#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
CASP1	834	broad.mit.edu	37	11	104904955	104904955	+	Missense_Mutation	SNP	C	C	T	rs2509649		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:104904955C>T	ENST00000533400.1	-	2	289	c.254G>A	c.(253-255)gGg>gAg	p.G85E	CASP1_ENST00000526568.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	85	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.G85E(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCCCAGCGTCCCTGCCAGGTA	0.468																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			2	Substitution - Missense(2)	p.G85E(2)	NS(1)|endometrium(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(253-255)gGg>gAg		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						185.0	166.0	172.0					11																	104904955		2202	4299	6501	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104904955C>T	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.254G>A	11.37:g.104904955C>T	ENSP00000433138:p.Gly85Glu					CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000531166.1_Intron	p.G85E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	2	289	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	85			CARD.		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.254G>A	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	0.205	-1.041669	0.02013	.	.	ENSG00000137752	ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	4.83	-8.48	0.00935	DEATH-like (2);Caspase Recruitment (3);	0.759254	0.12546	N	0.459494	T	0.05823	0.0152	N	0.05608	-0.01	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.0;0.001;0.001	T	0.38908	-0.9639	10	0.02654	T	1	.	8.2173	0.31519	0.0:0.3778:0.1052:0.517	rs2509649	85;46;85;85;69	B4DKN4;B4DVD8;P29466-2;P29466;G3V169	.;.;.;CASP1_HUMAN;.	E	69;85;85;85;85;46	ENSP00000432340:G69E;ENSP00000433138:G85E;ENSP00000410076:G85E;ENSP00000376844:G85E;ENSP00000434779:G85E;ENSP00000434259:G46E	ENSP00000376844:G85E	G	-	2	0	CASP1	104410165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.454000	0.06770	-1.188000	0.02705	-1.472000	0.01007	GGG		0.468	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		6	407	0	0	0	1	0	6	407				
TOB2	10766	broad.mit.edu	37	22	41832382	41832382	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:41832382A>G	ENST00000327492.3	-	2	1674	c.968T>C	c.(967-969)cTc>cCc	p.L323P		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	323					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L323P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTTGTAGCTGAGGCCTTCCAC	0.602																																						ENST00000327492.3																			1	Substitution - Missense(1)	p.L323P(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(967-969)cTc>cCc		transducer of ERBB2, 2							103.0	97.0	99.0					22																	41832382		2203	4300	6503	SO:0001583	missense	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41832382A>G	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.968T>C	22.37:g.41832382A>G	ENSP00000331305:p.Leu323Pro						p.L323P	NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN			2	1674	-			323					Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	c.968T>C	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965364	0.74131	.	.	ENSG00000183864	ENST00000327492	T	0.71341	-0.56	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000002	D	0.83069	0.5174	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84499	0.0615	10	0.66056	D	0.02	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	323	Q14106	TOB2_HUMAN	P	323	ENSP00000331305:L323P	ENSP00000331305:L323P	L	-	2	0	TOB2	40162328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.904000	0.92590	2.254000	0.74563	0.533000	0.62120	CTC		0.602	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		58	236	0	0	0	1	0	58	236				
RB1	5925	broad.mit.edu	37	13	48942661	48942661	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr13:48942661A>T	ENST00000267163.4	+	11	1187		c.e11-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATTGTTATTTAGTTTTGAAAC	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		22	Whole gene deletion(15)|Unknown(7)	p.0?(15)|p.?(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS942041	RB1	S		c.e11-1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						89.0	84.0	86.0					13																	48942661		2203	4297	6500	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48942661A>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1050-1A>T	13.37:g.48942661A>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)						NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	11	1187	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37		CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.127421	0.37533	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6242	0.68608	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47840662	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	3.937000	0.56575	2.281000	0.76405	0.533000	0.62120	.		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	4	104	0	0	0	1	0	4	104				
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A	rs201547693		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:14316410T>A	ENST00000256196.4	-	3	510		c.e3-2		RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000545643.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2						osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.e3-2		related RAS viral (r-ras) oncogene homolog 2							81.0	85.0	84.0					11																	14316410		2200	4294	6494	SO:0001630	splice_region_variant	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316410T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.197-2A>T	11.37:g.14316410T>A						RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site		NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	528	-								B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Splice_Site	SNP	ENST00000256196.4	37		CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814905	0.70912	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7521	0.69533	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRAS2	14272986	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.503000	0.81632	2.031000	0.59945	0.482000	0.46254	.		0.398	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250	Intron	9	180	0	0	0	1	0	9	180				
ZBTB49	166793	broad.mit.edu	37	4	4304683	4304683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:4304683G>T	ENST00000337872.4	+	3	1241	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.E374*	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	374					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TAGTGAGACGGAGAGGCCTGA	0.458																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1120-1122)Gag>Tag		zinc finger and BTB domain containing 49							45.0	49.0	48.0					4																	4304683		2203	4300	6503	SO:0001587	stop_gained	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4304683G>T	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1120G>T	4.37:g.4304683G>T	ENSP00000338807:p.Glu374*					ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.E374*|ZBTB49_ENST00000538529.1_5'UTR	p.E374*	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			3	1241	+			374					Q59FJ4|Q5EBN0|Q8TB80	Nonsense_Mutation	SNP	ENST00000337872.4	37	c.1120G>T	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	37	6.098995	0.97281	.	.	ENSG00000168826	ENST00000355834;ENST00000337872	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9098	0.70746	0.0:0.0:0.8568:0.1432	.	.	.	.	X	374	.	ENSP00000338807:E374X	E	+	1	0	ZBTB49	4355584	1.000000	0.71417	0.223000	0.23860	0.099000	0.18886	3.969000	0.56816	2.832000	0.97577	0.655000	0.94253	GAG		0.458	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		6	103	1	0	0.00198382	1	0.00209348	6	103				
ST18	9705	broad.mit.edu	37	8	53084356	53084356	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:53084356A>T	ENST00000276480.7	-	10	1748	c.1065T>A	c.(1063-1065)aaT>aaA	p.N355K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	355					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTTACGTTTATTGTTAAAGA	0.363																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1063-1065)aaT>aaA		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							111.0	107.0	108.0					8																	53084356		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084356A>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1065T>A	8.37:g.53084356A>T	ENSP00000276480:p.Asn355Lys						p.N355K	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			10	1748	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	355					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1065T>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.423584	0.43020	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.42900	0.99;0.96	5.72	-3.27	0.05048	.	0.552265	0.21965	N	0.066538	T	0.25121	0.0610	N	0.24115	0.695	0.33015	D	0.528025	B	0.33964	0.434	B	0.35413	0.202	T	0.23797	-1.0178	10	0.17832	T	0.49	-7.8588	13.8384	0.63424	0.1148:0.1185:0.7667:0.0	.	355	O60284	ST18_HUMAN	K	355	ENSP00000276480:N355K;ENSP00000428521:N355K	ENSP00000276480:N355K	N	-	3	2	ST18	53246909	1.000000	0.71417	0.050000	0.19076	0.764000	0.43329	0.934000	0.28910	-1.100000	0.03030	-0.290000	0.09829	AAT		0.363	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			5	236	0	0	0	1	0	5	236				
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T	rs560662752		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2404-2406)Taa>Aaa		PR domain containing 4							98.0	100.0	99.0					12																	108127989		2203	4300	6503	SO:0001578	stop_lost	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108127989A>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2404T>A	12.37:g.108127989A>T							p.*802K	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			12	2863	-			0					Q9UFA6	Nonstop_Mutation	SNP	ENST00000228437.5	37	c.2404T>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072663	0.93950	.	.	ENSG00000110851	ENST00000228437	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3011	0.66352	1.0:0.0:0.0:0.0	.	.	.	.	K	802	.	.	X	-	1	0	PRDM4	106652119	0.488000	0.25996	0.470000	0.27216	0.939000	0.58152	4.818000	0.62657	2.313000	0.78055	0.454000	0.30748	TAA		0.358	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		8	159	0	0	0	1	0	8	159				
ERCC6L2	375748	broad.mit.edu	37	9	98678671	98678671	+	Silent	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:98678671C>A	ENST00000288985.7	+	6	1451	c.1146C>A	c.(1144-1146)cgC>cgA	p.R382R	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.R193R	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	382					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TTCTCAGGCGCACCAAGACTC	0.428																																						ENST00000288985.7																			0											c.(1144-1146)cgC>cgA		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							63.0	67.0	66.0					9																	98678671		2203	4300	6503	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98678671C>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1146C>A	9.37:g.98678671C>A						ERCC6L2_ENST00000437817.1_Silent_p.R193R|ERCC6L2_ENST00000466840.1_3'UTR	p.R382R	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			6	1451	+			382					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000288985.7	37	c.1146C>A	CCDS35072.1																																																																																				0.428	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		17	194	1	0	8.00594e-06	1	8.84867e-06	17	194				
ZNF564	163050	broad.mit.edu	37	19	12637723	12637723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:12637723C>T	ENST00000339282.7	-	4	1395	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTCAAAGGCTCTACCACATAC	0.433																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1198-1200)aGa>aAa		zinc finger protein 564							140.0	144.0	143.0					19																	12637723		2203	4300	6503	SO:0001583	missense	163050							g.chr19:12637723C>T	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1199G>A	19.37:g.12637723C>T	ENSP00000340004:p.Arg400Lys					ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	p.R400K	NM_144976.3	NP_659413.1					4	1395	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.1199G>A	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	7.051	0.564517	0.13498	.	.	ENSG00000249709	ENST00000339282	T	0.07114	3.22	1.56	0.263	0.15602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	N	0.00605	-1.335	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46414	-0.9193	9	0.02654	T	1	.	5.0091	0.14302	0.0:0.2327:0.0:0.7673	.	400	Q8TBZ8	ZN564_HUMAN	K	400	ENSP00000340004:R400K	ENSP00000340004:R400K	R	-	2	0	ZNF564	12498723	0.565000	0.26610	0.010000	0.14722	0.890000	0.51754	0.515000	0.22801	0.050000	0.15949	0.643000	0.83706	AGA		0.433	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		4	211	0	0	0	1	0	4	211				
TAF1	6872	broad.mit.edu	37	X	70626490	70626490	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:70626490C>T	ENST00000373790.4	+	26	4049	c.3998C>T	c.(3997-3999)gCg>gTg	p.A1333V	TAF1_ENST00000423759.1_Missense_Mutation_p.A1354V|TAF1_ENST00000276072.3_Missense_Mutation_p.A1354V|TAF1_ENST00000449580.1_Missense_Mutation_p.A1333V	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1333					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATTTTAGTGCGGATGAGGTT	0.408																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3997-3999)gCg>gTg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							94.0	81.0	86.0					X																	70626490		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70626490C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3998C>T	X.37:g.70626490C>T	ENSP00000362895:p.Ala1333Val					TAF1_ENST00000373790.4_Missense_Mutation_p.A1333V|TAF1_ENST00000276072.3_Missense_Mutation_p.A1354V|TAF1_ENST00000423759.1_Missense_Mutation_p.A1354V	p.A1333V			P21675	TAF1_HUMAN			26	4049	+	Renal(35;0.156)	all_lung(315;0.000321)	1333					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3998C>T	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	25.7|25.7	4.660620|4.660620	0.88154|0.88154	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072|ENST00000483985	T;T;T;T|.	0.10005|.	2.92;3.0;2.98;2.92|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.046866|.	0.85682|.	D|.	0.000000|.	T|T	0.70422|0.70422	0.3222|0.3222	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	B;P;B|.	0.42692|.	0.013;0.787;0.018|.	B;B;B|.	0.29176|.	0.015;0.099;0.006|.	T|T	0.68903|0.68903	-0.5286|-0.5286	10|5	0.36615|.	T|.	0.2|.	.|.	17.4602|17.4602	0.87618|0.87618	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1333;1333;1354|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	V|W	1333;1333;1354;39;39;1354|244	ENSP00000362895:A1333V;ENSP00000389000:A1333V;ENSP00000406549:A1354V;ENSP00000276072:A1354V|.	ENSP00000276072:A1354V|.	A|R	+|+	2|1	0|2	TAF1|TAF1	70543215|70543215	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.909000|0.909000	0.53808|0.53808	7.176000|7.176000	0.77643|0.77643	2.307000|2.307000	0.77673|0.77673	0.464000|0.464000	0.42555|0.42555	GCG|CGG		0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		3	63	0	0	0	1	0	3	63				
SDK2	54549	broad.mit.edu	37	17	71380143	71380143	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:71380143G>T	ENST00000392650.3	-	33	4577	c.4577C>A	c.(4576-4578)gCa>gAa	p.A1526E	SDK2_ENST00000388726.3_Missense_Mutation_p.A1526E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1526	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTTGTCCTCTGCTGGCGGCTG	0.617																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4576-4578)gCa>gAa		sidekick cell adhesion molecule 2							59.0	50.0	53.0					17																	71380143		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71380143G>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4577C>A	17.37:g.71380143G>T	ENSP00000376421:p.Ala1526Glu					SDK2_ENST00000388726.3_Missense_Mutation_p.A1526E	p.A1526E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			33	4577	-			1526			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4577C>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	g	11.23	1.578828	0.28180	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.56275	0.47;0.47;0.47	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.551000	0.20305	N	0.094951	T	0.46328	0.1387	L	0.39514	1.22	0.24636	N	0.993591	B;B;B	0.18741	0.03;0.013;0.003	B;B;B	0.19666	0.015;0.026;0.009	T	0.24584	-1.0156	10	0.12766	T	0.61	.	19.2002	0.93708	0.0:0.0:1.0:0.0	.	1526;1526;1526	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	E	1150;1526;1526;702;1526	ENSP00000376421:A1526E;ENSP00000373378:A1526E;ENSP00000407098:A702E	ENSP00000324967:A1526E	A	-	2	0	SDK2	68891738	0.990000	0.36364	0.009000	0.14445	0.512000	0.34134	6.523000	0.73787	2.630000	0.89119	0.651000	0.88453	GCA		0.617	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		4	35	1	0	0.000602214	1	0.000638712	4	35				
TRIM38	10475	broad.mit.edu	37	6	25983850	25983850	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:25983850A>G	ENST00000357085.3	+	8	1809	c.1333A>G	c.(1333-1335)Act>Gct	p.T445A	TRIM38_ENST00000349458.3_Missense_Mutation_p.T445A|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	445	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CTTCTCTGATACTCTCCGGCC	0.463																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(1333-1335)Act>Gct		tripartite motif containing 38							70.0	70.0	70.0					6																	25983850		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25983850A>G	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1333A>G	6.37:g.25983850A>G	ENSP00000349596:p.Thr445Ala					TRIM38_ENST00000349458.3_Missense_Mutation_p.T445A	p.T445A	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			8	1809	+			445			B30.2/SPRY.		B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.1333A>G	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	6.986	0.552027	0.13374	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.60797	0.16;0.16;0.16	3.98	2.82	0.32997	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.269718	0.26847	N	0.022183	T	0.16385	0.0394	L	0.38175	1.15	0.09310	N	1	B;B	0.28419	0.211;0.211	B;B	0.25614	0.062;0.062	T	0.31613	-0.9937	10	0.02654	T	1	.	7.8819	0.29627	0.899:0.0:0.101:0.0	.	445;445	B2R862;O00635	.;TRI38_HUMAN	A	445	ENSP00000443976:T445A;ENSP00000230099:T445A;ENSP00000349596:T445A	ENSP00000230099:T445A	T	+	1	0	TRIM38	26091829	0.000000	0.05858	0.010000	0.14722	0.434000	0.31775	0.093000	0.15086	0.872000	0.35775	0.533000	0.62120	ACT		0.463	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			6	138	0	0	0	1	0	6	138				
SMU1	55234	broad.mit.edu	37	9	33057663	33057663	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:33057663A>G	ENST00000397149.3	-	7	850	c.800T>C	c.(799-801)gTc>gCc	p.V267A	SMU1_ENST00000536631.1_Missense_Mutation_p.V106A	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	267						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATGCAGAGGACAGCATCATC	0.418																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(799-801)gTc>gCc		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							164.0	150.0	155.0					9																	33057663		2203	4300	6503	SO:0001583	missense	55234					cytoplasm|nucleus		g.chr9:33057663A>G	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.800T>C	9.37:g.33057663A>G	ENSP00000380336:p.Val267Ala					SMU1_ENST00000536631.1_Missense_Mutation_p.V106A	p.V267A	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	7	850	-			267					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	37	c.800T>C	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743362	0.89663	.	.	ENSG00000122692	ENST00000397149;ENST00000536631	T;T	0.73789	-0.78;-0.78	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85301	0.5665	M	0.79475	2.455	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.68765	0.96;0.94;0.96	D	0.87048	0.2145	10	0.72032	D	0.01	-22.9648	14.0949	0.65013	1.0:0.0:0.0:0.0	.	267;106;267	A0MNN4;B4E3L0;Q2TAY7	.;.;SMU1_HUMAN	A	267;106	ENSP00000380336:V267A;ENSP00000443639:V106A	ENSP00000380336:V267A	V	-	2	0	SMU1	33047663	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.179000	0.94861	2.265000	0.75225	0.482000	0.46254	GTC		0.418	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		3	139	0	0	0	1	0	3	139				
PCLO	27445	broad.mit.edu	37	7	82583288	82583288	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:82583288C>A	ENST00000333891.9	-	5	7318	c.6981G>T	c.(6979-6981)gaG>gaT	p.E2327D	PCLO_ENST00000423517.2_Missense_Mutation_p.E2327D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E2327D(2)|p.E2258D(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCGTTCGGCCTCCAACTCCT	0.413																																						ENST00000423517.2																			3	Substitution - Missense(3)	p.E2327D(2)|p.E2258D(1)	kidney(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(6979-6981)gaG>gaT		piccolo presynaptic cytomatrix protein							125.0	128.0	127.0					7																	82583288		1852	4093	5945	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583288C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6981G>T	7.37:g.82583288C>A	ENSP00000334319:p.Glu2327Asp					PCLO_ENST00000333891.8_Missense_Mutation_p.E2327D	p.E2327D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	7318	-			2258			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.6981G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	1.795	-0.478503	0.04414	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16597	2.33;2.33	4.9	1.36	0.22044	.	.	.	.	.	T	0.12008	0.0292	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.31696	-0.9934	9	0.87932	D	0	.	3.1514	0.06489	0.4217:0.2428:0.0:0.3356	.	2327;2327	Q9Y6V0-5;Q9Y6V0-6	.;.	D	2258;2327;2327	ENSP00000334319:E2327D;ENSP00000388393:E2327D	ENSP00000334319:E2327D	E	-	3	2	PCLO	82421224	0.000000	0.05858	0.003000	0.11579	0.030000	0.12068	0.064000	0.14437	0.052000	0.16007	0.505000	0.49811	GAG		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		64	147	1	0	1.42676e-28	1	1.70239e-28	64	147				
CYP46A1	10858	broad.mit.edu	37	14	100166435	100166435	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:100166435G>A	ENST00000261835.3	+	5	544	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	147					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GCCTTCAGCCGGAGGTGAGTG	0.622																																						ENST00000261835.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(439-441)cGg>cAg		cytochrome P450, family 46, subfamily A, polypeptide 1							57.0	51.0	53.0					14																	100166435		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100166435G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.440G>A	14.37:g.100166435G>A	ENSP00000261835:p.Arg147Gln					CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50Q	p.R147Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN			5	544	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	147					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.440G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105996	0.94292	.	.	ENSG00000036530	ENST00000261835;ENST00000423126	T;T	0.68903	-0.36;-0.26	4.84	4.84	0.62591	.	0.051458	0.85682	D	0.000000	T	0.74756	0.3758	L	0.49126	1.545	0.41672	D	0.98924	D;D	0.71674	0.998;0.996	P;D	0.70716	0.906;0.97	T	0.70475	-0.4861	10	0.25106	T	0.35	.	14.1712	0.65510	0.0:0.0:1.0:0.0	.	147;118	Q9Y6A2;Q59ER2	CP46A_HUMAN;.	Q	147;50	ENSP00000261835:R147Q;ENSP00000405779:R50Q	ENSP00000261835:R147Q	R	+	2	0	CYP46A1	99236188	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	5.110000	0.64622	2.618000	0.88619	0.655000	0.94253	CGG		0.622	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			3	84	0	0	0	1	0	3	84				
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:219099073A>T	ENST00000295685.10	+	4	483		c.e4-1		ARPC2_ENST00000315717.5_Splice_Site	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTATTTTCTAGTTATTAAAG	0.363																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.e4-1		actin related protein 2/3 complex, subunit 2, 34kDa							101.0	105.0	103.0					2																	219099073		2203	4299	6502	SO:0001630	splice_region_variant	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219099073A>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.223-1A>T	2.37:g.219099073A>T						ARPC2_ENST00000315717.5_Splice_Site		NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	4	483	+		Renal(207;0.0474)						Q92801|Q9P1D4	Splice_Site	SNP	ENST00000295685.10	37		CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758264	0.69763	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1728	0.65522	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARPC2	218807318	1.000000	0.71417	0.985000	0.45067	0.833000	0.47200	7.690000	0.84178	2.281000	0.76405	0.533000	0.62120	.		0.363	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731	Intron	7	241	0	0	0	1	0	7	241				
OR4C13	283092	broad.mit.edu	37	11	49974717	49974717	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:49974717C>T	ENST00000555099.1	+	1	775	c.743C>T	c.(742-744)tCc>tTc	p.S248F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S248F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GTCATCTTATCCTTTATACCC	0.433																																						ENST00000555099.1																			1	Substitution - Missense(1)	p.S248F(1)	kidney(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(742-744)tCc>tTc		olfactory receptor, family 4, subfamily C, member 13							181.0	162.0	169.0					11																	49974717		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974717C>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.743C>T	11.37:g.49974717C>T	ENSP00000452277:p.Ser248Phe						p.S248F	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	775	+			248					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.743C>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.707587	0.00005	.	.	ENSG00000258817	ENST00000555099	T	0.00013	9.27	2.91	1.75	0.24633	GPCR, rhodopsin-like superfamily (1);	0.280860	0.25668	N	0.029100	T	0.00012	0.0000	N	0.00026	-2.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31024	-0.9958	9	.	.	.	.	6.498	0.22153	0.0:0.1284:0.0:0.8716	.	248	Q8NGP0	OR4CD_HUMAN	F	248	ENSP00000452277:S248F	.	S	+	2	0	OR4C13	49931293	0.003000	0.15002	0.011000	0.14972	0.006000	0.05464	0.439000	0.21575	0.333000	0.23563	-1.497000	0.00963	TCC		0.433	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		44	318	0	0	0	1	0	44	318				
TTN	7273	broad.mit.edu	37	2	179615716	179615716	+	Intron	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:179615716G>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T3804I|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTATTTCAGTCTGGAAAAT	0.348																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11410-11412)aCt>aTt		titin							116.0	126.0	123.0					2																	179615716		2198	4293	6491	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615716G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2134C>T	2.37:g.179615716G>A						TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	p.T3804I	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11633	-			9641					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11411C>T		.	.	.	.	.	.	.	.	.	.	G	14.74	2.626073	0.46840	.	.	ENSG00000155657	ENST00000360870	T	0.57907	0.37	5.33	3.46	0.39613	.	.	.	.	.	T	0.28962	0.0719	N	0.12182	0.205	0.09310	N	0.99999	B	0.10296	0.003	B	0.08055	0.003	T	0.09997	-1.0649	9	0.37606	T	0.19	.	2.1019	0.03682	0.1579:0.168:0.5004:0.1737	.	3804	Q8WZ42-6	.	I	3804	ENSP00000354117:T3804I	ENSP00000354117:T3804I	T	-	2	0	TTN	179323961	0.922000	0.31269	0.082000	0.20525	0.227000	0.25037	1.784000	0.38674	1.327000	0.45338	0.655000	0.94253	ACT		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	153	0	0	0	1	0	7	153				
NLGN1	22871	broad.mit.edu	37	3	173525588	173525588	+	Silent	SNP	C	C	T	rs148161018		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:173525588C>T	ENST00000457714.1	+	4	1041	c.612C>T	c.(610-612)atC>atT	p.I204I	NLGN1_ENST00000545397.1_Silent_p.I204I|NLGN1_ENST00000361589.4_Silent_p.I204I|NLGN1_ENST00000401917.3_Silent_p.I244I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	221					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.I204I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GCAATGTGATCGTCATCACAG	0.403																																						ENST00000457714.1																			1	Substitution - coding silent(1)	p.I204I(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(610-612)atC>atT		neuroligin 1		C		1,4405	2.1+/-5.4	0,1,2202	168.0	159.0	162.0		612	2.4	1.0	3	dbSNP_134	162	0,8600		0,0,4300	no	coding-synonymous	NLGN1	NM_014932.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		204/824	173525588	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173525588C>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.612C>T	3.37:g.173525588C>T						NLGN1_ENST00000401917.3_Silent_p.I244I|NLGN1_ENST00000361589.4_Silent_p.I204I|NLGN1_ENST00000545397.1_Silent_p.I204I	p.I204I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		4	1041	+	Ovarian(172;0.0025)		221					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.612C>T	CCDS3222.1																																																																																				0.403	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		18	60	0	0	0	1	0	18	60				
MCM8	84515	broad.mit.edu	37	20	5958578	5958578	+	Silent	SNP	C	C	T	rs113442872	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:5958578C>T	ENST00000378896.3	+	13	1829	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	MCM8_ENST00000378883.1_Silent_p.T437T|MCM8_ENST00000378886.2_Silent_p.T524T|MCM8_ENST00000265187.4_Silent_p.T468T	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	484	MCM.|Thr-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T484T(1)|p.T468T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CCACGACCACCTCTGGTCTGA	0.473																																						ENST00000378896.3																			2	Substitution - coding silent(2)	p.T484T(1)|p.T468T(1)	lung(2)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1450-1452)acC>acT		minichromosome maintenance complex component 8		C	,	4,4402	8.1+/-20.4	0,4,2199	112.0	94.0	100.0		1452,1404	-1.2	1.0	20	dbSNP_132	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MCM8	NM_032485.4,NM_182802.1	,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,	484/841,468/825	5958578	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5958578C>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1452C>T	20.37:g.5958578C>T						MCM8_ENST00000265187.4_Silent_p.T468T|MCM8_ENST00000378886.2_Silent_p.T524T|MCM8_ENST00000378883.1_Silent_p.T437T	p.T484T	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			13	1829	+			484			MCM.|Thr-rich.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	ENST00000378896.3	37	c.1452C>T	CCDS13094.1																																																																																				0.473	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		5	182	0	0	0	1	0	5	182				
SMARCAD1	56916	broad.mit.edu	37	4	95158101	95158101	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:95158101A>T	ENST00000354268.4	+	5	610		c.e5-1		SMARCAD1_ENST00000457823.2_Splice_Site			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCGTTCTGTTAGTTGATTGAA	0.323																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e5-1		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							125.0	116.0	119.0					4																	95158101		2203	4300	6503	SO:0001630	splice_region_variant	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95158101A>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.538-1A>T	4.37:g.95158101A>T						SMARCAD1_ENST00000457823.2_Splice_Site				Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	5	610	+								B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Splice_Site	SNP	ENST00000354268.4	37		CCDS3639.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917708	0.73098	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5008	0.50437	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCAD1	95377124	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	5.051000	0.64257	2.029000	0.59856	0.477000	0.44152	.		0.323	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	Intron	4	105	0	0	0	1	0	4	105				
MET	4233	broad.mit.edu	37	7	116380002	116380002	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:116380002A>T	ENST00000318493.6	+	4	1579		c.e4-1		MET_ENST00000436117.2_Splice_Site|MET_ENST00000397752.3_Splice_Site|MET_ENST00000495962.1_Splice_Site			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase						apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGCTGTTTAGGTTGTGGTT	0.388			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.e4-1		met proto-oncogene							230.0	204.0	212.0					7																	116380002		1846	4087	5933	SO:0001630	splice_region_variant	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116380002A>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1393-1A>T	7.37:g.116380002A>T						MET_ENST00000318493.6_Splice_Site|MET_ENST00000495962.1_Splice_Site|MET_ENST00000436117.2_Splice_Site		NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		4	1592	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)						A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Splice_Site	SNP	ENST00000318493.6	37		CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023456	0.35701	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3378	0.83071	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MET	116167238	1.000000	0.71417	0.997000	0.53966	0.178000	0.23041	7.107000	0.77047	2.255000	0.74692	0.533000	0.62120	.		0.388	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		Intron	6	282	0	0	0	1	0	6	282				
