.Q50Q	p.Q50Q	NM_173826.3	NP_776187.2					3	577	+								A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.150G>A	CCDS2712.1																																																																																				0.358	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		6	459	0	0	0	1	0	6	459				
PKDREJ	10343	broad.mit.edu	37	22	46654414	46654414	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:46654414G>A	ENST00000253255.5	-	1	4805	c.4806C>T	c.(4804-4806)taC>taT	p.Y1602Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1602					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTCATAGCCGTAAGTCAGTC	0.398																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(4804-4806)taC>taT		polycystin (PKD) family receptor for egg jelly							97.0	91.0	93.0					22																	46654414		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654414G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4806C>T	22.37:g.46654414G>A							p.Y1602Y	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4805	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1602					B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.4806C>T	CCDS14073.1																																																																																				0.398	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		5	458	0	0	0	1	0	5	458				
PAFAH1B1	5048	broad.mit.edu	37	17	2583589	2583589	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:2583589G>A	ENST00000397195.5	+	10	1585	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000572915.2_Intron|PAFAH1B1_ENST00000451360.2_Silent_p.A173A	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CCCTCAATGCGCATGAACACT	0.453																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1132-1134)gcG>gcA		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)							251.0	236.0	241.0					17																	2583589		2203	4300	6503	SO:0001819	synonymous_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583589G>A	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1134G>A	17.37:g.2583589G>A						PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Silent_p.A173A	p.A378A	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			10	1585	+			378			Interaction with DCX.|Interaction with dynein and dynactin.			Silent	SNP	ENST00000397195.5	37	c.1134G>A	CCDS32528.1																																																																																				0.453	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		6	597	0	0	0	1	0	6	597				
LRRC8E	80131	broad.mit.edu	37	19	7963780	7963780	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:7963780C>T	ENST00000306708.6	+	3	474	c.373C>T	c.(373-375)Cac>Tac	p.H125Y	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	125					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGTGGTCATTCACACACTCAT	0.483																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(373-375)Cac>Tac		leucine rich repeat containing 8 family, member E							152.0	145.0	148.0					19																	7963780		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7963780C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.373C>T	19.37:g.7963780C>T	ENSP00000306524:p.His125Tyr					AC010336.1_ENST00000539278.1_3'UTR	p.H125Y	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	474	+			125					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.373C>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742643	0.69418	.	.	ENSG00000171017	ENST00000306708	T	0.32515	1.45	5.19	5.19	0.71726	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59862	-0.7374	10	0.87932	D	0	.	16.2508	0.82485	0.0:1.0:0.0:0.0	.	125	Q6NSJ5	LRC8E_HUMAN	Y	125	ENSP00000306524:H125Y	ENSP00000306524:H125Y	H	+	1	0	LRRC8E	7869780	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	7.643000	0.83403	2.709000	0.92574	0.655000	0.94253	CAC		0.483	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		6	916	0	0	0	1	0	6	916				
BCKDHA	593	broad.mit.edu	37	19	41916889	41916889	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:41916889G>A	ENST00000269980.2	+	3	718	c.350G>A	c.(349-351)cGc>cAc	p.R117H	BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	117					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						ACCATGGACCGCATCCTCTAT	0.587																																						ENST00000269980.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(349-351)cGc>cAc		branched chain keto acid dehydrogenase E1, alpha polypeptide							144.0	131.0	136.0					19																	41916889		2203	4300	6503	SO:0001583	missense	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41916889G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.350G>A	19.37:g.41916889G>A	ENSP00000269980:p.Arg117His					BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H|BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H	p.R117H	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			3	718	+			117					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.350G>A	CCDS12581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.349762|5.349762	0.95830|0.95830	.|.	.|.	ENSG00000248098|ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000541315|ENST00000540732;ENST00000269980;ENST00000457836;ENST00000378196	.|D;D;D	.|0.99194	.|-5.54;-5.54;-5.54	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Dehydrogenase, E1 component (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99093|0.99093	0.9688|0.9688	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;P;D;B	.|0.69078	.|0.997;0.49;0.986;0.129	.|D;B;P;B	.|0.64144	.|0.922;0.041;0.751;0.043	D|D	0.99620|0.99620	1.0983|1.0983	5|10	.|0.45353	.|T	.|0.12	-22.6744|-22.6744	17.984|17.984	0.89151|0.89151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95;117;117;151	.|B4DP47;Q59EI3;P12694;F5H5P2	.|.;.;ODBA_HUMAN;.	T|H	53|151;117;95;117	.|ENSP00000443246:R151H;ENSP00000269980:R117H;ENSP00000416000:R95H	.|ENSP00000269980:R117H	A|R	+|+	1|2	0|0	BCKDHA|BCKDHA;CTC-435M10.3	46608729|46608729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.252000|9.252000	0.95491|0.95491	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.587	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		7	916	0	0	0	1	0	7	916				
PIF1	80119	broad.mit.edu	37	15	65113473	65113473	+	Missense_Mutation	SNP	G	G	A	rs200881596		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:65113473G>A	ENST00000268043.4	-	6	1073	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	PIF1_ENST00000333425.6_Missense_Mutation_p.R327W|PIF1_ENST00000559239.1_Missense_Mutation_p.R327W					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						TTCTGCTGCCGGACAGCTCTG	0.607																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(979-981)Cgg>Tgg		PIF1 5'-to-3' DNA helicase		G	TRP/ARG	0,4404		0,0,2202	78.0	69.0	72.0		979	4.8	1.0	15		72	2,8596	2.2+/-6.3	0,2,4297	yes	missense	PIF1	NM_025049.2	101	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	327/642	65113473	2,13000	2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65113473G>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.979C>T	15.37:g.65113473G>A	ENSP00000268043:p.Arg327Trp					PIF1_ENST00000559239.1_Missense_Mutation_p.R327W|PIF1_ENST00000333425.6_Missense_Mutation_p.R327W	p.R327W			Q9H611	PIF1_HUMAN			6	1073	-			327			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.979C>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369151	0.61624	0.0	2.33E-4	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.77750	-1.12;-1.12	5.79	4.8	0.61643	.	0.047541	0.85682	D	0.000000	D	0.92509	0.7621	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.94808	0.7976	10	0.87932	D	0	-37.8558	15.1667	0.72833	0.0:0.0:0.8494:0.1506	.	327	Q9H611	PIF1_HUMAN	W	327	ENSP00000268043:R327W;ENSP00000328174:R327W	ENSP00000268043:R327W	R	-	1	2	PIF1	62900526	1.000000	0.71417	0.994000	0.49952	0.625000	0.37756	2.924000	0.48876	2.735000	0.93741	0.655000	0.94253	CGG		0.607	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		5	410	0	0	0	1	0	5	410				
CLCN6	1185	broad.mit.edu	37	1	11887250	11887250	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:11887250T>C	ENST00000346436.6	+	10	864	c.812T>C	c.(811-813)tTc>tCc	p.F271S	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.F249S|CLCN6_ENST00000376496.3_Missense_Mutation_p.F271S|CLCN6_ENST00000312413.6_Missense_Mutation_p.F271S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	271					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCGTCCTTCTGGAACCAA	0.547																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(811-813)tTc>tCc		chloride channel, voltage-sensitive 6							74.0	75.0	75.0					1																	11887250		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11887250T>C	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.812T>C	1.37:g.11887250T>C	ENSP00000234488:p.Phe271Ser					CLCN6_ENST00000376487.3_Missense_Mutation_p.F249S|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.F271S|CLCN6_ENST00000312413.6_Missense_Mutation_p.F271S	p.F271S	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	10	864	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	271					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.812T>C	CCDS138.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.906295	0.92107	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376492	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.41	5.41	0.78517	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96685	0.8918	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97305	0.9933	9	0.87932	D	0	-34.2285	14.6159	0.68547	0.0:0.0:0.0:1.0	.	249;271;271	F8W9R3;P51797-3;P51797	.;.;CLCN6_HUMAN	S	271;271;249;271;271	ENSP00000308367:F271S;ENSP00000234488:F271S;ENSP00000365670:F249S;ENSP00000365679:F271S	ENSP00000308367:F271S	F	+	2	0	CLCN6	11809837	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.676000	0.84012	2.054000	0.61138	0.459000	0.35465	TTC		0.547	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		4	161	0	0	0	1	0	4	161				
FAM71F2	346653	broad.mit.edu	37	7	128315711	128315711	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:128315711C>A	ENST00000480462.1	+	2	269	c.163C>A	c.(163-165)Cct>Act	p.P55T	FAM71F2_ENST00000477515.1_Missense_Mutation_p.P55T|FAM71F2_ENST00000460349.1_Intron|FAM71F2_ENST00000378704.3_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	55										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GACCCATGTACCTGAGGCTGA	0.582																																						ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(163-165)Cct>Act		family with sequence similarity 71, member F2							50.0	53.0	52.0					7																	128315711		2001	4171	6172	SO:0001583	missense	346653							g.chr7:128315711C>A	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.163C>A	7.37:g.128315711C>A	ENSP00000420140:p.Pro55Thr					FAM71F2_ENST00000460349.1_Intron|FAM71F2_ENST00000477515.1_Missense_Mutation_p.P55T|FAM71F2_ENST00000378704.3_Intron	p.P55T			Q6NXP2	F71F2_HUMAN			2	269	+			55					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.163C>A	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	C	1.891	-0.455370	0.04540	.	.	ENSG00000205085	ENST00000480462;ENST00000477515	T;T	0.30448	3.36;1.53	4.93	1.46	0.22682	.	.	.	.	.	T	0.18045	0.0433	N	0.22421	0.69	0.18873	N	0.999989	B	0.30068	0.267	B	0.27608	0.081	T	0.18999	-1.0319	9	0.54805	T	0.06	-10.0036	5.3602	0.16083	0.0:0.5332:0.0:0.4668	.	55	Q6NXP2	F71F2_HUMAN	T	55	ENSP00000420140:P55T;ENSP00000419649:P55T	ENSP00000419649:P55T	P	+	1	0	FAM71F2	128102947	0.000000	0.05858	0.407000	0.26434	0.010000	0.07245	-0.219000	0.09228	0.533000	0.28675	0.557000	0.71058	CCT		0.582	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			4	193	1	0	0.150653	1	0.163713	4	193				
SRFBP1	153443	broad.mit.edu	37	5	121362757	121362757	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:121362757G>A	ENST00000339397.4	+	8	1298	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GCAAGCAGAAGGCGAAAAGAA	0.368																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(1225-1227)aGg>aAg		serum response factor binding protein 1							47.0	45.0	46.0					5																	121362757		1835	4088	5923	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121362757G>A	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.1226G>A	5.37:g.121362757G>A	ENSP00000341324:p.Arg409Lys					SRFBP1_ENST00000504881.1_Intron	p.R409K	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	8	1298	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	409						Missense_Mutation	SNP	ENST00000339397.4	37	c.1226G>A	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569176	0.28003	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.76	-0.243	0.13035	Bud-site selection protein, BUD22 (1);	0.337294	0.36303	N	0.002678	T	0.30479	0.0766	N	0.16368	0.405	0.34634	D	0.719936	B	0.17038	0.02	B	0.17433	0.018	T	0.29366	-1.0014	9	0.13853	T	0.58	-6.0429	11.318	0.49403	0.5482:0.0:0.4518:0.0	.	409	Q8NEF9	SRFB1_HUMAN	K	409	.	ENSP00000341324:R409K	R	+	2	0	SRFBP1	121390656	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	1.433000	0.34947	0.003000	0.14656	0.655000	0.94253	AGG		0.368	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		129	226	0	0	0	1	0	129	226				
PCDHB2	56133	broad.mit.edu	37	5	140476767	140476767	+	Missense_Mutation	SNP	C	C	G	rs461653	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140476767C>G	ENST00000194155.4	+	1	2541	c.2393C>G	c.(2392-2394)aCt>aGt	p.T798S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	798					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAATTCACTTAAGTGTTA	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		17655	0.001		0.0	False		,,,				2504	0.001					ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2392-2394)aCt>aGt									151.0	155.0	154.0					5																	140476767		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476767C>G	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2393C>G	5.37:g.140476767C>G	ENSP00000194155:p.Thr798Ser						p.T798S	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2541	+			798					Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.2393C>G	CCDS4244.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.003	-2.575107	0.00131	.	.	ENSG00000112852	ENST00000194155	T	0.47177	0.85	4.34	-1.02	0.10135	.	.	.	.	.	T	0.11495	0.0280	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27226	-1.0080	9	0.02654	T	1	.	2.1345	0.03758	0.4333:0.1242:0.3164:0.126	rs461653	798	Q9Y5E7	PCDB2_HUMAN	S	798	ENSP00000194155:T798S	ENSP00000194155:T798S	T	+	2	0	PCDHB2	140456951	0.005000	0.15991	0.320000	0.25306	0.037000	0.13140	-1.127000	0.03251	-0.315000	0.08703	-0.125000	0.14975	ACT		0.423	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		6	846	0	0	0	1	0	6	846				
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:71347033C>T	ENST00000304887.5	+	3	762	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_ENST00000413702.1_Missense_Mutation_p.A191V|MUC7_ENST00000456088.1_Missense_Mutation_p.A191V	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	191	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.A191V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587																																						ENST00000413702.1																			1	Substitution - Missense(1)	p.A191V(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(571-573)gCc>gTc		mucin 7, secreted							359.0	290.0	314.0					4																	71347033		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347033C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.572C>T	4.37:g.71347033C>T	ENSP00000302021:p.Ala191Val					MUC7_ENST00000456088.1_Missense_Mutation_p.A191V|MUC7_ENST00000304887.5_Missense_Mutation_p.A191V	p.A191V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	860	+			191			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.572C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097885	0.20552	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.59772	0.24;0.24;0.24	1.73	1.73	0.24493	.	.	.	.	.	T	0.37919	0.1021	L	0.27053	0.805	0.09310	N	1	B	0.32573	0.376	B	0.32583	0.148	T	0.17228	-1.0376	8	.	.	.	.	4.1514	0.10240	0.0:0.792:0.0:0.208	.	191	Q8TAX7	MUC7_HUMAN	V	191	ENSP00000407422:A191V;ENSP00000400585:A191V;ENSP00000302021:A191V	.	A	+	2	0	MUC7	71381622	0.000000	0.05858	0.058000	0.19502	0.018000	0.09664	0.323000	0.19593	1.273000	0.44346	0.655000	0.94253	GCC		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		7	572	0	0	0	1	0	7	572				
ALDH1L2	160428	broad.mit.edu	37	12	105433542	105433542	+	Missense_Mutation	SNP	C	C	T	rs143830632		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:105433542C>T	ENST00000258494.9	-	17	2134	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	665	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)	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)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCAAGTTTGCGGATGTCAGG	0.443																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(1993-1995)cGc>cAc		aldehyde dehydrogenase 1 family, member L2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	183.0	166.0	172.0		1994	5.7	1.0	12	dbSNP_134	172	0,8600		0,0,4300	yes	missense	ALDH1L2	NM_001034173.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	665/924	105433542	1,13005	2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105433542C>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1994G>A	12.37:g.105433542C>T	ENSP00000258494:p.Arg665His					C12orf45_ENST00000548583.1_Intron	p.R665H	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			17	2134	-			665			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.1994G>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420098	0.96111	2.27E-4	0.0	ENSG00000136010	ENST00000258494	T	0.17054	2.3	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.02942	-1.1091	10	0.66056	D	0.02	.	19.8383	0.96670	0.0:1.0:0.0:0.0	.	665	Q3SY69	AL1L2_HUMAN	H	665	ENSP00000258494:R665H	ENSP00000258494:R665H	R	-	2	0	ALDH1L2	103957672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.738000	0.84966	2.683000	0.91414	0.650000	0.86243	CGC		0.443	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		5	441	0	0	0	1	0	5	441				