ZBTB49	166793	broad.mit.edu	37	4	4322531	4322531	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:4322531C>A	ENST00000337872.4	+	8	1907	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M	RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000538529.1_Missense_Mutation_p.L79M|ZBTB49_ENST00000355834.3_Missense_Mutation_p.L474M	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	596					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.L596M(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CCCAGATGTGCTGGAGGAGCT	0.557																																						ENST00000337872.4																			1	Substitution - Missense(1)	p.L596M(1)	kidney(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1786-1788)Ctg>Atg		zinc finger and BTB domain containing 49							62.0	57.0	58.0					4																	4322531		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322531C>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1786C>A	4.37:g.4322531C>A	ENSP00000338807:p.Leu596Met					ZBTB49_ENST00000355834.3_Missense_Mutation_p.L474M|ZBTB49_ENST00000538529.1_Missense_Mutation_p.L79M	p.L596M	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			8	1907	+			596					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1786C>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608249	0.46527	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.15017	2.46;2.8;3.11	4.57	3.71	0.42584	.	0.768893	0.10553	N	0.661237	T	0.37652	0.1011	M	0.65975	2.015	0.09310	N	1	D;P	0.58620	0.983;0.833	P;B	0.58873	0.847;0.336	T	0.21655	-1.0239	10	0.52906	T	0.07	.	14.7835	0.69784	0.0:0.8546:0.1454:0.0	.	474;596	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	M	474;596;79	ENSP00000348091:L474M;ENSP00000338807:L596M;ENSP00000445653:L79M	ENSP00000338807:L596M	L	+	1	2	ZBTB49	4373432	0.003000	0.15002	0.005000	0.12908	0.143000	0.21401	1.148000	0.31614	1.031000	0.39867	0.455000	0.32223	CTG		0.557	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		14	50	1	0	7.07596e-05	1	7.65954e-05	14	50				
CADM1	23705	broad.mit.edu	37	11	115085414	115085414	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:115085414A>T	ENST00000452722.3	-	7	928	c.908T>A	c.(907-909)cTa>cAa	p.L303Q	CADM1_ENST00000331581.6_Missense_Mutation_p.L303Q|CADM1_ENST00000536727.1_Missense_Mutation_p.L303Q|CADM1_ENST00000542447.2_Missense_Mutation_p.L303Q|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.L303Q	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGTTTTGTTTAGGTTATTGAT	0.468																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(907-909)cTa>cAa		cell adhesion molecule 1							258.0	223.0	235.0					11																	115085414		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115085414A>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.908T>A	11.37:g.115085414A>T	ENSP00000395359:p.Leu303Gln					CADM1_ENST00000452722.2_Missense_Mutation_p.L303Q|CADM1_ENST00000536727.1_Missense_Mutation_p.L303Q|CADM1_ENST00000537058.1_Missense_Mutation_p.L303Q|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.L303Q	p.L303Q	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	7	1036	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	303			Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000452722.3	37	c.908T>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448756	0.84101	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.85948	0.5816	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.998;0.999;0.999	D;P;D;D;D	0.87578	0.939;0.902;0.976;0.996;0.998	D	0.89471	0.3743	10	0.87932	D	0	.	15.8389	0.78824	1.0:0.0:0.0:0.0	.	303;303;304;303;303	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.;.;.;CADM1_HUMAN;.	Q	303;303;303;303;262;303	ENSP00000439176:L303Q;ENSP00000395359:L303Q;ENSP00000439817:L303Q;ENSP00000440322:L303Q;ENSP00000329797:L303Q	ENSP00000329797:L303Q	L	-	2	0	CADM1	114590624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.150000	0.67090	0.533000	0.62120	CTA		0.468	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		9	323	0	0	0	1	0	9	323				
SEMA6D	80031	broad.mit.edu	37	15	48053856	48053856	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:48053856A>T	ENST00000316364.5	+	7	886		c.e7-1		SEMA6D_ENST00000558014.1_Splice_Site|SEMA6D_ENST00000358066.4_Splice_Site|SEMA6D_ENST00000389425.3_Splice_Site|SEMA6D_ENST00000389428.3_Splice_Site|SEMA6D_ENST00000355997.3_Splice_Site|SEMA6D_ENST00000389432.2_Splice_Site|SEMA6D_ENST00000536845.2_Splice_Site|SEMA6D_ENST00000354744.4_Splice_Site|SEMA6D_ENST00000558816.1_Splice_Site|SEMA6D_ENST00000537942.1_Splice_Site|SEMA6D_ENST00000389433.2_Splice_Site	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTTCTTTTGTAGTTGAGTACC	0.373																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.e7-1		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							112.0	116.0	115.0					15																	48053856		2198	4297	6495	SO:0001630	splice_region_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48053856A>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.448-1A>T	15.37:g.48053856A>T						SEMA6D_ENST00000358066.4_Splice_Site|SEMA6D_ENST00000558816.1_Splice_Site|SEMA6D_ENST00000536845.2_Splice_Site|SEMA6D_ENST00000389433.2_Splice_Site|SEMA6D_ENST00000537942.1_Splice_Site|SEMA6D_ENST00000389432.2_Splice_Site|SEMA6D_ENST00000354744.4_Splice_Site|SEMA6D_ENST00000389428.3_Splice_Site|SEMA6D_ENST00000355997.3_Splice_Site|SEMA6D_ENST00000558014.1_Splice_Site|SEMA6D_ENST00000389425.3_Splice_Site		NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	7	886	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)						A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Splice_Site	SNP	ENST00000316364.5	37		CCDS32225.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.512234	0.64522	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9089	0.79456	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEMA6D	45841148	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.238000	0.73509	0.533000	0.62120	.		0.373	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	Intron	5	151	0	0	0	1	0	5	151				
ICE1	23379	broad.mit.edu	37	5	5462929	5462929	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:5462929T>G	ENST00000296564.7	+	13	3704	c.3482T>G	c.(3481-3483)aTa>aGa	p.I1161R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1161					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.I1161R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATTTTAACATAAGTACTTTT	0.428																																						ENST00000296564.7																			1	Substitution - Missense(1)	p.I1161R(1)	kidney(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(3481-3483)aTa>aGa		KIAA0947							82.0	76.0	78.0					5																	5462929		1868	4119	5987	SO:0001583	missense	23379							g.chr5:5462929T>G																												ENST00000296564.7:c.3482T>G	5.37:g.5462929T>G	ENSP00000296564:p.Ile1161Arg						p.I1161R	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	3704	+			1161					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.3482T>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.815305	0.90790	.	.	ENSG00000164151	ENST00000296564	T	0.12984	2.63	5.14	5.14	0.70334	.	.	.	.	.	T	0.21509	0.0518	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	D	0.64237	0.923	T	0.08576	-1.0715	9	0.66056	D	0.02	-3.0355	11.3412	0.49533	0.0:0.0:0.0:1.0	.	1161	Q9Y2F5	K0947_HUMAN	R	1161	ENSP00000296564:I1161R	ENSP00000296564:I1161R	I	+	2	0	KIAA0947	5515929	0.013000	0.17824	0.003000	0.11579	0.973000	0.67179	1.597000	0.36729	1.935000	0.56089	0.254000	0.18369	ATA		0.428	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			14	28	0	0	0	1	0	14	28				
KIAA1109	84162	broad.mit.edu	37	4	123161078	123161078	+	Missense_Mutation	SNP	C	C	T	rs75959726		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:123161078C>T	ENST00000264501.4	+	29	4614	c.4241C>T	c.(4240-4242)cCg>cTg	p.P1414L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1414L|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1414L			Q2LD37	K1109_HUMAN	KIAA1109	1414					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAACTTATCCGGGTAGAAAA	0.453																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(4240-4242)cCg>cTg		KIAA1109							51.0	47.0	48.0					4																	123161078		1855	4106	5961	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123161078C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4241C>T	4.37:g.123161078C>T	ENSP00000264501:p.Pro1414Leu					KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1414L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1414L|KIAA1109_ENST00000495260.1_3'UTR	p.P1414L			Q2LD37	K1109_HUMAN			29	4614	+			1414					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.4241C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655840	0.88056	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.36157	1.9;1.9;1.27	6.05	6.05	0.98169	.	0.000000	0.44483	U	0.000460	T	0.49098	0.1537	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.32025	-0.9922	10	0.32370	T	0.25	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	1413;1414	Q2LD37-2;Q2LD37	.;K1109_HUMAN	L	1414	ENSP00000264501:P1414L;ENSP00000373390:P1414L;ENSP00000389925:P1414L	ENSP00000264501:P1414L	P	+	2	0	KIAA1109	123380528	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	7.368000	0.79567	2.878000	0.98634	0.650000	0.86243	CCG		0.453	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		3	126	0	0	0	1	0	3	126				
RNF168	165918	broad.mit.edu	37	3	196210676	196210676	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:196210676A>T	ENST00000318037.3	-	4	1239	c.645T>A	c.(643-645)agT>agA	p.S215R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	215					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTTGTTCTTACTTTTCTTTT	0.363																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(643-645)agT>agA		ring finger protein 168, E3 ubiquitin protein ligase							223.0	213.0	216.0					3																	196210676		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196210676A>T	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.645T>A	3.37:g.196210676A>T	ENSP00000320898:p.Ser215Arg						p.S215R	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	4	1239	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		215					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.645T>A	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.459584	0.26248	.	.	ENSG00000163961	ENST00000318037	T	0.07114	3.22	6.06	3.66	0.41972	.	0.427326	0.21827	N	0.068526	T	0.08447	0.0210	M	0.63428	1.95	0.32275	N	0.568292	B	0.12630	0.006	B	0.10450	0.005	T	0.12967	-1.0527	10	0.15952	T	0.53	-2.4676	5.9656	0.19322	0.5946:0.3244:0.081:0.0	.	215	Q8IYW5	RN168_HUMAN	R	215	ENSP00000320898:S215R	ENSP00000320898:S215R	S	-	3	2	RNF168	197695073	0.999000	0.42202	0.979000	0.43373	0.962000	0.63368	0.819000	0.27308	1.071000	0.40834	0.533000	0.62120	AGT		0.363	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		4	126	0	0	0	1	0	4	126				
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	798					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTTCTTGGTTACTTGCTGAAT	0.458																																						ENST00000263805.4																			0											c.(2392-2394)gTa>gAa		zinc finger protein 106							198.0	191.0	194.0					15																	42742008		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742008A>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2393T>A	15.37:g.42742008A>T	ENSP00000263805:p.Val798Glu					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.V798E	NM_022473.1	NP_071918.1					2	2719	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2393T>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254848	0.80135	.	.	ENSG00000103994	ENST00000263805	T	0.57107	0.42	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.70500	0.3231	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.973	T	0.73408	-0.3992	10	0.87932	D	0	-17.0572	16.1811	0.81903	1.0:0.0:0.0:0.0	.	581;798	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	E	798	ENSP00000263805:V798E	ENSP00000263805:V798E	V	-	2	0	ZFP106	40529300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.159000	0.77483	2.218000	0.71995	0.528000	0.53228	GTA		0.458	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		8	355	0	0	0	1	0	8	355				
PKD1L2	114780	broad.mit.edu	37	16	81209300	81209300	+	RNA	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:81209300A>G	ENST00000527937.1	-	0	374				PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTCCTCTCCAAGTGGCAGAT	0.552																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2491-2493)ctT>ctC		polycystic kidney disease 1-like 2							101.0	101.0	101.0					16																	81209300		2050	4199	6249			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81209300A>G	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81209300A>G						PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000525539.1_RNA	p.L831L			Q7Z442	PK1L2_HUMAN			15	2492	-			831			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000527937.1	37	c.2493T>C		.	.	.	.	.	.	.	.	.	.	A	9.667	1.145626	0.21288	.	.	ENSG00000166473	ENST00000526632	.	.	.	4.82	3.73	0.42828	.	.	.	.	.	T	0.57799	0.2078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52313	-0.8592	4	.	.	.	-8.1523	8.0388	0.30508	0.9054:0.0:0.0946:0.0	.	.	.	.	R	359	.	.	W	-	1	0	PKD1L2	79766801	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.176000	0.42500	0.711000	0.32018	0.374000	0.22700	TGG		0.552	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			4	157	0	0	0	1	0	4	157				
TMEM74B	55321	broad.mit.edu	37	20	1164439	1164439	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:1164439G>C	ENST00000381894.3	-	1	678	c.7C>G	c.(7-9)Cca>Gca	p.P3A	TMEM74B_ENST00000481747.1_Intron	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	3						integral component of membrane (GO:0016021)											CCCTGTGCTGGTGGCATCACT	0.488																																						ENST00000381894.3																			0											c.(7-9)Cca>Gca		transmembrane protein 74B							134.0	122.0	126.0					20																	1164439		2203	4300	6503	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1164439G>C	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.7C>G	20.37:g.1164439G>C	ENSP00000371318:p.Pro3Ala					TMEM74B_ENST00000481747.1_Intron	p.P3A	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			1	678	-			3					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.7C>G	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	G	9.956	1.221608	0.22457	.	.	ENSG00000125895	ENST00000381894;ENST00000429036	T;T	0.45668	0.96;0.89	3.59	1.59	0.23543	.	.	.	.	.	T	0.27205	0.0667	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22626	-1.0211	9	0.19147	T	0.46	.	4.6728	0.12698	0.1285:0.2612:0.6104:0.0	.	3	Q9NUR3	CT046_HUMAN	A	3	ENSP00000371318:P3A;ENSP00000400552:P3A	ENSP00000371318:P3A	P	-	1	0	C20orf46	1112439	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.083000	0.11286	0.484000	0.27630	0.561000	0.74099	CCA		0.488	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		4	211	0	0	0	1	0	4	211				
SUSD2	56241	broad.mit.edu	37	22	24579183	24579183	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:24579183G>A	ENST00000358321.3	+	2	496	c.235G>A	c.(235-237)Gtg>Atg	p.V79M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	79					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.V79L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CAAGGACTTTGTGGTGCGGCA	0.637																																						ENST00000358321.3																			1	Substitution - Missense(1)	p.V79L(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(235-237)Gtg>Atg		sushi domain containing 2							61.0	58.0	59.0					22																	24579183		2203	4297	6500	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579183G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.235G>A	22.37:g.24579183G>A	ENSP00000351075:p.Val79Met						p.V79M	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			2	496	+			79					Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.235G>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093647	0.20471	.	.	ENSG00000099994	ENST00000358321	T	0.74002	-0.8	3.86	2.82	0.32997	.	0.584387	0.16770	N	0.200239	T	0.71264	0.3319	L	0.46157	1.445	0.21604	N	0.999623	P	0.48911	0.917	P	0.51487	0.671	T	0.59958	-0.7356	10	0.42905	T	0.14	-17.7666	5.613	0.17416	0.1089:0.2044:0.6867:0.0	.	79	Q9UGT4	SUSD2_HUMAN	M	79	ENSP00000351075:V79M	ENSP00000351075:V79M	V	+	1	0	SUSD2	22909183	0.006000	0.16342	0.124000	0.21820	0.616000	0.37450	-0.057000	0.11768	0.993000	0.38866	0.449000	0.29647	GTG		0.637	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		17	26	0	0	0	1	0	17	26				
COL16A1	1307	broad.mit.edu	37	1	32151357	32151357	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:32151357C>T	ENST00000373672.3	-	29	2415	c.1899G>A	c.(1897-1899)gaG>gaA	p.E633E	COL16A1_ENST00000373668.3_Silent_p.E633E|COL16A1_ENST00000271069.6_Silent_p.E632E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	633	Collagen-like 2.|Nonhelical region 7 (NC7).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGGCACGGCTCACAGGGCT	0.627																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(1897-1899)gaG>gaA		collagen, type XVI, alpha 1							95.0	103.0	100.0					1																	32151357		1933	4118	6051	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32151357C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1899G>A	1.37:g.32151357C>T						COL16A1_ENST00000373668.3_Silent_p.E633E|COL16A1_ENST00000271069.6_Silent_p.E632E	p.E633E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	29	2415	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	633			Nonhelical region 7 (NC7).		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.1899G>A	CCDS41297.1																																																																																				0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		3	98	0	0	0	1	0	3	98				
OR52B4	143496	broad.mit.edu	37	11	4388732	4388732	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:4388732C>T	ENST00000408920.2	-	1	884	c.794G>A	c.(793-795)aGg>aAg	p.R265K		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	265					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCGTCCAAACCTCTGGGTAAG	0.473																																						ENST00000408920.2																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31						c.(793-795)aGg>aAg		olfactory receptor, family 52, subfamily B, member 4							125.0	133.0	130.0					11																	4388732		2046	4191	6237	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4388732C>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.794G>A	11.37:g.4388732C>T	ENSP00000386160:p.Arg265Lys						p.R265K	NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	884	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	265					A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.794G>A	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892657	0.33442	.	.	ENSG00000221996	ENST00000408920	T	0.00091	8.74	5.27	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000122	T	0.00440	0.0014	H	0.95712	3.71	0.09310	N	1	P	0.42692	0.787	P	0.48921	0.595	T	0.04229	-1.0967	10	0.72032	D	0.01	.	10.0367	0.42133	0.0:0.8372:0.0:0.1628	.	265	Q8NGK2	O52B4_HUMAN	K	265	ENSP00000386160:R265K	ENSP00000386160:R265K	R	-	2	0	OR52B4	4345308	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.186000	0.09670	1.462000	0.47948	0.561000	0.74099	AGG		0.473	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		5	231	0	0	0	1	0	5	231				
CLSTN3	9746	broad.mit.edu	37	12	7288076	7288076	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:7288076G>T	ENST00000266546.6	+	4	987	c.537G>T	c.(535-537)caG>caT	p.Q179H	CLSTN3_ENST00000537408.1_Missense_Mutation_p.Q191H	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.Q179>?(1)|p.Q179H(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AGTACAGCCAGATCTGCTACT	0.582																																						ENST00000537408.1																			2	Substitution - Missense(1)|Complex(1)	p.Q179>?(1)|p.Q179H(1)	kidney(2)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(571-573)caG>caT		calsyntenin 3							197.0	150.0	166.0					12																	7288076		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7288076G>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.537G>T	12.37:g.7288076G>T	ENSP00000266546:p.Gln179His					CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q179H	p.Q191H			Q9BQT9	CSTN3_HUMAN			3	1111	+			179			Cadherin 2.		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.573G>T	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963795	0.74131	.	.	ENSG00000139182	ENST00000266546;ENST00000545663;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.02	4.11	0.48088	Cadherin (4);Cadherin-like (1);	0.114972	0.64402	D	0.000011	T	0.64023	0.2561	M	0.72353	2.195	0.58432	D	0.999997	D;D	0.89917	0.978;1.0	P;D	0.81914	0.694;0.995	T	0.65578	-0.6134	10	0.62326	D	0.03	-24.4543	10.355	0.43958	0.1514:0.0:0.8486:0.0	.	191;179	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	H	179;142;142;162;191	ENSP00000266546:Q179H;ENSP00000442612:Q142H;ENSP00000443490:Q142H;ENSP00000442801:Q162H;ENSP00000440679:Q191H	ENSP00000266546:Q179H	Q	+	3	2	CLSTN3	7179343	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.702000	0.61817	2.619000	0.88677	0.462000	0.41574	CAG		0.582	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		207	617	1	0	9.45852e-170	1	1.14155e-169	207	617				
REM1	28954	broad.mit.edu	37	20	30064381	30064381	+	Missense_Mutation	SNP	C	C	T	rs59730832	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:30064381C>T	ENST00000201979.2	+	2	426	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	45			R -> W (in dbSNP:rs59730832).		GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCAGCATCCCCGGCTGGGCCA	0.652													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16233	0.0		0.0	False		,,,				2504	0.0					ENST00000201979.2																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(133-135)Cgg>Tgg		RAS (RAD and GEM)-like GTP-binding 1		C	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	80.0	82.0	81.0		133	4.5	0.9	20	dbSNP_129	81	0,8600		0,0,4300	yes	missense	REM1	NM_014012.4	101	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	45/299	30064381	5,13001	2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064381C>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.133C>T	20.37:g.30064381C>T	ENSP00000201979:p.Arg45Trp					DEFB124_ENST00000481595.1_Intron	p.R45W	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	426	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		45		R -> W (in dbSNP:rs59730832).			E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.133C>T	CCDS13181.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.60	3.429321	0.62844	0.001135	0.0	ENSG00000088320	ENST00000201979	T	0.67345	-0.26	4.53	4.53	0.55603	.	0.481828	0.16460	N	0.213451	T	0.59088	0.2168	N	0.14661	0.345	0.39005	D	0.959421	D	0.56521	0.976	P	0.48738	0.588	T	0.68093	-0.5500	10	0.66056	D	0.02	.	16.0318	0.80582	0.0:1.0:0.0:0.0	rs59730832	45	O75628	REM1_HUMAN	W	45	ENSP00000201979:R45W	ENSP00000201979:R45W	R	+	1	2	REM1	29528042	0.985000	0.35326	0.881000	0.34555	0.244000	0.25665	4.028000	0.57246	2.339000	0.79563	0.563000	0.77884	CGG		0.652	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		19	60	0	0	0	1	0	19	60				
BPIFA2	140683	broad.mit.edu	37	20	31765995	31765995	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:31765995C>T	ENST00000253362.2	+	6	752	c.606C>T	c.(604-606)aaC>aaT	p.N202N	BPIFA2_ENST00000354932.5_Silent_p.N202N			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	202						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GCGTGATCAACACGCTGAAAA	0.522																																						ENST00000253362.2																			0											c.(604-606)aaC>aaT		BPI fold containing family A, member 2							71.0	57.0	62.0					20																	31765995		2203	4300	6503	SO:0001819	synonymous_variant	140683					extracellular region	lipid binding	g.chr20:31765995C>T	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.606C>T	20.37:g.31765995C>T						BPIFA2_ENST00000354932.5_Silent_p.N202N	p.N202N			Q96DR5	SPLC2_HUMAN			6	752	+			202					Q9BQQ0	Silent	SNP	ENST00000253362.2	37	c.606C>T	CCDS13214.1																																																																																				0.522	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		46	69	0	0	0	1	0	46	69				
PLA1A	51365	broad.mit.edu	37	3	119327728	119327728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:119327728C>A	ENST00000273371.4	+	3	459	c.387C>A	c.(385-387)taC>taA	p.Y129*	PLA1A_ENST00000495992.1_Nonsense_Mutation_p.Y129*|PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Nonsense_Mutation_p.Y113*	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	129					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGGAGTCTACTTCTCAGCTG	0.453																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(385-387)taC>taA		phospholipase A1 member A							164.0	160.0	161.0					3																	119327728		2203	4300	6503	SO:0001587	stop_gained	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119327728C>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.387C>A	3.37:g.119327728C>A	ENSP00000273371:p.Tyr129*					PLA1A_ENST00000495992.1_Nonsense_Mutation_p.Y129*|PLA1A_ENST00000494440.1_Nonsense_Mutation_p.Y113*|PLA1A_ENST00000488919.1_5'UTR	p.Y129*	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			3	459	+			129					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Nonsense_Mutation	SNP	ENST00000273371.4	37	c.387C>A	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109453	0.77096	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	.	.	.	5.17	1.95	0.26073	.	0.120619	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3317	5.0588	0.14546	0.0:0.4769:0.0:0.5231	.	.	.	.	X	129;129;113	.	ENSP00000273371:Y129X	Y	+	3	2	PLA1A	120810418	0.748000	0.28294	0.616000	0.29078	0.054000	0.15201	0.974000	0.29436	0.567000	0.29293	0.462000	0.41574	TAC		0.453	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			11	217	1	0	1.08611e-07	1	1.24635e-07	11	217				
CAPN3	825	broad.mit.edu	37	15	42703181	42703181	+	Missense_Mutation	SNP	G	G	T	rs80338804		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:42703181G>T	ENST00000397163.3	+	22	2582	c.2363G>T	c.(2362-2364)aGg>aTg	p.R788M	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Missense_Mutation_p.R123M|CAPN3_ENST00000356316.3_Missense_Mutation_p.R695M|CAPN3_ENST00000397200.4_Missense_Mutation_p.R276M|CAPN3_ENST00000318023.7_Missense_Mutation_p.R782M|CAPN3_ENST00000561817.1_Missense_Mutation_p.R123M|CAPN3_ENST00000357568.3_Missense_Mutation_p.R782M|CAPN3_ENST00000397204.4_Missense_Mutation_p.R123M|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000349748.3_Missense_Mutation_p.R696M|CAPN3_ENST00000569136.1_Missense_Mutation_p.R123M	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	788	Domain IV.|EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGCTTCGTTAGGCTGGAGGGC	0.517																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(2362-2364)aGg>aTg		calpain 3, (p94)							181.0	146.0	158.0					15																	42703181		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42703181G>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2363G>T	15.37:g.42703181G>T	ENSP00000380349:p.Arg788Met					CAPN3_ENST00000569136.1_Missense_Mutation_p.R123M|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000318023.7_Missense_Mutation_p.R782M|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.R276M|CAPN3_ENST00000397204.4_Missense_Mutation_p.R123M|CAPN3_ENST00000357568.3_Missense_Mutation_p.R782M|CAPN3_ENST00000356316.3_Missense_Mutation_p.R695M|CAPN3_ENST00000349748.3_Missense_Mutation_p.R696M|CAPN3_ENST00000337571.4_Missense_Mutation_p.R123M|CAPN3_ENST00000561817.1_Missense_Mutation_p.R123M	p.R788M	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	22	2582	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	788			Domain IV.|EF-hand 4.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.2363G>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071062	0.93950	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	D;D;D;D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-3.6	5.4	5.4	0.78164	EF-hand-like domain (1);	0.000000	0.85682	U	0.000000	D	0.97763	0.9266	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;0.999;0.999	D	0.98177	1.0455	10	0.87932	D	0	.	19.3595	0.94431	0.0:0.0:1.0:0.0	.	653;701;123;696;782;788;695	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	M	695;276;788;782;696;782;276;123;123	ENSP00000348667:R695M;ENSP00000380349:R788M;ENSP00000350181:R782M;ENSP00000183936:R696M;ENSP00000326281:R782M;ENSP00000380384:R276M;ENSP00000336840:R123M;ENSP00000380387:R123M	ENSP00000326281:R782M	R	+	2	0	CAPN3	40490473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.598000	0.74122	2.818000	0.97014	0.655000	0.94253	AGG		0.517	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			65	111	1	0	2.3778e-47	1	2.85336e-47	65	111				
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site	NM_017841.2	NP_060311.1			succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403																																						ENST00000301761.2																			0				large_intestine(3)|lung(4)|ovary(2)	9						c.e3-1		succinate dehydrogenase complex assembly factor 2							96.0	93.0	94.0					11																	61205474		2202	4299	6501	SO:0001630	splice_region_variant	54949				mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	g.chr11:61205474A>T	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000301761.2:c.261-1A>T	11.37:g.61205474A>T						SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site		NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN			3	334	+									Splice_Site	SNP	ENST00000301761.2	37		CCDS8007.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500876	0.64298	.	.	ENSG00000256591;ENSG00000167985	ENST00000541135;ENST00000301761	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDHAF2;RP11-286N22.8	60962050	1.000000	0.71417	0.977000	0.42913	0.540000	0.34992	8.106000	0.89555	2.254000	0.74563	0.533000	0.62120	.		0.403	SDHAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398438.1	NM_017841	Intron	7	343	0	0	0	1	0	7	343				
CSMD1	64478	broad.mit.edu	37	8	3205592	3205592	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:3205592A>T	ENST00000520002.1	-	23	3954	c.3399T>A	c.(3397-3399)taT>taA	p.Y1133*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y1133*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1133	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTCTATTTTATAGATACACT	0.383																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(3397-3399)taT>taA		CUB and Sushi multiple domains 1							68.0	62.0	64.0					8																	3205592		1807	4066	5873	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:3205592A>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3399T>A	8.37:g.3205592A>T	ENSP00000430733:p.Tyr1133*					CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y1133*	p.Y1133*			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	23	3954	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1133			CUB 7.		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.3399T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	43|43	9.878804|9.878804	0.99286|0.99286	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|.	.|.	.|.	5.64|5.64	3.28|3.28	0.37604|0.37604	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.02654	.|T	.|1	.|.	8.2614|8.2614	0.31788|0.31788	0.785:0.0:0.215:0.0|0.785:0.0:0.215:0.0	.|.	.|.	.|.	.|.	K|X	613|1133;1133;995;1132;1132;1132	.|.	.|ENSP00000320445:Y995X	X|Y	-|-	1|3	0|2	CSMD1|CSMD1	3192999|3192999	1.000000|1.000000	0.71417|0.71417	0.771000|0.771000	0.31576|0.31576	0.088000|0.088000	0.18126|0.18126	3.713000|3.713000	0.54882|0.54882	0.427000|0.427000	0.26145|0.26145	0.528000|0.528000	0.53228|0.53228	TAA|TAT		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	44	0	0	0	1	0	4	44				
KCNK18	338567	broad.mit.edu	37	10	118969176	118969176	+	Missense_Mutation	SNP	G	G	A	rs139101102		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:118969176G>A	ENST00000334549.1	+	3	521	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	174					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.R174H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTCTTTACCCGCCCCCTCCTC	0.507																																						ENST00000334549.1																			2	Substitution - Missense(2)	p.R174H(2)	large_intestine(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(520-522)cGc>cAc		potassium channel, subfamily K, member 18		G	HIS/ARG	0,4406		0,0,2203	85.0	89.0	88.0		521	-3.3	0.0	10	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNK18	NM_181840.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	174/385	118969176	1,13005	2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118969176G>A	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.521G>A	10.37:g.118969176G>A	ENSP00000334650:p.Arg174His						p.R174H	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	521	+		Colorectal(252;0.19)	174					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.521G>A	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	9.837	1.189940	0.21954	0.0	1.16E-4	ENSG00000186795	ENST00000334549	T	0.26223	1.75	4.41	-3.26	0.05064	.	1.118960	0.06526	N	0.740624	T	0.08935	0.0221	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22941	-1.0202	10	0.40728	T	0.16	.	1.0346	0.01545	0.2564:0.3024:0.2513:0.1898	.	174	Q7Z418	KCNKI_HUMAN	H	174	ENSP00000334650:R174H	ENSP00000334650:R174H	R	+	2	0	KCNK18	118959166	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.919000	0.04017	-0.759000	0.04684	-0.345000	0.07892	CGC		0.507	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		21	83	0	0	0	1	0	21	83				
ANLN	54443	broad.mit.edu	37	7	36450762	36450762	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:36450762T>A	ENST00000265748.2	+	7	1603	c.1382T>A	c.(1381-1383)cTa>cAa	p.L461Q	ANLN_ENST00000396068.2_Missense_Mutation_p.L461Q|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	461	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCAAACAACTAGAAACCAAA	0.363																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(1381-1383)cTa>cAa		anillin, actin binding protein							87.0	79.0	82.0					7																	36450762		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36450762T>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1382T>A	7.37:g.36450762T>A	ENSP00000265748:p.Leu461Gln					ANLN_ENST00000396068.2_Missense_Mutation_p.L461Q|ANLN_ENST00000495714.1_3'UTR	p.L461Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			7	1603	+			461			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1382T>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.688378	0.29962	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.12361	2.7;2.69	5.15	-9.11	0.00711	.	0.969776	0.08483	N	0.939223	T	0.10337	0.0253	L	0.60455	1.87	0.09310	N	0.999997	B;B;B;B	0.14805	0.011;0.005;0.008;0.005	B;B;B;B	0.12837	0.003;0.004;0.008;0.004	T	0.33266	-0.9875	10	0.13853	T	0.58	0.4436	9.6519	0.39904	0.2106:0.6454:0.0:0.144	.	338;461;461;461	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	Q	461	ENSP00000265748:L461Q;ENSP00000379380:L461Q	ENSP00000265748:L461Q	L	+	2	0	ANLN	36417287	0.003000	0.15002	0.001000	0.08648	0.856000	0.48823	-0.284000	0.08422	-1.848000	0.01172	-1.151000	0.01829	CTA		0.363	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		5	124	0	0	0	1	0	5	124				
GK	2710	broad.mit.edu	37	X	30714802	30714802	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:30714802T>A	ENST00000378943.3	+	8	908		c.e8+2		GK_ENST00000378946.3_Splice_Site|GK_ENST00000427190.1_Splice_Site|GK_ENST00000378945.3_Splice_Site|RP11-242C19.2_ENST00000497961.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase						cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						GGCCTAATGGTAAAaaacaaa	0.274																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.e8+2		glycerol kinase							40.0	41.0	40.0					X																	30714802		2199	4293	6492	SO:0001630	splice_region_variant	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30714802T>A	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.729+2T>A	X.37:g.30714802T>A						GK_ENST00000378946.3_Splice_Site|GK_ENST00000427190.1_Splice_Site|GK_ENST00000378945.3_Splice_Site		NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			8	908	+								A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Splice_Site	SNP	ENST00000378943.3	37		CCDS48090.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971685	0.74246	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2602	0.66080	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GK	30624723	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.582000	0.67477	1.894000	0.54839	0.412000	0.27726	.		0.274	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167	Intron	3	37	0	0	0	1	0	3	37				
TXNDC15	79770	broad.mit.edu	37	5	134235291	134235291	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:134235291A>T	ENST00000358387.4	+	5	1624	c.999A>T	c.(997-999)ttA>ttT	p.L333F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.L310F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	333					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATTCTTTTTAATTAGTTTTA	0.403																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(997-999)ttA>ttT		thioredoxin domain containing 15							121.0	120.0	120.0					5																	134235291		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134235291A>T	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.999A>T	5.37:g.134235291A>T	ENSP00000351157:p.Leu333Phe					TXNDC15_ENST00000546290.1_Missense_Mutation_p.L310F	p.L333F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1624	+			333					D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.999A>T	CCDS4180.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.93|18.93|18.93	3.727882|3.727882|3.727882	0.69074|0.69074|0.69074	.|.|.	.|.|.	ENSG00000113621|ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000546290|ENST00000509954|ENST00000508779	T;T|.|.	0.54675|.|.	0.56;0.57|.|.	5.66|5.66|5.66	4.5|4.5|4.5	0.54988|0.54988|0.54988	.|.|.	0.225948|.|.	0.38663|.|.	N|.|.	0.001619|.|.	T|T|.	0.36386|0.36386|.	0.0965|0.0965|.	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.44834|0.44834|0.44834	D|D|D	0.997845|0.997845|0.997845	D|.|.	0.69078|.|.	0.997|.|.	D|.|.	0.63597|.|.	0.916|.|.	T|T|.	0.25328|0.25328|.	-1.0135|-1.0135|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-10.2423|-10.2423|-10.2423	0.9466|0.9466|0.9466	0.01367|0.01367|0.01367	0.5017:0.1605:0.1837:0.1541|0.5017:0.1605:0.1837:0.1541|0.5017:0.1605:0.1837:0.1541	.|.|.	333|.|.	Q96J42|.|.	TXD15_HUMAN|.|.	F|Y|L	317;333;310|88|317	ENSP00000351157:L333F;ENSP00000443942:L310F|.|.	ENSP00000351157:L333F|.|.	L|N|X	+|+|+	3|1|2	2|0|2	TXNDC15|TXNDC15|TXNDC15	134263190|134263190|134263190	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	2.129000|2.129000|2.129000	0.42055|0.42055|0.42055	0.966000|0.966000|0.966000	0.38159|0.38159|0.38159	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	TTA|AAT|TAA		0.403	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		4	121	0	0	0	1	0	4	121				
UBL7	84993	broad.mit.edu	37	15	74741614	74741614	+	Silent	SNP	C	C	T	rs143556298		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:74741614C>T	ENST00000567435.1	-	9	1258	c.795G>A	c.(793-795)cgG>cgA	p.R265R	UBL7_ENST00000564488.1_Silent_p.R265R|UBL7_ENST00000395081.2_Silent_p.R265R|UBL7_ENST00000361351.4_Silent_p.R265R|UBL7_ENST00000565335.1_Silent_p.R265R			Q96S82	UBL7_HUMAN	ubiquitin-like 7	265										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GGGTGATGGGCCGGGGCCCAG	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16705	0.0		0.0	False		,,,				2504	0.0					ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(793-795)cgG>cgA		ubiquitin-like 7 (bone marrow stromal cell-derived)		C	,	14,4380	22.3+/-47.3	0,14,2183	37.0	40.0	39.0		795,795	0.2	1.0	15	dbSNP_134	39	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	UBL7	NM_032907.3,NM_201265.1	,	0,14,6479	TT,TC,CC		0.0,0.3186,0.1078	,	265/381,265/381	74741614	14,12972	2197	4296	6493	SO:0001819	synonymous_variant	84993						protein binding	g.chr15:74741614C>T	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.795G>A	15.37:g.74741614C>T						UBL7_ENST00000361351.4_Silent_p.R265R|UBL7_ENST00000565335.1_Silent_p.R265R|UBL7_ENST00000395081.2_Silent_p.R265R|UBL7_ENST00000564488.1_Silent_p.R265R	p.R265R			Q96S82	UBL7_HUMAN			9	1258	-			265					D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	c.795G>A	CCDS10263.1																																																																																				0.647	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		17	59	0	0	0	1	0	17	59				
PCDHGA10	56106	broad.mit.edu	37	5	140794345	140794345	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:140794345C>A	ENST00000398610.2	+	1	1603	c.1603C>A	c.(1603-1605)Cag>Aag	p.Q535K	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	535	Cadherin 5. {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)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACAGATGCAGGTGACAGC	0.542																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1603-1605)Cag>Aag									179.0	195.0	190.0					5																	140794345		2203	4300	6503	SO:0001583	missense	56106							g.chr5:140794345C>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1603C>A	5.37:g.140794345C>A	ENSP00000381611:p.Gln535Lys					PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.Q535K	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1603	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1603C>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.964075	0.00461	.	.	ENSG00000253846	ENST00000398610	T	0.51574	0.7	5.67	2.82	0.32997	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.25680	0.0625	N	0.17838	0.53	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.15052	0.012;0.008	T	0.26538	-1.0100	9	0.11794	T	0.64	.	3.0157	0.06059	0.2424:0.4958:0.1179:0.1438	.	535;535	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	K	535	ENSP00000381611:Q535K	ENSP00000381611:Q535K	Q	+	1	0	PCDHGA10	140774529	0.000000	0.05858	0.010000	0.14722	0.489000	0.33432	0.053000	0.14184	0.287000	0.22375	0.655000	0.94253	CAG		0.542	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		5	162	1	0	0.184627	1	0.186403	5	162				
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:100349878C>T	ENST00000348028.3	+	0	2315				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P717L(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507																																						ENST00000542585.1																			2	Substitution - Missense(2)	p.P717L(2)	lung(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							164.0	184.0	178.0					7																	100349878		1828	4078	5906			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349878C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349878C>T						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2298	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	9.939	1.216877	0.22373	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63096	-0.02;-0.02;-0.02	3.75	1.86	0.25419	.	.	.	.	.	T	0.52273	0.1724	L	0.52573	1.65	0.20074	N	0.999932	B;B	0.21606	0.058;0.035	B;B	0.16289	0.015;0.007	T	0.49331	-0.8951	9	0.87932	D	0	.	6.3325	0.21279	0.1829:0.7123:0.0:0.1048	.	717;717	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	717	ENSP00000445943:P717L;ENSP00000445091:P717L;ENSP00000444427:P717L	ENSP00000423579:P717L	P	+	2	0	ZAN	100187814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.225000	0.02956	0.315000	0.23110	0.555000	0.69702	CCC		0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	6	0	0	0	1	0	2	6				
WDR62	284403	broad.mit.edu	37	19	36592993	36592993	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:36592993C>T	ENST00000270301.7	+	26	3160	c.3160C>T	c.(3160-3162)Ccg>Tcg	p.P1054S	WDR62_ENST00000401500.2_Missense_Mutation_p.P1054S			O43379	WDR62_HUMAN	WD repeat domain 62	1054					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCCCAGACTCCGGAGCAGGA	0.652																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(3160-3162)Ccg>Tcg		WD repeat domain 62							84.0	86.0	86.0					19																	36592993		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36592993C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3160C>T	19.37:g.36592993C>T	ENSP00000270301:p.Pro1054Ser					WDR62_ENST00000270301.7_Missense_Mutation_p.P1054S	p.P1054S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		26	3195	+	Esophageal squamous(110;0.162)		1054					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.3160C>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.657924	0.67586	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.59224	0.36;0.28	4.72	3.68	0.42216	.	0.306471	0.28203	N	0.016209	T	0.72724	0.3496	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.73962	-0.3817	10	0.56958	D	0.05	-15.9968	9.1209	0.36786	0.0:0.9:0.0:0.1	.	1054;1054	O43379-4;O43379	.;WDR62_HUMAN	S	1054	ENSP00000384792:P1054S;ENSP00000270301:P1054S	ENSP00000270301:P1054S	P	+	1	0	WDR62	41284833	0.966000	0.33281	0.797000	0.32132	0.914000	0.54420	3.880000	0.56145	1.352000	0.45808	0.655000	0.94253	CCG		0.652	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		8	96	0	0	0	1	0	8	96				
PANX1	24145	broad.mit.edu	37	11	93912962	93912962	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:93912962G>A	ENST00000227638.3	+	4	1125	c.740G>A	c.(739-741)aGc>aAc	p.S247N	PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	247					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TTTGTGTGCAGCATCAAATCA	0.493																																						ENST00000227638.3																			0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(739-741)aGc>aAc		pannexin 1							184.0	160.0	168.0					11																	93912962		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93912962G>A	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.740G>A	11.37:g.93912962G>A	ENSP00000227638:p.Ser247Asn					PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN			4	1125	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	247					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.740G>A	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914143	0.17907	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.18174	2.23;2.23	5.95	4.09	0.47781	.	0.306737	0.45606	N	0.000347	T	0.12646	0.0307	L	0.47016	1.485	0.31010	N	0.719366	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.18967	-1.0320	10	0.17832	T	0.49	-17.2145	5.2943	0.15745	0.2869:0.1384:0.5747:0.0	.	247;247	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	N	247	ENSP00000227638:S247N;ENSP00000411461:S247N	ENSP00000227638:S247N	S	+	2	0	PANX1	93552610	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.145000	0.31577	0.858000	0.35431	0.655000	0.94253	AGC		0.493	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		4	261	0	0	0	1	0	4	261				
SFI1	9814	broad.mit.edu	37	22	31904239	31904239	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:31904239A>T	ENST00000400288.2	+	2	75		c.e2-1		SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Splice_Site|SFI1_ENST00000414585.1_Splice_Site|SFI1_ENST00000540643.1_Splice_Site|SFI1_ENST00000432498.1_Splice_Site|SFI1_ENST00000443326.1_Splice_Site	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TTTTTCTTGTAGTTAGAAGGG	0.378																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.e2-1		Sfi1 homolog, spindle assembly associated (yeast)							50.0	46.0	47.0					22																	31904239		1813	4083	5896	SO:0001630	splice_region_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31904239A>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.-30-1A>T	22.37:g.31904239A>T						SFI1_ENST00000400288.2_Splice_Site|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000414585.1_Splice_Site|SFI1_ENST00000443011.1_Splice_Site|SFI1_ENST00000443326.1_Splice_Site|SFI1_ENST00000540643.1_Splice_Site		NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			2	363	+								A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Splice_Site	SNP	ENST00000400288.2	37		CCDS43004.1																																																																																				0.378	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	Intron	4	80	0	0	0	1	0	4	80				
BTAF1	9044	broad.mit.edu	37	10	93756124	93756124	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:93756124A>T	ENST00000265990.6	+	24	3617		c.e24-1		BTAF1_ENST00000544642.1_5'Flank	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTTGTTTTTAGTTGGTCCAG	0.358																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.e24-1		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							109.0	93.0	98.0					10																	93756124		2203	4300	6503	SO:0001630	splice_region_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93756124A>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3310-1A>T	10.37:g.93756124A>T								NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			24	3617	+		Colorectal(252;0.0846)						B4E0W6|O43578	Splice_Site	SNP	ENST00000265990.6	37		CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.183098	0.78677	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTAF1	93746104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	.		0.358	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	Intron	4	65	0	0	0	1	0	4	65				
CTNNA1	1495	broad.mit.edu	37	5	138266608	138266608	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:138266608G>A	ENST00000302763.7	+	16	2372	c.2282G>A	c.(2281-2283)cGc>cAc	p.R761H	CTNNA1_ENST00000540387.1_Missense_Mutation_p.R391H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R658H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R761H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	761					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGCTTGGCCGCACCATTGCA	0.532																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(2281-2283)cGc>cAc		catenin (cadherin-associated protein), alpha 1, 102kDa							67.0	67.0	67.0					5																	138266608		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138266608G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2282G>A	5.37:g.138266608G>A	ENSP00000304669:p.Arg761His					CTNNA1_ENST00000518825.1_Missense_Mutation_p.R761H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R658H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R391H	p.R761H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		16	2372	+			761					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.2282G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024142	0.75390	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387;ENST00000520520	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.993;0.994;0.99	T	0.72773	-0.4192	10	0.87932	D	0	-8.713	19.0128	0.92881	0.0:0.0:1.0:0.0	.	761;638;761	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	H	658;761;761;746;761;391;36	ENSP00000347190:R658H;ENSP00000304669:R761H;ENSP00000427821:R761H;ENSP00000438476:R391H;ENSP00000430076:R36H	ENSP00000304669:R761H	R	+	2	0	CTNNA1	138294507	1.000000	0.71417	0.889000	0.34880	0.118000	0.20060	9.635000	0.98437	2.825000	0.97269	0.655000	0.94253	CGC		0.532	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		4	129	0	0	0	1	0	4	129				
SBF1	6305	broad.mit.edu	37	22	50893343	50893343	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:50893343C>T	ENST00000390679.3	-	34	4818	c.4634G>A	c.(4633-4635)aGg>aAg	p.R1545K	SBF1_ENST00000348911.6_Missense_Mutation_p.R1546K|SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000380817.3_Missense_Mutation_p.R1571K			O95248	MTMR5_HUMAN	SET binding factor 1	1545	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1571K(1)|p.R1545K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACCTGGCCCCTGCGTTCCCC	0.637																																						ENST00000380817.2																			2	Substitution - Missense(2)	p.R1571K(1)|p.R1545K(1)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(4711-4713)aGg>aAg		SET binding factor 1							45.0	52.0	50.0					22																	50893343		2135	4229	6364	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50893343C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4634G>A	22.37:g.50893343C>T	ENSP00000375097:p.Arg1545Lys					SBF1_ENST00000390679.3_Missense_Mutation_p.R1545K|SBF1_ENST00000348911.6_Missense_Mutation_p.R1546K	p.R1571K	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	35	4895	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1545			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.4712G>A		.	.	.	.	.	.	.	.	.	.	C	11.99	1.803498	0.31869	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.85773	-2.03;-2.03;-2.02	3.74	-0.733	0.11144	Myotubularin phosphatase domain (1);	1.122620	0.06887	N	0.803508	T	0.66992	0.2846	N	0.04297	-0.235	0.34552	D	0.711381	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.56848	-0.7911	10	0.24483	T	0.36	.	7.8097	0.29223	0.0:0.4797:0.0:0.5203	.	1545;1571;104	O95248;O95248-4;A6PVG7	MTMR5_HUMAN;.;.	K	1571;1546;1581;1545	ENSP00000370196:R1571K;ENSP00000252027:R1546K;ENSP00000375097:R1545K	ENSP00000336522:R1581K	R	-	2	0	SBF1	49240209	0.000000	0.05858	0.995000	0.50966	0.963000	0.63663	0.110000	0.15437	0.063000	0.16370	0.462000	0.41574	AGG		0.637	SBF1-201	KNOWN	basic	protein_coding	protein_coding				8	23	0	0	0	1	0	8	23				
KIF22	3835	broad.mit.edu	37	16	29810978	29810978	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:29810978C>T	ENST00000160827.4	+	7	1060	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	KIF22_ENST00000400751.5_Silent_p.I272I|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Silent_p.I272I|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_Silent_p.I272I	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	340	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCCACAGTATCCTTATTGCCA	0.557																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(814-816)atC>atT		kinesin family member 22							57.0	42.0	47.0					16																	29810978		2197	4296	6493	SO:0001819	synonymous_variant	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29810978C>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1020C>T	16.37:g.29810978C>T						KIF22_ENST00000160827.4_Silent_p.I340I|KIF22_ENST00000569382.2_Silent_p.I272I|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Silent_p.I272I|KIF22_ENST00000563263.1_3'UTR	p.I272I	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			7	1453	+			340			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Silent	SNP	ENST00000160827.4	37	c.816C>T	CCDS10653.1																																																																																				0.557	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			9	50	0	0	0	1	0	9	50				
CADPS2	93664	broad.mit.edu	37	7	122033517	122033517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:122033517G>A	ENST00000449022.2	-	21	2885	c.2866C>T	c.(2866-2868)Cag>Tag	p.Q956*	CADPS2_ENST00000412584.2_Nonsense_Mutation_p.Q950*|CADPS2_ENST00000334010.7_Nonsense_Mutation_p.Q954*|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Nonsense_Mutation_p.Q950*|RP5-1101C3.1_ENST00000593910.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	956	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATGTCTCCTGCTCAAAACCT	0.473																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2860-2862)Cag>Tag		Ca++-dependent secretion activator 2							150.0	146.0	147.0					7																	122033517		1990	4176	6166	SO:0001587	stop_gained	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122033517G>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2866C>T	7.37:g.122033517G>A	ENSP00000398481:p.Gln956*					RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Nonsense_Mutation_p.Q956*|CADPS2_ENST00000412584.2_Nonsense_Mutation_p.Q950*|CADPS2_ENST00000313070.7_Nonsense_Mutation_p.Q950*	p.Q954*	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			19	3281	-			956			Interaction with DRD2.|MHD1.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Nonsense_Mutation	SNP	ENST00000449022.2	37	c.2860C>T	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.524009|11.524009	0.99572|0.99572	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.061993	.|0.64402	.|D	.|0.000003	T|.	0.48484|.	0.1502|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35674|.	-0.9779|.	3|.	.|0.02654	.|T	.|1	-17.5087|-17.5087	20.0401|20.0401	0.97581|0.97581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	598|129;950;954;961;917;950;956	.|.	.|ENSP00000325581:Q950X	A|Q	-|-	2|1	0|0	CADPS2|CADPS2	121820753|121820753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	6.562000|6.562000	0.73960|0.73960	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.473	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		5	249	0	0	0	1	0	5	249				
ACLY	47	broad.mit.edu	37	17	40049295	40049295	+	Missense_Mutation	SNP	T	T	G	rs144101604		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:40049295T>G	ENST00000352035.2	-	15	1722	c.1592A>C	c.(1591-1593)tAc>tCc	p.Y531S	ACLY_ENST00000393896.2_Missense_Mutation_p.Y521S|ACLY_ENST00000537919.1_Missense_Mutation_p.Y260S|ACLY_ENST00000353196.1_Missense_Mutation_p.Y521S|ACLY_ENST00000590151.1_Missense_Mutation_p.Y531S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	531					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.Y531S(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CGTGAAAGGGTAGACCATGGC	0.577																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	1	Substitution - Missense(1)	p.Y531S(1)	kidney(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1591-1593)tAc>tCc		ATP citrate lyase							63.0	62.0	62.0					17																	40049295		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40049295T>G	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1592A>C	17.37:g.40049295T>G	ENSP00000253792:p.Tyr531Ser					ACLY_ENST00000393896.2_Missense_Mutation_p.Y521S|ACLY_ENST00000537919.1_Missense_Mutation_p.Y260S|ACLY_ENST00000590151.1_Missense_Mutation_p.Y531S|ACLY_ENST00000353196.1_Missense_Mutation_p.Y521S	p.Y531S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			15	1722	-		Breast(137;0.000143)	531					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.1592A>C	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037747	0.93630	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	6.08	6.08	0.98989	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93200	0.7834	M	0.93062	3.375	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.996;0.998;0.986;0.999;0.96	D	0.94013	0.7286	10	0.52906	T	0.07	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	260;575;585;521;531	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	S	531;585;521;260;521	ENSP00000253792:Y531S;ENSP00000345398:Y521S;ENSP00000445349:Y260S;ENSP00000377474:Y521S	ENSP00000253792:Y531S	Y	-	2	0	ACLY	37302821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.333000	0.79357	0.533000	0.62120	TAC		0.577	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		28	69	0	0	0	1	0	28	69				
GUF1	60558	broad.mit.edu	37	4	44696427	44696427	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:44696427A>T	ENST00000281543.5	+	14	1807		c.e14-1		RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_Splice_Site	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTCCTTTTAGTTTTGATTA	0.343																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.e14-1		GUF1 GTPase homolog (S. cerevisiae)							80.0	81.0	81.0					4																	44696427		2203	4297	6500	SO:0001630	splice_region_variant	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44696427A>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1614-1A>T	4.37:g.44696427A>T						GUF1_ENST00000506793.1_Splice_Site		NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			14	1807	+									Splice_Site	SNP	ENST00000281543.5	37		CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789302	0.49997	.	.	ENSG00000151806	ENST00000281543	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6308	0.68655	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUF1	44391184	1.000000	0.71417	0.956000	0.39512	0.701000	0.40568	8.881000	0.92415	2.055000	0.61198	0.482000	0.46254	.		0.343	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927	Intron	4	40	0	0	0	1	0	4	40				
KCNRG	283518	broad.mit.edu	37	13	50594550	50594550	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr13:50594550A>G	ENST00000312942.1	+	2	1019	c.779A>G	c.(778-780)gAg>gGg	p.E260G	KCNRG_ENST00000360473.4_3'UTR|TRIM13_ENST00000478111.1_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	260					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)	p.E260G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CCAAAACCAGAGACTATCATC	0.353																																						ENST00000312942.1																			1	Substitution - Missense(1)	p.E260G(1)	kidney(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(778-780)gAg>gGg		potassium channel regulator							73.0	68.0	70.0					13																	50594550		2203	4300	6503	SO:0001583	missense	283518					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50594550A>G		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.779A>G	13.37:g.50594550A>G	ENSP00000324191:p.Glu260Gly					KCNRG_ENST00000360473.4_3'UTR|TRIM13_ENST00000478111.1_3'UTR	p.E260G	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	2	1019	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	260					A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	ENST00000312942.1	37	c.779A>G	CCDS9424.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.566533	0.28003	.	.	ENSG00000198553	ENST00000312942	T	0.58797	0.31	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000002	T	0.41096	0.1144	N	0.20986	0.625	0.32113	N	0.589065	B	0.21753	0.06	B	0.20577	0.03	T	0.49031	-0.8981	10	0.45353	T	0.12	.	8.0242	0.30427	0.8776:0.0:0.1224:0.0	.	260	Q8N5I3	KCNRG_HUMAN	G	260	ENSP00000324191:E260G	ENSP00000324191:E260G	E	+	2	0	KCNRG	49492551	0.999000	0.42202	0.997000	0.53966	0.386000	0.30323	1.497000	0.35649	2.018000	0.59344	0.455000	0.32223	GAG		0.353	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			22	98	0	0	0	1	0	22	98				
CTCF	10664	broad.mit.edu	37	16	67644821	67644821	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:67644821G>A	ENST00000264010.4	+	3	530	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	29					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAGAGACGCCGGGAAGGGGGC	0.522																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(85-87)cGg>cAg		CCCTC-binding factor (zinc finger protein)							48.0	54.0	52.0					16																	67644821		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67644821G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.86G>A	16.37:g.67644821G>A	ENSP00000264010:p.Arg29Gln					CTCF_ENST00000401394.1_Intron	p.R29Q	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	530	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	29					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.86G>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215811	0.95104	.	.	ENSG00000102974	ENST00000264010	T	0.13778	2.56	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000008	T	0.23926	0.0579	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.02009	-1.1230	10	0.87932	D	0	-2.3739	18.8924	0.92410	0.0:0.0:1.0:0.0	.	29	P49711	CTCF_HUMAN	Q	29	ENSP00000264010:R29Q	ENSP00000264010:R29Q	R	+	2	0	CTCF	66202322	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.138000	0.64795	2.696000	0.92011	0.655000	0.94253	CGG		0.522	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		3	80	0	0	0	1	0	3	80				
USP44	84101	broad.mit.edu	37	12	95927476	95927476	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:95927476A>T	ENST00000258499.3	-	2	845	c.557T>A	c.(556-558)gTa>gAa	p.V186E	USP44_ENST00000552440.1_Missense_Mutation_p.V186E|USP44_ENST00000393091.2_Missense_Mutation_p.V186E|USP44_ENST00000537435.2_Missense_Mutation_p.V186E	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	186					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TTCTCTTTTTACTACTATTTT	0.363																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(556-558)gTa>gAa		ubiquitin specific peptidase 44							77.0	77.0	77.0					12																	95927476		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95927476A>T	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.557T>A	12.37:g.95927476A>T	ENSP00000258499:p.Val186Glu					USP44_ENST00000537435.2_Missense_Mutation_p.V186E|USP44_ENST00000552440.1_Missense_Mutation_p.V186E|USP44_ENST00000393091.2_Missense_Mutation_p.V186E	p.V186E	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			2	845	-			186					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.557T>A	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.413059	0.00191	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435	T;T;T;T	0.12774	3.86;3.86;2.65;3.86	3.83	2.92	0.33932	.	2.399920	0.01151	N	0.006428	T	0.06600	0.0169	N	0.08118	0	0.20196	N	0.99993	B	0.02656	0.0	B	0.01281	0.0	T	0.36065	-0.9763	10	0.02654	T	1	.	3.8728	0.09044	0.2066:0.0:0.4316:0.3618	.	186	Q9H0E7	UBP44_HUMAN	E	186	ENSP00000258499:V186E;ENSP00000376806:V186E;ENSP00000448670:V186E;ENSP00000442629:V186E	ENSP00000258499:V186E	V	-	2	0	USP44	94451607	0.008000	0.16893	0.467000	0.27180	0.638000	0.38207	0.400000	0.20932	0.671000	0.31185	-0.366000	0.07423	GTA		0.363	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		4	102	0	0	0	1	0	4	102				
KCNA4	3739	broad.mit.edu	37	11	30033987	30033987	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:30033987C>T	ENST00000328224.6	-	2	1472	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	80					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCGACTACCCCGGCTGCTCTG	0.642																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(238-240)cGg>cAg		potassium voltage-gated channel, shaker-related subfamily, member 4							43.0	45.0	44.0					11																	30033987		2015	4177	6192	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033987C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.239G>A	11.37:g.30033987C>T	ENSP00000328511:p.Arg80Gln						p.R80Q	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1472	-			80						Missense_Mutation	SNP	ENST00000328224.6	37	c.239G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231992	0.39399	.	.	ENSG00000182255	ENST00000328224	D	0.96774	-4.12	4.84	2.93	0.34026	.	3.718980	0.01322	U	0.010967	D	0.91801	0.7406	N	0.24115	0.695	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.82388	-0.0482	10	0.17369	T	0.5	.	5.3274	0.15915	0.0:0.6269:0.197:0.1761	.	80	P22459	KCNA4_HUMAN	Q	80	ENSP00000328511:R80Q	ENSP00000328511:R80Q	R	-	2	0	KCNA4	29990563	0.249000	0.23941	0.069000	0.20011	0.938000	0.57974	1.452000	0.35156	1.007000	0.39238	0.561000	0.74099	CGG		0.642	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		3	113	0	0	0	1	0	3	113				