KAT2A	2648	broad.mit.edu	37	17	40266956	40266956	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:40266956C>T	ENST00000225916.5	-	13	2026	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	658					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTAGGGGATGCGGGGATTCAG	0.552																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1972-1974)cGc>cAc		K(lysine) acetyltransferase 2A							309.0	269.0	282.0					17																	40266956		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40266956C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1973G>A	17.37:g.40266956C>T	ENSP00000225916:p.Arg658His						p.R658H	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			13	2026	-			658					Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.1973G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183065	0.78677	.	.	ENSG00000108773	ENST00000225916	T	0.05513	3.43	5.09	5.09	0.68999	Acyl-CoA N-acyltransferase (2);	0.142348	0.52532	D	0.000063	T	0.15652	0.0377	M	0.87097	2.86	0.80722	D	1	B	0.18013	0.025	B	0.08055	0.003	T	0.03268	-1.1054	10	0.62326	D	0.03	-19.725	18.4939	0.90856	0.0:1.0:0.0:0.0	.	658	Q92830	KAT2A_HUMAN	H	658	ENSP00000225916:R658H	ENSP00000225916:R658H	R	-	2	0	KAT2A	37520482	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	7.797000	0.85911	2.366000	0.80165	0.561000	0.74099	CGC		0.552	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		8	1549	0	0	0	1	0	8	1549				
AGL	178	broad.mit.edu	37	1	100336383	100336383	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:100336383G>A	ENST00000294724.4	+	7	1394	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	AGL_ENST00000370163.3_Missense_Mutation_p.V306I|AGL_ENST00000370165.3_Missense_Mutation_p.V306I|AGL_ENST00000361915.3_Missense_Mutation_p.V306I|AGL_ENST00000361302.3_Missense_Mutation_p.V290I|AGL_ENST00000361522.4_Missense_Mutation_p.V289I|AGL_ENST00000370161.2_Missense_Mutation_p.V290I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	306					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCAAGTAGATGTCAACAAAGC	0.303																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(916-918)Gtc>Atc		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							34.0	39.0	37.0					1																	100336383		2176	4279	6455	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100336383G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.916G>A	1.37:g.100336383G>A	ENSP00000294724:p.Val306Ile					AGL_ENST00000370163.3_Missense_Mutation_p.V306I|AGL_ENST00000361915.3_Missense_Mutation_p.V306I|AGL_ENST00000361302.3_Missense_Mutation_p.V290I|AGL_ENST00000361522.4_Missense_Mutation_p.V289I|AGL_ENST00000370161.2_Missense_Mutation_p.V290I|AGL_ENST00000370165.3_Missense_Mutation_p.V306I	p.V306I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	7	1394	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	306					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.916G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	g	5.406	0.260007	0.10239	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.34	1.41	0.22369	Glycoside hydrolase, superfamily (1);	0.273612	0.36101	N	0.002797	T	0.60843	0.2300	L	0.39898	1.24	0.09310	N	0.999996	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.14578	0.011;0.011;0.007	T	0.53760	-0.8393	10	0.30078	T	0.28	.	9.6993	0.40175	0.2549:0.0:0.7451:0.0	.	289;290;306	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	I	306;306;306;306;290;290;289	ENSP00000355106:V306I;ENSP00000359184:V306I;ENSP00000359182:V306I;ENSP00000294724:V306I;ENSP00000354971:V290I;ENSP00000359180:V290I;ENSP00000354635:V289I	ENSP00000294724:V306I	V	+	1	0	AGL	100108971	0.990000	0.36364	0.001000	0.08648	0.123000	0.20343	2.092000	0.41700	0.073000	0.16731	-0.796000	0.03273	GTC		0.303	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		70	137	0	0	0	1	0	70	137				
KCNA6	3742	broad.mit.edu	37	12	4920011	4920011	+	Silent	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:4920011G>A	ENST00000280684.3	+	1	1670	c.804G>A	c.(802-804)acG>acA	p.T268T	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.T268T			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	268					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TGGTGGAGACGCTGTGCATTG	0.562										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(802-804)acG>acA		potassium voltage-gated channel, shaker-related subfamily, member 6							89.0	88.0	89.0					12																	4920011		2203	4300	6503	SO:0001819	synonymous_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920011G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.804G>A	12.37:g.4920011G>A		HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Silent_p.T268T	p.T268T	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1670	+			268						Silent	SNP	ENST00000280684.3	37	c.804G>A	CCDS8534.1																																																																																				0.562	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		143	322	0	0	0	1	0	143	322				
NCKAP5L	57701	broad.mit.edu	37	12	50191075	50191075	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:50191075T>A	ENST00000335999.6	-	8	769	c.568A>T	c.(568-570)Att>Ttt	p.I190F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	186	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACCTCCAGAATCTGGGCCTTC	0.682																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(568-570)Att>Ttt		NCK-associated protein 5-like							24.0	28.0	27.0					12																	50191075		1906	4117	6023	SO:0001583	missense	57701							g.chr12:50191075T>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.568A>T	12.37:g.50191075T>A	ENSP00000337998:p.Ile190Phe						p.I190F	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	769	-			186			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.568A>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465970	0.84425	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.63913	-0.07	4.3	4.3	0.51218	.	.	.	.	.	T	0.71204	0.3312	L	0.42245	1.32	0.47153	D	0.999339	D	0.76494	0.999	D	0.87578	0.998	T	0.73372	-0.4003	9	0.59425	D	0.04	-4.9163	12.7587	0.57350	0.0:0.0:0.0:1.0	.	186	E2QRB5	.	F	190;186	ENSP00000337998:I190F	ENSP00000337998:I190F	I	-	1	0	NCKAP5L	48477342	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.480000	0.53172	1.717000	0.51406	0.379000	0.24179	ATT		0.682	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		56	121	0	0	0	1	0	56	121				
TBX18	9096	broad.mit.edu	37	6	85446425	85446425	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:85446425T>A	ENST00000369663.5	-	8	2139	c.1802A>T	c.(1801-1803)cAa>cTa	p.Q601L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	601					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGCAGATACTTGAGATGATGA	0.408																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1801-1803)cAa>cTa		T-box 18							60.0	61.0	61.0					6																	85446425		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446425T>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1802A>T	6.37:g.85446425T>A	ENSP00000358677:p.Gln601Leu					TBX18_ENST00000606784.1_Intron	p.Q601L	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	2139	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	601					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1802A>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.268502	0.40095	.	.	ENSG00000112837	ENST00000369663	D	0.93366	-3.21	5.53	5.53	0.82687	.	0.227067	0.49916	D	0.000126	D	0.93370	0.7886	L	0.36672	1.1	0.80722	D	1	D	0.54601	0.967	D	0.65140	0.932	D	0.94755	0.7931	10	0.87932	D	0	.	15.9435	0.79776	0.0:0.0:0.0:1.0	.	601	O95935	TBX18_HUMAN	L	601	ENSP00000358677:Q601L	ENSP00000358677:Q601L	Q	-	2	0	TBX18	85503144	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	7.281000	0.78621	2.222000	0.72286	0.477000	0.44152	CAA		0.408	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		7	240	0	0	0	1	0	7	240				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			5	565	0	0	0	1	0	5	565				
CTNND2	1501	broad.mit.edu	37	5	10973809	10973809	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:10973809A>C	ENST00000304623.8	-	22	3623	c.3434T>G	c.(3433-3435)gTc>gGc	p.V1145G	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.V808G|CTNND2_ENST00000359640.2_Missense_Mutation_p.V1087G|CTNND2_ENST00000511377.1_Missense_Mutation_p.V1054G|CTNND2_ENST00000458100.2_Missense_Mutation_p.V712G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1145					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCTGTGGGACTGGCTGTGC	0.522																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(3433-3435)gTc>gGc		catenin (cadherin-associated protein), delta 2							85.0	77.0	79.0					5																	10973809		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10973809A>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3434T>G	5.37:g.10973809A>C	ENSP00000307134:p.Val1145Gly					CTNND2_ENST00000458100.2_Missense_Mutation_p.V712G|CTNND2_ENST00000503622.1_Missense_Mutation_p.V808G|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.V1087G|CTNND2_ENST00000511377.1_Missense_Mutation_p.V1054G	p.V1145G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			22	3623	-			1145					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.3434T>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	6.986	0.551943	0.13374	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.78595	-1.08;-1.15;-1.07;-1.19;-1.19	5.93	2.29	0.28610	.	0.757929	0.12479	N	0.465306	T	0.57021	0.2025	N	0.08118	0	0.80722	D	1	B;B;B	0.26318	0.002;0.035;0.146	B;B;B	0.24974	0.004;0.012;0.057	T	0.35943	-0.9768	10	0.26408	T	0.33	-15.0539	9.4259	0.38578	0.8:0.0:0.2:0.0	.	808;737;1145	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	G	1145;1087;1054;240;712;808	ENSP00000307134:V1145G;ENSP00000352661:V1087G;ENSP00000426510:V1054G;ENSP00000391155:V712G;ENSP00000426887:V808G	ENSP00000307134:V1145G	V	-	2	0	CTNND2	11026809	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.062000	0.57492	0.162000	0.19483	0.533000	0.62120	GTC		0.522	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		84	208	0	0	0	1	0	84	208				
NR2C1	7181	broad.mit.edu	37	12	95451597	95451597	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:95451597G>A	ENST00000333003.5	-	6	932	c.602C>T	c.(601-603)gCc>gTc	p.A201V	NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	201					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTTGAAGCGGCACAGTTGGA	0.343																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(601-603)gCc>gTc		nuclear receptor subfamily 2, group C, member 1							121.0	119.0	120.0					12																	95451597		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95451597G>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.602C>T	12.37:g.95451597G>A	ENSP00000333275:p.Ala201Val					NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V	p.A201V	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			6	932	-			201					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.602C>T	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934588	0.92458	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.92149	-2.98;-2.7;-2.7	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;1.0;0.997	D;D;D;D	0.80764	0.989;0.994;0.989;0.985	D	0.95074	0.8207	10	0.44086	T	0.13	.	19.6188	0.95647	0.0:0.0:1.0:0.0	.	201;201;201;201	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	V	201	ENSP00000333275:A201V;ENSP00000376813:A201V;ENSP00000328843:A201V	ENSP00000328843:A201V	A	-	2	0	NR2C1	93975728	1.000000	0.71417	0.966000	0.40874	0.889000	0.51656	9.385000	0.97223	2.646000	0.89796	0.655000	0.94253	GCC		0.343	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		6	749	0	0	0	1	0	6	749				
FAT2	2196	broad.mit.edu	37	5	150923873	150923873	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:150923873A>G	ENST00000261800.5	-	9	6827	c.6815T>C	c.(6814-6816)tTt>tCt	p.F2272S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2272	Cadherin 19. {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)			CAATTGGGAAAAAGTGGGAGG	0.517																																						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.(6814-6816)tTt>tCt		FAT atypical cadherin 2							100.0	99.0	100.0					5																	150923873		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.chr5:150923873A>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.6815T>C	5.37:g.150923873A>G	ENSP00000261800:p.Phe2272Ser						p.F2272S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6827	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2272			Cadherin 19.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6815T>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513047	0.64522	.	.	ENSG00000086570	ENST00000261800	T	0.32023	1.47	5.68	5.68	0.88126	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.69860	0.3158	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.81348	-0.0973	10	0.87932	D	0	.	15.938	0.79729	1.0:0.0:0.0:0.0	.	2272	Q9NYQ8	FAT2_HUMAN	S	2272	ENSP00000261800:F2272S	ENSP00000261800:F2272S	F	-	2	0	FAT2	150904066	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.252000	0.95491	2.167000	0.68274	0.459000	0.35465	TTT		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		9	428	0	0	0	1	0	9	428				
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P|TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736																																						ENST00000264771.4																			1	Substitution - Missense(1)	p.H484P(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(1450-1452)cAc>cCc		transmembrane protein 175							7.0	10.0	9.0					4																	952220		2108	4121	6229	SO:0001583	missense	84286					integral to membrane		g.chr4:952220A>C	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1451A>C	4.37:g.952220A>C	ENSP00000264771:p.His484Pro					TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P|TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P	p.H484P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1636	+			484					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.1451A>C	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	A	6.831	0.522566	0.13066	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.44083	1.52;1.51;0.93	3.52	-7.04	0.01578	.	3.825800	0.01085	U	0.005077	T	0.17109	0.0411	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24048	-1.0171	10	0.34782	T	0.22	-15.717	8.4105	0.32640	0.4546:0.1236:0.4219:0.0	.	402;484	D3DVN5;Q9BSA9	.;TM175_HUMAN	P	484;368;402	ENSP00000264771:H484P;ENSP00000427039:H368P;ENSP00000423669:H402P	ENSP00000264771:H484P	H	+	2	0	TMEM175	942220	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.007000	0.03667	-2.236000	0.00713	-0.589000	0.04120	CAC		0.736	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		23	60	0	0	0	1	0	23	60				
EXOC7	23265	broad.mit.edu	37	17	74097870	74097870	+	Silent	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:74097870C>T	ENST00000335146.7	-	3	254	c.201G>A	c.(199-201)acG>acA	p.T67T	EXOC7_ENST00000589210.1_Silent_p.T67T|EXOC7_ENST00000607838.1_Silent_p.T67T|EXOC7_ENST00000406660.3_Silent_p.T67T|EXOC7_ENST00000332065.5_Silent_p.T67T|EXOC7_ENST00000411744.2_Silent_p.T67T|EXOC7_ENST00000467929.2_Silent_p.T26T|EXOC7_ENST00000405575.4_Silent_p.T67T			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	67					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGATTCTCCGTCTGCTTGT	0.522																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(199-201)acG>acA		exocyst complex component 7							95.0	86.0	89.0					17																	74097870		2203	4300	6503	SO:0001819	synonymous_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74097870C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.201G>A	17.37:g.74097870C>T						EXOC7_ENST00000589210.1_Silent_p.T67T|EXOC7_ENST00000406660.3_Silent_p.T67T|EXOC7_ENST00000405575.4_Silent_p.T67T|EXOC7_ENST00000467929.2_Silent_p.T26T|EXOC7_ENST00000335146.7_Silent_p.T67T|EXOC7_ENST00000332065.5_Silent_p.T67T|EXOC7_ENST00000411744.2_Silent_p.T67T	p.T67T	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	295	-			67					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Silent	SNP	ENST00000335146.7	37	c.201G>A	CCDS45782.1																																																																																				0.522	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		105	123	0	0	0	1	0	105	123				
SIX2	10736	broad.mit.edu	37	2	45233480	45233480	+	Silent	SNP	C	C	T	rs146943650	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:45233480C>T	ENST00000303077.6	-	2	1024	c.705G>A	c.(703-705)ccG>ccA	p.P235P		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	235					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P235P(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGGGGGCGGCGGGCTGAGGA	0.706													C|||	5	0.000998403	0.0038	0.0	5008	,	,		16657	0.0		0.0	False		,,,				2504	0.0					ENST00000303077.6																			1	Substitution - coding silent(1)	p.P235P(1)	pancreas(1)	endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(703-705)ccG>ccA		SIX homeobox 2		C		11,4395	17.9+/-39.9	0,11,2192	57.0	63.0	61.0		705	3.0	1.0	2	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SIX2	NM_016932.4		0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923		235/292	45233480	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233480C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.705G>A	2.37:g.45233480C>T							p.P235P	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			2	1024	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	235					Q9BXH7	Silent	SNP	ENST00000303077.6	37	c.705G>A	CCDS1822.1																																																																																				0.706	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			6	415	0	0	0	1	0	6	415				