ZNF106	64397	broad.mit.edu	37	15	42738800	42738800	+	Silent	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:42738800A>T	ENST00000263805.4	-	4	3449	c.3123T>A	c.(3121-3123)atT>atA	p.I1041I	ZNF106_ENST00000565611.1_Silent_p.I226I|ZNF106_ENST00000565380.1_Silent_p.I269I	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1041					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTTTTCCTTTAATTTTCCTTC	0.358																																						ENST00000263805.4																			0											c.(3121-3123)atT>atA		zinc finger protein 106							83.0	80.0	81.0					15																	42738800		2203	4298	6501	SO:0001819	synonymous_variant	64397							g.chr15:42738800A>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3123T>A	15.37:g.42738800A>T						ZNF106_ENST00000565611.1_Silent_p.I226I|ZNF106_ENST00000565380.1_Silent_p.I269I	p.I1041I	NM_022473.1	NP_071918.1					4	3449	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.3123T>A	CCDS32208.1																																																																																				0.358	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		3	14	0	0	0	1	0	3	14				
PRCC	5546	broad.mit.edu	37	1	156767110	156767110	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:156767110C>A	ENST00000271526.4	+	6	1638	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	PRCC_ENST00000353233.3_Missense_Mutation_p.Q424K	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	456					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.Q456K(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGGAAACACCAGATCACATA	0.463			T	TFE3	papillary renal						OREG0013886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	1	Substitution - Missense(1)	p.Q456K(1)	kidney(1)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1366-1368)Cag>Aag		papillary renal cell carcinoma (translocation-associated)							84.0	91.0	88.0					1																	156767110		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156767110C>A	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1366C>A	1.37:g.156767110C>A	ENSP00000271526:p.Gln456Lys		OREG0013886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	PRCC_ENST00000353233.3_Missense_Mutation_p.Q424K	p.Q456K	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			6	1638	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		456					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.1366C>A	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868738	0.91587	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	T;T	0.68903	-0.36;-0.23	5.43	5.43	0.79202	Mitotic checkpoint protein PRCC, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.995	T	0.81640	-0.0841	10	0.87932	D	0	-18.1796	17.9695	0.89108	0.0:1.0:0.0:0.0	.	424;456	A6NG79;Q92733	.;PRCC_HUMAN	K	456;424;432;163	ENSP00000271526:Q456K;ENSP00000339300:Q424K	ENSP00000271526:Q456K	Q	+	1	0	PRCC	155033734	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.957000	0.76019	2.824000	0.97209	0.655000	0.94253	CAG		0.463	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		11	166	1	0	0.00010058	1	0.000108317	11	166				
STIP1	10963	broad.mit.edu	37	11	63971042	63971042	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:63971042G>A	ENST00000305218.4	+	13	1654	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	STIP1_ENST00000358794.5_Missense_Mutation_p.A550T|STIP1_ENST00000538945.1_Missense_Mutation_p.A479T	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	503	STI1 2.				response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAGTGACCCAGCCATGCGCCT	0.587																																						ENST00000358794.5																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(1648-1650)Gcc>Acc		stress-induced-phosphoprotein 1							64.0	49.0	54.0					11																	63971042		2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63971042G>A	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1507G>A	11.37:g.63971042G>A	ENSP00000305958:p.Ala503Thr					STIP1_ENST00000538945.1_Missense_Mutation_p.A479T|STIP1_ENST00000305218.4_Missense_Mutation_p.A503T	p.A550T			P31948	STIP1_HUMAN			13	2201	+			503					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.1648G>A	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134336	0.94517	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000540887	T;T;T	0.14516	2.5;2.74;2.52	5.36	5.36	0.76844	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.01504	-1.1338	10	0.14656	T	0.56	-10.9469	18.2269	0.89920	0.0:0.0:1.0:0.0	.	479;503	F5H0T1;P31948	.;STIP1_HUMAN	T	550;503;479;102	ENSP00000351646:A550T;ENSP00000305958:A503T;ENSP00000445957:A479T	ENSP00000305958:A503T	A	+	1	0	STIP1	63727618	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.124000	0.94394	2.697000	0.92050	0.491000	0.48974	GCC		0.587	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		5	257	0	0	0	1	0	5	257				
ST18	9705	broad.mit.edu	37	8	53071532	53071532	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:53071532T>C	ENST00000276480.7	-	15	2415	c.1732A>G	c.(1732-1734)Atc>Gtc	p.I578V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	578					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGGTTCAGGATGGCAGCAGCT	0.597																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1732-1734)Atc>Gtc		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							119.0	123.0	121.0					8																	53071532		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53071532T>C	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1732A>G	8.37:g.53071532T>C	ENSP00000276480:p.Ile578Val						p.I578V	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			15	2415	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	578					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1732A>G	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419247	0.83559	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.55588	0.51;0.51	6.08	6.08	0.98989	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.74881	2.28	0.58432	D	0.999998	D;P	0.69078	0.997;0.924	D;P	0.80764	0.994;0.52	T	0.75921	-0.3147	10	0.72032	D	0.01	-20.6949	16.6438	0.85155	0.0:0.0:0.0:1.0	.	578;578	E5RHS3;O60284	.;ST18_HUMAN	V	578	ENSP00000276480:I578V;ENSP00000428521:I578V	ENSP00000276480:I578V	I	-	1	0	ST18	53234085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.333000	0.79357	0.533000	0.62120	ATC		0.597	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			24	123	0	0	0	1	0	24	123				
SLX4	84464	broad.mit.edu	37	16	3641179	3641179	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:3641179C>A	ENST00000294008.3	-	12	3100	c.2460G>T	c.(2458-2460)agG>agT	p.R820S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	820	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.R820S(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCACATTGACCTCAAGAGTT	0.478								Direct reversal of damage																														ENST00000294008.3																			1	Substitution - Missense(1)	p.R820S(1)	kidney(1)	breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(2458-2460)agG>agT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							162.0	173.0	170.0					16																	3641179		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3641179C>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2460G>T	16.37:g.3641179C>A	ENSP00000294008:p.Arg820Ser						p.R820S	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3100	-			820			Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2460G>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469857	0.84533	.	.	ENSG00000188827	ENST00000294008	T	0.01287	5.05	5.57	4.61	0.57282	.	0.254634	0.34879	N	0.003611	T	0.04724	0.0128	L	0.59436	1.845	0.26483	N	0.975078	D	0.59767	0.986	P	0.53954	0.738	T	0.06881	-1.0802	10	0.72032	D	0.01	.	15.5716	0.76341	0.0:0.8618:0.1382:0.0	.	820	Q8IY92	SLX4_HUMAN	S	820	ENSP00000294008:R820S	ENSP00000294008:R820S	R	-	3	2	SLX4	3581180	1.000000	0.71417	0.854000	0.33618	0.992000	0.81027	4.169000	0.58223	1.336000	0.45506	0.561000	0.74099	AGG		0.478	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		46	123	1	0	1.15181e-12	1	1.34377e-12	46	123				
DHX35	60625	broad.mit.edu	37	20	37620095	37620095	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:37620095A>T	ENST00000252011.3	+	6	483		c.e6-1		DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TTTATTTTTTAGTTTCTTACT	0.313																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.e6-1		DEAH (Asp-Glu-Ala-His) box polypeptide 35							112.0	112.0	112.0					20																	37620095		2203	4300	6503	SO:0001630	splice_region_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37620095A>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.451-1A>T	20.37:g.37620095A>T						DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site		NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			6	483	+		Myeloproliferative disorder(115;0.00878)						A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Splice_Site	SNP	ENST00000252011.3	37		CCDS13310.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028280	0.75390	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	.	.	.	5.95	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9984	0.47591	0.9261:0.0:0.0739:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX35	37053509	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.751000	0.85126	1.066000	0.40716	0.460000	0.39030	.		0.313	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	Intron	4	134	0	0	0	1	0	4	134				
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:7172406A>T	ENST00000406697.1	+	9	1148	c.520A>T	c.(520-522)Aat>Tat	p.N174Y	C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000328916.3_Missense_Mutation_p.N174Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	174					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTGTTAGTTAATTGCAGTGG	0.423																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(520-522)Aat>Tat		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						72.0	70.0	71.0					12																	7172406		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172406A>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.520A>T	12.37:g.7172406A>T	ENSP00000385035:p.Asn174Tyr					C1S_ENST00000328916.3_Missense_Mutation_p.N174Y|C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y	p.N174Y			P09871	C1S_HUMAN			9	1148	+			174					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.520A>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209523	0.58343	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	6.17	6.17	0.99709	CUB (2);	0.000000	0.45606	D	0.000349	T	0.18841	0.0452	N	0.19112	0.55	0.48341	D	0.999634	P	0.49185	0.92	B	0.43889	0.435	T	0.01401	-1.1364	10	0.72032	D	0.01	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	174	P09871	C1S_HUMAN	Y	174;174;174;163;7;7	ENSP00000385035:N174Y;ENSP00000328173:N174Y;ENSP00000354057:N174Y;ENSP00000384171:N7Y;ENSP00000442298:N7Y	ENSP00000328173:N174Y	N	+	1	0	C1S	7042667	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	5.137000	0.64789	2.371000	0.80710	0.533000	0.62120	AAT		0.423	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		4	113	0	0	0	1	0	4	113				
LHFPL5	222662	broad.mit.edu	37	6	35773519	35773519	+	Silent	SNP	C	C	A	rs369038953		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:35773519C>A	ENST00000373853.1	+	1	450	c.72C>A	c.(70-72)gcC>gcA	p.A24A	LHFPL5_ENST00000360215.1_Silent_p.A24A			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	24					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTCGCGAGCCGTGGGCGTGA	0.617																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(70-72)gcC>gcA		lipoma HMGIC fusion partner-like 5							168.0	148.0	155.0					6																	35773519		2203	4300	6503	SO:0001819	synonymous_variant	222662					integral to membrane		g.chr6:35773519C>A	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.72C>A	6.37:g.35773519C>A						LHFPL5_ENST00000373853.1_Silent_p.A24A	p.A24A	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			1	449	+			24					B3KX66	Silent	SNP	ENST00000373853.1	37	c.72C>A	CCDS4812.1																																																																																				0.617	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		3	72	1	0	1	1	1	3	72				
MADD	8567	broad.mit.edu	37	11	47298402	47298402	+	Silent	SNP	A	A	G	rs34602269	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:47298402A>G	ENST00000311027.5	+	5	1248	c.1083A>G	c.(1081-1083)gcA>gcG	p.A361A	MADD_ENST00000489415.1_3'UTR|MADD_ENST00000342922.4_Silent_p.A361A|MADD_ENST00000395344.3_Silent_p.A361A|MADD_ENST00000395336.3_Silent_p.A361A|MADD_ENST00000402799.1_Silent_p.A361A|MADD_ENST00000406482.1_Silent_p.A361A|MADD_ENST00000402192.2_Silent_p.A361A|MADD_ENST00000407859.3_Silent_p.A361A|MADD_ENST00000349238.3_Silent_p.A361A	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTGCATGGCATCAGCAGAGC	0.512													A|||	27	0.00539137	0.0	0.0058	5008	,	,		22826	0.0		0.0159	False		,,,				2504	0.0072					ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(1081-1083)gcA>gcG		MAP-kinase activating death domain		A	,,,,,,,,,	15,4387	22.3+/-47.3	0,15,2186	171.0	131.0	145.0		1083,1083,1083,1083,1083,1083,1083,1083,1083,1083	-3.3	0.8	11	dbSNP_126	145	148,8448	72.6+/-135.2	3,142,4153	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MADD	NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2	,,,,,,,,,	3,157,6339	GG,GA,AA		1.7217,0.3408,1.254	,,,,,,,,,	361/1545,361/1542,361/1648,361/1589,361/1566,361/1546,361/1609,361/1480,361/1582,361/1588	47298402	163,12835	2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47298402A>G	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1083A>G	11.37:g.47298402A>G						MADD_ENST00000407859.3_Silent_p.A361A|MADD_ENST00000406482.1_Silent_p.A361A|MADD_ENST00000349238.3_Silent_p.A361A|MADD_ENST00000402799.1_Silent_p.A361A|MADD_ENST00000395336.3_Silent_p.A361A|MADD_ENST00000311027.5_Silent_p.A361A|MADD_ENST00000395344.3_Silent_p.A361A|MADD_ENST00000402192.2_Silent_p.A361A|MADD_ENST00000489415.1_3'UTR	p.A361A	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	5	1440	+			361			DENN.			Silent	SNP	ENST00000311027.5	37	c.1083A>G	CCDS7930.1																																																																																				0.512	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			6	91	0	0	0	1	0	6	91				
IDH1	3417	broad.mit.edu	37	2	209104723	209104723	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:209104723A>C	ENST00000415913.1	-	8	1236	c.855T>G	c.(853-855)taT>taG	p.Y285*	IDH1_ENST00000345146.2_Nonsense_Mutation_p.Y285*|IDH1_ENST00000446179.1_Nonsense_Mutation_p.Y285*	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	285					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Y285*(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CGAGAGAGCCATACCCTGTAA	0.517			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		1	Substitution - Nonsense(1)	p.Y285*(1)	kidney(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(853-855)taT>taG		isocitrate dehydrogenase 1 (NADP+), soluble							106.0	81.0	89.0					2																	209104723		2203	4300	6503	SO:0001587	stop_gained	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209104723A>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.855T>G	2.37:g.209104723A>C	ENSP00000390265:p.Tyr285*					IDH1_ENST00000345146.2_Nonsense_Mutation_p.Y285*|IDH1_ENST00000446179.1_Nonsense_Mutation_p.Y285*	p.Y285*			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	8	1236	-			285					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Nonsense_Mutation	SNP	ENST00000415913.1	37	c.855T>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	A	38	7.080045	0.98048	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	.	.	.	6.08	-1.57	0.08506	.	0.051185	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-17.5657	11.0089	0.47651	0.6204:0.0:0.3796:0.0	.	.	.	.	X	285	.	ENSP00000260985:Y285X	Y	-	3	2	IDH1	208812968	1.000000	0.71417	0.982000	0.44146	0.460000	0.32559	1.566000	0.36396	-0.254000	0.09500	-0.353000	0.07706	TAT		0.517	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	100	0	0	0	1	0	33	100				
C4BPB	725	broad.mit.edu	37	1	207263815	207263815	+	Missense_Mutation	SNP	C	C	T	rs146047392		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:207263815C>T	ENST00000243611.5	+	2	515	c.221C>T	c.(220-222)aCt>aTt	p.T74I	C4BPB_ENST00000367078.3_Missense_Mutation_p.T74I|C4BPB_ENST00000391923.1_Missense_Mutation_p.T74I|C4BPB_ENST00000451804.2_Missense_Mutation_p.T64I|C4BPB_ENST00000367076.3_Missense_Mutation_p.T73I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	74	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						AACACCACTACTGAGTGCCGC	0.433																																						ENST00000243611.5																			0				breast(2)|lung(1)|ovary(1)	4						c.(220-222)aCt>aTt		complement component 4 binding protein, beta		C	ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR	0,4406		0,0,2203	117.0	108.0	111.0		221,218,221,218,221	3.4	0.0	1	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	C4BPB	NM_000716.3,NM_001017364.1,NM_001017365.1,NM_001017366.1,NM_001017367.1	89,89,89,89,89	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	74/253,73/252,74/253,73/252,74/253	207263815	1,13005	2203	4300	6503	SO:0001583	missense	725				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		g.chr1:207263815C>T	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.221C>T	1.37:g.207263815C>T	ENSP00000243611:p.Thr74Ile					C4BPB_ENST00000391923.1_Missense_Mutation_p.T74I|C4BPB_ENST00000451804.2_Missense_Mutation_p.T64I|C4BPB_ENST00000367078.3_Missense_Mutation_p.T74I|C4BPB_ENST00000367076.3_Missense_Mutation_p.T73I	p.T74I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN			2	515	+			74			Sushi 1.		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	ENST00000243611.5	37	c.221C>T	CCDS1476.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395044	0.25205	0.0	1.16E-4	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.32	3.41	0.39046	Complement control module (2);Sushi/SCR/CCP (3);	0.725268	0.12355	N	0.476185	T	0.47875	0.1469	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.25850	0.136;0.026;0.002;0.002	B;B;B;B	0.20577	0.03;0.009;0.005;0.003	T	0.43245	-0.9403	10	0.87932	D	0	-0.7055	7.5126	0.27583	0.0:0.7427:0.1673:0.0901	.	64;64;74;73	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	I	74;74;74;73;74;64	ENSP00000356045:T74I;ENSP00000392237:T74I;ENSP00000243611:T74I;ENSP00000356043:T73I;ENSP00000375790:T74I;ENSP00000405649:T64I	ENSP00000243611:T74I	T	+	2	0	C4BPB	205330438	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	1.899000	0.39818	0.708000	0.31955	-0.142000	0.14014	ACT		0.433	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		6	100	0	0	0	1	0	6	100				
AOC2	314	broad.mit.edu	37	17	40997811	40997811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:40997811C>T	ENST00000253799.3	+	1	1195	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	AOC2_ENST00000452774.2_Nonsense_Mutation_p.R390*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	390					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCGTAACAGCCGAGGCTTGGT	0.552																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(1168-1170)Cga>Tga		amine oxidase, copper containing 2 (retina-specific)							65.0	64.0	64.0					17																	40997811		2203	4300	6503	SO:0001587	stop_gained	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997811C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1168C>T	17.37:g.40997811C>T	ENSP00000253799:p.Arg390*					AOC2_ENST00000452774.2_Nonsense_Mutation_p.R390*	p.R390*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1195	+		Breast(137;0.000143)	390					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Nonsense_Mutation	SNP	ENST00000253799.3	37	c.1168C>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497346	0.44455	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	.	.	.	5.57	-0.352	0.12598	.	0.379963	0.27168	N	0.020613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-41.8343	0.4613	0.00517	0.2603:0.3037:0.1271:0.3088	.	.	.	.	X	390	.	ENSP00000253799:R390X	R	+	1	2	AOC2	38251337	0.000000	0.05858	0.004000	0.12327	0.164000	0.22412	0.313000	0.19415	0.024000	0.15214	0.591000	0.81541	CGA		0.552	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		3	117	0	0	0	1	0	3	117				
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	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		4	141	0	0	0	1	0	4	141				
CDCA7L	55536	broad.mit.edu	37	7	21938988	21938988	+	IGR	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:21938988G>T	ENST00000406877.3	-	0	3066				DNAH11_ENST00000328843.6_Missense_Mutation_p.D4369Y|DNAH11_ENST00000409508.3_Missense_Mutation_p.D4362Y	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CCGAGAACTCGATACTTGGAC	0.502																																						ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(13105-13107)Gat>Tat		dynein, axonemal, heavy chain 11							199.0	196.0	197.0					7																	21938988		1966	4148	6114	SO:0001628	intergenic_variant	8701	Kartagener syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21938988G>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21938988G>T						DNAH11_ENST00000409508.3_Missense_Mutation_p.D4362Y	p.D4369Y			Q96DT5	DYH11_HUMAN			81	13136	+			4369					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13105G>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429065	0.83667	.	.	ENSG00000105877	ENST00000328843	T	0.09073	3.02	5.48	5.48	0.80851	Dynein heavy chain (1);	0.044035	0.85682	D	0.000000	T	0.31199	0.0789	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.01090	-1.1455	9	0.54805	T	0.06	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	4369	Q96DT5	DYH11_HUMAN	Y	4369	ENSP00000330671:D4369Y	ENSP00000330671:D4369Y	D	+	1	0	DNAH11	21905513	1.000000	0.71417	0.065000	0.19835	0.621000	0.37620	9.825000	0.99386	2.576000	0.86940	0.655000	0.94253	GAT		0.502	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		9	292	1	0	5.16669e-11	1	5.9945e-11	9	292				
RSU1	6251	broad.mit.edu	37	10	16824085	16824085	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:16824085T>A	ENST00000377921.3	-	2	411		c.e2-2		RSU1_ENST00000345264.5_Splice_Site|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000464074.2_Intron			Q15404	RSU1_HUMAN	Ras suppressor protein 1						cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATAAGGTAACTAAAAAGAAAA	0.358																																						ENST00000377921.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14						c.e2-2		Ras suppressor protein 1							110.0	113.0	112.0					10																	16824085		2203	4300	6503	SO:0001630	splice_region_variant	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16824085T>A	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.110-2A>T	10.37:g.16824085T>A						RSU1_ENST00000464074.2_Intron|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000345264.5_Splice_Site				Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	2	411	-								A8KA46|D3DRU3|Q6FI17	Splice_Site	SNP	ENST00000377921.3	37		CCDS7112.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358992	0.82353	.	.	ENSG00000148484	ENST00000345264;ENST00000377921	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6646	0.56835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RSU1	16864091	1.000000	0.71417	0.723000	0.30687	0.746000	0.42486	5.749000	0.68704	2.083000	0.62718	0.533000	0.62120	.		0.358	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724	Intron	6	129	0	0	0	1	0	6	129				
GRIN2B	2904	broad.mit.edu	37	12	13769424	13769424	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:13769424C>A	ENST00000609686.1	-	5	1502	c.1293G>T	c.(1291-1293)agG>agT	p.R431S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	431					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R431S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGACTGTGTTCCTCATGCAGG	0.517																																						ENST00000279593.3																			1	Substitution - Missense(1)	p.R431S(1)	kidney(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1291-1293)agG>agT		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						182.0	148.0	160.0					12																	13769424		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13769424C>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1293G>T	12.37:g.13769424C>A	ENSP00000477455:p.Arg431Ser						p.R431S	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			5	1502	-			431					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1293G>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887419	0.72410	.	.	ENSG00000150086	ENST00000279593	T	0.12672	2.66	5.53	4.62	0.57501	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.55743	1.74	0.80722	D	1	D	0.64830	0.994	D	0.63381	0.914	T	0.01007	-1.1483	10	0.54805	T	0.06	.	10.5697	0.45194	0.0:0.7936:0.1346:0.0718	.	431	Q13224	NMDE2_HUMAN	S	431	ENSP00000279593:R431S	ENSP00000279593:R431S	R	-	3	2	GRIN2B	13660691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.982000	0.56909	1.279000	0.44446	0.563000	0.77884	AGG		0.517	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			37	283	1	0	1.59361e-14	1	1.89072e-14	37	283				
SETD2	29072	broad.mit.edu	37	3	47098361	47098361	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:47098361C>A	ENST00000409792.3	-	15	6955	c.6913G>T	c.(6913-6915)Gtc>Ttc	p.V2305F		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2305	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACACCATAGACTGTTGGACAT	0.413			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6913-6915)Gtc>Ttc		SET domain containing 2							118.0	113.0	115.0					3																	47098361		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098361C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6913G>T	3.37:g.47098361C>A	ENSP00000386759:p.Val2305Phe						p.V2305F	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6955	-		Acute lymphoblastic leukemia(5;0.0169)	2305			Gln-rich.|Low charge region.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6913G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724798	0.68959	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.48836	0.8	5.2	5.2	0.72013	.	0.000000	0.51477	D	0.000086	T	0.56217	0.1970	L	0.40543	1.245	0.40584	D	0.981422	D;D	0.69078	0.997;0.997	D;P	0.63597	0.916;0.888	T	0.56786	-0.7921	10	0.59425	D	0.04	.	12.5998	0.56491	0.0:0.9244:0.0:0.0756	.	2305;2305	F2Z317;Q9BYW2	.;SETD2_HUMAN	F	2305	ENSP00000386759:V2305F	ENSP00000386759:V2305F	V	-	1	0	SETD2	47073365	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.414000	0.52693	2.861000	0.98227	0.655000	0.94253	GTC		0.413	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		3	129	1	0	0.00909568	1	0.00940932	3	129				
ZNF451	26036	broad.mit.edu	37	6	57025930	57025930	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:57025930A>G	ENST00000370706.4	+	14	3363	c.3119A>G	c.(3118-3120)gAa>gGa	p.E1040G	RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.E992G|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	1040					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCAATAGGAGAAGAATTTATA	0.313																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(3118-3120)gAa>gGa		zinc finger protein 451							112.0	118.0	116.0					6																	57025930		2203	4296	6499	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57025930A>G	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.3119A>G	6.37:g.57025930A>G	ENSP00000359740:p.Glu1040Gly					RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.E992G|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	p.E1040G	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		14	3363	+	Lung NSC(77;0.145)		1040					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.3119A>G	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.681092	0.68042	.	.	ENSG00000112200	ENST00000370706;ENST00000357489	T;T	0.21932	2.04;1.98	4.94	4.94	0.65067	.	0.330210	0.28284	N	0.015910	T	0.15435	0.0372	L	0.36672	1.1	0.80722	D	1	D;P	0.55605	0.972;0.953	P;P	0.51453	0.67;0.469	T	0.01409	-1.1362	10	0.62326	D	0.03	-11.4327	11.2634	0.49095	1.0:0.0:0.0:0.0	.	992;1040	Q9Y4E5-2;Q9Y4E5	.;ZN451_HUMAN	G	1040;992	ENSP00000359740:E1040G;ENSP00000350083:E992G	ENSP00000350083:E992G	E	+	2	0	ZNF451	57133889	1.000000	0.71417	0.994000	0.49952	0.908000	0.53690	4.110000	0.57831	1.979000	0.57680	0.482000	0.46254	GAA		0.313	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		34	70	0	0	0	1	0	34	70				
ANK2	287	broad.mit.edu	37	4	114279032	114279032	+	Silent	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:114279032G>A	ENST00000357077.4	+	38	9311	c.9258G>A	c.(9256-9258)agG>agA	p.R3086R	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.R3053R|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3086					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3086R(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCCTGCTAGGACCCCAACTG	0.463																																						ENST00000357077.4																			1	Substitution - coding silent(1)	p.R3086R(1)	central_nervous_system(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(9256-9258)agG>agA		ankyrin 2, neuronal							57.0	58.0	58.0					4																	114279032		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279032G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9258G>A	4.37:g.114279032G>A						ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.R3053R|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	p.R3086R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9311	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3053					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.9258G>A	CCDS3702.1																																																																																				0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	190	0	0	0	1	0	8	190				
SLC5A7	60482	broad.mit.edu	37	2	108626754	108626754	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:108626754G>T	ENST00000264047.2	+	9	1456	c.1180G>T	c.(1180-1182)Gcc>Tcc	p.A394S	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A394S|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A289S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	394					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATCTGCAACAGCCATGGCCTT	0.458																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1180-1182)Gcc>Tcc		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						231.0	180.0	197.0					2																	108626754		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626754G>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1180G>T	2.37:g.108626754G>T	ENSP00000264047:p.Ala394Ser					SLC5A7_ENST00000540517.1_Missense_Mutation_p.A289S|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A394S	p.A394S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			9	1456	+			394					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1180G>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968280	0.34754	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88277	-2.36;-2.36;-2.36	5.85	4.01	0.46588	.	0.263614	0.42821	D	0.000650	T	0.81394	0.4813	L	0.29908	0.895	0.52099	D	0.999941	B	0.09022	0.002	B	0.15870	0.014	T	0.75442	-0.3316	10	0.30854	T	0.27	-12.4025	10.6864	0.45846	0.2107:0.0:0.7893:0.0	.	394	Q9GZV3	SC5A7_HUMAN	S	394;289;394	ENSP00000387346:A394S;ENSP00000445351:A289S;ENSP00000264047:A394S	ENSP00000264047:A394S	A	+	1	0	SLC5A7	107993186	1.000000	0.71417	0.914000	0.36105	0.939000	0.58152	4.126000	0.57937	1.441000	0.47550	0.650000	0.86243	GCC		0.458	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			20	190	1	0	8.34094e-07	1	9.41719e-07	20	190				
DMXL1	1657	broad.mit.edu	37	5	118525401	118525401	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:118525401A>T	ENST00000311085.8	+	29	7215		c.e29-1		DMXL1_ENST00000539542.1_Splice_Site	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1											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)		TCTTTTTGTTAGTTTCTTCAC	0.368																																						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.e29-1		Dmx-like 1							51.0	54.0	53.0					5																	118525401		2202	4300	6502	SO:0001630	splice_region_variant	1657							g.chr5:118525401A>T	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.7136-1A>T	5.37:g.118525401A>T						DMXL1_ENST00000539542.1_Splice_Site		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	7215	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)							Splice_Site	SNP	ENST00000311085.8	37		CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936854	0.73557	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.96	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2319	0.54492	0.8523:0.1477:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DMXL1	118553300	1.000000	0.71417	0.970000	0.41538	0.958000	0.62258	1.444000	0.35068	1.064000	0.40671	0.528000	0.53228	.		0.368	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	Intron	11	198	0	0	0	1	0	11	198				