PCDHA3	56145	broad.mit.edu	37	5	140181615	140181615	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:140181615C>T	ENST00000522353.2	+	1	833	c.833C>T	c.(832-834)gCg>gTg	p.A278V	PCDHA3_ENST00000532566.2_Missense_Mutation_p.A278V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGATATCGCGTATTCTTTC	0.393																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(832-834)gCg>gTg									92.0	89.0	90.0					5																	140181615		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181615C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.833C>T	5.37:g.140181615C>T	ENSP00000429808:p.Ala278Val					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A278V|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.A278V	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	833	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.833C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.180528	0.00026	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50548	0.74;0.74	4.79	-3.17	0.05202	Cadherin (4);Cadherin-like (1);	1.311480	0.05755	N	0.603847	T	0.14743	0.0356	N	0.01417	-0.88	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.24476	-1.0159	10	0.02654	T	1	.	5.9056	0.18998	0.2045:0.372:0.0:0.4235	.	278;278	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	278	ENSP00000429808:A278V;ENSP00000434086:A278V	ENSP00000429808:A278V	A	+	2	0	PCDHA3	140161799	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-4.160000	0.00283	-1.068000	0.03156	-1.595000	0.00837	GCG		0.393	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	492	0	0	0	1	0	5	492				
MAGEL2	54551	broad.mit.edu	37	15	23890209	23890209	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:23890209G>A	ENST00000532292.1	-	1	966	c.872C>T	c.(871-873)gCc>gTc	p.A291V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	174					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTCCTCTTGGGCTTCCAGATG	0.632																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(871-873)gCc>gTc		MAGE-like 2							46.0	53.0	51.0					15																	23890209		2177	4288	6465	SO:0001583	missense	54551							g.chr15:23890209G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.872C>T	15.37:g.23890209G>A	ENSP00000433433:p.Ala291Val						p.A291V	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	966	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.872C>T		.	.	.	.	.	.	.	.	.	.	G	7.175	0.588375	0.13812	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.22	3.3	0.37823	.	.	.	.	.	T	0.18593	0.0446	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19877	-1.0292	5	.	.	.	.	7.8726	0.29576	0.1098:0.0:0.8901:0.0	.	.	.	.	S	323	.	.	P	-	1	0	MAGEL2	21441302	0.001000	0.12720	0.002000	0.10522	0.299000	0.27559	0.810000	0.27183	1.364000	0.46038	0.655000	0.94253	CCC		0.632	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		16	225	0	0	0	1	0	16	225				
ZNF812	729648	broad.mit.edu	37	19	9801340	9801340	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:9801340G>A	ENST00000457674.2	-	5	1357	c.839C>T	c.(838-840)aCg>aTg	p.T280M	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						CCCACATTCCGTATATTTGTG	0.378																																						ENST00000457674.2																			0				ovary(1)	1						c.(838-840)aCg>aTg		zinc finger protein 812																																				SO:0001583	missense	729648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9801340G>A		CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.839C>T	19.37:g.9801340G>A	ENSP00000395629:p.Thr280Met					ZNF812_ENST00000536819.1_5'UTR	p.T280M	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN			5	1357	-			280						Missense_Mutation	SNP	ENST00000457674.2	37	c.839C>T	CCDS54215.1	.	.	.	.	.	.	.	.	.	.	g	8.187	0.795210	0.16327	.	.	ENSG00000224689	ENST00000457674	T	0.07800	3.16	1.42	-1.1	0.09872	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14570	0.0352	M	0.63428	1.95	0.09310	N	1	D	0.65815	0.995	P	0.55545	0.778	T	0.12243	-1.0555	9	0.66056	D	0.02	.	3.7459	0.08548	0.0:0.1839:0.495:0.321	.	280	P0C7V5	ZN812_HUMAN	M	280	ENSP00000395629:T280M	ENSP00000395629:T280M	T	-	2	0	ZNF812	9662340	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-5.479000	0.00119	-0.418000	0.07450	0.195000	0.17529	ACG		0.378	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396726.1			5	593	0	0	0	1	0	5	593				
PITPNM2	57605	broad.mit.edu	37	12	123474427	123474427	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:123474427T>G	ENST00000542749.1	-	16	2701	c.2638A>C	c.(2638-2640)Agc>Cgc	p.S880R	PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R|PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S880R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	880	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGGTGGGGCTGGGGGCGGGC	0.687																																						ENST00000320201.4																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2638-2640)Agc>Cgc		phosphatidylinositol transfer protein, membrane-associated 2							2.0	3.0	2.0					12																	123474427		1321	2883	4204	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123474427T>G	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2638A>C	12.37:g.123474427T>G	ENSP00000437611:p.Ser880Arg					PITPNM2_ENST00000542749.1_Missense_Mutation_p.S880R|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R|PITPNM2_ENST00000280562.5_Intron	p.S880R	NM_020845.2	NP_065896.1	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	17	2776	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		880			DDHD.		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.2638A>C	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	t	8.105	0.777545	0.16120	.	.	ENSG00000090975	ENST00000320201;ENST00000392428;ENST00000542749	T;T;T	0.44083	1.25;0.93;1.25	5.25	-10.5	0.00291	DDHD (2);	1.325000	0.05462	U	0.551478	T	0.20495	0.0493	N	0.14661	0.345	0.09310	N	1	B	0.22909	0.077	B	0.28991	0.097	T	0.32903	-0.9889	10	0.44086	T	0.13	-0.586	3.5902	0.07986	0.4413:0.3133:0.0929:0.1526	.	880	Q9BZ72	PITM2_HUMAN	R	880;601;880	ENSP00000322218:S880R;ENSP00000376223:S601R;ENSP00000437611:S880R	ENSP00000322218:S880R	S	-	1	0	PITPNM2	122040380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.610000	0.00209	-4.103000	0.00073	-2.971000	0.00081	AGC		0.687	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		4	25	0	0	0	1	0	4	25				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	606	0	0	0	1	0	7	606				
FSTL5	56884	broad.mit.edu	37	4	162376242	162376242	+	Silent	SNP	C	C	T	rs544088580	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:162376242C>T	ENST00000306100.5	-	15	2191	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	FSTL5_ENST00000379164.4_Silent_p.T584T|FSTL5_ENST00000536695.1_Silent_p.T584T|FSTL5_ENST00000427802.2_Silent_p.T575T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	585						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T585T(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGGTGTGGATCGTGTGGTGAG	0.433													c|||	2	0.000399361	0.0	0.0	5008	,	,		14538	0.0		0.0	False		,,,				2504	0.002					ENST00000306100.5																			1	Substitution - coding silent(1)	p.T585T(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(1753-1755)acG>acA		follistatin-like 5							149.0	112.0	124.0					4																	162376242		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162376242C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1755G>A	4.37:g.162376242C>T						FSTL5_ENST00000536695.1_Silent_p.T584T|FSTL5_ENST00000427802.2_Silent_p.T575T|FSTL5_ENST00000379164.4_Silent_p.T584T	p.T585T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	15	2191	-	all_hematologic(180;0.24)		585					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.1755G>A	CCDS3802.1																																																																																				0.433	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		6	242	0	0	0	1	0	6	242				
C7orf62	219557	broad.mit.edu	37	7	88424058	88424058	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:88424058C>A	ENST00000297203.2	-	2	384	c.199G>T	c.(199-201)Gac>Tac	p.D67Y	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	67										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCATAGTAGTCAGCAACATCT	0.388																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(199-201)Gac>Tac		chromosome 7 open reading frame 62							122.0	118.0	119.0					7																	88424058		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88424058C>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.199G>T	7.37:g.88424058C>A	ENSP00000297203:p.Asp67Tyr					ZNF804B_ENST00000333190.4_Intron	p.D67Y	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	384	-			67						Missense_Mutation	SNP	ENST00000297203.2	37	c.199G>T	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681301	0.29872	.	.	ENSG00000164645	ENST00000297203	T	0.15256	2.44	6.16	5.28	0.74379	.	0.696409	0.14470	N	0.317618	T	0.28928	0.0718	L	0.45581	1.43	0.18873	N	0.999981	D	0.56968	0.978	P	0.58873	0.847	T	0.07385	-1.0775	10	0.44086	T	0.13	-1.3387	10.4736	0.44652	0.0:0.9147:0.0:0.0853	.	67	Q8TBZ9	CG062_HUMAN	Y	67	ENSP00000297203:D67Y	ENSP00000297203:D67Y	D	-	1	0	C7orf62	88261994	0.971000	0.33674	0.594000	0.28785	0.095000	0.18619	2.648000	0.46647	2.937000	0.99478	0.650000	0.86243	GAC		0.388	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		5	526	1	0	1	1	1	5	526				
DSCAM	1826	broad.mit.edu	37	21	41385178	41385178	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:41385178G>A	ENST00000400454.1	-	33	6299	c.5822C>T	c.(5821-5823)aCg>aTg	p.T1941M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1941				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCAGGACCGTGGGGCGCTT	0.627																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5821-5823)aCg>aTg		Down syndrome cell adhesion molecule							38.0	41.0	40.0					21																	41385178		1960	4142	6102	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385178G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5822C>T	21.37:g.41385178G>A	ENSP00000383303:p.Thr1941Met						p.T1941M	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6299	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1941	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5822C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	19.61	3.860756	0.71834	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.59638	0.25;0.36	5.29	5.29	0.74685	.	0.345440	0.33180	N	0.005197	T	0.38585	0.1046	N	0.08118	0	0.43073	D	0.994714	P	0.48640	0.913	B	0.36666	0.23	T	0.52931	-0.8509	10	0.72032	D	0.01	.	18.9499	0.92637	0.0:0.0:1.0:0.0	.	1941	O60469	DSCAM_HUMAN	M	1941;1675	ENSP00000383303:T1941M;ENSP00000385342:T1675M	ENSP00000383303:T1941M	T	-	2	0	DSCAM	40307048	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.219000	0.95173	2.464000	0.83262	0.557000	0.71058	ACG		0.627	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		87	210	0	0	0	1	0	87	210				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|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)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous 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;CFC, CFCS	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	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		101	238	1	0	1.15629e-50	1	1.3947e-50	101	238				
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T	rs199744032		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:49724313G>T	ENST00000257909.3	+	13	1761	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000551245.1_Missense_Mutation_p.S562I	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	562	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.S562I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCTGTAGGAGTGAGCCTGAG	0.592																																						ENST00000551245.1																			1	Substitution - Missense(1)	p.S562I(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(1684-1686)aGt>aTt		trophinin associated protein		G	ILE/SER	1,4405		0,1,2202	69.0	67.0	68.0		1685	-1.1	0.0	12		68	0,8600		0,0,4300	no	missense	TROAP	NM_005480.3	142	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	562/779	49724313	1,13005	2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724313G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1685G>T	12.37:g.49724313G>T	ENSP00000257909:p.Ser562Ile					TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000257909.3_Missense_Mutation_p.S562I	p.S562I			Q12815	TROAP_HUMAN			13	1796	+			562			4 X 33 AA approximate tandem repeats.|Cys-rich.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1685G>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880628	0.33255	2.27E-4	0.0	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	3.47	-1.09	0.09904	.	.	.	.	.	T	0.15652	0.0377	N	0.22421	0.69	0.09310	N	1	B;B;P	0.35982	0.001;0.001;0.531	B;B;B	0.34779	0.002;0.002;0.189	T	0.14671	-1.0464	8	0.51188	T	0.08	.	1.3245	0.02123	0.2218:0.1838:0.4332:0.1612	.	562;270;562	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	I	562;562;270	.	ENSP00000257909:S562I	S	+	2	0	TROAP	48010580	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.031000	0.13710	-0.625000	0.05604	0.313000	0.20887	AGT		0.592	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		6	396	1	0	0.00198382	1	0.00225346	6	396				
KCNH4	23415	broad.mit.edu	37	17	40323892	40323892	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:40323892G>A	ENST00000264661.3	-	7	1441	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	KCNH4_ENST00000607371.1_Missense_Mutation_p.A370V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	370					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCAAGGAGCGCAAAGACCGA	0.627																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1108-1110)gCg>gTg		potassium voltage-gated channel, subfamily H (eag-related), member 4							94.0	78.0	84.0					17																	40323892		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40323892G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1109C>T	17.37:g.40323892G>A	ENSP00000264661:p.Ala370Val					KCNH4_ENST00000607371.1_Missense_Mutation_p.A370V	p.A370V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	1441	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	370						Missense_Mutation	SNP	ENST00000264661.3	37	c.1109C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879224	0.91740	.	.	ENSG00000089558	ENST00000264661	D	0.97016	-4.21	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.40554	N	0.001070	D	0.94918	0.8357	L	0.45051	1.395	0.58432	D	0.999995	P	0.46706	0.883	P	0.44772	0.46	D	0.94689	0.7872	10	0.45353	T	0.12	.	18.6574	0.91459	0.0:0.0:1.0:0.0	.	370	Q9UQ05	KCNH4_HUMAN	V	370	ENSP00000264661:A370V	ENSP00000264661:A370V	A	-	2	0	KCNH4	37577418	1.000000	0.71417	0.927000	0.36925	0.978000	0.69477	6.398000	0.73244	2.720000	0.93068	0.561000	0.74099	GCG		0.627	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		8	508	0	0	0	1	0	8	508				
ZHX2	22882	broad.mit.edu	37	8	123966034	123966034	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:123966034G>A	ENST00000314393.4	+	3	3119	c.2284G>A	c.(2284-2286)Gca>Aca	p.A762T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	762					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGTTTGCCAGCAAAGCCCTC	0.562																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(2284-2286)Gca>Aca		zinc fingers and homeoboxes 2							71.0	74.0	73.0					8																	123966034		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123966034G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2284G>A	8.37:g.123966034G>A	ENSP00000314709:p.Ala762Thr						p.A762T	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	3119	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		762						Missense_Mutation	SNP	ENST00000314393.4	37	c.2284G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195289	0.38806	.	.	ENSG00000178764	ENST00000314393	T	0.18810	2.19	5.51	3.68	0.42216	.	0.537756	0.20022	N	0.100883	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.16722	0.016	T	0.19484	-1.0304	10	0.40728	T	0.16	-4.8614	10.304	0.43670	0.0728:0.1357:0.7915:0.0	.	762	Q9Y6X8	ZHX2_HUMAN	T	762	ENSP00000314709:A762T	ENSP00000314709:A762T	A	+	1	0	ZHX2	124035215	0.626000	0.27120	0.068000	0.19968	0.708000	0.40852	2.597000	0.46214	0.848000	0.35191	0.561000	0.74099	GCA		0.562	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		5	308	0	0	0	1	0	5	308				
FAM181B	220382	broad.mit.edu	37	11	82444594	82444594	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:82444594G>A	ENST00000329203.3	-	1	312	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	60										large_intestine(1)|lung(2)|prostate(1)	4						GTGGCCTCGCGCACGTCCCCT	0.662																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(178-180)Cgc>Tgc		family with sequence similarity 181, member B							24.0	21.0	22.0					11																	82444594		2202	4300	6502	SO:0001583	missense	220382							g.chr11:82444594G>A	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.178C>T	11.37:g.82444594G>A	ENSP00000365295:p.Arg60Cys						p.R60C	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	312	-			60					B2RWP1	Missense_Mutation	SNP	ENST00000329203.3	37	c.178C>T	CCDS31648.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025614	0.35701	.	.	ENSG00000182103	ENST00000329203	T	0.34275	1.37	3.79	1.62	0.23740	.	0.378309	0.21245	U	0.077752	T	0.41465	0.1160	L	0.43152	1.355	0.43919	D	0.996568	D	0.76494	0.999	D	0.63113	0.911	T	0.18366	-1.0339	9	.	.	.	.	6.0139	0.19592	0.0:0.1346:0.4145:0.4508	.	60	A6NEQ2	F181B_HUMAN	C	60	ENSP00000365295:R60C	.	R	-	1	0	FAM181B	82122242	1.000000	0.71417	0.998000	0.56505	0.004000	0.04260	2.558000	0.45879	0.771000	0.33359	-0.519000	0.04390	CGC		0.662	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		4	100	0	0	0	1	0	4	100				