OR8B4	283162	broad.mit.edu	37	11	124294708	124294708	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:124294708C>G	ENST00000356130.3	-	1	81	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGAGCTCTGGCTGTTCTGATA	0.473																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(58-60)caG>caC		olfactory receptor, family 8, subfamily B, member 4							52.0	50.0	51.0					11																	124294708		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294708C>G	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.60G>C	11.37:g.124294708C>G	ENSP00000348449:p.Gln20His						p.Q20H	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	81	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	20					B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.60G>C	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	c	1.517	-0.548010	0.04024	.	.	ENSG00000198657	ENST00000356130	T	0.01084	5.36	4.62	-7.86	0.01187	.	0.449979	0.19321	N	0.117134	T	0.00608	0.0020	N	0.13168	0.305	0.09310	N	1	B	0.15930	0.015	B	0.15484	0.013	T	0.42899	-0.9424	10	0.41790	T	0.15	.	4.8327	0.13449	0.1372:0.4457:0.275:0.1421	.	20	Q96RC9	OR8B4_HUMAN	H	20	ENSP00000348449:Q20H	ENSP00000348449:Q20H	Q	-	3	2	OR8B4	123799918	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.344000	0.01098	-1.303000	0.02332	-0.302000	0.09304	CAG		0.473	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		10	218	0	0	0	1	0	10	218				
PROKR1	10887	broad.mit.edu	37	2	68882419	68882419	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:68882419C>T	ENST00000303786.3	+	3	1313	c.893C>T	c.(892-894)gCg>gTg	p.A298V	PROKR1_ENST00000394342.2_Missense_Mutation_p.A298V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	298					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.A298V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTATGCTGGGCGCCCTTCTAC	0.597																																						ENST00000303786.3																			1	Substitution - Missense(1)	p.A298V(1)	kidney(1)	endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(892-894)gCg>gTg		prokineticin receptor 1							126.0	97.0	107.0					2																	68882419		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882419C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.893C>T	2.37:g.68882419C>T	ENSP00000303775:p.Ala298Val					PROKR1_ENST00000394342.2_Missense_Mutation_p.A298V	p.A298V			Q8TCW9	PKR1_HUMAN			3	1313	+			298					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.893C>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570788	0.86542	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.71698	-0.59;-0.59	4.68	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.088873	0.85682	N	0.000000	T	0.77184	0.4093	M	0.64997	1.995	0.54753	D	0.999989	D	0.62365	0.991	P	0.58780	0.845	T	0.79288	-0.1865	10	0.66056	D	0.02	.	11.1188	0.48277	0.0:0.9098:0.0:0.0902	.	298	Q8TCW9	PKR1_HUMAN	V	298	ENSP00000303775:A298V;ENSP00000377874:A298V	ENSP00000303775:A298V	A	+	2	0	PROKR1	68735923	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	4.588000	0.60999	1.584000	0.49913	0.655000	0.94253	GCG		0.597	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			49	197	0	0	0	1	0	49	197				
LPCAT3	10162	broad.mit.edu	37	12	7087581	7087581	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:7087581A>G	ENST00000261407.4	-	9	1047	c.962T>C	c.(961-963)gTg>gCg	p.V321A	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_Splice_Site	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	321					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)	p.V321A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAAGAGCCACACCTTCATGTT	0.547																																						ENST00000261407.4																			1	Substitution - Missense(1)	p.V321A(1)	kidney(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(961-963)gTg>gCg		lysophosphatidylcholine acyltransferase 3							109.0	102.0	104.0					12																	7087581		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7087581A>G	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.962T>C	12.37:g.7087581A>G	ENSP00000261407:p.Val321Ala					U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_Splice_Site	p.V321A	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			9	1047	-			321					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.962T>C	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524892	0.85600	.	.	ENSG00000111684	ENST00000261407	T	0.73152	-0.72	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	M	0.80746	2.51	0.80722	D	1	D	0.71674	0.998	P	0.61592	0.891	D	0.84770	0.0767	10	0.52906	T	0.07	-8.4189	16.255	0.82510	1.0:0.0:0.0:0.0	.	321	Q6P1A2	MBOA5_HUMAN	A	321	ENSP00000261407:V321A	ENSP00000261407:V321A	V	-	2	0	LPCAT3	6957842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.348000	0.90064	2.240000	0.73641	0.533000	0.62120	GTG		0.547	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		63	174	0	0	0	1	0	63	174				
LY6G5C	80741	broad.mit.edu	37	6	31647002	31647002	+	Silent	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:31647002T>C	ENST00000383237.4	-	2	168	c.165A>G	c.(163-165)ccA>ccG	p.P55P	LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375858.3_Silent_p.P52P|LY6G5C_ENST00000375860.2_Silent_p.P53P			Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	55						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						ATTTGGGGAATGGAAGTGGTT	0.547																																						ENST00000375858.3																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						c.(154-156)ccA>ccG		lymphocyte antigen 6 complex, locus G5C							207.0	184.0	192.0					6																	31647002		1511	2709	4220	SO:0001819	synonymous_variant	80741					extracellular region		g.chr6:31647002T>C		CCDS34401.1, CCDS34401.2	6p21	2010-02-17	2002-07-29	2002-08-01	ENSG00000204428	ENSG00000204428			13932	protein-coding gene	gene with protein product		610434	"""chromosome 6 open reading frame 20"""	C6orf20		12079290	Standard	NM_025262		Approved	G5c, NG33	uc003nvu.2	Q5SRR4	OTTHUMG00000031228	ENST00000383237.4:c.165A>G	6.37:g.31647002T>C						LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000383237.4_Silent_p.P55P|LY6G5C_ENST00000375860.2_Silent_p.P53P	p.P52P	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN			2	164	-			55					A6NCW4|B0UXB3|B0UXB4|B0UZ69|B0UZQ0|B1B0L9|O95871|Q5SQ59|Q8NDY0|Q8NDY1	Silent	SNP	ENST00000383237.4	37	c.156A>G	CCDS34401.2	.	.	.	.	.	.	.	.	.	.	T	8.248	0.808267	0.16467	.	.	ENSG00000204428	ENST00000375863	.	.	.	3.46	-6.46	0.01908	.	.	.	.	.	T	0.04907	0.0132	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30794	-0.9966	4	.	.	.	-19.8807	0.3816	0.00396	0.2884:0.1898:0.1341:0.3878	.	.	.	.	R	130	.	.	H	-	2	0	LY6G5C	31754981	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-0.845000	0.04340	-1.084000	0.03092	-0.464000	0.05259	CAT		0.547	LY6G5C-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076473.4			6	387	0	0	0	1	0	6	387				
XIST	7503	broad.mit.edu	37	X	73063082	73063082	+	lincRNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:73063082C>T	ENST00000429829.1	-	0	9506					NR_001564.2				X inactive specific transcript (non-protein coding)																		CAGAAGGAGACATATATAATT	0.448																																						ENST00000429829.1																			0																				118.0	114.0	115.0					X																	73063082		876	1991	2867			7503							g.chrX:73063082C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063082C>T								NR_001564.2						0	9506	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.448	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		14	47	0	0	0	1	0	14	47				
PCDH11Y	83259	broad.mit.edu	37	Y	4924902	4924902	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrY:4924902C>T	ENST00000362095.5	+	1	772	c.38C>T	c.(37-39)tCt>tTt	p.S13F	PCDH11Y_ENST00000333703.4_Intron|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S13F	NM_032972.2	NP_116754.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	13					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTTCTTCCTCTTCTCTCTCT	0.373																																						ENST00000362095.5																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(37-39)tCt>tTt		protocadherin 11 Y-linked																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4924902C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000362095.5:c.38C>T	Y.37:g.4924902C>T	ENSP00000355419:p.Ser13Phe					PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S13F|PCDH11Y_ENST00000333703.4_Intron	p.S13F	NM_032972.2	NP_116754.1	Q9BZA8	PC11Y_HUMAN			1	772	+			13					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000362095.5	37	c.38C>T	CCDS14777.1																																																																																				0.373	PCDH11Y-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084980.1	NM_032973		4	40	0	0	0	1	0	4	40				
ZFYVE1	53349	broad.mit.edu	37	14	73491164	73491164	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:73491164C>A	ENST00000556143.1	-	2	773	c.53G>T	c.(52-54)tGc>tTc	p.C18F	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C18F|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C18F	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	18					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACTTTCCTGGCACATCAGCCC	0.547																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(52-54)tGc>tTc		zinc finger, FYVE domain containing 1							66.0	56.0	59.0					14																	73491164		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73491164C>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.53G>T	14.37:g.73491164C>A	ENSP00000450742:p.Cys18Phe					ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C18F|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C18F	p.C18F	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	773	-		all_lung(585;1.33e-09)	18					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.53G>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721980	0.68959	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.71341	-0.56;-0.53;-0.53	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.80854	-0.1196	10	0.87932	D	0	-19.1158	19.8043	0.96521	0.0:1.0:0.0:0.0	.	18;18	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	F	18	ENSP00000452442:C18F;ENSP00000326921:C18F;ENSP00000450742:C18F	ENSP00000326921:C18F	C	-	2	0	ZFYVE1	72560917	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	7.400000	0.79949	2.695000	0.91970	0.585000	0.79938	TGC		0.547	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		3	61	1	0	0.115264	1	0.117502	3	61				
SIK3	23387	broad.mit.edu	37	11	116730108	116730108	+	Missense_Mutation	SNP	C	C	T	rs201286237		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:116730108C>T	ENST00000292055.4	-	19	2355	c.2320G>A	c.(2320-2322)Ggc>Agc	p.G774S	SIK3_ENST00000542607.1_Missense_Mutation_p.G774S|SIK3_ENST00000375288.1_Missense_Mutation_p.G169S|SIK3_ENST00000375300.1_Missense_Mutation_p.G832S|SIK3_ENST00000446921.2_Missense_Mutation_p.G832S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.G673S	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	774	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATGGAGATGCCGCGCCCACTG	0.607											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2494-2496)Ggc>Agc		SIK family kinase 3							88.0	72.0	78.0					11																	116730108		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116730108C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2320G>A	11.37:g.116730108C>T	ENSP00000292055:p.Gly774Ser		OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1475	SIK3_ENST00000434315.2_Missense_Mutation_p.G673S|SIK3_ENST00000446921.2_Missense_Mutation_p.G832S|SIK3_ENST00000375288.1_Missense_Mutation_p.G169S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.G774S|SIK3_ENST00000542607.1_Missense_Mutation_p.G774S	p.G832S			Q9Y2K2	SIK3_HUMAN			19	2499	-			774			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2494G>A	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.22|15.22	2.768547|2.768547	0.49680|0.49680	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921	T;T;T;T;T|T	0.71934|0.70869	-0.58;-0.61;1.08;-0.58;-0.22|-0.52	5.43|5.43	3.57|3.57	0.40892|0.40892	.|.	0.331863|.	0.21330|.	N|.	0.076302|.	T|T	0.59074|0.59074	0.2167|0.2167	N|N	0.14661|0.14661	0.345|0.345	0.37800|0.37800	D|D	0.927678|0.927678	B;B;B;B;B|.	0.30793|.	0.173;0.108;0.026;0.108;0.295|.	B;B;B;B;B|.	0.26517|.	0.047;0.023;0.015;0.021;0.07|.	T|T	0.62153|0.62153	-0.6914|-0.6914	10|7	0.33141|0.52906	T|T	0.24|0.07	.|.	10.1718|10.1718	0.42915|0.42915	0.0:0.8456:0.0:0.1544|0.0:0.8456:0.0:0.1544	.|.	774;774;673;774;169|.	Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2|.	.;.;.;SIK3_HUMAN;.|.	S|Q	832;774;169;774;673|873;796	ENSP00000364449:G832S;ENSP00000292055:G774S;ENSP00000364437:G169S;ENSP00000438108:G774S;ENSP00000415873:G673S|ENSP00000391295:R873Q	ENSP00000292055:G774S|ENSP00000391295:R873Q	G|R	-|-	1|2	0|0	SIK3|SIK3	116235318|116235318	0.314000|0.314000	0.24563|0.24563	0.752000|0.752000	0.31206|0.31206	0.835000|0.835000	0.47333|0.47333	1.582000|1.582000	0.36568|0.36568	0.653000|0.653000	0.30826|0.30826	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.607	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		3	104	0	0	0	1	0	3	104				
DNAJA2	10294	broad.mit.edu	37	16	47005387	47005387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:47005387C>T	ENST00000317089.5	-	3	451	c.236G>A	c.(235-237)gGc>gAc	p.G79D	RP11-169E6.1_ENST00000562536.1_RNA	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	79					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				ACCACCTCCGCCGCTGCCTTC	0.438																																						ENST00000317089.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(235-237)gGc>gAc		DnaJ (Hsp40) homolog, subfamily A, member 2							180.0	185.0	183.0					16																	47005387		2203	4300	6503	SO:0001583	missense	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:47005387C>T	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.236G>A	16.37:g.47005387C>T	ENSP00000314030:p.Gly79Asp						p.G79D	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN			3	451	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	79					B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	c.236G>A	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556338	0.65425	.	.	ENSG00000069345	ENST00000317089	T	0.74209	-0.82	5.97	5.02	0.67125	Heat shock protein DnaJ, N-terminal (2);	0.043945	0.85682	D	0.000000	T	0.73249	0.3563	M	0.62154	1.92	0.80722	D	1	B	0.24258	0.1	B	0.21546	0.035	T	0.70457	-0.4866	10	0.45353	T	0.12	-32.7339	17.3023	0.87185	0.0:0.8747:0.1253:0.0	.	79	O60884	DNJA2_HUMAN	D	79	ENSP00000314030:G79D	ENSP00000314030:G79D	G	-	2	0	DNAJA2	45562888	1.000000	0.71417	0.620000	0.29132	0.954000	0.61252	7.634000	0.83273	1.513000	0.48852	0.655000	0.94253	GGC		0.438	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			5	296	0	0	0	1	0	5	296				
ANKRD34A	284615	broad.mit.edu	37	1	145474664	145474664	+	Silent	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:145474664C>A	ENST00000323397.4	+	4	2629	c.1336C>A	c.(1336-1338)Cgg>Agg	p.R446R	LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	446	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCCGGAGGTCGGGCGCCTTC	0.642																																						ENST00000323397.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1336-1338)Cgg>Agg		ankyrin repeat domain 34A							21.0	23.0	22.0					1																	145474664		2202	4293	6495	SO:0001819	synonymous_variant	284615							g.chr1:145474664C>A	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1336C>A	1.37:g.145474664C>A							p.R446R	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN			4	2629	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		446			Pro-rich.		B3KSU3	Silent	SNP	ENST00000323397.4	37	c.1336C>A	CCDS30829.1																																																																																				0.642	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			8	44	1	0	1.76689e-08	1	2.03872e-08	8	44				
PLXNA4	91584	broad.mit.edu	37	7	131883287	131883287	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:131883287C>T	ENST00000359827.3	-	13	3657	c.2695G>A	c.(2695-2697)Gtg>Atg	p.V899M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V899M			Q9HCM2	PLXA4_HUMAN	plexin A4	899	IPT/TIG 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGCACTCCACGCCAGCAACC	0.577																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2695-2697)Gtg>Atg		plexin A4							70.0	72.0	71.0					7																	131883287		2011	4188	6199	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131883287C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2695G>A	7.37:g.131883287C>T	ENSP00000352882:p.Val899Met					PLXNA4_ENST00000321063.4_Missense_Mutation_p.V899M	p.V899M			Q9HCM2	PLXA4_HUMAN			13	3657	-			899			IPT/TIG 1.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2695G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393236	0.83011	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76578	-1.03;-1.03	5.42	5.42	0.78866	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.89259	0.3596	10	0.54805	T	0.06	.	19.4006	0.94627	0.0:1.0:0.0:0.0	.	899	Q9HCM2	PLXA4_HUMAN	M	899	ENSP00000323194:V899M;ENSP00000352882:V899M	ENSP00000323194:V899M	V	-	1	0	PLXNA4	131533827	1.000000	0.71417	0.987000	0.45799	0.626000	0.37791	7.651000	0.83577	2.820000	0.97059	0.650000	0.86243	GTG		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		3	103	0	0	0	1	0	3	103				
EPB42	2038	broad.mit.edu	37	15	43498583	43498583	+	Silent	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:43498583G>C	ENST00000441366.2	-	10	1788	c.1563C>G	c.(1561-1563)gtC>gtG	p.V521V	EPB42_ENST00000300215.3_Silent_p.V551V|EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Silent_p.V443V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	521					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGCAGCAAGGACACCGTTGT	0.582																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1651-1653)gtC>gtG		erythrocyte membrane protein band 4.2							153.0	122.0	132.0					15																	43498583		2203	4299	6502	SO:0001819	synonymous_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43498583G>C	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1563C>G	15.37:g.43498583G>C						EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Silent_p.V443V|EPB42_ENST00000441366.2_Silent_p.V521V	p.V551V			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	10	2110	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	521					Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	c.1653C>G	CCDS45249.1																																																																																				0.582	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		14	155	0	0	0	1	0	14	155				
MYO9B	4650	broad.mit.edu	37	19	17264804	17264804	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:17264804A>T	ENST00000594824.1	+	5	1173	c.1026A>T	c.(1024-1026)ttA>ttT	p.L342F	CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.L342F|MYO9B_ENST00000595618.1_Missense_Mutation_p.L342F|CTD-3032J10.2_ENST00000599360.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	342	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTATTTGTTACTTGGGGTCA	0.438																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(1024-1026)ttA>ttT		myosin IXB							114.0	113.0	114.0					19																	17264804		1884	4113	5997	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17264804A>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1026A>T	19.37:g.17264804A>T	ENSP00000471367:p.Leu342Phe					MYO9B_ENST00000594824.1_Missense_Mutation_p.L342F|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.L342F	p.L342F	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			5	1178	+			342			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.1026A>T		.	.	.	.	.	.	.	.	.	.	A	18.54	3.645598	0.67358	.	.	ENSG00000099331	ENST00000397274	D	0.91792	-2.91	5.15	-1.86	0.07760	Myosin head, motor domain (2);	0.000000	0.40302	N	0.001126	D	0.93592	0.7954	M	0.80616	2.505	0.37524	D	0.917639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.89531	0.3785	10	0.72032	D	0.01	.	2.4413	0.04495	0.3725:0.13:0.3704:0.1271	.	342;342;348	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	F	342	ENSP00000380444:L342F	ENSP00000380444:L342F	L	+	3	2	MYO9B	17125804	0.024000	0.19004	0.234000	0.24042	0.943000	0.58893	0.046000	0.14035	-0.338000	0.08413	0.459000	0.35465	TTA		0.438	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			5	139	0	0	0	1	0	5	139				
FOXRED2	80020	broad.mit.edu	37	22	36901978	36901978	+	Silent	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:36901978G>T	ENST00000397224.4	-	2	585	c.492C>A	c.(490-492)atC>atA	p.I164I	FOXRED2_ENST00000397223.4_Silent_p.I164I|FOXRED2_ENST00000216187.6_Silent_p.I164I	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	164					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGTCAGTTAGGATGAAGTAGT	0.607																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(490-492)atC>atA		FAD-dependent oxidoreductase domain containing 2							116.0	112.0	113.0					22																	36901978		2203	4300	6503	SO:0001819	synonymous_variant	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36901978G>T	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.492C>A	22.37:g.36901978G>T						FOXRED2_ENST00000397223.4_Silent_p.I164I|FOXRED2_ENST00000216187.6_Silent_p.I164I	p.I164I	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			2	585	-			164					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Silent	SNP	ENST00000397224.4	37	c.492C>A	CCDS13929.1																																																																																				0.607	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		5	252	1	0	1.23904e-05	1	1.34818e-05	5	252				
REV3L	5980	broad.mit.edu	37	6	111694794	111694794	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:111694794A>T	ENST00000358835.3	-	14	5218	c.4764T>A	c.(4762-4764)agT>agA	p.S1588R	REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R|REV3L_ENST00000435970.1_Missense_Mutation_p.S1510R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1588					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGTTTTGTACTTCTGGGAG	0.368								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(4528-4530)agT>agA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							176.0	184.0	181.0					6																	111694794		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694794A>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4764T>A	6.37:g.111694794A>T	ENSP00000351697:p.Ser1588Arg					REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R|REV3L_ENST00000358835.3_Missense_Mutation_p.S1588R	p.S1510R			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5346	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1588					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4530T>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	8.135	0.783964	0.16189	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01538	4.88;4.88;4.88;4.79	6.04	4.86	0.63082	Ribonuclease H-like (1);	0.338132	0.33534	N	0.004805	T	0.00524	0.0017	N	0.25647	0.755	0.24738	N	0.993058	B	0.11235	0.004	B	0.06405	0.002	T	0.50021	-0.8876	10	0.33141	T	0.24	-0.7701	5.553	0.17101	0.7325:0.0:0.1342:0.1333	.	1588	O60673	DPOLZ_HUMAN	R	1588;1588;1588;1510	ENSP00000357792:S1588R;ENSP00000357795:S1588R;ENSP00000351697:S1588R;ENSP00000402003:S1510R	ENSP00000351697:S1588R	S	-	3	2	REV3L	111801487	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	2.554000	0.45845	1.065000	0.40693	0.460000	0.39030	AGT		0.368	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		8	245	0	0	0	1	0	8	245				
FBN1	2200	broad.mit.edu	37	15	48703292	48703292	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:48703292A>T	ENST00000316623.5	-	66	8966	c.8511T>A	c.(8509-8511)taT>taA	p.Y2837*	FBN1_ENST00000561429.1_5'Flank	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2837					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTTTCTTTTTATAAAGTGGAG	0.378																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(8509-8511)taT>taA		fibrillin 1							121.0	123.0	122.0					15																	48703292		2198	4297	6495	SO:0001587	stop_gained	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48703292A>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8511T>A	15.37:g.48703292A>T	ENSP00000325527:p.Tyr2837*						p.Y2837*	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	66	8966	-		all_lung(180;0.00279)	2837					B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	ENST00000316623.5	37	c.8511T>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	50	16.900373	0.99874	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.57	0.748	0.18376	.	0.061265	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0373	0.36296	0.6295:0.0:0.3705:0.0	.	.	.	.	X	2837	.	ENSP00000325527:Y2837X	Y	-	3	2	FBN1	46490584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.265000	0.33027	0.154000	0.19237	0.528000	0.53228	TAT		0.378	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			4	126	0	0	0	1	0	4	126				
AMBP	259	broad.mit.edu	37	9	116823210	116823210	+	Missense_Mutation	SNP	C	C	G	rs150141433		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:116823210C>G	ENST00000265132.3	-	9	1284	c.1022G>C	c.(1021-1023)gGt>gCt	p.G341A		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	341					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCTACCATCACCAGGGACACC	0.632																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(1021-1023)gGt>gCt		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	C	ALA/GLY	1,4405		0,1,2202	108.0	113.0	111.0		1022	6.1	0.9	9	dbSNP_134	111	0,8600		0,0,4300	no	missense	AMBP	NM_001633.3	60	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	341/353	116823210	1,13005	2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116823210C>G	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.1022G>C	9.37:g.116823210C>G	ENSP00000265132:p.Gly341Ala						p.G341A	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			9	1284	-			341					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.1022G>C	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222811	0.58668	2.27E-4	0.0	ENSG00000106927	ENST00000265132	T	0.28666	1.6	6.08	6.08	0.98989	.	0.437008	0.27876	N	0.017487	T	0.30603	0.0770	L	0.47716	1.5	0.80722	D	1	D	0.53151	0.958	B	0.44224	0.444	T	0.02781	-1.1111	10	0.54805	T	0.06	.	11.4227	0.49991	0.0:0.9189:0.0:0.0811	.	341	P02760	AMBP_HUMAN	A	341	ENSP00000265132:G341A	ENSP00000265132:G341A	G	-	2	0	AMBP	115863031	0.365000	0.25006	0.947000	0.38551	0.988000	0.76386	2.508000	0.45450	2.894000	0.99253	0.655000	0.94253	GGT		0.632	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		3	146	0	0	0	1	0	3	146				
MTOR	2475	broad.mit.edu	37	1	11308051	11308051	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:11308051G>T	ENST00000361445.4	-	7	1017	c.941C>A	c.(940-942)aCc>aAc	p.T314N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	314	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGTGAAGGGGGTAATGTGACG	0.532																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(940-942)aCc>aAc		mechanistic target of rapamycin (serine/threonine kinase)							107.0	109.0	109.0					1																	11308051		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11308051G>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.941C>A	1.37:g.11308051G>T	ENSP00000354558:p.Thr314Asn						p.T314N	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			7	1017	-			314					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.941C>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289009	0.59976	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.07688	3.17	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	L	0.44542	1.39	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.00334	-1.1809	10	0.27082	T	0.32	-5.2287	20.2594	0.98436	0.0:0.0:1.0:0.0	.	314	P42345	MTOR_HUMAN	N	314	ENSP00000354558:T314N	ENSP00000354558:T314N	T	-	2	0	MTOR	11230638	1.000000	0.71417	0.917000	0.36280	0.938000	0.57974	9.430000	0.97488	2.784000	0.95788	0.644000	0.83932	ACC		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		11	175	1	0	1.58986e-06	1	1.78541e-06	11	175				
LYSMD1	388695	broad.mit.edu	37	1	151134308	151134308	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:151134308T>A	ENST00000368908.5	-	2	1109	c.449A>T	c.(448-450)cAt>cTt	p.H150L	LYSMD1_ENST00000440902.2_Missense_Mutation_p.H102L	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	150										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGAGAGGTCATGGATGGGCGT	0.527																																						ENST00000368908.5																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(448-450)cAt>cTt		LysM, putative peptidoglycan-binding, domain containing 1							175.0	165.0	169.0					1																	151134308		2203	4300	6503	SO:0001583	missense	388695				cell wall macromolecule catabolic process			g.chr1:151134308T>A	BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.449A>T	1.37:g.151134308T>A	ENSP00000357904:p.His150Leu					LYSMD1_ENST00000440902.2_Missense_Mutation_p.H102L	p.H150L	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	1109	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		150					B4DQA1|Q69YX9	Missense_Mutation	SNP	ENST00000368908.5	37	c.449A>T	CCDS986.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801214	0.70567	.	.	ENSG00000163155	ENST00000368908;ENST00000440902	T;T	0.30714	1.55;1.52	5.76	4.6	0.57074	.	0.700864	0.14209	N	0.334193	T	0.17450	0.0419	M	0.63428	1.95	0.30690	N	0.751432	P;B	0.36837	0.571;0.18	B;B	0.36289	0.221;0.034	T	0.08722	-1.0708	10	0.72032	D	0.01	-16.9754	10.704	0.45944	0.0:0.0:0.1602:0.8398	.	102;150	Q96S90-2;Q96S90	.;LYSM1_HUMAN	L	150;102	ENSP00000357904:H150L;ENSP00000404059:H102L	ENSP00000357904:H150L	H	-	2	0	LYSMD1	149400932	0.996000	0.38824	0.393000	0.26258	0.970000	0.65996	3.150000	0.50662	0.954000	0.37851	0.482000	0.46254	CAT		0.527	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3	NM_212551		8	448	0	0	0	1	0	8	448				
IER3	8870	broad.mit.edu	37	6	30708318	30708318	+	IGR	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:30708318A>C	ENST00000259874.5	-	0	1244				FLOT1_ENST00000376389.3_Missense_Mutation_p.D175E|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_Missense_Mutation_p.D127E|FLOT1_ENST00000470643.1_5'UTR	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						CAATCCGTGCATCTTTTTGGA	0.507																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(523-525)gaT>gaG		flotillin 1							116.0	109.0	112.0					6																	30708318		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30708318A>C	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30708318A>C						FLOT1_ENST00000456573.2_Missense_Mutation_p.D127E|FLOT1_ENST00000470643.1_5'UTR	p.D175E	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			7	745	-			175					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.525T>G	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863400	0.71949	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165;ENST00000438162;ENST00000418160;ENST00000445853;ENST00000416018;ENST00000454845	D;D;D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	4.56	0.836	0.18891	.	0.112499	0.64402	D	0.000014	D	0.88629	0.6488	L	0.53671	1.685	0.44207	D	0.997038	P;P	0.45396	0.857;0.685	P;P	0.53689	0.732;0.629	D	0.86586	0.1857	10	0.59425	D	0.04	-7.0811	7.576	0.27937	0.7308:0.0:0.2692:0.0	.	127;175	B4DVY7;O75955	.;FLOT1_HUMAN	E	175;127;112;175;80;175;159;175	ENSP00000365569:D175E;ENSP00000394375:D127E;ENSP00000395333:D112E;ENSP00000400615:D175E;ENSP00000398834:D175E;ENSP00000412058:D159E;ENSP00000391341:D175E	ENSP00000365569:D175E	D	-	3	2	FLOT1	30816297	0.899000	0.30636	1.000000	0.80357	0.993000	0.82548	0.076000	0.14712	0.302000	0.22762	0.533000	0.62120	GAT		0.507	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			3	65	0	0	0	1	0	3	65				
GRIK3	2899	broad.mit.edu	37	1	37271845	37271845	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:37271845C>A	ENST00000373091.3	-	14	2190	c.2174G>T	c.(2173-2175)gGc>gTc	p.G725V	GRIK3_ENST00000373093.4_Missense_Mutation_p.G725V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	725					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCTCTGGATGCCCTCCTCGTT	0.607																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(2173-2175)gGc>gTc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						140.0	117.0	125.0					1																	37271845		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271845C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2174G>T	1.37:g.37271845C>A	ENSP00000362183:p.Gly725Val					GRIK3_ENST00000373093.4_Missense_Mutation_p.G725V	p.G725V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			14	2190	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	725					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.2174G>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960676	0.92791	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.12255	2.7;2.7	5.48	5.48	0.80851	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66368	-0.5941	10	0.87932	D	0	.	19.3336	0.94306	0.0:1.0:0.0:0.0	.	725;725	A9Z1Z8;Q13003	.;GRIK3_HUMAN	V	725	ENSP00000362183:G725V;ENSP00000362185:G725V	ENSP00000362183:G725V	G	-	2	0	GRIK3	37044432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.757000	0.85209	2.566000	0.86566	0.549000	0.68633	GGC		0.607	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		15	132	1	0	8.00594e-06	1	8.84867e-06	15	132				
C2CD3	26005	broad.mit.edu	37	11	73850649	73850649	+	Splice_Site	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:73850649C>T	ENST00000334126.7	-	4	934		c.e4+1		C2CD3_ENST00000539061.1_Splice_Site|C2CD3_ENST00000313663.7_Splice_Site			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3						brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATGGTAATTACCTCGGAGTGG	0.408																																						ENST00000334126.7																			2	Unknown(2)	p.?(2)	kidney(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.e4+1		C2 calcium-dependent domain containing 3							292.0	289.0	290.0					11																	73850649		2200	4293	6493	SO:0001630	splice_region_variant	26005					centrosome		g.chr11:73850649C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.707+1G>A	11.37:g.73850649C>T						C2CD3_ENST00000313663.7_Splice_Site|C2CD3_ENST00000539061.1_Splice_Site				Q4AC94	C2CD3_HUMAN			4	934	-	Breast(11;4.16e-06)							C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Splice_Site	SNP	ENST00000334126.7	37			.	.	.	.	.	.	.	.	.	.	C	14.69	2.611338	0.46631	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7792	0.63073	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C2CD3	73528297	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	4.890000	0.63178	2.631000	0.89168	0.644000	0.83932	.		0.408	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	Intron	142	621	0	0	0	1	0	142	621				
SLIT2	9353	broad.mit.edu	37	4	20552448	20552448	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:20552448A>T	ENST00000504154.1	+	25	2741		c.e25-1		SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTTCTTTTAGTTCTCTACA	0.313																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.e25-1		slit homolog 2 (Drosophila)							126.0	119.0	122.0					4																	20552448		2202	4300	6502	SO:0001630	splice_region_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20552448A>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2490-1A>T	4.37:g.20552448A>T						SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000509394.2_Splice_Site		NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			25	2741	+								B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	ENST00000504154.1	37		CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275572	0.59649	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20161546	1.000000	0.71417	0.916000	0.36221	0.476000	0.33039	9.200000	0.95010	2.367000	0.80283	0.528000	0.53228	.		0.313	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Intron	4	89	0	0	0	1	0	4	89				
FLNB	2317	broad.mit.edu	37	3	58120374	58120374	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:58120374G>T	ENST00000295956.4	+	27	4711	c.4546G>T	c.(4546-4548)Gat>Tat	p.D1516Y	FLNB_ENST00000493452.1_Missense_Mutation_p.D1347Y|FLNB_ENST00000490882.1_Missense_Mutation_p.D1547Y|FLNB_ENST00000429972.2_Missense_Mutation_p.D1516Y|FLNB_ENST00000358537.3_Missense_Mutation_p.D1516Y|FLNB_ENST00000357272.4_Missense_Mutation_p.D1516Y|FLNB_ENST00000419752.2_Missense_Mutation_p.D1347Y|FLNB_ENST00000348383.5_Missense_Mutation_p.D1516Y	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1516					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCCACATATGATGCCAGCAA	0.512																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(4546-4548)Gat>Tat		filamin B, beta							195.0	182.0	186.0					3																	58120374		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58120374G>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4546G>T	3.37:g.58120374G>T	ENSP00000295956:p.Asp1516Tyr					FLNB_ENST00000419752.2_Missense_Mutation_p.D1347Y|FLNB_ENST00000429972.2_Missense_Mutation_p.D1516Y|FLNB_ENST00000348383.5_Missense_Mutation_p.D1516Y|FLNB_ENST00000358537.3_Missense_Mutation_p.D1516Y|FLNB_ENST00000295956.4_Missense_Mutation_p.D1516Y|FLNB_ENST00000490882.1_Missense_Mutation_p.D1547Y|FLNB_ENST00000493452.1_Missense_Mutation_p.D1347Y	p.D1516Y			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	27	4711	+			1516					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.4546G>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972790	0.92919	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.81	5.81	0.92471	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	H	0.95745	3.715	0.80722	D	1	D;D;D;D;D;D	0.89917	0.986;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.91635	0.936;0.999;0.991;0.984;0.988;0.988	D	0.97128	0.9816	10	0.87932	D	0	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	1516;1547;1347;1347;1516;1516	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	Y	1516;1547;1516;1516;1516;1516;1347;1347	ENSP00000295956:D1516Y;ENSP00000420213:D1547Y;ENSP00000351339:D1516Y;ENSP00000415599:D1516Y;ENSP00000232447:D1516Y;ENSP00000349819:D1516Y;ENSP00000418510:D1347Y;ENSP00000414532:D1347Y	ENSP00000295956:D1516Y	D	+	1	0	FLNB	58095414	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.799000	0.99117	2.738000	0.93877	0.655000	0.94253	GAT		0.512	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		5	244	1	0	1.23904e-05	1	1.34818e-05	5	244				
PRPF3	9129	broad.mit.edu	37	1	150312902	150312902	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:150312902T>C	ENST00000324862.6	+	9	1396	c.1231T>C	c.(1231-1233)Tat>Cat	p.Y411H	PRPF3_ENST00000543398.1_Missense_Mutation_p.L274S|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.Y362H	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	411					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GAGAGAAGATTATTTTGGAAT	0.388																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1231-1233)Tat>Cat		pre-mRNA processing factor 3							84.0	78.0	80.0					1																	150312902		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150312902T>C	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1231T>C	1.37:g.150312902T>C	ENSP00000315379:p.Tyr411His					PRPF3_ENST00000414970.2_Missense_Mutation_p.Y362H|PRPF3_ENST00000543398.1_Missense_Mutation_p.L274S|PRPF3_ENST00000467329.1_3'UTR	p.Y411H	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	9	1396	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		411					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.1231T>C	CCDS951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.60|13.60	2.285019|2.285019	0.40394|0.40394	.|.	.|.	ENSG00000117360|ENSG00000117360	ENST00000543398|ENST00000324862;ENST00000414970	.|D;D	.|0.85339	.|-1.97;-1.97	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Pre-mRNA-splicing factor 3 (1);	.|0.280165	.|0.39615	.|N	.|0.001317	T|T	0.67392|0.67392	0.2888|0.2888	L|L	0.41824|0.41824	1.3|1.3	0.26556|0.26556	N|N	0.973814|0.973814	.|B;B	.|0.13594	.|0.008;0.008	.|B;B	.|0.23716	.|0.027;0.048	T|T	0.53507|0.53507	-0.8429|-0.8429	6|10	0.87932|0.13470	D|T	0|0.59	-8.8837|-8.8837	15.5833|15.5833	0.76462|0.76462	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|362;411	.|E7EVD1;O43395	.|.;PRPF3_HUMAN	S|H	274|411;362	.|ENSP00000315379:Y411H;ENSP00000387844:Y362H	ENSP00000445421:L274S|ENSP00000315379:Y411H	L|Y	+|+	2|1	0|0	PRPF3|PRPF3	148579526|148579526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.623000|6.623000	0.74238|0.74238	2.164000|2.164000	0.68074|0.68074	0.454000|0.454000	0.30748|0.30748	TTA|TAT		0.388	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		5	44	0	0	0	1	0	5	44				
UGT3A1	133688	broad.mit.edu	37	5	35957371	35957371	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:35957371G>T	ENST00000274278.3	-	5	1351	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.Q332K|UGT3A1_ENST00000507113.1_Missense_Mutation_p.Q298K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	332						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGAACTCTGACATGTCCAT	0.502																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(994-996)Cag>Aag		UDP glycosyltransferase 3 family, polypeptide A1							129.0	107.0	115.0					5																	35957371		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35957371G>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.994C>A	5.37:g.35957371G>T	ENSP00000274278:p.Gln332Lys					UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.Q298K|UGT3A1_ENST00000503189.1_Missense_Mutation_p.Q332K	p.Q332K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1351	-	all_lung(31;0.000197)		332					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.994C>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.602997	0.00123	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.60171	0.21;0.21;0.21	3.01	0.242	0.15498	.	0.552403	0.18007	N	0.154709	T	0.23965	0.0580	N	0.02539	-0.55	0.09310	N	0.999999	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.12156	0.007;0.006;0.006	T	0.30765	-0.9967	10	0.02654	T	1	.	10.1145	0.42583	0.0:0.0:0.701:0.299	.	298;332;332	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	K	332;332;298	ENSP00000274278:Q332K;ENSP00000427079:Q332K;ENSP00000426100:Q298K	ENSP00000274278:Q332K	Q	-	1	0	UGT3A1	35993128	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	0.069000	0.14552	0.344000	0.23847	0.467000	0.42956	CAG		0.502	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		4	143	1	0	0.150653	1	0.152837	4	143				
DQX1	165545	broad.mit.edu	37	2	74745642	74745642	+	Missense_Mutation	SNP	C	C	T	rs554672292		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:74745642C>T	ENST00000404568.3	-	12	2304	c.2085G>A	c.(2083-2085)atG>atA	p.M695I	DQX1_ENST00000393951.2_Missense_Mutation_p.M695I	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	695						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.M577I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TAGAATCTGCCATTCCTTCCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		21939	0.0		0.0	False		,,,				2504	0.001					ENST00000404568.3																			1	Substitution - Missense(1)	p.M577I(1)	kidney(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(2083-2085)atG>atA		DEAQ box RNA-dependent ATPase 1							154.0	136.0	142.0					2																	74745642		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74745642C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.2085G>A	2.37:g.74745642C>T	ENSP00000384621:p.Met695Ile					DQX1_ENST00000393951.2_Missense_Mutation_p.M695I	p.M695I	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			12	2304	-			695					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.2085G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912987	0.33815	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02631	4.22;4.22	5.0	4.11	0.48088	.	0.386721	0.23414	N	0.048438	T	0.03220	0.0094	L	0.40543	1.245	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.36212	-0.9757	10	0.51188	T	0.08	.	8.5073	0.33195	0.0:0.8892:0.0:0.1108	.	695	Q8TE96	DQX1_HUMAN	I	695	ENSP00000377523:M695I;ENSP00000384621:M695I	ENSP00000377523:M695I	M	-	3	0	DQX1	74599150	0.012000	0.17670	0.819000	0.32651	0.801000	0.45260	1.097000	0.30988	1.059000	0.40554	0.563000	0.77884	ATG		0.532	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		44	60	0	0	0	1	0	44	60				
PLCZ1	89869	broad.mit.edu	37	12	18847883	18847883	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:18847883A>T	ENST00000538330.1	-	8	1149	c.768T>A	c.(766-768)agT>agA	p.S256R	PLCZ1_ENST00000539875.1_Missense_Mutation_p.S281R|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.S472R|PLCZ1_ENST00000542762.1_5'Flank|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S279R|PLCZ1_ENST00000266505.7_Missense_Mutation_p.S474R|PLCZ1_ENST00000541695.1_Missense_Mutation_p.S337R					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTTATGTTACTTGGGTTAA	0.289																																						ENST00000447925.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1414-1416)agT>agA		phospholipase C, zeta 1							73.0	75.0	74.0					12																	18847883		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18847883A>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.768T>A	12.37:g.18847883A>T	ENSP00000445880:p.Ser256Arg					PLCZ1_ENST00000435379.1_Missense_Mutation_p.S279R|PLCZ1_ENST00000541695.1_Missense_Mutation_p.S337R|PLCZ1_ENST00000538330.1_Missense_Mutation_p.S256R|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S281R|PLCZ1_ENST00000266505.7_Missense_Mutation_p.S474R	p.S472R	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			12	1685	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		474			C2.			Missense_Mutation	SNP	ENST00000538330.1	37	c.1416T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.435|6.435	0.448477|0.448477	0.12223|0.12223	.|.	.|.	ENSG00000139151|ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421|ENST00000536023	T;T;T;T;T;T;T|.	0.62788|.	-0.0;2.13;2.13;-0.0;1.61;-0.0;-0.0|.	5.09|5.09	2.56|2.56	0.30785|0.30785	C2 membrane targeting protein (1);PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);|.	0.787160|.	0.11950|.	N|.	0.513763|.	T|.	0.10423|.	0.0255|.	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.15473|.	0.001;0.013|.	B;B|.	0.09377|.	0.002;0.004|.	T|.	0.21177|.	-1.0253|.	10|.	0.13853|.	T|.	0.58|.	.|.	0.8061|0.8061	0.01084|0.01084	0.4924:0.1667:0.1806:0.1603|0.4924:0.1667:0.1806:0.1603	.|.	474;256|.	Q86YW0;Q8N7S5|.	PLCZ1_HUMAN;.|.	R|K	256;474;472;279;337;281;209|44	ENSP00000445880:S256R;ENSP00000266505:S474R;ENSP00000402358:S472R;ENSP00000400504:S279R;ENSP00000443349:S337R;ENSP00000445026:S281R;ENSP00000445889:S209R|.	ENSP00000266505:S474R|.	S|X	-|-	3|1	2|0	PLCZ1|PLCZ1	18739150|18739150	0.000000|0.000000	0.05858|0.05858	0.042000|0.042000	0.18584|0.18584	0.063000|0.063000	0.16089|0.16089	0.609000|0.609000	0.24238|0.24238	0.778000|0.778000	0.33520|0.33520	0.260000|0.260000	0.18958|0.18958	AGT|TAA		0.289	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		6	133	0	0	0	1	0	6	133				
SPAG9	9043	broad.mit.edu	37	17	49098649	49098649	+	Silent	SNP	T	T	C	rs373565315		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:49098649T>C	ENST00000262013.7	-	7	1069	c.861A>G	c.(859-861)acA>acG	p.T287T	SPAG9_ENST00000505279.1_Silent_p.T273T|SPAG9_ENST00000357122.4_Silent_p.T273T|SPAG9_ENST00000510283.1_Silent_p.T130T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	287					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.T273T(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CAGTAGGAATTGTTGCCACAT	0.378																																						ENST00000262013.7																			1	Substitution - coding silent(1)	p.T273T(1)	kidney(1)	NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(859-861)acA>acG		sperm associated antigen 9		T	,	0,4406		0,0,2203	186.0	175.0	178.0		861,819	0.9	0.0	17		178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPAG9	NM_001130528.2,NM_003971.5	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	287/1322,273/1308	49098649	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49098649T>C	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.861A>G	17.37:g.49098649T>C						SPAG9_ENST00000510283.1_Silent_p.T130T|SPAG9_ENST00000505279.1_Silent_p.T273T|SPAG9_ENST00000357122.4_Silent_p.T273T	p.T287T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		7	1069	-			287					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	37	c.861A>G	CCDS45740.1																																																																																				0.378	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		58	191	0	0	0	1	0	58	191				
ZNF395	55893	broad.mit.edu	37	8	28209093	28209093	+	Silent	SNP	C	C	T	rs145491469	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:28209093C>T	ENST00000344423.5	-	7	1283	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	ZNF395_ENST00000523202.1_Silent_p.P384P|ZNF395_ENST00000523095.1_Silent_p.P384P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGAGGACTCCGGGCCAGGAT	0.642													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18341	0.0		0.0	False		,,,				2504	0.0					ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1150-1152)ccG>ccA		zinc finger protein 395		C		8,4398	11.4+/-27.6	1,6,2196	62.0	73.0	69.0		1152	3.7	1.0	8	dbSNP_134	69	0,8598		0,0,4299	no	coding-synonymous	ZNF395	NM_018660.2		1,6,6495	TT,TC,CC		0.0,0.1816,0.0615		384/514	28209093	8,12996	2203	4299	6502	SO:0001819	synonymous_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28209093C>T	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1152G>A	8.37:g.28209093C>T						ZNF395_ENST00000523202.1_Silent_p.P384P|ZNF395_ENST00000523095.1_Silent_p.P384P	p.P384P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	1283	-		Ovarian(32;2.06e-05)	384					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	c.1152G>A	CCDS6067.1																																																																																				0.642	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			5	85	0	0	0	1	0	5	85				
WIZ	58525	broad.mit.edu	37	19	15537959	15537959	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:15537959C>A	ENST00000389282.4	-	6	3699	c.3486G>T	c.(3484-3486)aaG>aaT	p.K1162N	WIZ_ENST00000545156.1_Missense_Mutation_p.K476N|WIZ_ENST00000599910.2_Missense_Mutation_p.K479N|WIZ_ENST00000263381.7_Missense_Mutation_p.K305N|WIZ_ENST00000599686.3_Missense_Mutation_p.K346N			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1162	Pro-rich.				positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K476N(1)|p.K305N(1)|p.K1162N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTGGGAACATCTTTCGGGCCG	0.622																																						ENST00000389282.4																			3	Substitution - Missense(3)	p.K476N(1)|p.K305N(1)|p.K1162N(1)	kidney(3)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(3484-3486)aaG>aaT		widely interspaced zinc finger motifs							43.0	48.0	46.0					19																	15537959		1992	4159	6151	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15537959C>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3486G>T	19.37:g.15537959C>A	ENSP00000373933:p.Lys1162Asn					WIZ_ENST00000599910.1_Missense_Mutation_p.K479N|WIZ_ENST00000599686.2_Missense_Mutation_p.K346N|WIZ_ENST00000545156.1_Missense_Mutation_p.K476N|WIZ_ENST00000263381.6_Missense_Mutation_p.K305N	p.K1162N			O95785	WIZ_HUMAN			6	3699	-			1162			Pro-rich.		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.3486G>T		.	.	.	.	.	.	.	.	.	.	C	18.77	3.694185	0.68386	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.32272	1.46;1.46;1.46	5.51	4.46	0.54185	.	0.231795	0.40064	N	0.001191	T	0.36386	0.0965	N	0.24115	0.695	0.32919	D	0.515583	D;D;D	0.89917	1.0;0.999;0.964	D;D;P	0.76575	0.96;0.988;0.554	T	0.48927	-0.8991	10	0.54805	T	0.06	-34.5618	7.2325	0.26051	0.0:0.7301:0.0:0.2699	.	1162;305;346	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	N	1162;305;346;476	ENSP00000373933:K1162N;ENSP00000263381:K305N;ENSP00000445824:K476N	ENSP00000263381:K305N	K	-	3	2	WIZ	15398959	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.748000	0.38308	1.261000	0.44149	0.561000	0.74099	AAG		0.622	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		3	27	1	0	0.115264	1	0.117502	3	27				
PIAS1	8554	broad.mit.edu	37	15	68438152	68438152	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:68438152A>T	ENST00000249636.6	+	5	750		c.e5-1		PIAS1_ENST00000545237.1_Splice_Site	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1						androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TTTATTGTTTAGGTTTTGTTT	0.308																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.e6-1		protein inhibitor of activated STAT, 1							101.0	95.0	97.0					15																	68438152		1810	4065	5875	SO:0001630	splice_region_variant	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68438152A>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.603-1A>T	15.37:g.68438152A>T						PIAS1_ENST00000249636.6_Splice_Site				O75925	PIAS1_HUMAN			6	1349	+								B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Splice_Site	SNP	ENST00000249636.6	37		CCDS45290.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.650681	0.67472	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2813	0.82687	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIAS1	66225206	1.000000	0.71417	0.998000	0.56505	0.749000	0.42624	9.274000	0.95731	2.244000	0.73946	0.533000	0.62120	.		0.308	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2		Intron	4	103	0	0	0	1	0	4	103				
NCKAP1	10787	broad.mit.edu	37	2	183817923	183817923	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:183817923C>G	ENST00000361354.4	-	21	2662	c.2290G>C	c.(2290-2292)Gta>Cta	p.V764L	NCKAP1_ENST00000360982.2_Missense_Mutation_p.V770L	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	764					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTATTAAATACTCTTGTAATA	0.348																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(2308-2310)Gta>Cta		NCK-associated protein 1							131.0	126.0	128.0					2																	183817923		2202	4300	6502	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183817923C>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2290G>C	2.37:g.183817923C>G	ENSP00000355348:p.Val764Leu					NCKAP1_ENST00000361354.3_Missense_Mutation_p.V764L	p.V770L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		22	3066	-			764					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2308G>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970711	0.53614	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.33654	1.4;1.4	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	L	0.42686	1.345	0.80722	D	1	B;B	0.16396	0.017;0.013	B;B	0.21708	0.036;0.021	T	0.12578	-1.0542	10	0.16420	T	0.52	-17.8045	20.8794	0.99867	0.0:1.0:0.0:0.0	.	764;770	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	L	764;770	ENSP00000355348:V764L;ENSP00000354251:V770L	ENSP00000354251:V770L	V	-	1	0	NCKAP1	183526168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GTA		0.348	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		4	112	0	0	0	1	0	4	112				
SOAT1	6646	broad.mit.edu	37	1	179319429	179319429	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:179319429A>T	ENST00000367619.3	+	14	1457		c.e14-1		SOAT1_ENST00000539888.1_Splice_Site|SOAT1_ENST00000535686.1_Splice_Site|SOAT1_ENST00000540564.1_Splice_Site	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1						cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTTTCTTTAGTTTTTCTCC	0.333																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.e14-1		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						122.0	112.0	115.0					1																	179319429		2203	4300	6503	SO:0001630	splice_region_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179319429A>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1315-1A>T	1.37:g.179319429A>T						SOAT1_ENST00000539888.1_Splice_Site|SOAT1_ENST00000535686.1_Splice_Site|SOAT1_ENST00000540564.1_Splice_Site		NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			14	1457	+								A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Splice_Site	SNP	ENST00000367619.3	37		CCDS1330.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.668872	0.29604	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	.	.	.	5.51	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4654	0.44604	0.7419:0.2581:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SOAT1	177586052	1.000000	0.71417	0.901000	0.35422	0.560000	0.35617	5.599000	0.67592	2.217000	0.71921	0.482000	0.46254	.		0.333	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101	Intron	5	112	0	0	0	1	0	5	112				
A2ML1	144568	broad.mit.edu	37	12	8998036	8998036	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:8998036A>T	ENST00000299698.7	+	13	1656		c.e13-1		A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Splice_Site	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTCTTCTTTAGTTAATAGGG	0.428																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.e13-1		alpha-2-macroglobulin-like 1							74.0	73.0	73.0					12																	8998036		1867	4096	5963	SO:0001630	splice_region_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8998036A>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1477-1A>T	12.37:g.8998036A>T						A2ML1_ENST00000539547.1_Splice_Site|A2ML1_ENST00000540049.1_3'UTR		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			13	1656	+									Splice_Site	SNP	ENST00000299698.7	37		CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286896	0.40494	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000536789;ENST00000539547;ENST00000545692	.	.	.	4.0	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9493	0.24536	0.804:0.0:0.196:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	A2ML1	8889303	1.000000	0.71417	0.856000	0.33681	0.964000	0.63967	4.210000	0.58500	0.884000	0.36064	0.459000	0.35465	.		0.428	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	Intron	5	161	0	0	0	1	0	5	161				
SMARCC2	6601	broad.mit.edu	37	12	56571836	56571836	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:56571836T>A	ENST00000267064.4	-	15	1438	c.1352A>T	c.(1351-1353)aAc>aTc	p.N451I	SMARCC2_ENST00000394023.3_Missense_Mutation_p.N451I|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N451I|SMARCC2_ENST00000347471.4_Missense_Mutation_p.N451I|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	451	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCTTGCCGTTGAAGAACTC	0.507																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1351-1353)aAc>aTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							156.0	144.0	148.0					12																	56571836		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56571836T>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1352A>T	12.37:g.56571836T>A	ENSP00000267064:p.Asn451Ile					SMARCC2_ENST00000347471.4_Missense_Mutation_p.N451I|SMARCC2_ENST00000267064.4_Missense_Mutation_p.N451I|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N451I	p.N451I	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		15	1457	-			451			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1352A>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367997	0.82463	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.55930	0.49;0.5;0.51	4.08	4.08	0.47627	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	M	0.88775	2.98	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.997;0.999;0.997	D;D;D;D;D	0.85130	0.997;0.991;0.995;0.997;0.991	T	0.80725	-0.1254	10	0.87932	D	0	-20.0567	13.0014	0.58679	0.0:0.0:0.0:1.0	.	340;451;456;451;451	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	I	451	ENSP00000449396:N451I;ENSP00000302919:N451I;ENSP00000267064:N451I	ENSP00000267064:N451I	N	-	2	0	SMARCC2	54858103	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	7.594000	0.82698	2.087000	0.62958	0.533000	0.62120	AAC		0.507	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			3	57	0	0	0	1	0	3	57				
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.e7-2		prolyl endopeptidase	Oxytocin(DB00107)						79.0	86.0	84.0					6																	105800954		2203	4300	6503	SO:0001630	splice_region_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800954T>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.718-2A>T	6.37:g.105800954T>A								NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			7	910	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)						Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37		CCDS5053.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404919	0.62288	.	.	ENSG00000085377	ENST00000369110	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9901	0.71381	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREP	105907647	1.000000	0.71417	0.960000	0.40013	0.657000	0.38888	4.794000	0.62482	2.240000	0.73641	0.533000	0.62120	.		0.343	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Intron	4	75	0	0	0	1	0	4	75				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	63	0	0	0	1	0	3	63				
FUT6	2528	broad.mit.edu	37	19	5831521	5831521	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:5831521C>T	ENST00000318336.4	-	3	2252	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	353					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGCCGCTATGCCGCGTGTCTG	0.632																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(1057-1059)gGc>gAc		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							70.0	80.0	77.0					19																	5831521		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5831521C>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.1058G>A	19.37:g.5831521C>T	ENSP00000313398:p.Gly353Asp					FUT6_ENST00000592563.1_Intron|FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D	p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	2252	-			353					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.1058G>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544153	0.27563	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	3.23	3.23	0.37069	.	.	.	.	.	T	0.04634	0.0126	N	0.00182	-1.905	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	9	0.06236	T	0.91	.	12.6777	0.56903	0.0:1.0:0.0:0.0	.	353	P51993	FUT6_HUMAN	D	353	ENSP00000431708:G353D;ENSP00000432954:G353D;ENSP00000313398:G353D;ENSP00000286955:G353D	ENSP00000286955:G353D	G	-	2	0	FUT6	5782521	0.004000	0.15560	0.326000	0.25389	0.012000	0.07955	0.883000	0.28200	1.743000	0.51761	0.436000	0.28706	GGC		0.632	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		3	57	0	0	0	1	0	3	57				
MTFR1	9650	broad.mit.edu	37	8	66621209	66621209	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:66621209A>T	ENST00000262146.4	+	8	1059		c.e8-1		MTFR1_ENST00000458689.2_Splice_Site	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1						aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GTTTGTTTCTAGTTTGGGCCA	0.403																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.e8-1		mitochondrial fission regulator 1							119.0	130.0	126.0					8																	66621209		2203	4300	6503	SO:0001630	splice_region_variant	9650					mitochondrion|plasma membrane		g.chr8:66621209A>T		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.934-1A>T	8.37:g.66621209A>T						MTFR1_ENST00000458689.2_Splice_Site		NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		8	1059	+								E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Splice_Site	SNP	ENST00000262146.4	37		CCDS6182.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638666	0.47153	.	.	ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689;ENST00000518800	.	.	.	4.11	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.912	0.41411	0.9131:0.0:0.0869:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTFR1	66783763	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.010000	0.88615	1.866000	0.54105	0.533000	0.62120	.		0.403	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637	Intron	4	117	0	0	0	1	0	4	117				
C16orf87	388272	broad.mit.edu	37	16	46865045	46865045	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:46865045G>A	ENST00000285697.4	-	1	278	c.17C>T	c.(16-18)gCc>gTc	p.A6V	C16orf87_ENST00000564250.1_5'Flank|C16orf87_ENST00000394806.2_Missense_Mutation_p.A6V	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	6										large_intestine(4)|urinary_tract(1)	5						CACTTTCTTGGCTCGAGTTGC	0.711																																						ENST00000394806.2																			0				large_intestine(4)|urinary_tract(1)	5						c.(16-18)gCc>gTc		chromosome 16 open reading frame 87							63.0	57.0	59.0					16																	46865045		2203	4300	6503	SO:0001583	missense	388272							g.chr16:46865045G>A		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.17C>T	16.37:g.46865045G>A	ENSP00000285697:p.Ala6Val					C16orf87_ENST00000285697.4_Missense_Mutation_p.A6V	p.A6V			Q6PH81	CP087_HUMAN			1	29	-			6					Q63HN9	Missense_Mutation	SNP	ENST00000285697.4	37	c.17C>T	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610570	0.87258	.	.	ENSG00000155330	ENST00000285697;ENST00000394806	.	.	.	5.0	4.04	0.47022	.	0.123577	0.56097	D	0.000026	T	0.29223	0.0727	N	0.08118	0	0.41172	D	0.986179	B	0.02656	0.0	B	0.01281	0.0	T	0.07790	-1.0754	9	0.25751	T	0.34	-8.2173	9.3577	0.38177	0.0974:0.0:0.9026:0.0	.	6	Q6PH81	CP087_HUMAN	V	6	.	ENSP00000285697:A6V	A	-	2	0	C16orf87	45422546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.352000	0.59404	1.341000	0.45600	0.591000	0.81541	GCC		0.711	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		3	35	0	0	0	1	0	3	35				