DNAH7	56171	broad.mit.edu	37	2	196722285	196722285	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:196722285C>A	ENST00000312428.6	-	44	8330	c.8230G>T	c.(8230-8232)Ggt>Tgt	p.G2744C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2744	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCATGTCACCAAGAAGTCTC	0.378																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(8230-8232)Ggt>Tgt		dynein, axonemal, heavy chain 7							83.0	81.0	82.0					2																	196722285		1821	4075	5896	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196722285C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8230G>T	2.37:g.196722285C>A	ENSP00000311273:p.Gly2744Cys						p.G2744C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			44	8330	-			2744			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.8230G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511628	0.85389	.	.	ENSG00000118997	ENST00000312428	T	0.75589	-0.95	5.27	5.27	0.74061	Dynein heavy chain, coiled coil stalk (1);	0.056534	0.64402	D	0.000001	D	0.92021	0.7472	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94793	0.7964	10	0.87932	D	0	.	18.6863	0.91565	0.0:1.0:0.0:0.0	.	2744	Q8WXX0	DYH7_HUMAN	C	2744	ENSP00000311273:G2744C	ENSP00000311273:G2744C	G	-	1	0	DNAH7	196430530	1.000000	0.71417	0.850000	0.33497	0.946000	0.59487	5.893000	0.69798	2.732000	0.93576	0.650000	0.86243	GGT		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		7	576	1	0	1	1	1	7	576				
FBLN2	2199	broad.mit.edu	37	3	13679167	13679167	+	Silent	SNP	G	G	A	rs201725233		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:13679167G>A	ENST00000295760.7	+	17	3372	c.3303G>A	c.(3301-3303)gcG>gcA	p.A1101A	FBLN2_ENST00000535798.1_Silent_p.A1127A|FBLN2_ENST00000492059.1_Silent_p.A1148A|FBLN2_ENST00000404922.3_Silent_p.A1148A	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1101	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TGGTGCCTGCGCATATCTTCC	0.637																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3442-3444)gcG>gcA		fibulin 2		G	,,	5,4343		0,5,2169	46.0	51.0	49.0		3444,3444,3303	-9.5	0.0	3		49	0,8544		0,0,4272	yes	coding-synonymous,coding-synonymous,coding-synonymous	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	,,	0,5,6441	AA,AG,GG		0.0,0.115,0.0388	,,	1148/1232,1148/1232,1101/1185	13679167	5,12887	2174	4272	6446	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679167G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3303G>A	3.37:g.13679167G>A						FBLN2_ENST00000535798.1_Silent_p.A1127A|FBLN2_ENST00000492059.1_Silent_p.A1148A|FBLN2_ENST00000295760.7_Silent_p.A1101A	p.A1148A	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		18	3563	+			1101			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.3444G>A	CCDS46762.1																																																																																				0.637	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		5	249	0	0	0	1	0	5	249				
BTBD11	121551	broad.mit.edu	37	12	108013765	108013765	+	Missense_Mutation	SNP	G	G	A	rs201620480		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:108013765G>A	ENST00000280758.5	+	11	2983	c.2455G>A	c.(2455-2457)Gtc>Atc	p.V819I	BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	819						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCTCCAGGCGTCCCGTGGAC	0.587																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2455-2457)Gtc>Atc		BTB (POZ) domain containing 11		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	25.0	24.0	24.0		1066,2455	5.2	1.0	12		24	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	BTBD11	NM_001017523.1,NM_001018072.1	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	356/642,819/1105	108013765	2,13004	2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108013765G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2455G>A	12.37:g.108013765G>A	ENSP00000280758:p.Val819Ile					BTBD11_ENST00000357167.4_Missense_Mutation_p.V356I|BTBD11_ENST00000420571.2_Missense_Mutation_p.V700I|BTBD11_ENST00000490090.2_Missense_Mutation_p.V819I	p.V819I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			11	2983	+			819					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.2455G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868192	0.91587	2.27E-4	1.16E-4	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.55052	0.65;0.65;0.67;0.54	5.15	5.15	0.70609	.	0.117935	0.56097	D	0.000021	T	0.72495	0.3467	M	0.70275	2.135	0.80722	D	1	D;P;D;D	0.71674	0.998;0.508;0.987;0.99	D;B;B;P	0.73708	0.981;0.073;0.403;0.496	T	0.75560	-0.3275	10	0.66056	D	0.02	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	700;356;819;819	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	I	819;700;819;356	ENSP00000280758:V819I;ENSP00000413889:V700I;ENSP00000447319:V819I;ENSP00000349690:V356I	ENSP00000280758:V819I	V	+	1	0	BTBD11	106537895	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.975000	0.88055	2.398000	0.81561	0.650000	0.86243	GTC		0.587	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		30	101	0	0	0	1	0	30	101				
HECTD4	283450	broad.mit.edu	37	12	112667558	112667558	+	Missense_Mutation	SNP	C	C	A	rs200222003		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:112667558C>A	ENST00000430131.2	-	40	6342	c.5197G>T	c.(5197-5199)Gca>Tca	p.A1733S	HECTD4_ENST00000550722.1_Missense_Mutation_p.A2009S|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1983S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1733					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCACACAGTGCGGCAACGGCC	0.493																																						ENST00000550722.1																			0											c.(6025-6027)Gca>Tca		HECT domain containing E3 ubiquitin protein ligase 4							162.0	164.0	164.0					12																	112667558		1967	4131	6098	SO:0001583	missense	283450							g.chr12:112667558C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5197G>T	12.37:g.112667558C>A	ENSP00000404379:p.Ala1733Ser					HECTD4_ENST00000430131.2_Missense_Mutation_p.A1733S|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1983S	p.A2009S	NM_001109662.3	NP_001103132.3					41	6420	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.6025G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.733030	0.96856	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.59638	0.25;0.27;0.25	5.96	5.96	0.96718	.	.	.	.	.	T	0.66247	0.2770	N	0.19112	0.55	0.58432	D	0.999999	D	0.63880	0.993	D	0.72075	0.976	T	0.69555	-0.5114	9	0.87932	D	0	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1733	Q9Y4D8	K0614_HUMAN	S	1983;1733;2009	ENSP00000366783:A1983S;ENSP00000404379:A1733S;ENSP00000449784:A2009S	ENSP00000366783:A1983S	A	-	1	0	C12orf51	111151941	1.000000	0.71417	0.314000	0.25224	0.842000	0.47809	7.251000	0.78297	2.831000	0.97527	0.650000	0.86243	GCA		0.493	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	657	1	0	0.184627	1	0.200013	5	657				
FAM178A	55719	broad.mit.edu	37	10	102672997	102672997	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:102672997C>T	ENST00000238961.4	+	1	672	c.130C>T	c.(130-132)Cct>Tct	p.P44S	FAM178A_ENST00000370271.3_Missense_Mutation_p.P44S|RP11-179B2.2_ENST00000608554.1_RNA|FAM178A_ENST00000609386.1_Missense_Mutation_p.P44S|FAM178A_ENST00000370269.3_Missense_Mutation_p.P44S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	44						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AACAGAGAGTCCTGGGGACAG	0.682																																						ENST00000238961.3																			0											c.(130-132)Cct>Tct		family with sequence similarity 178, member A							22.0	24.0	23.0					10																	102672997		2199	4300	6499	SO:0001583	missense	0							g.chr10:102672997C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.130C>T	10.37:g.102672997C>T	ENSP00000238961:p.Pro44Ser					FAM178A_ENST00000370269.3_Missense_Mutation_p.P44S|FAM178A_ENST00000370271.3_Missense_Mutation_p.P44S	p.P44S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			1	278	+			44					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.130C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545875	0.86022	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.61392	0.11;0.85;0.81	5.25	5.25	0.73442	.	0.000000	0.53938	D	0.000044	T	0.63745	0.2537	N	0.24115	0.695	0.35168	D	0.771306	D;D;D	0.89917	0.995;0.995;1.0	D;D;D	0.87578	0.919;0.919;0.998	T	0.72204	-0.4361	10	0.72032	D	0.01	-15.2639	14.5237	0.67873	0.0:1.0:0.0:0.0	.	44;44;44	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	S	44	ENSP00000359294:P44S;ENSP00000238961:P44S;ENSP00000359292:P44S	ENSP00000238961:P44S	P	+	1	0	FAM178A	102662987	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.254000	0.51477	2.890000	0.99128	0.585000	0.79938	CCT		0.682	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			16	28	0	0	0	1	0	16	28				
ZBTB44	29068	broad.mit.edu	37	11	130131642	130131642	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:130131642G>A	ENST00000357899.4	-	2	399	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ZBTB44_ENST00000397753.1_Missense_Mutation_p.R43W|ZBTB44_ENST00000530205.1_Missense_Mutation_p.R43W|ZBTB44_ENST00000525842.1_Missense_Mutation_p.R43W			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	43	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TTATGTGCCCGGAAGATTTTG	0.453																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(127-129)Cgg>Tgg		zinc finger and BTB domain containing 44							141.0	137.0	138.0					11																	130131642		1922	4129	6051	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130131642G>A	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.127C>T	11.37:g.130131642G>A	ENSP00000350574:p.Arg43Trp					ZBTB44_ENST00000397753.1_Missense_Mutation_p.R43W|ZBTB44_ENST00000530205.1_Missense_Mutation_p.R43W|ZBTB44_ENST00000357899.4_Missense_Mutation_p.R43W	p.R43W	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	494	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	43			BTB.		Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.127C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.36|16.36	3.102184|3.102184	0.56183|0.56183	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205	.|T;T;T;T;T	.|0.69561	.|-0.41;-0.41;-0.41;-0.41;-0.41	6.07|6.07	4.21|4.21	0.49690|0.49690	.|BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.|0.259539	.|0.40908	.|D	.|0.000991	T|T	0.72835|0.72835	0.3510|0.3510	M|M	0.71581|0.71581	2.175|2.175	0.44711|0.44711	D|D	0.997702|0.997702	.|D;D;B;B	.|0.67145	.|0.996;0.996;0.012;0.01	.|P;P;B;B	.|0.53861	.|0.736;0.736;0.005;0.003	T|T	0.74657|0.74657	-0.3592|-0.3592	5|10	.|0.87932	.|D	.|0	.|.	9.5926|9.5926	0.39554|0.39554	0.0681:0.0:0.6305:0.3014|0.0681:0.0:0.6305:0.3014	.|.	.|43;43;43;43	.|Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2	.|.;.;ZBT44_HUMAN;.	L|W	39|43	.|ENSP00000433457:R43W;ENSP00000380861:R43W;ENSP00000408079:R43W;ENSP00000350574:R43W;ENSP00000434177:R43W	.|ENSP00000350574:R43W	P|R	-|-	2|1	0|2	ZBTB44|ZBTB44	129636852|129636852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.616000|1.616000	0.36933|0.36933	0.897000|0.897000	0.36392|0.36392	-0.169000|-0.169000	0.13324|0.13324	CCG|CGG		0.453	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		6	631	0	0	0	1	0	6	631				
PCNT	5116	broad.mit.edu	37	21	47754463	47754463	+	Silent	SNP	A	A	G	rs527413251		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542													a|||	1	0.000199681	0.0	0.0	5008	,	,		19704	0.0		0.0	False		,,,				2504	0.001					ENST00000359568.5																			1	Substitution - coding silent(1)	p.P140P(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(418-420)ccA>ccG		pericentrin							180.0	120.0	140.0					21																	47754463		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754463A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.420A>G	21.37:g.47754463A>G						PCNT_ENST00000480896.1_3'UTR	p.P140P	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	527	+	Breast(49;0.112)		140					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.420A>G	CCDS33592.1																																																																																				0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	348	0	0	0	1	0	6	348				
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgcctc>tgc	p.L137del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	137					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(394-399)tgc>tg		exostosin-like glycosyltransferase 1																																				SO:0001651	inframe_deletion	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349533_26349535delCCT	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.396_398delCCT	1.37:g.26349542_26349544delCCT	ENSP00000363398:p.Leu137del						p.CL132del	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1263_1265	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	132					Q6GSC1	In_Frame_Del	DEL	ENST00000374280.3	37	c.396_398delCCT	CCDS271.1																																																																																				0.606	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		8	270						8	270	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:39799059_39799060insG	ENST00000372915.3	+	36	6901_6902	c.6814_6815insG	c.(6814-6816)aggfs	p.R2272fs	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.R2267fs|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6799-6801)ggafs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799059_39799060insG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6817dupG	1.37:g.39799062_39799062dupG	ENSP00000362006:p.Arg2272fs					MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs	p.G2267fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7576_7577	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2272					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37	c.6799_6800insG																																																																																					0.391	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		8	297						8	297	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145299839	145299839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:145299839delC	ENST00000369338.1	+	2	265	c.75delC	c.(73-75)cgcfs	p.R25fs	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_Frame_Shift_Del_p.R296fs|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	296						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGAAATTGCGCCCCCAGCTGG	0.483																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(886-888)cgfs		neuroblastoma breakpoint family, member 10							15.0	13.0	13.0					1																	145299839		690	1577	2267	SO:0001589	frameshift_variant	100132406							g.chr1:145299839delC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.75delC	1.37:g.145299839delC	ENSP00000358344:p.Arg25fs					NBPF10_ENST00000369338.1_Frame_Shift_Del_p.R25fs|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R296fs	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	6	923	+	all_hematologic(923;0.032)		296					Q5RHC0|Q9NWN6	Frame_Shift_Del	DEL	ENST00000369338.1	37	c.888delC																																																																																					0.483	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		7	2224						7	2224	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584023	145584023	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:145584023delC	ENST00000393045.2	+	10	1344	c.1254delC	c.(1252-1254)tgcfs	p.C418fs	PIAS3_ENST00000369298.1_Frame_Shift_Del_p.C383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGAGGTTTGCCCCCCGCCAG	0.502																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tgfs		protein inhibitor of activated STAT, 3							191.0	200.0	197.0					1																	145584023		2203	4300	6503	SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584023delC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1254delC	1.37:g.145584023delC	ENSP00000376765:p.Cys418fs					PIAS3_ENST00000369298.1_Frame_Shift_Del_p.C383fs	p.C418fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			10	1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Del	DEL	ENST00000393045.2	37	c.1254delC	CCDS920.2																																																																																				0.502	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		7	1896						7	1896	---	---	---	---
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gaggac>gac	p.E171del	MCL1_ENST00000307940.3_In_Frame_Del_p.E171del|MCL1_ENST00000464132.1_5'Flank	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	171	PEST-like.				apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635																																						ENST00000369026.2																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(511-516)gac>ga		myeloid cell leukemia sequence 1 (BCL2-related)			,,	70,4190		29,12,2089					,,	1.0	1.0			54	109,8145		46,17,4064	no	coding,coding,intron	MCL1	NM_182763.2,NM_021960.4,NM_001197320.1	,,	75,29,6153	A1A1,A1R,RR		1.3206,1.6432,1.4304	,,	,,		179,12335				SO:0001651	inframe_deletion	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551492_150551494delTCC	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.513_515delGGA	1.37:g.150551501_150551503delTCC	ENSP00000358022:p.Glu171del					MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del	p.ED171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	572_574	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		171			PEST-like.		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	In_Frame_Del	DEL	ENST00000369026.2	37	c.513_515delGGA	CCDS957.1																																																																																				0.635	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		7	607						7	607	---	---	---	---
CELF3	11189	broad.mit.edu	37	1	151678723	151678725	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:151678723_151678725delTGC	ENST00000290583.4	-	10	1894_1896	c.1101_1103delGCA	c.(1099-1104)cagcaa>caa	p.367_368QQ>Q	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_In_Frame_Del_p.162_163QQ>Q|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_In_Frame_Del_p.317_318QQ>Q	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	367	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.Q367Q(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ctgctgctgttgctgctgctgct	0.66																																						ENST00000290583.4																			1	Substitution - coding silent(1)	p.Q367Q(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(1099-1104)caa>ca		CUGBP, Elav-like family member 3			,,	116,270,51,3719		8,1,1,98,15,0,239,6,38,1672					,,	1.4	1.0			20	9,589,2,7444		0,1,0,8,25,0,538,0,2,3448	no	codingComplex,codingComplex,codingComplex	CELF3	NM_007185.4,NM_001172649.1,NM_001172648.1	,,	8,2,1,106,40,0,777,6,40,5120	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		7.459,10.5149,8.5	,,	,,		125,859,53,11163				SO:0001651	inframe_deletion	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151678723_151678725delTGC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1101_1103delGCA	1.37:g.151678732_151678734delTGC	ENSP00000290583:p.Gln373del					CELF3_ENST00000290585.4_In_Frame_Del_p.QQ321del|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_In_Frame_Del_p.QQ166del|RP11-98D18.1_ENST00000457548.1_RNA	p.QQ371del	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			10	1894_1896	-			371			Gln-rich.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	In_Frame_Del	DEL	ENST00000290583.4	37	c.1101_1103delGCA	CCDS1002.1																																																																																				0.660	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		10	97						10	97	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		13	607						13	607	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179620102	179620102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:179620102delT	ENST00000367614.1	+	12	2260	c.1901delT	c.(1900-1902)attfs	p.I634fs	TDRD5_ENST00000444136.1_Frame_Shift_Del_p.I634fs|TDRD5_ENST00000294848.8_Frame_Shift_Del_p.I634fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	634					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTTAACATTTTTTTGTGT	0.408																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1900-1902)atfs		tudor domain containing 5							194.0	183.0	187.0					1																	179620102		2203	4300	6503	SO:0001589	frameshift_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179620102delT	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1901delT	1.37:g.179620102delT	ENSP00000356586:p.Ile634fs					TDRD5_ENST00000367614.1_Frame_Shift_Del_p.I634fs|TDRD5_ENST00000294848.8_Frame_Shift_Del_p.I634fs	p.I634fs	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			12	2151	+			634					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Frame_Shift_Del	DEL	ENST00000367614.1	37	c.1901delT	CCDS1332.1																																																																																				0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		7	955						7	955	---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193111146	193111147	+	Frame_Shift_Del	DEL	AG	AG	-	rs145694828|rs80356649		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:193111146_193111147delAG	ENST00000367435.3	+	7	863_864	c.679_680delAG	c.(679-681)agafs	p.R227fs		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	227	Interaction with CTNNB1.|Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TATTGTCAGCAGAGAGAGAGTA	0.401																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(679-681)afs		cell division cycle 73																																				SO:0001589	frameshift_variant	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111146_193111147delAG	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.679_680delAG	1.37:g.193111154_193111155delAG	ENSP00000356405:p.Arg227fs						p.R227fs	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			7	863_864	+			227					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Frame_Shift_Del	DEL	ENST00000367435.3	37	c.679_680delAG	CCDS1382.1																																																																																				0.401	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		9	550						9	550	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204412620	204412621	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:204412620_204412621insT	ENST00000367187.3	-	20	3528_3529	c.2972_2973insA	c.(2971-2973)aacfs	p.N991fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.N963fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	991					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGCACTGGCGGTTAAACTCTTC	0.604																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(2971-2973)acgfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta																																				SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204412620_204412621insT	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2973dupA	1.37:g.204412622_204412622dupT	ENSP00000356155:p.Asn991fs					PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.T963fs	p.T991fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		20	3528_3529	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		991					O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.2972_2973insA	CCDS1446.1																																																																																				0.604	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		7	1499						7	1499	---	---	---	---
RBM34	23029	broad.mit.edu	37	1	235323838	235323838	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:235323838delT	ENST00000408888.3	-	3	583	c.353delA	c.(352-354)aagfs	p.K118fs	RBM34_ENST00000366606.3_Frame_Shift_Del_p.K113fs			P42696	RBM34_HUMAN	RNA binding motif protein 34	118						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GTCTGCCAACTTTTTTTCTGC	0.343																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.(352-354)agfs		RNA binding motif protein 34							200.0	177.0	184.0					1																	235323838		1831	4078	5909	SO:0001589	frameshift_variant	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235323838delT		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.353delA	1.37:g.235323838delT	ENSP00000386226:p.Lys118fs					RBM34_ENST00000366606.3_Frame_Shift_Del_p.K113fs	p.K118fs			P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		3	583	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	118					A8K8J7|Q8N2Z8|Q9H5A1	Frame_Shift_Del	DEL	ENST00000408888.3	37	c.353delA	CCDS41477.2																																																																																				0.343	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		7	1496						7	1496	---	---	---	---
OR14C36	127066	broad.mit.edu	37	1	248512383	248512384	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr1:248512383_248512384insT	ENST00000317861.1	+	1	307_308	c.307_308insT	c.(307-309)gttfs	p.V103fs		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F105fs*28(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTTCCTCGTGGTTTTTTTTGTA	0.48																																						ENST00000317861.1																			1	Deletion - Frameshift(1)	p.F105fs*28(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(307-309)tttfs		olfactory receptor, family 14, subfamily C, member 36				1,4261		0,1,2130						-6.8	0.0			63	1,8243		0,1,4121	no	frameshift	OR14C36	NM_001001918.1		0,2,6251	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12504				SO:0001589	frameshift_variant	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512383_248512384insT	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.315dupT	1.37:g.248512391_248512391dupT	ENSP00000324534:p.Val103fs						p.F103fs	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	307_308	+			103					Q6IEZ6	Frame_Shift_Ins	INS	ENST00000317861.1	37	c.307_308insT	CCDS31112.1																																																																																				0.480	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		7	418						7	418	---	---	---	---
RAB11FIP5	26056	broad.mit.edu	37	2	73303156	73303156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:73303156delG	ENST00000258098.6	-	4	1963	c.1723delC	c.(1723-1725)cagfs	p.Q575fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	575					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.Q575fs*11(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGGCCAGCCTGGGGGGCCTGG	0.602																																						ENST00000258098.6																			1	Deletion - Frameshift(1)	p.Q575fs*11(1)	lung(1)	biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1723-1725)agfs		RAB11 family interacting protein 5 (class I)							122.0	128.0	126.0					2																	73303156		2203	4300	6503	SO:0001589	frameshift_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73303156delG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1723delC	2.37:g.73303156delG	ENSP00000258098:p.Gln575fs					RAB11FIP5_ENST00000493523.2_5'UTR	p.Q575fs	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			4	1963	-			575					O94939|Q9P0M1	Frame_Shift_Del	DEL	ENST00000258098.6	37	c.1723delC	CCDS1923.1																																																																																				0.602	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		8	1151						8	1151	---	---	---	---
SMYD5	10322	broad.mit.edu	37	2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr2:73453009_73453011delGAG	ENST00000389501.4	+	13	1237_1239	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1192-1194)del		SMYD family member 5																																				SO:0001651	inframe_deletion	10322						metal ion binding	g.chr2:73453009_73453011delGAG	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1192_1194delGAG	2.37:g.73453018_73453020delGAG	ENSP00000374152:p.Glu403del						p.E403del	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			13	1237_1239	+			403			Glu-rich.		D6W5H3|Q13558	In_Frame_Del	DEL	ENST00000389501.4	37	c.1192_1194delGAG	CCDS33221.2																																																																																				0.562	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		9	443						9	443	---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38271915	38271915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:38271915delA	ENST00000446845.1	+	10	1317	c.945delA	c.(943-945)gcafs	p.A315fs	OXSR1_ENST00000311806.3_Frame_Shift_Del_p.A315fs					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGAAAGAGCAAAAAAGGTAA	0.274																																						ENST00000311806.3																			0				skin(1)	1						c.(943-945)gcfs		oxidative stress responsive 1							62.0	75.0	71.0					3																	38271915		2203	4291	6494	SO:0001589	frameshift_variant	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38271915delA	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.945delA	3.37:g.38271915delA	ENSP00000415851:p.Ala315fs					OXSR1_ENST00000446845.1_Frame_Shift_Del_p.A315fs	p.A315fs	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	10	1317	+			315						Frame_Shift_Del	DEL	ENST00000446845.1	37	c.945delA																																																																																					0.274	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		7	1018						7	1018	---	---	---	---
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-	rs373179673	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr3:142895155delC	ENST00000560287.1	+	0	29									pre-B-cell leukemia homeobox 2 pseudogene 1																		GGCCTCAGGGCCCCCCCCCAG	0.746													|||unknown(ALL_OTHER_Ns)	2344	0.468051	0.7186	0.3357	5008	,	,		7117	0.2887		0.4036	False		,,,				2504	0.4744					ENST00000560287.1																			0																																																			0							g.chr3:142895155delC			3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142895155delC														0	29	+									RNA	DEL	ENST00000560287.1	37																																																																																						0.746	PBX2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417717.1	NG_002434		9	13						9	13	---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1955146	1955146	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:1955146delA	ENST00000382895.3	+	14	2664	c.2233delA	c.(2233-2235)aaafs	p.K746fs	WHSC1_ENST00000382888.3_Frame_Shift_Del_p.K94fs|WHSC1_ENST00000382891.5_Frame_Shift_Del_p.K746fs|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.K746fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Frame_Shift_Del_p.K746fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	746					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGCTTGTGTGAAAAAATACCC	0.488			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(2233-2235)aafs		Wolf-Hirschhorn syndrome candidate 1							163.0	173.0	170.0					4																	1955146		2203	4300	6503	SO:0001589	frameshift_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1955146delA	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2233delA	4.37:g.1955146delA	ENSP00000372351:p.Lys746fs					WHSC1_ENST00000508803.1_Frame_Shift_Del_p.K746fs|WHSC1_ENST00000382888.3_Frame_Shift_Del_p.K94fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Frame_Shift_Del_p.K746fs|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.K746fs	p.K746fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	14	2664	+		all_epithelial(65;1.34e-05)	746					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Del	DEL	ENST00000382895.3	37	c.2233delA	CCDS33940.1																																																																																				0.488	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		8	1374						8	1374	---	---	---	---
FAM86EP	348926	broad.mit.edu	37	4	3954909	3954910	+	RNA	INS	-	-	G	rs561505684	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:3954909_3954910insG	ENST00000313946.8	-	0	92				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		CTCTGTGTGGAGGGGAGAGAGA	0.48																																						ENST00000281228.8																			0																																																			0							g.chr4:3954909_3954910insG			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954913_3954913dupG						FAM86EP_ENST00000313946.8_RNA								0	98	-									RNA	INS	ENST00000313946.8	37																																																																																						0.480	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			15	509						15	509	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48604083	48604083	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:48604083delA	ENST00000503238.1	-	10	988	c.989delT	c.(988-990)ttafs	p.L330fs	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Frame_Shift_Del_p.L330fs|FRYL_ENST00000507711.1_Frame_Shift_Del_p.L330fs|FRYL_ENST00000506685.1_Frame_Shift_Del_p.L36fs|FRYL_ENST00000358350.4_Frame_Shift_Del_p.L330fs			O94915	FRYL_HUMAN	FRY-like	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.L330fs*3(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCAGTTATTTAAAAAAAATTG	0.308																																						ENST00000358350.4																			1	Insertion - Frameshift(1)	p.L330fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(988-990)tafs		FRY-like							55.0	55.0	55.0					4																	48604083		1793	4051	5844	SO:0001589	frameshift_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48604083delA	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.989delT	4.37:g.48604083delA	ENSP00000426064:p.Leu330fs					FRYL_ENST00000503238.1_Frame_Shift_Del_p.L330fs|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Frame_Shift_Del_p.L36fs|FRYL_ENST00000537810.1_Frame_Shift_Del_p.L330fs|FRYL_ENST00000507711.1_Frame_Shift_Del_p.L330fs	p.L330fs	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			13	1593	-			330					O95640|Q8WTZ5|Q9NT40	Frame_Shift_Del	DEL	ENST00000503238.1	37	c.989delT	CCDS43227.1																																																																																				0.308	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			8	834						8	834	---	---	---	---