HOXD11	3237	broad.mit.edu	37	2	176973786	176973786	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:176973786A>C	ENST00000249504.5	+	2	1003	c.933A>C	c.(931-933)aaA>aaC	p.K311N	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR|AC009336.1_ENST00000401374.2_RNA	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	311					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GGCAAGTCAAAATCTGGTTCC	0.453			T	NUP98	AML																																	ENST00000249504.5				Dom	yes		2	2q31-q32	3237	T	homeo box D11			L	NUP98		AML		0											c.(931-933)aaA>aaC		homeobox D11							114.0	122.0	119.0					2																	176973786		2203	4300	6503	SO:0001583	missense	3237					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176973786A>C		CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"""Homeoboxes / ANTP class : HOXL subclass"""	5134	protein-coding gene	gene with protein product		142986	"""homeo box D11"""	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.933A>C	2.37:g.176973786A>C	ENSP00000249504:p.Lys311Asn					HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR	p.K311N	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	2	1003	+			311					A6NIS4|Q9NS02	Missense_Mutation	SNP	ENST00000249504.5	37	c.933A>C	CCDS2265.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.549027	0.65311	.	.	ENSG00000128713	ENST00000249504;ENST00000392538	D	0.96913	-4.17	5.12	5.12	0.69794	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.37437	U	0.002100	D	0.98482	0.9494	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	15.2134	0.73244	1.0:0.0:0.0:0.0	.	311	P31277	HXD11_HUMAN	N	311;132	ENSP00000249504:K311N	ENSP00000249504:K311N	K	+	3	2	HOXD11	176682032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.338000	0.65947	2.063000	0.61619	0.491000	0.48974	AAA		0.453	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359250.2			5	320	0	0	0	1	0	5	320				
PCSK7	9159	broad.mit.edu	37	11	117097933	117097933	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:117097933C>T	ENST00000320934.3	-	5	1339	c.709G>A	c.(709-711)Gcg>Acg	p.A237T		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	237	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGCACAGCCGCGATCTCTCCT	0.607			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(709-711)Gcg>Acg		proprotein convertase subtilisin/kexin type 7							115.0	95.0	102.0					11																	117097933		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117097933C>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.709G>A	11.37:g.117097933C>T	ENSP00000325917:p.Ala237Thr						p.A237T	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	5	1339	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	237			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.709G>A	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400424	0.83120	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	D;D	0.91237	-2.81;-2.81	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.050959	0.85682	D	0.000000	D	0.96383	0.8820	M	0.92555	3.32	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	D	0.97044	0.9759	10	0.87932	D	0	-14.2265	18.6171	0.91306	0.0:1.0:0.0:0.0	.	237	Q16549	PCSK7_HUMAN	T	237	ENSP00000325917:A237T;ENSP00000431181:A237T	ENSP00000325917:A237T	A	-	1	0	PCSK7	116603143	1.000000	0.71417	0.155000	0.22561	0.160000	0.22226	7.768000	0.85345	2.633000	0.89246	0.655000	0.94253	GCG		0.607	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		7	462	0	0	0	1	0	7	462				
IL1RAPL2	26280	broad.mit.edu	37	X	103903622	103903622	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:103903622G>T	ENST00000372582.1	+	2	784	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.V10L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	10					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTGGCCCTTGTGGTCTGTTC	0.398																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(28-30)Gtg>Ttg		interleukin 1 receptor accessory protein-like 2							126.0	111.0	116.0					X																	103903622		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:103903622G>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.28G>T	X.37:g.103903622G>T	ENSP00000361663:p.Val10Leu					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.V10L	p.V10L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			2	784	+			10					Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.28G>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	0.554	-0.848323	0.02651	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03094	4.05;4.05	5.3	2.51	0.30379	Immunoglobulin-like (1);	0.878097	0.09477	N	0.796923	T	0.01254	0.0041	N	0.01576	-0.805	0.80722	D	1	B	0.23591	0.088	B	0.18871	0.023	T	0.43442	-0.9391	10	0.02654	T	1	.	4.6963	0.12806	0.083:0.1469:0.6143:0.1559	.	10	Q9NP60	IRPL2_HUMAN	L	10	ENSP00000361663:V10L;ENSP00000344976:V10L	ENSP00000344976:V10L	V	+	1	0	IL1RAPL2	103790278	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	2.837000	0.48191	0.179000	0.19938	-0.391000	0.06502	GTG		0.398	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		4	155	1	0	0.00909568	1	0.00940932	4	155				
UBE4A	9354	broad.mit.edu	37	11	118245844	118245844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:118245844C>A	ENST00000431736.2	+	9	1443	c.1371C>A	c.(1369-1371)tgC>tgA	p.C457*	UBE4A_ENST00000252108.3_Nonsense_Mutation_p.C450*					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGCCATTTTGCAAACCCAGAT	0.443																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(1348-1350)tgC>tgA		ubiquitination factor E4A							90.0	86.0	87.0					11																	118245844		2200	4296	6496	SO:0001587	stop_gained	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118245844C>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1371C>A	11.37:g.118245844C>A	ENSP00000387362:p.Cys457*					UBE4A_ENST00000431736.2_Nonsense_Mutation_p.C457*	p.C450*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	9	1481	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	450						Nonsense_Mutation	SNP	ENST00000431736.2	37	c.1350C>A	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	38	6.899132	0.97920	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	.	.	.	5.85	4.94	0.65067	.	0.083957	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-10.5507	10.8569	0.46804	0.0:0.857:0.0:0.143	.	.	.	.	X	450;457	.	ENSP00000252108:C450X	C	+	3	2	UBE4A	117751054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.855000	0.48333	1.491000	0.48482	0.491000	0.48974	TGC		0.443	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		12	103	1	0	9.31168e-06	1	1.0238e-05	12	103				
ZNF836	162962	broad.mit.edu	37	19	52658790	52658790	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:52658790G>C	ENST00000322146.8	-	5	2667	c.2146C>G	c.(2146-2148)Cct>Gct	p.P716A	ZNF836_ENST00000597252.1_Missense_Mutation_p.P716A|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	716					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.P716A(2)|p.P716S(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCCCAGTAGGATTTCTGTGA	0.398																																						ENST00000322146.8																			3	Substitution - Missense(3)	p.P716A(2)|p.P716S(1)	kidney(2)|upper_aerodigestive_tract(1)	endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2146-2148)Cct>Gct		zinc finger protein 836							67.0	67.0	67.0					19																	52658790		1976	4175	6151	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658790G>C	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2146C>G	19.37:g.52658790G>C	ENSP00000325038:p.Pro716Ala					CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.P716A	p.P716A	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2667	-			716						Missense_Mutation	SNP	ENST00000322146.8	37	c.2146C>G	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	g	14.22	2.470694	0.43942	.	.	ENSG00000196267	ENST00000322146	T	0.14640	2.49	2.18	1.09	0.20402	Zinc finger, C2H2 (1);	.	.	.	.	T	0.08492	0.0211	N	0.24115	0.695	0.22280	N	0.999239	P	0.38280	0.625	B	0.33799	0.17	T	0.24404	-1.0161	9	0.87932	D	0	.	7.7484	0.28883	0.1405:0.0:0.8595:0.0	.	716	Q6ZNA1	ZN836_HUMAN	A	716	ENSP00000325038:P716A	ENSP00000325038:P716A	P	-	1	0	ZNF836	57350602	0.981000	0.34729	0.000000	0.03702	0.006000	0.05464	4.244000	0.58728	0.243000	0.21327	-0.266000	0.10368	CCT		0.398	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		33	45	0	0	0	1	0	33	45				
SYT5	6861	broad.mit.edu	37	19	55686318	55686318	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:55686318G>A	ENST00000354308.3	-	7	1127	c.758C>T	c.(757-759)gCc>gTc	p.A253V	SYT5_ENST00000537500.1_Missense_Mutation_p.A253V|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000590851.1_Missense_Mutation_p.A249V	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	253	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGCTTCCCGGCCGTGGGGAC	0.602																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(757-759)gCc>gTc		synaptotagmin V							105.0	100.0	102.0					19																	55686318		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55686318G>A	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.758C>T	19.37:g.55686318G>A	ENSP00000346265:p.Ala253Val					CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.A249V|SYT5_ENST00000537500.1_Missense_Mutation_p.A253V	p.A253V	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1127	-			253			C2 2.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.758C>T	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472590	0.96274	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.71698	-0.59;-0.59	3.87	3.87	0.44632	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.68593	2.085	0.58432	D	0.999999	P;P;P	0.50156	0.865;0.932;0.757	B;B;B	0.40101	0.272;0.144;0.319	T	0.77143	-0.2696	10	0.87932	D	0	.	15.4552	0.75308	0.0:0.0:1.0:0.0	.	249;252;253	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	V	253;253;249	ENSP00000442896:A253V;ENSP00000346265:A253V	ENSP00000346265:A253V	A	-	2	0	SYT5	60378130	1.000000	0.71417	0.995000	0.50966	0.742000	0.42306	7.684000	0.84104	2.116000	0.64780	0.305000	0.20034	GCC		0.602	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		4	144	0	0	0	1	0	4	144				
TAS2R3	50831	broad.mit.edu	37	7	141464695	141464695	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:141464695A>T	ENST00000247879.2	+	1	799	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	246					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttcttactttactttcttgct	0.418																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(736-738)tAc>tTc		taste receptor, type 2, member 3							93.0	84.0	87.0					7																	141464695		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464695A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.737A>T	7.37:g.141464695A>T	ENSP00000247879:p.Tyr246Phe					SSBP1_ENST00000465582.1_Intron	p.Y246F	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	799	+	Melanoma(164;0.0171)		246					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.737A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886789	0.51908	.	.	ENSG00000127362	ENST00000247879	T	0.01172	5.23	5.71	5.71	0.89125	.	0.146929	0.44097	D	0.000497	T	0.04588	0.0125	L	0.59967	1.855	0.24084	N	0.995936	D	0.89917	1.0	D	0.87578	0.998	T	0.26326	-1.0106	10	0.87932	D	0	.	8.4777	0.33023	0.914:0.0:0.086:0.0	.	246	Q9NYW6	TA2R3_HUMAN	F	246	ENSP00000247879:Y246F	ENSP00000247879:Y246F	Y	+	2	0	TAS2R3	141111164	0.776000	0.28616	0.946000	0.38457	0.325000	0.28411	3.110000	0.50352	2.180000	0.69256	0.455000	0.32223	TAC		0.418	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			6	109	0	0	0	1	0	6	109				
CLTB	1212	broad.mit.edu	37	5	175824632	175824632	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:175824632A>T	ENST00000310418.4	-	4	645	c.440T>A	c.(439-441)gTa>gAa	p.V147E	CLTB_ENST00000345807.2_Missense_Mutation_p.V147E	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	147	Involved in binding clathrin heavy chain.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GTTCTTCTCTACTTGTTCACT	0.592																																						ENST00000310418.4																			0				lung(1)	1						c.(439-441)gTa>gAa		clathrin, light chain B							197.0	177.0	184.0					5																	175824632		2203	4300	6503	SO:0001583	missense	1212				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity	g.chr5:175824632A>T	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.440T>A	5.37:g.175824632A>T	ENSP00000309415:p.Val147Glu					CLTB_ENST00000345807.2_Missense_Mutation_p.V147E	p.V147E	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	4	645	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	147			Involved in binding clathrin heavy chain.		Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	c.440T>A	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	a	21.8	4.198963	0.79015	.	.	ENSG00000175416	ENST00000310418;ENST00000345807	.	.	.	4.16	4.16	0.48862	.	0.095072	0.64402	D	0.000001	T	0.42040	0.1185	N	0.24115	0.695	0.43531	D	0.995814	P;P	0.44344	0.696;0.833	P;P	0.46419	0.516;0.499	T	0.15723	-1.0427	9	0.11485	T	0.65	.	13.2153	0.59856	1.0:0.0:0.0:0.0	.	147;147	P09497-2;P09497	.;CLCB_HUMAN	E	147	.	ENSP00000309415:V147E	V	-	2	0	CLTB	175757238	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.281000	0.95811	1.508000	0.48769	0.248000	0.18094	GTA		0.592	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			4	117	0	0	0	1	0	4	117				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	7	0	0	0	1	0	3	7				
OR10G2	26534	broad.mit.edu	37	14	22102295	22102295	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:22102295G>C	ENST00000542433.1	-	1	801	c.704C>G	c.(703-705)aCc>aGc	p.T235S		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T235S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCCATCAGCGGTGCGTATCTT	0.542																																						ENST00000542433.1																			1	Substitution - Missense(1)	p.T235S(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(703-705)aCc>aGc		olfactory receptor, family 10, subfamily G, member 2							42.0	43.0	43.0					14																	22102295		2176	4242	6418	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102295G>C		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.704C>G	14.37:g.22102295G>C	ENSP00000445383:p.Thr235Ser						p.T235S	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	801	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	235					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.704C>G	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.366620	0.01225	.	.	ENSG00000255582	ENST00000542433	T	0.00010	9.4	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.137065	0.33005	N	0.005387	T	0.00073	0.0002	N	0.00566	-1.37	0.09310	N	1	D	0.59357	0.985	P	0.62740	0.906	T	0.66878	-0.5812	10	0.02654	T	1	-8.0537	13.4661	0.61254	0.0:0.0:1.0:0.0	.	235	Q8NGC3	O10G2_HUMAN	S	235	ENSP00000445383:T235S	ENSP00000445383:T235S	T	-	2	0	OR10G2	21172135	0.026000	0.19158	0.971000	0.41717	0.028000	0.11728	1.990000	0.40717	2.027000	0.59764	0.557000	0.71058	ACC		0.542	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			20	44	0	0	0	1	0	20	44				
WDPCP	51057	broad.mit.edu	37	2	63719992	63719992	+	Missense_Mutation	SNP	G	G	A	rs149347732		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:63719992G>A	ENST00000272321.7	-	2	685	c.158C>T	c.(157-159)gCg>gTg	p.A53V	WDPCP_ENST00000409562.3_Missense_Mutation_p.A53V|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	53					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCATTTACCCGCAATGTGTAA	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15305	0.0		0.0	False		,,,				2504	0.0					ENST00000409562.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(157-159)gCg>gTg		WD repeat containing planar cell polarity effector							103.0	102.0	102.0					2																	63719992		1824	4091	5915	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63719992G>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.158C>T	2.37:g.63719992G>A	ENSP00000272321:p.Ala53Val					WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000272321.7_Missense_Mutation_p.A53V	p.A53V			O95876	FRITZ_HUMAN			2	404	-			53					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.158C>T	CCDS42688.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.26	1.884582	0.33255	.	.	ENSG00000143951	ENST00000272321;ENST00000409562;ENST00000431065	T;T;T	0.77620	-0.68;-0.08;-1.11	5.38	-2.97	0.05530	.	0.562185	0.19811	N	0.105523	T	0.53916	0.1826	N	0.14661	0.345	0.09310	N	0.99999	B;B	0.30193	0.272;0.118	B;B	0.23275	0.045;0.02	T	0.41413	-0.9510	10	0.31617	T	0.26	-11.7402	10.7825	0.46386	0.0:0.3552:0.4731:0.1717	.	53;53	O95876-2;O95876	.;FRITZ_HUMAN	V	53	ENSP00000272321:A53V;ENSP00000387222:A53V;ENSP00000396226:A53V	ENSP00000272321:A53V	A	-	2	0	WDPCP	63573496	0.003000	0.15002	0.126000	0.21872	0.976000	0.68499	-0.029000	0.12329	-0.503000	0.06586	0.305000	0.20034	GCG		0.358	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		5	193	0	0	0	1	0	5	193				
ZAK	51776	broad.mit.edu	37	2	174055621	174055621	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:174055621A>T	ENST00000375213.3	+	6	493		c.e6-1		MLTK_ENST00000539448.1_Splice_Site|MLTK_ENST00000480606.1_Splice_Site|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000338983.3_Splice_Site|MLTK_ENST00000431503.2_Splice_Site|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Splice_Site	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										TTCTTTTTTTAGTTGTTATAG	0.279																																						ENST00000338983.3																			0											c.e6-1									56.0	65.0	62.0					2																	174055621		2201	4297	6498	SO:0001630	splice_region_variant	51776							g.chr2:174055621A>T																												ENST00000375213.3:c.416-1A>T	2.37:g.174055621A>T						MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000409176.2_Splice_Site|MLTK_ENST00000375213.3_Splice_Site|MLTK_ENST00000480606.1_Splice_Site|MLTK_ENST00000431503.2_Splice_Site|MLTK_ENST00000539448.1_Splice_Site		NM_133646.2	NP_598407.1					6	610	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Splice_Site	SNP	ENST00000375213.3	37		CCDS42777.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353707	0.82243	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC013461.1	173763867	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	6.243000	0.72384	2.371000	0.80710	0.533000	0.62120	.		0.279	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		Intron	4	69	0	0	0	1	0	4	69				
CDH26	60437	broad.mit.edu	37	20	58558027	58558027	+	Missense_Mutation	SNP	C	C	G	rs149485584		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:58558027C>G	ENST00000244047.5	+	5	754	c.443C>G	c.(442-444)tCc>tGc	p.S148C	CDH26_ENST00000348616.4_Missense_Mutation_p.S148C			Q8IXH8	CAD26_HUMAN	cadherin 26	148	Cadherin 1. {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.S148C(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTGGATACATCCTTGATTTTC	0.403																																						ENST00000348616.4																			2	Substitution - Missense(2)	p.S148C(2)	urinary_tract(2)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(442-444)tCc>tGc		cadherin 26		C	CYS/SER	1,4405	2.1+/-5.4	0,1,2202	170.0	170.0	170.0		443	5.0	0.0	20	dbSNP_134	170	0,8600		0,0,4300	no	missense	CDH26	NM_177980.2	112	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	148/833	58558027	1,13005	2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58558027C>G	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.443C>G	20.37:g.58558027C>G	ENSP00000244047:p.Ser148Cys					CDH26_ENST00000244047.5_Missense_Mutation_p.S148C	p.S148C	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		5	743	+	all_lung(29;0.00963)		148			Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.443C>G		.	.	.	.	.	.	.	.	.	.	C	15.98	2.991957	0.54041	2.27E-4	0.0	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.60920	0.15;0.24	5.0	5.0	0.66597	.	0.269399	0.38326	N	0.001722	T	0.64605	0.2613	M	0.78049	2.395	0.09310	N	0.999991	P	0.41710	0.76	B	0.43658	0.426	T	0.65170	-0.6233	10	0.87932	D	0	.	15.2417	0.73476	0.0:1.0:0.0:0.0	.	148	Q8IXH8-4	.	C	148	ENSP00000244047:S148C;ENSP00000339390:S148C	ENSP00000244047:S148C	S	+	2	0	CDH26	57991422	0.977000	0.34250	0.022000	0.16811	0.744000	0.42396	4.648000	0.61425	2.306000	0.77630	0.655000	0.94253	TCC		0.403	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		4	164	0	0	0	1	0	4	164				
RMND5B	64777	broad.mit.edu	37	5	177574737	177574737	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:177574737T>C	ENST00000515098.1	+	11	1322	c.971T>C	c.(970-972)aTt>aCt	p.I324T	RMND5B_ENST00000313386.4_Missense_Mutation_p.I324T|RMND5B_ENST00000542098.1_Missense_Mutation_p.I311T			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	324										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGATTGAGATTGAACTAGGC	0.582																																						ENST00000515098.1																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(970-972)aTt>aCt		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							139.0	126.0	130.0					5																	177574737		2203	4300	6503	SO:0001583	missense	64777							g.chr5:177574737T>C	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.971T>C	5.37:g.177574737T>C	ENSP00000420875:p.Ile324Thr					RMND5B_ENST00000542098.1_Missense_Mutation_p.I311T|RMND5B_ENST00000313386.4_Missense_Mutation_p.I324T	p.I324T			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1322	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	324					Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	c.971T>C	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023441	0.75390	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	L	0.58428	1.81	0.80722	D	1	D;D;P	0.69078	0.995;0.997;0.776	P;P;P	0.59171	0.717;0.853;0.521	T	0.62374	-0.6868	9	0.18710	T	0.47	-11.0489	13.588	0.61942	0.0:0.0:0.0:1.0	.	311;311;324	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	T	324;324;311	.	ENSP00000320623:I324T	I	+	2	0	RMND5B	177507343	1.000000	0.71417	0.975000	0.42487	0.917000	0.54804	7.832000	0.86757	2.098000	0.63641	0.460000	0.39030	ATT		0.582	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		5	185	0	0	0	1	0	5	185				
CDC42EP3	10602	broad.mit.edu	37	2	37873692	37873692	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:37873692A>T	ENST00000295324.3	-	2	1039	c.39T>A	c.(37-39)aaT>aaA	p.N13K	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	13					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CTTTCTTGTTATTGGCTGCTT	0.448																																						ENST00000295324.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(37-39)aaT>aaA		CDC42 effector protein (Rho GTPase binding) 3							149.0	158.0	155.0					2																	37873692		2203	4300	6503	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873692A>T	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.39T>A	2.37:g.37873692A>T	ENSP00000295324:p.Asn13Lys					AC006369.2_ENST00000419425.1_RNA	p.N13K	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN			2	1039	-		all_hematologic(82;0.172)	13					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.39T>A	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.503776	0.44558	.	.	ENSG00000163171	ENST00000295324;ENST00000457889;ENST00000453555;ENST00000422687	T	0.30182	1.54	5.91	1.41	0.22369	.	0.140322	0.64402	D	0.000007	T	0.13841	0.0335	N	0.14661	0.345	0.39142	D	0.962061	P	0.37781	0.608	B	0.32864	0.154	T	0.12142	-1.0559	10	0.27082	T	0.32	-32.0066	8.7333	0.34512	0.3633:0.0:0.6367:0.0	.	13	Q9UKI2	BORG2_HUMAN	K	13	ENSP00000295324:N13K	ENSP00000295324:N13K	N	-	3	2	CDC42EP3	37727196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.828000	0.27435	0.582000	0.29556	0.533000	0.62120	AAT		0.448	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		6	218	0	0	0	1	0	6	218				
DNPEP	23549	broad.mit.edu	37	2	220239650	220239650	+	Missense_Mutation	SNP	G	G	C	rs376780714		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:220239650G>C	ENST00000273075.4	-	14	1554	c.1334C>G	c.(1333-1335)cCc>cGc	p.P445R	DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Missense_Mutation_p.P453R|DNPEP_ENST00000373972.1_Missense_Mutation_p.P370R	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	435					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCAGTTGGGGGCTGCCTAA	0.607																																						ENST00000273075.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1333-1335)cCc>cGc		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						43.0	47.0	46.0					2																	220239650		1952	4130	6082	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220239650G>C		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1334C>G	2.37:g.220239650G>C	ENSP00000273075:p.Pro445Arg					DNPEP_ENST00000523282.1_Missense_Mutation_p.P453R|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000373972.1_Missense_Mutation_p.P370R	p.P445R	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1554	-		Renal(207;0.0474)	435					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.1334C>G	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042340	0.93685	.	.	ENSG00000123992	ENST00000273075;ENST00000373972;ENST00000523282;ENST00000535056	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.91226	0.7235	H	0.99011	4.4	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	0.94438	0.7656	9	0.87932	D	0	-33.7631	19.1173	0.93346	0.0:0.0:1.0:0.0	.	453;453;435;445	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	R	445;370;453;338	.	ENSP00000273075:P445R	P	-	2	0	DNPEP	219947894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.368000	0.97152	2.746000	0.94184	0.655000	0.94253	CCC		0.607	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		8	116	0	0	0	1	0	8	116				
CDH10	1008	broad.mit.edu	37	5	24488133	24488133	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:24488133G>T	ENST00000264463.4	-	12	2513	c.2006C>A	c.(2005-2007)gCc>gAc	p.A669D	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	669					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATATCAAAGGCCTGGGTGTC	0.463										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2005-2007)gCc>gAc		cadherin 10, type 2 (T2-cadherin)							63.0	65.0	65.0					5																	24488133		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488133G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2006C>A	5.37:g.24488133G>T	ENSP00000264463:p.Ala669Asp	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.A669D	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2513	-			669					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2006C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470904	0.84533	.	.	ENSG00000040731	ENST00000264463	T	0.80480	-1.38	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90094	0.4179	10	0.44086	T	0.13	.	18.2977	0.90153	0.0:0.0:1.0:0.0	.	669	Q9Y6N8	CAD10_HUMAN	D	669	ENSP00000264463:A669D	ENSP00000264463:A669D	A	-	2	0	CDH10	24523890	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.658000	0.98594	2.580000	0.87095	0.655000	0.94253	GCC		0.463	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		17	114	1	0	3.99206e-14	1	4.68342e-14	17	114				
MIR526B	574468	broad.mit.edu	37	19	54198466	54198466	+	RNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:54198466C>T	ENST00000384848.1	+	0	83				MIR519B_ENST00000385090.1_RNA|MIR525_ENST00000384978.1_RNA	NR_030190.1				microRNA 526b																		CAAGAAGATCCCATGCTGTGA	0.403																																						ENST00000385090.1																			0																				128.0	121.0	123.0					19																	54198466		1568	3582	5150			574469							g.chr19:54198466C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207580	ENSG00000207580		"""ncRNAs / Micro RNAs"""	32100	non-coding RNA	RNA, micro				MIRN526B			Standard	NR_030190		Approved	hsa-mir-526b	uc021uzt.1				19.37:g.54198466C>T								NR_030191.1						0	0	+									RNA	SNP	ENST00000384848.1	37																																																																																						0.403	MIR526B-201	KNOWN	basic	miRNA	miRNA		NR_030190		9	275	0	0	0	1	0	9	275				
EHHADH	1962	broad.mit.edu	37	3	184966307	184966307	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:184966307T>A	ENST00000231887.3	-	2	150		c.e2-2		EHHADH_ENST00000456310.1_Splice_Site|EHHADH_ENST00000440662.1_Splice_Site|EHHADH_ENST00000475987.1_Splice_Site	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase						fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			AAAGTCGTACTAAAAGAAAAC	0.323																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.e2-2		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						123.0	121.0	121.0					3																	184966307		2203	4300	6503	SO:0001630	splice_region_variant	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184966307T>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.75-2A>T	3.37:g.184966307T>A						EHHADH_ENST00000475987.1_Splice_Site|EHHADH_ENST00000456310.1_Splice_Site|EHHADH_ENST00000440662.1_Splice_Site		NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		2	150	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)							A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Splice_Site	SNP	ENST00000231887.3	37		CCDS33901.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.134984	0.37728	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000440662	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7778	0.51995	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EHHADH	186449001	0.917000	0.31117	0.468000	0.27192	0.004000	0.04260	2.437000	0.44828	2.095000	0.63458	0.523000	0.50628	.		0.323	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1		Intron	7	283	0	0	0	1	0	7	283				
ZC3H13	23091	broad.mit.edu	37	13	46543778	46543778	+	Silent	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr13:46543778A>T	ENST00000242848.4	-	14	3249	c.2901T>A	c.(2899-2901)atT>atA	p.I967I	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Silent_p.I967I			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	967	Lys-rich.			I -> K (in Ref. 3; CAD38544). {ECO:0000305}.			metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTTTTTCTTAATTGGTTTCT	0.368																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2899-2901)atT>atA		zinc finger CCCH-type containing 13							155.0	151.0	152.0					13																	46543778		2203	4300	6503	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46543778A>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2901T>A	13.37:g.46543778A>T						ZC3H13_ENST00000282007.3_Silent_p.I967I|ZC3H13_ENST00000378921.2_5'UTR	p.I967I			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3249	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	967	I -> K (in Ref. 3; CAD38544).		Lys-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.2901T>A																																																																																					0.368	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		8	343	0	0	0	1	0	8	343				
DCP1B	196513	broad.mit.edu	37	12	2064624	2064624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:2064624G>A	ENST00000280665.6	-	6	704	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	DCP1B_ENST00000540622.1_Nonsense_Mutation_p.Q83*|DCP1B_ENST00000397173.4_Nonsense_Mutation_p.Q107*|DCP1B_ENST00000541700.1_Intron	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	209					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ATACGCTGTTGCTGGTTTTCA	0.413																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(625-627)Caa>Taa		decapping mRNA 1B							272.0	255.0	261.0					12																	2064624		2203	4300	6503	SO:0001587	stop_gained	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2064624G>A	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.625C>T	12.37:g.2064624G>A	ENSP00000280665:p.Gln209*					DCP1B_ENST00000397173.4_Nonsense_Mutation_p.Q107*|DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Nonsense_Mutation_p.Q83*	p.Q209*	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		6	704	-			209					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Nonsense_Mutation	SNP	ENST00000280665.6	37	c.625C>T	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	37	6.615523	0.97709	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	.	.	.	5.73	4.82	0.62117	.	0.572540	0.18705	N	0.133467	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-2.8542	14.779	0.69751	0.0:0.0:0.8503:0.1497	.	.	.	.	X	209;107;83	.	ENSP00000280665:Q209X	Q	-	1	0	DCP1B	1934885	1.000000	0.71417	0.237000	0.24090	0.986000	0.74619	3.917000	0.56424	1.363000	0.46019	0.655000	0.94253	CAA		0.413	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		66	416	0	0	0	1	0	66	416				
CNGA4	1262	broad.mit.edu	37	11	6260632	6260632	+	Silent	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:6260632G>T	ENST00000379936.2	+	2	196	c.81G>T	c.(79-81)ctG>ctT	p.L27L	CNGA4_ENST00000533426.1_5'UTR	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	27					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTGTCCTGGACCCATCTG	0.488																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(79-81)ctG>ctT		cyclic nucleotide gated channel alpha 4							214.0	219.0	217.0					11																	6260632		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6260632G>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.81G>T	11.37:g.6260632G>T						CNGA4_ENST00000533426.1_5'UTR	p.L27L	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	196	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	27						Silent	SNP	ENST00000379936.2	37	c.81G>T	CCDS31408.1																																																																																				0.488	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		9	603	1	0	7.48243e-07	1	8.49357e-07	9	603				
SRPR	6734	broad.mit.edu	37	11	126137176	126137176	+	Silent	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:126137176T>C	ENST00000332118.6	-	4	574	c.420A>G	c.(418-420)gaA>gaG	p.E140E	FOXRED1_ENST00000263578.5_5'Flank|SRPR_ENST00000532259.1_Silent_p.E112E|FOXRED1_ENST00000532125.1_5'Flank|FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	140					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTTCAGAATCTTCAAATTTCT	0.443																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(418-420)gaA>gaG		signal recognition particle receptor (docking protein)							171.0	171.0	171.0					11																	126137176		2201	4298	6499	SO:0001819	synonymous_variant	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126137176T>C	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.420A>G	11.37:g.126137176T>C						SRPR_ENST00000532259.1_Silent_p.E112E	p.E140E	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	4	574	-	all_hematologic(175;0.145)		140					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Silent	SNP	ENST00000332118.6	37	c.420A>G	CCDS31717.1																																																																																				0.443	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		4	204	0	0	0	1	0	4	204				
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000506376.1_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTCTTTTTTAGTTGAGTGAT	0.368																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e12-1		retinoic acid induced 14							103.0	93.0	96.0					5																	34814686		2203	4300	6503	SO:0001630	splice_region_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34814686A>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.853-1A>T	5.37:g.34814686A>T						RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000506376.1_Splice_Site		NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			12	1139	+	all_lung(31;0.000191)							E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Splice_Site	SNP	ENST00000265109.3	37		CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147539	0.77888	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAI14	34850443	1.000000	0.71417	0.989000	0.46669	0.830000	0.47004	6.041000	0.70988	2.367000	0.80283	0.528000	0.53228	.		0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	Intron	5	63	0	0	0	1	0	5	63				
BCCIP	56647	broad.mit.edu	37	10	127522413	127522413	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:127522413G>T	ENST00000278100.6	+	6	684	c.672G>T	c.(670-672)aaG>aaT	p.K224N	BCCIP_ENST00000368759.5_Missense_Mutation_p.K224N|BCCIP_ENST00000429863.2_Missense_Mutation_p.K194N|BCCIP_ENST00000299130.3_Missense_Mutation_p.K224N	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	224	Interaction with CDKN1A.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATTAGTAAGACATTTGTGG	0.398																																						ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(670-672)aaG>aaT		BRCA2 and CDKN1A interacting protein							112.0	116.0	114.0					10																	127522413		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127522413G>T	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.672G>T	10.37:g.127522413G>T	ENSP00000278100:p.Lys224Asn					BCCIP_ENST00000429863.2_Missense_Mutation_p.K194N|BCCIP_ENST00000368759.5_Missense_Mutation_p.K224N|BCCIP_ENST00000278100.6_Missense_Mutation_p.K224N	p.K224N	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN			6	684	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	224			Interaction with CDKN1A.		B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.672G>T	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379091	0.82682	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.86	5.86	0.93980	.	0.044578	0.85682	D	0.000000	T	0.78886	0.4354	M	0.93898	3.47	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	0.91635	0.997;0.999;0.998;0.994;0.998	D	0.83530	0.0090	10	0.87932	D	0	-15.9052	13.3914	0.60827	0.0716:0.0:0.9284:0.0	.	194;224;224;224;224	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	N	224;224;224;194;224	ENSP00000278100:K224N;ENSP00000299130:K224N;ENSP00000357748:K224N;ENSP00000394758:K194N	ENSP00000278100:K224N	K	+	3	2	BCCIP	127512403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.078000	0.71282	2.777000	0.95525	0.591000	0.81541	AAG		0.398	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			10	146	1	0	3.07112e-06	1	3.4305e-06	10	146				
MYO1D	4642	broad.mit.edu	37	17	30981510	30981510	+	Silent	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:30981510G>C	ENST00000318217.5	-	18	2779	c.2475C>G	c.(2473-2475)ggC>ggG	p.G825G	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.G825G|MYO1D_ENST00000394649.4_Silent_p.G737G	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	825	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAAGATAGTTGCCCTCCCAGG	0.493																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2473-2475)ggC>ggG		myosin ID							94.0	98.0	97.0					17																	30981510		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30981510G>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2475C>G	17.37:g.30981510G>C						MYO1D_ENST00000579584.1_Silent_p.G825G|MYO1D_ENST00000394649.4_Silent_p.G737G|RP11-220C2.1_ENST00000582272.1_RNA	p.G825G	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		18	2779	-			825					A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.2475C>G	CCDS32615.1																																																																																				0.493	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			3	155	0	0	0	1	0	3	155				
CFAP43	80217	broad.mit.edu	37	10	105967448	105967448	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:105967448A>T	ENST00000278064.2	-	6	985	c.660T>A	c.(658-660)aaT>aaA	p.N220K	WDR96_ENST00000369719.1_Missense_Mutation_p.N220K|WDR96_ENST00000369720.1_Missense_Mutation_p.N220K|WDR96_ENST00000357060.3_Missense_Mutation_p.N290K|WDR96_ENST00000428666.1_Missense_Mutation_p.N290K																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTCTATCTTATTAAGTACAG	0.393																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(868-870)aaT>aaA		WD repeat domain 96							131.0	126.0	128.0					10																	105967448		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105967448A>T																												ENST00000278064.2:c.660T>A	10.37:g.105967448A>T	ENSP00000278064:p.Asn220Lys					WDR96_ENST00000428666.1_Missense_Mutation_p.N290K|WDR96_ENST00000369719.1_Missense_Mutation_p.N220K|WDR96_ENST00000369720.1_Missense_Mutation_p.N220K|WDR96_ENST00000278064.2_Missense_Mutation_p.N220K	p.N290K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			6	985	-			290						Missense_Mutation	SNP	ENST00000278064.2	37	c.870T>A		.	.	.	.	.	.	.	.	.	.	A	6.332	0.429322	0.11987	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.69040	2.52;2.52;2.51;1.53;-0.37	4.88	-4.1	0.03940	WD40 repeat-like-containing domain (1);	1.038400	0.07664	N	0.934258	T	0.42449	0.1203	N	0.25647	0.755	0.09310	N	1	B;B;B	0.14438	0.007;0.01;0.003	B;B;B	0.14578	0.006;0.011;0.005	T	0.21245	-1.0251	10	0.23302	T	0.38	.	0.461	0.00516	0.2919:0.2753:0.2234:0.2094	.	290;290;290	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	K	290;290;220;220;220	ENSP00000349568:N290K;ENSP00000400289:N290K;ENSP00000278064:N220K;ENSP00000358734:N220K;ENSP00000358733:N220K	ENSP00000278064:N220K	N	-	3	2	WDR96	105957438	0.051000	0.20477	0.003000	0.11579	0.011000	0.07611	-0.320000	0.08028	-0.444000	0.07170	0.528000	0.53228	AAT		0.393	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			6	316	0	0	0	1	0	6	316				
FCN1	2219	broad.mit.edu	37	9	137808248	137808248	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:137808248C>A	ENST00000371806.3	-	2	254	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	55	Collagen-like.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCGGGCAGCCCCGGGCAGCCT	0.677																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(163-165)Ggg>Tgg		ficolin (collagen/fibrinogen domain containing) 1							100.0	121.0	114.0					9																	137808248		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137808248C>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.163G>T	9.37:g.137808248C>A	ENSP00000360871:p.Gly55Trp						p.G55W	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	2	254	-		Myeloproliferative disorder(178;0.0333)	55			Collagen-like.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.163G>T	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208862	0.58343	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.99369	-5.78	3.96	3.96	0.45880	.	.	.	.	.	D	0.99573	0.9846	H	0.95982	3.75	0.47949	D	0.999556	D	0.89917	1.0	D	0.97110	1.0	D	0.97709	1.0189	9	0.87932	D	0	.	13.8781	0.63665	0.0:1.0:0.0:0.0	.	55	O00602	FCN1_HUMAN	W	55	ENSP00000360871:G55W	ENSP00000308877:G55W	G	-	1	0	FCN1	136948069	0.970000	0.33590	0.996000	0.52242	0.647000	0.38526	4.754000	0.62191	2.185000	0.69588	0.637000	0.83480	GGG		0.677	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		6	172	1	0	0.0477658	1	0.0491706	6	172				
C11orf30	56946	broad.mit.edu	37	11	76227234	76227234	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:76227234G>A	ENST00000529032.1	+	10	1562	c.1562G>A	c.(1561-1563)cGg>cAg	p.R521Q	C11orf30_ENST00000524767.1_Missense_Mutation_p.R536Q|C11orf30_ENST00000525919.1_Missense_Mutation_p.R522Q|C11orf30_ENST00000343878.3_Missense_Mutation_p.R521Q|C11orf30_ENST00000533248.1_Missense_Mutation_p.R535Q|C11orf30_ENST00000525038.1_Missense_Mutation_p.R536Q|C11orf30_ENST00000524490.1_Missense_Mutation_p.R437Q|C11orf30_ENST00000334736.3_Missense_Mutation_p.R521Q			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	521	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCCATTGGTCGGATGGCTGCA	0.468																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(1561-1563)cGg>cAg		chromosome 11 open reading frame 30							116.0	112.0	114.0					11																	76227234		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76227234G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1562G>A	11.37:g.76227234G>A	ENSP00000432327:p.Arg521Gln					C11orf30_ENST00000524490.1_Missense_Mutation_p.R437Q|C11orf30_ENST00000343878.3_Missense_Mutation_p.R521Q|C11orf30_ENST00000525919.1_Missense_Mutation_p.R522Q|C11orf30_ENST00000533248.1_Missense_Mutation_p.R535Q|C11orf30_ENST00000525038.1_Missense_Mutation_p.R536Q|C11orf30_ENST00000334736.3_Missense_Mutation_p.R521Q|C11orf30_ENST00000524767.1_Missense_Mutation_p.R536Q	p.R521Q			Q7Z589	EMSY_HUMAN			10	1562	+			521			Thr-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.1562G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743674	0.69418	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000533972;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000531998	.	.	.	5.38	5.38	0.77491	.	0.118092	0.56097	D	0.000023	T	0.63838	0.2545	L	0.27053	0.805	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.997;0.997;0.997;0.999;0.997;0.999	D;D;D;D;D;D	0.72625	0.953;0.953;0.953;0.978;0.968;0.978	T	0.56798	-0.7919	9	0.13853	T	0.58	-8.4169	19.1179	0.93350	0.0:0.0:1.0:0.0	.	535;536;536;522;437;521	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	Q	437;521;521;90;536;535;522;536;521;63	.	ENSP00000334130:R521Q	R	+	2	0	C11orf30	75904882	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.164000	0.94755	2.508000	0.84585	0.557000	0.71058	CGG		0.468	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		3	95	0	0	0	1	0	3	95				
CTSB	1508	broad.mit.edu	37	8	11703250	11703250	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:11703250C>T	ENST00000353047.6	-	9	1095	c.842G>A	c.(841-843)cGc>cAc	p.R281H	CTSB_ENST00000434271.1_Missense_Mutation_p.R281H|CTSB_ENST00000534510.1_Missense_Mutation_p.R281H|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000345125.3_Missense_Mutation_p.R281H|CTSB_ENST00000530640.2_Missense_Mutation_p.R281H|CTSB_ENST00000531089.1_Missense_Mutation_p.R281H|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000525076.1_5'Flank|CTSB_ENST00000533455.1_Missense_Mutation_p.R281H|CTSB_ENST00000453527.2_Missense_Mutation_p.R281H	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	281					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.R281H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GCCCAGGATGCGGATGGCATG	0.612																																						ENST00000353047.6																			1	Substitution - Missense(1)	p.R281H(1)	kidney(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(841-843)cGc>cAc		cathepsin B							130.0	85.0	100.0					8																	11703250		2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11703250C>T	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.842G>A	8.37:g.11703250C>T	ENSP00000345672:p.Arg281His					CTSB_ENST00000534510.1_Missense_Mutation_p.R281H|CTSB_ENST00000533455.1_Missense_Mutation_p.R281H|CTSB_ENST00000453527.2_Missense_Mutation_p.R281H|CTSB_ENST00000434271.1_Missense_Mutation_p.R281H|CTSB_ENST00000345125.3_Missense_Mutation_p.R281H|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.R281H|CTSB_ENST00000530640.2_Missense_Mutation_p.R281H	p.R281H	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	9	1095	-	all_epithelial(15;0.205)		281					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.842G>A	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826409	0.90955	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328	D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.43	5.43	0.79202	Peptidase C1A, papain C-terminal (3);	0.055373	0.85682	D	0.000000	D	0.94739	0.8302	H	0.97540	4.025	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;0.998;0.995;0.999	D	0.95433	0.8518	10	0.87932	D	0	.	11.7662	0.51933	0.0:0.9208:0.0:0.0792	.	218;281;281;218	B3KUJ8;A8K2H4;P07858;F5H2P9	.;.;CATB_HUMAN;.	H	281;218;281;281;281;281;281;281;281;187	ENSP00000415889:R281H;ENSP00000345672:R281H;ENSP00000435105:R281H;ENSP00000433215:R281H;ENSP00000409917:R281H;ENSP00000342070:R281H;ENSP00000432244:R281H;ENSP00000434217:R281H	ENSP00000342070:R281H	R	-	2	0	CTSB	11740659	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.474000	0.60203	2.825000	0.97269	0.655000	0.94253	CGC		0.612	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		20	65	0	0	0	1	0	20	65				
DSP	1832	broad.mit.edu	37	6	7580570	7580570	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:7580570C>A	ENST00000379802.3	+	23	4488	c.4147C>A	c.(4147-4149)Cag>Aag	p.Q1383K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1383	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTCACCATGCAGAAGGAAGA	0.433																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(4147-4149)Cag>Aag		desmoplakin							108.0	108.0	108.0					6																	7580570		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580570C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4147C>A	6.37:g.7580570C>A	ENSP00000369129:p.Gln1383Lys					DSP_ENST00000418664.2_Intron	p.Q1383K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4488	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1383			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.4147C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406206	0.62288	.	.	ENSG00000096696	ENST00000379802	D	0.92397	-3.03	5.65	3.85	0.44370	.	0.101785	0.43747	N	0.000529	D	0.83797	0.5332	L	0.52573	1.65	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77905	-0.2413	10	0.36615	T	0.2	.	15.091	0.72195	0.2584:0.7416:0.0:0.0	.	1383	P15924	DESP_HUMAN	K	1383	ENSP00000369129:Q1383K	ENSP00000369129:Q1383K	Q	+	1	0	DSP	7525569	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	0.923000	0.28757	0.723000	0.32274	0.655000	0.94253	CAG		0.433	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		11	147	1	0	0.000151284	1	0.000162091	11	147				
CLSTN3	9746	broad.mit.edu	37	12	7288077	7288077	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:7288077A>G	ENST00000266546.6	+	4	988	c.538A>G	c.(538-540)Atc>Gtc	p.I180V	CLSTN3_ENST00000537408.1_Missense_Mutation_p.I192V	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	180	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.Q179>?(1)|p.I180V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GTACAGCCAGATCTGCTACTA	0.582																																						ENST00000537408.1																			2	Substitution - Missense(1)|Complex(1)	p.Q179>?(1)|p.I180V(1)	kidney(2)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(574-576)Atc>Gtc		calsyntenin 3							198.0	151.0	167.0					12																	7288077		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7288077A>G	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.538A>G	12.37:g.7288077A>G	ENSP00000266546:p.Ile180Val					CLSTN3_ENST00000266546.6_Missense_Mutation_p.I180V	p.I192V			Q9BQT9	CSTN3_HUMAN			3	1112	+			180			Cadherin 2.		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.574A>G	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157203	0.38119	.	.	ENSG00000139182	ENST00000266546;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T	0.61158	0.13;0.88;0.88;0.13	5.02	5.02	0.67125	Cadherin (4);Cadherin-like (1);	0.103731	0.64402	D	0.000004	T	0.53802	0.1819	L	0.49571	1.57	0.58432	D	0.999994	B;P	0.35107	0.012;0.484	B;B	0.42245	0.002;0.381	T	0.50004	-0.8878	10	0.23302	T	0.38	-26.4262	9.419	0.38539	0.9206:0.0:0.0794:0.0	.	192;180	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	V	180;143;163;192	ENSP00000266546:I180V;ENSP00000443490:I143V;ENSP00000442801:I163V;ENSP00000440679:I192V	ENSP00000266546:I180V	I	+	1	0	CLSTN3	7179344	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.244000	0.72391	2.116000	0.64780	0.379000	0.24179	ATC		0.582	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		211	615	0	0	0	1	0	211	615				
MRPL45	84311	broad.mit.edu	37	17	36453208	36453208	+	Missense_Mutation	SNP	T	T	C	rs11559007	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:36453208T>C	ENST00000312513.5	+	1	220	c.59T>C	c.(58-60)tTt>tCt	p.F20S		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	20						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCTGGTGGTTTCGGCAGGTG	0.572													C|||	1310	0.261581	0.7458	0.1585	5008	,	,		18189	0.0		0.1541	False		,,,				2504	0.0603					ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(58-60)tTt>tCt		mitochondrial ribosomal protein L45		C	SER/PHE	641,743		287,67,338	50.0	81.0	72.0		59	3.3	1.0	17	dbSNP_134	72	225,2957		27,171,1393	no	missense	MRPL45	NM_032351.4	155	314,238,1731	CC,CT,TT		7.071,46.315,18.9663	benign	20/307	36453208	866,3700	692	1591	2283	SO:0001583	missense	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36453208T>C	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.59T>C	17.37:g.36453208T>C	ENSP00000308901:p.Phe20Ser						p.F20S	NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN			1	220	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	20					A1L436|Q6ZMJ5	Missense_Mutation	SNP	ENST00000312513.5	37	c.59T>C	CCDS11326.1	478	0.21886446886446886	267	0.5426829268292683	68	0.1878453038674033	35	0.06118881118881119	108	0.1424802110817942	C	2.695	-0.272197	0.05716	0.46315	0.07071	ENSG00000174100	ENST00000312513	T	0.25749	1.78	4.28	3.31	0.37934	.	.	.	.	.	T	0.00012	0.0000	N	0.00138	-2.015	0.48511	P	3.370000000000317E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.40664	-0.9551	8	0.29301	T	0.29	.	6.6711	0.23068	0.0:0.783:0.0:0.217	.	20	Q9BRJ2	RM45_HUMAN	S	20	ENSP00000308901:F20S	ENSP00000308901:F20S	F	+	2	0	MRPL45	.	0.996000	0.38824	0.988000	0.46212	0.947000	0.59692	0.684000	0.25364	0.565000	0.29255	-0.282000	0.10007	TTT		0.572	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		5	102	0	0	0	1	0	5	102				
SRCAP	10847	broad.mit.edu	37	16	30747940	30747940	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:30747940G>T	ENST00000262518.4	+	33	7388	c.7003G>T	c.(7003-7005)Gca>Tca	p.A2335S	SRCAP_ENST00000344771.4_Missense_Mutation_p.A2177S|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2273S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2335	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTCAAACAGGCAGAAGTGAG	0.537																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7003-7005)Gca>Tca		Snf2-related CREBBP activator protein							36.0	38.0	37.0					16																	30747940		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30747940G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7003G>T	16.37:g.30747940G>T	ENSP00000262518:p.Ala2335Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.A2273S|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2177S	p.A2335S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		33	7388	+			2335			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7003G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228941	0.39399	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92805	-3.09;-3.11;-3.11	3.76	3.76	0.43208	.	0.000000	0.40469	N	0.001086	D	0.89581	0.6756	N	0.08118	0	0.34644	D	0.720909	D;D	0.60160	0.987;0.978	P;P	0.61874	0.895;0.787	D	0.92357	0.5894	10	0.41790	T	0.15	-7.7925	14.488	0.67631	0.0:0.0:1.0:0.0	.	2273;2335	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2335;2273;2177	ENSP00000262518:A2335S;ENSP00000378499:A2273S;ENSP00000343042:A2177S	ENSP00000262518:A2335S	A	+	1	0	SRCAP	30655441	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.355000	0.90083	1.942000	0.56320	0.467000	0.42956	GCA		0.537	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		7	143	1	0	3.09899e-07	1	3.53689e-07	7	143				
DEFA5	1670	broad.mit.edu	37	8	6914167	6914167	+	Missense_Mutation	SNP	T	T	C	rs371075495		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:6914167T>C	ENST00000330590.2	-	1	89	c.53A>G	c.(52-54)cAg>cGg	p.Q18R		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	18					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGACTCAGCCTGGGCCTGCAG	0.582																																						ENST00000330590.2																			0				NS(1)|lung(4)|skin(1)|stomach(1)	7						c.(52-54)cAg>cGg		defensin, alpha 5, Paneth cell-specific							111.0	101.0	104.0					8																	6914167		2203	4300	6503	SO:0001583	missense	1670				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6914167T>C	BC069690	CCDS5963.1	8p23.1	2007-02-20			ENSG00000164816	ENSG00000164816		"""Defensins, alpha"""	2764	protein-coding gene	gene with protein product		600472		DEF5		1429669	Standard	NM_021010		Approved	HD-5	uc003wra.1	Q01523	OTTHUMG00000090383	ENST00000330590.2:c.53A>G	8.37:g.6914167T>C	ENSP00000329890:p.Gln18Arg						p.Q18R	NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	89	-			18					A0JDY6|Q3KNV2	Missense_Mutation	SNP	ENST00000330590.2	37	c.53A>G	CCDS5963.1	.	.	.	.	.	.	.	.	.	.	.	10.88	1.476039	0.26511	.	.	ENSG00000164816	ENST00000330590	T	0.55413	0.52	2.85	2.85	0.33270	Defensin propeptide (1);	0.459313	0.16286	N	0.221140	T	0.65375	0.2685	.	.	.	0.09310	N	1	D	0.62365	0.991	D	0.74023	0.982	T	0.51560	-0.8690	9	0.52906	T	0.07	.	7.4621	0.27302	0.0:0.0:0.0:1.0	.	18	Q01523	DEF5_HUMAN	R	18	ENSP00000329890:Q18R	ENSP00000329890:Q18R	Q	-	2	0	DEFA5	6901577	0.969000	0.33509	0.096000	0.21009	0.318000	0.28184	1.237000	0.32695	1.320000	0.45209	0.456000	0.33151	CAG		0.582	DEFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206755.1	NM_021010		5	204	0	0	0	1	0	5	204				
FMNL2	114793	broad.mit.edu	37	2	153417395	153417395	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:153417395A>T	ENST00000288670.9	+	6	810		c.e6-1			NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2						cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTTTTGTTTTAGTTTTGACTT	0.428																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.e6-1		formin-like 2							45.0	46.0	46.0					2																	153417395		1852	4096	5948	SO:0001630	splice_region_variant	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153417395A>T	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.444-1A>T	2.37:g.153417395A>T								NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			6	810	+								B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Splice_Site	SNP	ENST00000288670.9	37		CCDS46429.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.510905	0.85389	.	.	ENSG00000157827	ENST00000288670	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6433	0.77025	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FMNL2	153125641	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	8.727000	0.91480	2.149000	0.67028	0.533000	0.62120	.		0.428	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905	Intron	4	33	0	0	0	1	0	4	33				
KRT33B	3884	broad.mit.edu	37	17	39525768	39525768	+	Missense_Mutation	SNP	G	G	A	rs538065184		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:39525768G>A	ENST00000251646.3	-	1	284	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	79	Coil 1A.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCGTTGTCCCGCTCCAGCTGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18907	0.001		0.0	False		,,,				2504	0.0					ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(235-237)Cgg>Tgg		keratin 33B							62.0	62.0	62.0					17																	39525768		2203	4297	6500	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39525768G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.235C>T	17.37:g.39525768G>A	ENSP00000251646:p.Arg79Trp						p.R79W	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			1	284	-		Breast(137;0.000496)	79			Coil 1A.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.235C>T	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	N	17.80	3.478145	0.63849	.	.	ENSG00000131738	ENST00000251646	D	0.89196	-2.48	4.41	-0.653	0.11447	Filament (1);	0.111718	0.39759	N	0.001274	D	0.90048	0.6892	L	0.60845	1.875	0.27943	N	0.937449	D	0.71674	0.998	D	0.64877	0.93	T	0.82938	-0.0209	10	0.66056	D	0.02	.	7.4493	0.27229	0.0:0.2416:0.2451:0.5133	.	79	Q14525	KT33B_HUMAN	W	79	ENSP00000251646:R79W	ENSP00000251646:R79W	R	-	1	2	KRT33B	36779294	0.049000	0.20398	0.999000	0.59377	0.996000	0.88848	-0.011000	0.12721	0.135000	0.18707	0.650000	0.86243	CGG		0.607	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		4	150	0	0	0	1	0	4	150				
TMEM145	284339	broad.mit.edu	37	19	42819403	42819403	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:42819403A>T	ENST00000301204.3	+	7	610	c.569A>T	c.(568-570)tAc>tTc	p.Y190F	TMEM145_ENST00000598766.1_Missense_Mutation_p.Y214F	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	190					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.Y190F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ctctcttGTTACTTTGGATGT	0.537																																						ENST00000598766.1																			1	Substitution - Missense(1)	p.Y190F(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(640-642)tAc>tTc		transmembrane protein 145							183.0	159.0	167.0					19																	42819403		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819403A>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.569A>T	19.37:g.42819403A>T	ENSP00000301204:p.Tyr190Phe					TMEM145_ENST00000301204.3_Missense_Mutation_p.Y190F	p.Y214F			Q8NBT3	TM145_HUMAN			7	641	+		Prostate(69;0.00682)	190						Missense_Mutation	SNP	ENST00000301204.3	37	c.641A>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705338	0.48412	.	.	ENSG00000167619	ENST00000301204	T	0.42131	0.98	4.2	4.2	0.49525	Rhodopsin-like GPCR transmembrane domain (1);	0.168624	0.39985	N	0.001204	T	0.34221	0.0890	L	0.53249	1.67	0.47476	D	0.999434	B	0.34181	0.44	B	0.32342	0.144	T	0.10268	-1.0637	10	0.21540	T	0.41	-4.2249	9.9465	0.41611	1.0:0.0:0.0:0.0	.	190	Q8NBT3	TM145_HUMAN	F	190	ENSP00000301204:Y190F	ENSP00000301204:Y190F	Y	+	2	0	TMEM145	47511243	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.918000	0.63376	1.658000	0.50742	0.374000	0.22700	TAC		0.537	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		8	271	0	0	0	1	0	8	271				
WDR20	91833	broad.mit.edu	37	14	102676199	102676199	+	Silent	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:102676199G>A	ENST00000342702.3	+	3	1723	c.1692G>A	c.(1690-1692)gtG>gtA	p.V564V	WDR20_ENST00000335263.5_Splice_Site_p.V564V|WDR20_ENST00000545563.1_Silent_p.V391V|WDR20_ENST00000499851.2_Silent_p.V307V|WDR20_ENST00000424963.2_Silent_p.V440V|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000454394.2_Silent_p.V595V|WDR20_ENST00000556807.1_Splice_Site_p.V503V|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556511.2_Silent_p.V503V	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	564										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CTGGTAAAGTGGTAAGTTTTA	0.408																																						ENST00000335263.5																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.e3+1		WD repeat domain 20							90.0	92.0	92.0					14																	102676199		2203	4300	6503	SO:0001819	synonymous_variant	91833							g.chr14:102676199G>A	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1692G>A	14.37:g.102676199G>A						WDR20_ENST00000342702.3_Silent_p.V564V|WDR20_ENST00000454394.2_Silent_p.V595V|WDR20_ENST00000545563.1_Silent_p.V391V|WDR20_ENST00000424963.2_Silent_p.V440V|WDR20_ENST00000499851.2_Silent_p.V307V|WDR20_ENST00000556807.1_Splice_Site_p.V503_splice|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Silent_p.V503V|WDR20_ENST00000299135.6_3'UTR	p.V564_splice	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN			3	1772	+			564					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Splice_Site	SNP	ENST00000342702.3	37	c.1692_splice	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342162	0.24339	.	.	ENSG00000140153	ENST00000556511	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	T	0.77039	0.4072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74012	-0.3801	4	.	.	.	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	.	.	.	S	495	.	.	G	+	1	0	WDR20	101745952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.467000	0.97671	2.822000	0.97130	0.650000	0.86243	GGT		0.408	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		4	181	0	0	0	1	0	4	181				
SMC1B	27127	broad.mit.edu	37	22	45798245	45798245	+	Silent	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:45798245A>T	ENST00000357450.4	-	5	821	c.822T>A	c.(820-822)acT>acA	p.T274T	SMC1B_ENST00000404354.3_Silent_p.T274T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	274					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)		GTAGTTGTCTAGTTAGCATTC	0.323																																						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.(820-822)acT>acA		structural maintenance of chromosomes 1B							149.0	125.0	133.0					22																	45798245		1849	4085	5934	SO:0001819	synonymous_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45798245A>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.822T>A	22.37:g.45798245A>T						SMC1B_ENST00000404354.3_Silent_p.T274T	p.T274T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	5	821	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	274					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	c.822T>A	CCDS43027.1																																																																																				0.323	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		5	95	0	0	0	1	0	5	95				
LFNG	3955	broad.mit.edu	37	7	2552830	2552830	+	Silent	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:2552830G>A	ENST00000402506.1	+	2	213	c.87G>A	c.(85-87)agG>agA	p.R29R		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)	p.R29R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCTCAGGAAGGCTGTGGGATG	0.532																																						ENST00000402506.1																			1	Substitution - coding silent(1)	p.R29R(1)	kidney(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(85-87)agG>agA		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							159.0	147.0	151.0					7																	2552830		1568	3582	5150	SO:0001819	synonymous_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2552830G>A	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000402506.1:c.87G>A	7.37:g.2552830G>A							p.R29R	NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	2	213	+		Ovarian(82;0.0112)	0					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Silent	SNP	ENST00000402506.1	37	c.87G>A	CCDS55081.1																																																																																				0.532	LFNG-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000325023.1	NM_002304		12	44	0	0	0	1	0	12	44				
KANSL1L	151050	broad.mit.edu	37	2	211018808	211018808	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:211018808G>T	ENST00000281772.9	-	2	762	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	KANSL1L_ENST00000429908.2_5'Flank|KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000457374.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000452086.1_Missense_Mutation_p.Q167K	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	167						histone acetyltransferase complex (GO:0000123)		p.Q167K(1)									TTTTGTAGTTGTACTTTATCT	0.333																																						ENST00000281772.9																			1	Substitution - Missense(1)	p.Q167K(1)	kidney(1)								c.(499-501)Caa>Aaa		KAT8 regulatory NSL complex subunit 1-like							115.0	108.0	110.0					2																	211018808		2203	4300	6503	SO:0001583	missense	151050							g.chr2:211018808G>T	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.499C>A	2.37:g.211018808G>T	ENSP00000281772:p.Gln167Lys					KANSL1L_ENST00000457374.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000452086.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q167K	p.Q167K	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			2	762	-			167					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.499C>A	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	G	0.974	-0.699296	0.03279	.	.	ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.	.	.	5.81	4.89	0.63831	.	0.381555	0.26567	N	0.023660	T	0.25457	0.0619	N	0.24115	0.695	0.18873	N	0.999983	B;B;B;B	0.30236	0.169;0.274;0.264;0.137	B;B;B;B	0.30401	0.079;0.115;0.085;0.085	T	0.15694	-1.0428	9	0.06236	T	0.91	.	11.9776	0.53100	0.0711:0.1339:0.795:0.0	.	167;167;167;167	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.;.;.;CB067_HUMAN	K	167	.	ENSP00000281772:