GK2	2712	broad.mit.edu	37	4	80328580	80328580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:80328580delC	ENST00000358842.3	-	1	792	c.775delG	c.(775-777)gacfs	p.D259fs		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCACATTGGTCCCCCAAACAC	0.458																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(775-777)acfs		glycerol kinase 2							99.0	94.0	96.0					4																	80328580		2203	4300	6503	SO:0001589	frameshift_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328580delC	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.775delG	4.37:g.80328580delC	ENSP00000351706:p.Asp259fs						p.D259fs	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	792	-			259					Q7Z4Q4	Frame_Shift_Del	DEL	ENST00000358842.3	37	c.775delG	CCDS3585.1																																																																																				0.458	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		7	801						7	801	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83745800	83745800	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr4:83745800delT	ENST00000395310.2	-	25	3501	c.3319delA	c.(3319-3321)attfs	p.I1107fs	SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I1120fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1107	Interaction with PDCD6.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTGGTAATTTTTTTTGTT	0.388																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(3358-3360)ttfs		SEC31 homolog A (S. cerevisiae)							147.0	145.0	145.0					4																	83745800		2203	4300	6503	SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83745800delT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3319delA	4.37:g.83745800delT	ENSP00000378721:p.Ile1107fs					SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs	p.I1120fs			O94979	SC31A_HUMAN			26	3521	-		Hepatocellular(203;0.114)	1107					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	c.3358delA	CCDS3596.1																																																																																				0.388	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		7	278						7	278	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45303785	45303785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:45303785delT	ENST00000303230.4	-	6	1591	c.1534delA	c.(1534-1536)atgfs	p.M512fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	512					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.M512fs*17(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGAAATACATTTTTTTACCC	0.398																																						ENST00000303230.4																			1	Insertion - Frameshift(1)	p.M512fs*17(1)	large_intestine(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1534-1536)tgfs		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							110.0	107.0	108.0					5																	45303785		2203	4300	6503	SO:0001589	frameshift_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303785delT	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1534delA	5.37:g.45303785delT	ENSP00000307342:p.Met512fs						p.M512fs	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			6	1591	-			512						Frame_Shift_Del	DEL	ENST00000303230.4	37	c.1534delA	CCDS3952.1																																																																																				0.398	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		8	609						8	609	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118525523	118525524	+	Frame_Shift_Ins	INS	-	-	G	rs17144964|rs376776822	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:118525523_118525524insG	ENST00000311085.8	+	29	7336_7337	c.7256_7257insG	c.(7255-7260)gcggttfs	p.V2420fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.V2420fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2420										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGTCACTGGCGGTTAAAGAAA	0.421																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7255-7257)ggtfs		Dmx-like 1																																				SO:0001589	frameshift_variant	1657							g.chr5:118525523_118525524insG	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7258dupG	5.37:g.118525525_118525525dupG	ENSP00000309690:p.Val2420fs					DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs	p.G2419fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	29	7336_7337	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2419						Frame_Shift_Ins	INS	ENST00000311085.8	37	c.7256_7257insG	CCDS4125.1																																																																																				0.421	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		8	837						8	837	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																						ENST00000200652.3																			1	Insertion - Frameshift(1)	p.E509fs*1(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1513-1515)ctfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	p.L505fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1688	+		all_cancers(142;0.0752)|Breast(839;0.198)	505					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		10	967						10	967	---	---	---	---
TIGD6	81789	broad.mit.edu	37	5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr5:149375600delT	ENST00000296736.3	-	2	1086	c.312delA	c.(310-312)aaafs	p.K104fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	104	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTTAGTGCTTTTTTCCGAA	0.423																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(310-312)aafs		tigger transposable element derived 6							169.0	167.0	168.0					5																	149375600		2203	4300	6503	SO:0001589	frameshift_variant	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375600delT	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.312delA	5.37:g.149375600delT	ENSP00000296736:p.Lys104fs					TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1086	-			104			HTH CENPB-type.		B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	ENST00000296736.3	37	c.312delA	CCDS4301.1																																																																																				0.423	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		9	1639						9	1639	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000478221.1_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	804						8	804	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(31-33)del		triggering receptor expressed on myeloid cells-like 2				143,4121		8,127,1997						4.0	1.0			26	249,8005		8,233,3886	no	coding	TREML2	NM_024807.2		16,360,5883	A1A1,A1R,RR		3.0167,3.3537,3.1315				392,12126				SO:0001651	inframe_deletion	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168714_41168716delCAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33delCTG	6.37:g.41168723_41168725delCAG	ENSP00000418767:p.Leu11del						p.L11del	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			1	216_218	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		11					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Del	DEL	ENST00000483722.1	37	c.31_33delCTG	CCDS4853.2																																																																																				0.631	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		8	168						8	168	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gafs		KIAA0408							236.0	227.0	230.0					6																	127767596		2203	4300	6503	SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767596delC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1868delG	6.37:g.127767596delC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.G623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	ENST00000483725.3	37	c.1868delG	CCDS34531.1																																																																																				0.398	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		7	1087						7	1087	---	---	---	---
LOC100130849	100130849	broad.mit.edu	37	7	56943450	56943453	+	RNA	DEL	CTCA	CTCA	-	rs139766983		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:56943450_56943453delCTCA	ENST00000448242.1	-	0	373					NR_038450.1																						ggaactgtttctcactcaccctta	0.529																																						ENST00000448242.1																			0																																																			0							g.chr7:56943450_56943453delCTCA																													7.37:g.56943454_56943457delCTCA								NR_038450.1						0	373	-									RNA	DEL	ENST00000448242.1	37																																																																																						0.529	RP13-580B18.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343753.1			5	5						5	5	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112242	76112243	+	Frame_Shift_Ins	INS	-	-	C	rs143934697		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:76112242_76112243insC	ENST00000324432.5	+	5	1196_1197	c.686_687insC	c.(685-690)caccccfs	p.HP229fs	DTX2_ENST00000446600.1_Frame_Shift_Ins_p.HP138fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.HP229fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	229					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTCCCCCAGCACCCCCCACACA	0.649																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(685-687)cccfs		deltex homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112242_76112243insC		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.692dupC	7.37:g.76112248_76112248dupC	ENSP00000322885:p.His229fs					DTX2_ENST00000307569.8_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.P138fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.P229fs	p.P229fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1196_1197	+			229					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Ins	INS	ENST00000324432.5	37	c.686_687insC	CCDS5587.1																																																																																				0.649	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			9	1388						9	1388	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagagfs	p.E1663fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E1663fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E1651fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1663					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4984-4989)tcagfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91671392_91671393delAG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4986_4987delAG	7.37:g.91671402_91671403delAG	ENSP00000351922:p.Glu1663fs					AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs	p.SE1662fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	5211_5212	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1662					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.4986_4987delAG																																																																																					0.411	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		8	475						8	475	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.7																																						ENST00000275732.5																			1	Deletion - In frame(1)	p.E210delE(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(628-633)ggc>g		GRB10 interacting GYF protein 1				14,2,4238		0,0,14,0,2,2111						5.0	1.0			29	36,2,8190		0,0,36,0,2,4076	no	codingComplex	GIGYF1	NM_022574.4		0,0,50,0,4,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4618,0.3761,0.4326				50,4,12428				SO:0001651	inframe_deletion	64599							g.chr7:100284335_100284337delCCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629_631delAGG	7.37:g.100284344_100284346delCCT	ENSP00000275732:p.Glu210del					GIGYF1_ENST00000471340.2_Intron	p.EG210del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1838_1840	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		210			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.629_631delAGG	CCDS34708.1																																																																																				0.700	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		11	262						11	262	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|AC020606.1_ENST00000580664.1_RNA			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	410						7	410	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099832	142099833	+	RNA	DEL	CA	CA	-	rs377589241|rs150299545|rs527701975	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:142099832_142099833delCA	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		accactctctcacacacacaca	0.455																																						ENST00000390359.3																			0																	68,3612		7,54,1779						-5.2	0.0			58	51,7855		15,21,3917	no	intergenic				22,75,5696	A1A1,A1R,RR		0.6451,1.8478,1.0271				119,11467						0							g.chr7:142099832_142099833delCA	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099842_142099843delCA														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.455	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		8	404						8	404	---	---	---	---
TRBV6-8	28599	broad.mit.edu	37	7	142124496	142124497	+	RNA	INS	-	-	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr7:142124496_142124497insG	ENST00000390376.2	-	0	49									T cell receptor beta variable 6-8																		AATCCACGCAAGGGCCCTGCCC	0.614																																						ENST00000390376.2																			0																																																			0							g.chr7:142124496_142124497insG	L36092		7q34	2012-02-07			ENSG00000253534	ENSG00000253534		"""T cell receptors / TRB locus"""	12233	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV68, TCRBV13S7P, TCRBV6S8			OTTHUMG00000158916		7.37:g.142124499_142124499dupG														0	49	-									RNA	INS	ENST00000390376.2	37																																																																																						0.614	TRBV6-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352531.2	NG_001333		10	614						10	614	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191583	7191584	+	lincRNA	DEL	AC	AC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:7191583_7191584delAC	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		acgcacgcaaacacacacacac	0.51																																						ENST00000606573.1																			0																																																			0							g.chr8:7191583_7191584delAC			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191593_7191594delAC														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.510	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		9	91						9	91	---	---	---	---
LOC101929066	101929066	broad.mit.edu	37	8	17947397	17947398	+	RNA	INS	-	-	T	rs146025812|rs115192608|rs34486852	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:17947397_17947398insT	ENST00000505114.2	+	0	902				CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000499554.2_RNA|CTD-2547L16.1_ENST00000521775.1_RNA|CTD-2547L16.1_ENST00000517747.1_RNA																							TAATGCTAttcttttttttttt	0.376													|||unknown(LONG_INSERTION)	2520	0.503195	0.5847	0.4986	5008	,	,		16529	0.3343		0.5517	False		,,,				2504	0.5204					ENST00000499554.2																			0																																																			0							g.chr8:17947397_17947398insT																													8.37:g.17947408_17947408dupT						CTD-2547L16.1_ENST00000521775.1_RNA								0	483	+									RNA	INS	ENST00000505114.2	37																																																																																						0.376	CTD-2547L16.1-003	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000375014.1			9	21						9	21	---	---	---	---
TG	7038	broad.mit.edu	37	8	133995617	133995617	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr8:133995617delT	ENST00000220616.4	+	35	6262	c.6222delT	c.(6220-6222)agtfs	p.S2074fs	TG_ENST00000542445.1_Frame_Shift_Del_p.S444fs|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Frame_Shift_Del_p.S2017fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2074					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGCTCCCAGTTTTTGCCCTT	0.398																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(6220-6222)agfs		thyroglobulin							294.0	274.0	281.0					8																	133995617		2203	4300	6503	SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133995617delT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6222delT	8.37:g.133995617delT	ENSP00000220616:p.Ser2074fs					TG_ENST00000377869.1_Frame_Shift_Del_p.S2017fs|TG_ENST00000542445.1_Frame_Shift_Del_p.S444fs|TG_ENST00000519543.1_Intron|TG_ENST00000522523.1_3'UTR	p.S2074fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	35	6262	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2074					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.6222delT	CCDS34944.1																																																																																				0.398	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	1195						8	1195	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358																																						ENST00000259569.5																			1	Deletion - Frameshift(1)	p.N973fs*12(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2917-2919)atfs		RAN binding protein 6							109.0	102.0	104.0					9																	6012690		2203	4300	6503	SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012690delT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2918delA	9.37:g.6012690delT	ENSP00000259569:p.Asn973fs						p.N973fs	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2928	-		Acute lymphoblastic leukemia(23;0.158)	973					Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	37	c.2918delA	CCDS6467.1																																																																																				0.358	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		11	623						11	623	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32542262	32542262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:32542262delT	ENST00000360538.2	-	3	2377	c.2261delA	c.(2260-2262)aatfs	p.N755fs	TOPORS_ENST00000379858.1_Frame_Shift_Del_p.N690fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	755	Arg-rich.|Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACTGTGATTATTTTTTTTCCT	0.428																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2260-2262)atfs		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							112.0	117.0	115.0					9																	32542262		2203	4300	6503	SO:0001589	frameshift_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542262delT	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2261delA	9.37:g.32542262delT	ENSP00000353735:p.Asn755fs					TOPORS_ENST00000379858.1_Frame_Shift_Del_p.N690fs	p.N755fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2377	-			755			Arg-rich.|Interaction with TOP1.		O43273|Q6P987|Q9NS55|Q9UNR9	Frame_Shift_Del	DEL	ENST00000360538.2	37	c.2261delA	CCDS6527.1																																																																																				0.428	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		11	774						11	774	---	---	---	---
C9orf69	90120	broad.mit.edu	37	9	139008444	139008446	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:139008444_139008446delCAG	ENST00000418388.1	-	2	803_805	c.301_303delCTG	c.(301-303)ctgdel	p.L101del	C9orf69_ENST00000561457.1_In_Frame_Del_p.C125del			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	101					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCGGCGGCCCAGCAGCAGCAGC	0.685																																						ENST00000561457.1																			0				endometrium(1)	1						c.(373-378)tgg>tg		chromosome 9 open reading frame 69				105,3965		8,89,1938						5.1	1.0			23	180,7946		12,156,3895	no	coding	C9orf69	NM_152833.2		20,245,5833	A1A1,A1R,RR		2.2151,2.5799,2.3368				285,11911				SO:0001651	inframe_deletion	90120							g.chr9:139008444_139008446delCAG		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.301_303delCTG	9.37:g.139008453_139008455delCAG	ENSP00000453019:p.Leu101del					C9orf69_ENST00000418388.1_In_Frame_Del_p.L101del	p.CW125del	NM_152833.2	NP_690046.3				OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	2	825_827	-		Myeloproliferative disorder(178;0.0511)							In_Frame_Del	DEL	ENST00000418388.1	37	c.375_377delCTG	CCDS59155.1																																																																																				0.685	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		7	226						7	226	---	---	---	---
ARRDC1	92714	broad.mit.edu	37	9	140507340	140507354	+	Splice_Site	DEL	CTTTGCAGCCATCCG	CTTTGCAGCCATCCG	-	rs374081670|rs147183389	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr9:140507340_140507354delCTTTGCAGCCATCCG	ENST00000371421.4	+	2	182_189	c.118_125delCTTTGCAGCCATCCG	c.(118-126)ctttgcagc>c	p.LCS40del	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	40						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CAGCCATCCCCTTTGCAGCCATCCGGGTGACCTGC	0.633																																						ENST00000371421.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13						c.e2-1		arrestin domain containing 1																																				SO:0001630	splice_region_variant	92714							g.chr9:140507340_140507354delCTTTGCAGCCATCCG	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.119-1CTTTGCAGCCATCCG>-	9.37:g.140507340_140507354delCTTTGCAGCCATCCG						ARRDC1_ENST00000491911.1_3'UTR	p.40_splice	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	2	182_189	+	all_cancers(76;0.106)		40						Splice_Site	DEL	ENST00000371421.4	37	c.118_splice	CCDS7049.1																																																																																				0.633	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285	In_Frame_Del	34	111						34	111	---	---	---	---
C10orf82	143379	broad.mit.edu	37	10	118424338	118424338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr10:118424338delT	ENST00000369210.3	-	4	449	c.395delA	c.(394-396)aacfs	p.N132fs	C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	132										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CTTGTAGCAGTTTTTGGCCAT	0.567																																						ENST00000369210.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(394-396)acfs		chromosome 10 open reading frame 82							158.0	140.0	146.0					10																	118424338		2203	4300	6503	SO:0001589	frameshift_variant	143379							g.chr10:118424338delT	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.395delA	10.37:g.118424338delT	ENSP00000358212:p.Asn132fs					C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	4	449	-			132					B3KUM9|D3DRC3	Frame_Shift_Del	DEL	ENST00000369210.3	37	c.395delA	CCDS7596.1																																																																																				0.567	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		7	691						7	691	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:1016412_1016414delGAG	ENST00000421673.2	-	31	6437_6439	c.6387_6389delCTC	c.(6385-6390)tcctca>tca	p.2129_2130SS>S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2129	Ser-rich.|Thr-rich.			S -> F (in Ref. 6; BAC04860). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.S2130delS(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGAAAATGAGGAGGACAGCT	0.522																																						ENST00000421673.2																			1	Deletion - In frame(1)	p.S2130delS(1)	stomach(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6385-6390)tca>tc		mucin 6, oligomeric mucus/gel-forming				1,3949		0,1,1974						2.9	0.0			96	0,8040		0,0,4020	no	coding	MUC6	NM_005961.2		0,1,5994	A1A1,A1R,RR		0.0,0.0253,0.0083				1,11989				SO:0001651	inframe_deletion	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016412_1016414delGAG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6387_6389delCTC	11.37:g.1016415_1016417delGAG	ENSP00000406861:p.Ser2130del						p.SS2129del	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6437_6439	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2129	S -> F (in Ref. 6; BAC04860).		Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	ENST00000421673.2	37	c.6387_6389delCTC	CCDS44513.1																																																																																				0.522	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		57	152						57	152	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein				1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276276_14276277delGT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1627	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		7	350						7	350	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19256002	19256002	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:19256002delA	ENST00000527884.1	-	6	1065	c.833delT	c.(832-834)ttgfs	p.L278fs	E2F8_ENST00000250024.4_Frame_Shift_Del_p.L278fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	278					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGTTGACACCAAAAACAGCAT	0.383																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(832-834)tgfs		E2F transcription factor 8							157.0	156.0	156.0					11																	19256002		2199	4293	6492	SO:0001589	frameshift_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19256002delA		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.833delT	11.37:g.19256002delA	ENSP00000434199:p.Leu278fs					E2F8_ENST00000250024.4_Frame_Shift_Del_p.L278fs|RP11-428C19.4_ENST00000527978.1_RNA	p.L278fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			6	1065	-			278					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Frame_Shift_Del	DEL	ENST00000527884.1	37	c.833delT	CCDS7849.1																																																																																				0.383	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		7	996						7	996	---	---	---	---
ACCSL	390110	broad.mit.edu	37	11	44074959	44074959	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:44074959delA	ENST00000378832.1	+	8	1008	c.952delA	c.(952-954)aaafs	p.K319fs		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	319					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTCTTAGGGGAAAAAGGTCCG	0.438																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(952-954)aafs		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							102.0	95.0	97.0					11																	44074959		1831	4081	5912	SO:0001589	frameshift_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44074959delA		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.952delA	11.37:g.44074959delA	ENSP00000368109:p.Lys319fs						p.K319fs	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			8	1008	+			319						Frame_Shift_Del	DEL	ENST00000378832.1	37	c.952delA	CCDS41636.1																																																																																				0.438	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		7	612						7	612	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2334)gtggccfs	p.A778fs	ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.A756fs|ROBO3_ENST00000543966.1_5'Flank	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	778	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GGAGTGGCGGTGGCCTTGGGGG	0.604																																						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.(2329-2331)ggcfs		roundabout, axon guidance receptor, homolog 3 (Drosophila)																																				SO:0001589	frameshift_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124745490_124745491insG	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.2332dupG	11.37:g.124745492_124745492dupG	ENSP00000380903:p.Ala778fs					ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs	p.G777fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	15	2522_2523	+	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)	777			Fibronectin type-III 3.			Frame_Shift_Ins	INS	ENST00000397801.1	37	c.2330_2331insG	CCDS44755.1																																																																																				0.604	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		7	151						7	151	---	---	---	---
SENP1	29843	broad.mit.edu	37	12	48458896	48458896	+	Frame_Shift_Del	DEL	T	T	-	rs192825742	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:48458896delT	ENST00000004980.5	-	12	1705	c.1227delA	c.(1225-1227)aaafs	p.K409fs	SENP1_ENST00000551330.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000549595.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000448372.1_Frame_Shift_Del_p.K409fs			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	409					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.G410fs*3(1)|p.G410fs*4(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ATTTATGACCTTTTTTTTGTG	0.338																																						ENST00000004980.5																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.G410fs*3(1)|p.G410fs*4(1)	large_intestine(1)|pancreas(1)	large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(1225-1227)aafs		SUMO1/sentrin specific peptidase 1							122.0	116.0	118.0					12																	48458896		1835	4078	5913	SO:0001589	frameshift_variant	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48458896delT	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1227delA	12.37:g.48458896delT	ENSP00000004980:p.Lys409fs					SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000448372.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000551330.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000549595.1_Frame_Shift_Del_p.K409fs	p.K409fs			Q9P0U3	SENP1_HUMAN			12	1705	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	409					A8K7P5|Q86XC8	Frame_Shift_Del	DEL	ENST00000004980.5	37	c.1227delA	CCDS44868.2																																																																																				0.338	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		8	323						8	323	---	---	---	---
ASIC1	41	broad.mit.edu	37	12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:50452565_50452567delGAG	ENST00000447966.2	+	2	245_247	c.16_18delGAG	c.(16-18)gagdel	p.E9del	ASIC1_ENST00000228468.4_In_Frame_Del_p.E9del	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	9					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	ACTGAAGGCCGAGGAGGAGGAGG	0.616																																						ENST00000228468.4																			0											c.(16-18)del		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)																																			SO:0001651	inframe_deletion	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50452565_50452567delGAG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.16_18delGAG	12.37:g.50452574_50452576delGAG	ENSP00000400228:p.Glu9del					ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del	p.E9del	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			2	401_403	+			9					A3KN86|E5KBL7|P78349|Q96CV2	In_Frame_Del	DEL	ENST00000447966.2	37	c.16_18delGAG	CCDS44876.1																																																																																				0.616	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		7	498						7	498	---	---	---	---
GNS	2799	broad.mit.edu	37	12	65113810	65113810	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:65113810delA	ENST00000258145.3	-	13	1742	c.1572delT	c.(1570-1572)tttfs	p.F524fs	GNS_ENST00000542058.1_Frame_Shift_Del_p.F504fs|GNS_ENST00000418919.2_Frame_Shift_Del_p.F468fs|GNS_ENST00000543646.1_Frame_Shift_Del_p.F556fs	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	524					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACCCGGGGTCAAAAACCCCTG	0.443																																						ENST00000258145.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15						c.(1570-1572)ttfs		glucosamine (N-acetyl)-6-sulfatase							114.0	119.0	117.0					12																	65113810		2203	4300	6503	SO:0001589	frameshift_variant	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65113810delA		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1572delT	12.37:g.65113810delA	ENSP00000258145:p.Phe524fs					GNS_ENST00000418919.2_Frame_Shift_Del_p.F468fs|GNS_ENST00000543646.1_Frame_Shift_Del_p.F556fs|GNS_ENST00000542058.1_Frame_Shift_Del_p.F504fs	p.F524fs	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	13	1742	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		524					B4DYH8|Q53F05	Frame_Shift_Del	DEL	ENST00000258145.3	37	c.1572delT	CCDS8970.1																																																																																				0.443	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			7	584						7	584	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)agcdel	p.S45del	ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'Flank|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)del		zinc finger, C3H1-type containing				2,34,3866		0,0,2,4,26,1919						4.0	1.0			58	1,83,7932		0,0,1,9,65,3933	no	codingComplex	ZFC3H1	NM_144982.4		0,0,3,13,91,5852	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0479,0.9226,1.0069				3,117,11798				SO:0001651	inframe_deletion	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057256_72057258delGCT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133_135delAGC	12.37:g.72057265_72057267delGCT	ENSP00000368017:p.Ser45del		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del	p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491_493	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	In_Frame_Del	DEL	ENST00000378743.3	37	c.133_135delAGC	CCDS41813.1																																																																																				0.631	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		8	637						8	637	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88524078	88524079	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr12:88524078_88524079insT	ENST00000552810.1	-	9	978_979	c.635_636insA	c.(634-636)aacfs	p.N212fs	CEP290_ENST00000397838.3_5'Flank|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.N212fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	212					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAAGCTCATAGTTTTTTTTAGA	0.317																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(634-636)atafs		centrosomal protein 290kDa				0,3518		0,0,1759						2.2	1.0			194	1,7805		0,1,3902	no	frameshift	CEP290	NM_025114.3		0,1,5661	A1A1,A1R,RR		0.0128,0.0,0.0088				1,11323				SO:0001589	frameshift_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88524078_88524079insT	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.636dupA	12.37:g.88524086_88524086dupT	ENSP00000448012:p.Asn212fs					CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs	p.I212fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			9	978_979	-			212					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	ENST00000552810.1	37	c.635_636insA	CCDS55858.1																																																																																				0.317	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		8	1060						8	1060	---	---	---	---
HSPH1	10808	broad.mit.edu	37	13	31712945	31712946	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:31712945_31712946delGG	ENST00000320027.5	-	16	2524_2525	c.2180_2181delCC	c.(2179-2181)gccfs	p.A727fs	HSPH1_ENST00000380405.4_Frame_Shift_Del_p.A683fs|HSPH1_ENST00000380406.5_Frame_Shift_Del_p.A686fs|HSPH1_ENST00000429785.2_Frame_Shift_Del_p.A546fs|HSPH1_ENST00000445273.2_Frame_Shift_Del_p.A729fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	727					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTGCTATCTTGGCATAATGCTG	0.391																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2179-2181)gfs		heat shock 105kDa/110kDa protein 1																																				SO:0001589	frameshift_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31712945_31712946delGG	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2180_2181delCC	13.37:g.31712945_31712946delGG	ENSP00000318687:p.Ala727fs					HSPH1_ENST00000445273.2_Frame_Shift_Del_p.A729fs|HSPH1_ENST00000380405.4_Frame_Shift_Del_p.A683fs|HSPH1_ENST00000380406.5_Frame_Shift_Del_p.A686fs|HSPH1_ENST00000429785.2_Frame_Shift_Del_p.A546fs	p.A727fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	16	2524_2525	-		Lung SC(185;0.0257)	727					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Frame_Shift_Del	DEL	ENST00000320027.5	37	c.2180_2181delCC	CCDS9340.1																																																																																				0.391	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			7	1032						7	1032	---	---	---	---
TMCO3	55002	broad.mit.edu	37	13	114188422	114188423	+	Frame_Shift_Ins	INS	-	-	G	rs201723650		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr13:114188422_114188423insG	ENST00000434316.2	+	9	1765_1766	c.1406_1407insG	c.(1405-1410)gcggttfs	p.V470fs	TMCO3_ENST00000375391.1_Intron|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	470						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TCACTAGCGGCGGTTTTTCTTT	0.401																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(1405-1407)ggtfs		transmembrane and coiled-coil domains 3																																				SO:0001589	frameshift_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114188422_114188423insG	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1408dupG	13.37:g.114188424_114188424dupG	ENSP00000389399:p.Val470fs					TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Intron	p.G469fs	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		9	1765_1766	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	469					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Frame_Shift_Ins	INS	ENST00000434316.2	37	c.1406_1407insG	CCDS9537.1																																																																																				0.401	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		9	1161						9	1161	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.650	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	132						7	132	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S|FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		8	172						8	172	---	---	---	---
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aaafs	p.K11fs	FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(28-30)aafs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							77.0	87.0	84.0					15																	31196894		2202	4300	6502	SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196894delA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.28delA	15.37:g.31196894delA	ENSP00000354497:p.Lys11fs					FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs	p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	319	+			11					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.28delA	CCDS32186.1																																																																																				0.353	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		12	1000						12	1000	---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55651780	55651781	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:55651780_55651781delTA	ENST00000310958.6	-	8	2488_2489	c.2190_2191delTA	c.(2188-2193)tatagafs	p.YR730fs	CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs|CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	730					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AAGAAGTGTCTATATATATATT	0.332																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(2188-2193)tagafs		cell cycle progression 1																																				SO:0001589	frameshift_variant	9236				cell cycle	integral to membrane		g.chr15:55651780_55651781delTA	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.2190_2191delTA	15.37:g.55651788_55651789delTA	ENSP00000311656:p.Tyr730fs					CCPG1_ENST00000569205.1_Frame_Shift_Del_p.YR730fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.YR730fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Frame_Shift_Del_p.YR347fs	p.YR730fs	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2488_2489	-			730					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Frame_Shift_Del	DEL	ENST00000310958.6	37	c.2190_2191delTA	CCDS42039.1																																																																																				0.332	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		7	442						7	442	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-	rs369163190		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		7	497						7	497	---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22339834	22339834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:22339834delC	ENST00000299853.5	+	19	2037	c.1870delC	c.(1870-1872)cccfs	p.P625fs	POLR3E_ENST00000418581.2_Frame_Shift_Del_p.P589fs|POLR3E_ENST00000564209.1_Frame_Shift_Del_p.P625fs|POLR3E_ENST00000359210.4_Frame_Shift_Del_p.P625fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	625					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TGGTCAGTTTCCCCCCCAGAC	0.577																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1870-1872)ccfs		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							123.0	102.0	109.0					16																	22339834		2197	4300	6497	SO:0001589	frameshift_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22339834delC	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1870delC	16.37:g.22339834delC	ENSP00000299853:p.Pro625fs					POLR3E_ENST00000564209.1_Frame_Shift_Del_p.P625fs|POLR3E_ENST00000359210.4_Frame_Shift_Del_p.P625fs|POLR3E_ENST00000418581.2_Frame_Shift_Del_p.P589fs	p.P625fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	19	2037	+			625					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Frame_Shift_Del	DEL	ENST00000299853.5	37	c.1870delC	CCDS10605.1																																																																																				0.577	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		7	512						7	512	---	---	---	---
RP11-23E10.4	0	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358																																						ENST00000568520.1																			0																																																			0							g.chr16:33365420delA																													16.37:g.33365420delA														0	249	-									RNA	DEL	ENST00000568520.1	37																																																																																						0.358	RP11-23E10.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432134.1			7	94						7	94	---	---	---	---
KRT18P55	284085	broad.mit.edu	37	17	26633347	26633348	+	RNA	INS	-	-	G	rs35679432|rs6505076	byFrequency	TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:26633347_26633348insG	ENST00000577198.1	-	0	407					NR_028334.1				keratin 18 pseudogene 55																		ttgttgttgttttttttttttt	0.262													|||unknown(HR)	1257	0.250998	0.1861	0.3343	5008	,	,		18973	0.0665		0.4294	False		,,,				2504	0.2863					ENST00000577198.1																			0																																																			0							g.chr17:26633347_26633348insG			17q11.2	2013-06-25			ENSG00000265480	ENSG00000265480			26874	pseudogene	pseudogene							Standard	NR_028334		Approved		uc002has.3		OTTHUMG00000179422		17.37:g.26633347_26633348insG								NR_028334.1						0	407	-									RNA	INS	ENST00000577198.1	37																																																																																						0.262	KRT18P55-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446194.1	NR_028334		6	8						6	8	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56492904	56492908	+	Frame_Shift_Del	DEL	AGGGC	AGGGC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr17:56492904_56492908delAGGGC	ENST00000584437.1	-	1	1986_1990	c.31_35delGCCCT	c.(31-36)gccctcfs	p.AL11fs	RNF43_ENST00000580014.1_5'Flank|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.AL11fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	11					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGCCAGAGGGCAGCCAGCTGC	0.556																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(31-36)cfs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492904_56492908delAGGGC		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.31_35delGCCCT	17.37:g.56492904_56492908delAGGGC	ENSP00000463069:p.Ala11fs					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.AL11fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.AL11fs	p.AL11fs			Q68DV7	RNF43_HUMAN			1	1986_1990	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		11					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.31_35delGCCCT	CCDS11607.1																																																																																				0.556	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		42	134						42	134	---	---	---	---
SNORA48	652965	broad.mit.edu	37	18	7301055	7301056	+	RNA	INS	-	-	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr18:7301055_7301056insA	ENST00000391324.1	-	0	95_96									small nucleolar RNA, H/ACA box 48																		TGGGCACAGACAAAAGGCCAAG	0.475																																						ENST00000391324.1																			0																																																			0							g.chr18:7301055_7301056insA	AJ609447		17p13.1	2013-09-05			ENSG00000209582	ENSG00000209582		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32641	non-coding RNA	RNA, small nucleolar						15199136, 16381836	Standard	NR_002918		Approved	ACA48	uc002ghs.1				18.37:g.7301059_7301059dupA														0	95_96	-									RNA	INS	ENST00000391324.1	37																																																																																						0.475	SNORA48.9-201	NOVEL	basic	snoRNA	snoRNA		NR_002918		16	401						16	401	---	---	---	---
SAFB	6294	broad.mit.edu	37	19	5667115	5667115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:5667115delG	ENST00000292123.5	+	18	2500	c.2393delG	c.(2392-2394)tggfs	p.W798fs	SAFB_ENST00000592224.1_Frame_Shift_Del_p.W797fs|SAFB_ENST00000538656.1_Frame_Shift_Del_p.W640fs|SAFB_ENST00000454510.1_Frame_Shift_Del_p.W729fs|SAFB_ENST00000588852.1_Frame_Shift_Del_p.W798fs|SAFB_ENST00000433404.1_Frame_Shift_Del_p.W628fs	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	798	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGCGATGGCTGGGGGGGCTAT	0.642																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(2392-2394)tgfs		scaffold attachment factor B							33.0	39.0	37.0					19																	5667115		2200	4289	6489	SO:0001589	frameshift_variant	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5667115delG	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2393delG	19.37:g.5667115delG	ENSP00000292123:p.Trp798fs					SAFB_ENST00000592224.1_Frame_Shift_Del_p.W797fs|SAFB_ENST00000588852.1_Frame_Shift_Del_p.W798fs|SAFB_ENST00000538656.1_Frame_Shift_Del_p.W640fs|SAFB_ENST00000454510.1_Frame_Shift_Del_p.W729fs|SAFB_ENST00000433404.1_Frame_Shift_Del_p.W628fs	p.W798fs	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	18	2500	+			798			Arg-rich.|Gly-rich.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Frame_Shift_Del	DEL	ENST00000292123.5	37	c.2393delG	CCDS12142.1																																																																																				0.642	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			7	531						7	531	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		13	127						13	127	---	---	---	---
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(43-45)del		SERTA domain containing 1																																				SO:0001651	inframe_deletion	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409_40929411delCTC	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.43_45delGAG	19.37:g.40929418_40929420delCTC	ENSP00000350633:p.Glu15del						p.E15del	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	201_203	-			15					Q9BUE7	In_Frame_Del	DEL	ENST00000357949.4	37	c.43_45delGAG	CCDS12557.1																																																																																				0.557	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		8	291						8	291	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56465899	56465900	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:56465899_56465900insA	ENST00000291971.3	+	3	546_547	c.475_476insA	c.(475-477)gaafs	p.E159fs	NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.E159fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	159					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAATGTGATGGAAAAGTTTTTC	0.426																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(475-477)aaafs		NLR family, pyrin domain containing 8																																				SO:0001589	frameshift_variant	126205					cytoplasm	ATP binding	g.chr19:56465899_56465900insA	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.479dupA	19.37:g.56465903_56465903dupA	ENSP00000291971:p.Glu159fs					NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.K159fs	p.K159fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	546_547	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	159					Q7RTR4	Frame_Shift_Ins	INS	ENST00000291971.3	37	c.475_476insA	CCDS12937.1																																																																																				0.426	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		7	601						7	601	---	---	---	---
ZNF772	400720	broad.mit.edu	37	19	57985322	57985322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr19:57985322delT	ENST00000343280.4	-	5	1050	c.790delA	c.(790-792)aggfs	p.R264fs	AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Frame_Shift_Del_p.R223fs|ZNF772_ENST00000427512.2_Frame_Shift_Del_p.R152fs	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TTGTAATGCCTTTTTCCACAG	0.507																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(790-792)ggfs		zinc finger protein 772							96.0	88.0	90.0					19																	57985322		2203	4300	6503	SO:0001589	frameshift_variant	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985322delT	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.790delA	19.37:g.57985322delT	ENSP00000341165:p.Arg264fs					ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000427512.2_Frame_Shift_Del_p.R152fs|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Frame_Shift_Del_p.R223fs|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	p.R264fs	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	1050	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	264					A6NJK9|B4DH56|B4DYS0	Frame_Shift_Del	DEL	ENST00000343280.4	37	c.790delA	CCDS33133.1																																																																																				0.507	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		8	606						8	606	---	---	---	---
BPIFB3	359710	broad.mit.edu	37	20	31644477	31644477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:31644477delT	ENST00000375494.3	+	2	254	c.254delT	c.(253-255)gttfs	p.V85fs	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	85	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CACGGAGGGGTTTTTGGCGTT	0.587																																						ENST00000375494.3																			0											c.(253-255)gtfs		BPI fold containing family B, member 3							94.0	89.0	91.0					20																	31644477		2203	4300	6503	SO:0001589	frameshift_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31644477delT	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.254delT	20.37:g.31644477delT	ENSP00000364643:p.Val85fs						p.V85fs	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			2	254	+			85			Leu-rich.		Q5TDX7	Frame_Shift_Del	DEL	ENST00000375494.3	37	c.254delT	CCDS13212.1																																																																																				0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		7	376						7	376	---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:56227349delG	ENST00000341744.3	-	4	943	c.624delC	c.(622-624)cccfs	p.P208fs	PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	208					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGTTACTGCTGGGGGGGCAGG	0.682																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(622-624)ccfs		prostate transmembrane protein, androgen induced 1							28.0	33.0	31.0					20																	56227349		2203	4298	6501	SO:0001589	frameshift_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227349delG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.624delC	20.37:g.56227349delG	ENSP00000345826:p.Pro208fs					PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs	p.P208fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	943	-			208					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Del	DEL	ENST00000341744.3	37	c.624delC	CCDS13463.1																																																																																				0.682	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		76	227						76	227	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		16	84						16	84	---	---	---	---
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR|APP_ENST00000439274.2_In_Frame_Del_p.TT223del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		7	255						7	255	---	---	---	---
CCDC116	164592	broad.mit.edu	37	22	21990963	21990963	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chr22:21990963delA	ENST00000292779.3	+	5	1607	c.1446delA	c.(1444-1446)gtafs	p.V482fs		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	482										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TAAAGAAGGTAAAAGGCTCCC	0.597																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(1444-1446)gtfs		coiled-coil domain containing 116							78.0	70.0	73.0					22																	21990963		2203	4300	6503	SO:0001589	frameshift_variant	164592							g.chr22:21990963delA	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1446delA	22.37:g.21990963delA	ENSP00000292779:p.Val482fs						p.V482fs	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			5	1607	+	Colorectal(54;0.105)		482					Q8N9Y9	Frame_Shift_Del	DEL	ENST00000292779.3	37	c.1446delA	CCDS13791.1																																																																																				0.597	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		7	397						7	397	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						0							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		10	329						10	329	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99662505	99662505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:99662505delG	ENST00000373034.4	-	1	2766	c.1091delC	c.(1090-1092)ccgfs	p.P364fs	PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CACGTAGCCCGGGGGGGCGCT	0.607																																						ENST00000373034.4																			1	Deletion - Frameshift(1)	p.P364fs*4(1)	large_intestine(1)	breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1090-1092)cgfs		protocadherin 19							43.0	47.0	46.0					X																	99662505		2188	4265	6453	SO:0001589	frameshift_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662505delG	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1091delC	X.37:g.99662505delG	ENSP00000362125:p.Pro364fs					PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs	p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2766	-			364			Cadherin 4.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	ENST00000373034.4	37	c.1091delC	CCDS55462.1																																																																																				0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		7	203						7	203	---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131212553	131212553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2L-AAQA-01A-21D-A38G-08	TCGA-2L-AAQA-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33208690-91c9-4811-8043-6659815440e9	a7d7a9e6-4f0e-464f-83fe-8c93b30c1da8	g.chrX:131212553delA	ENST00000298542.4	-	12	1667	c.1492delT	c.(1492-1494)tatfs	p.Y498fs	FRMD7_ENST00000370879.1_Frame_Shift_Del_p.Y378fs|FRMD7_ENST00000464296.1_Frame_Shift_Del_p.Y483fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	498					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGTCCACATAAAAAAAGACC	0.502																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1492-1494)atfs		FERM domain containing 7							114.0	109.0	110.0					X																	131212553		2203	4300	6503	SO:0001589	frameshift_variant	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212553delA	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1492delT	X.37:g.131212553delA	ENSP00000298542:p.Tyr498fs					FRMD7_ENST00000370879.1_Frame_Shift_Del_p.Y378fs|FRMD7_ENST00000464296.1_Frame_Shift_Del_p.Y483fs	p.Y498fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1667	-	Acute lymphoblastic leukemia(192;0.000127)		498					C0LLJ3|Q5JX99	Frame_Shift_Del	DEL	ENST00000298542.4	37	c.1492delT	CCDS35397.1																																																																																				0.502	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		7	524						7	524	---	---	---	---
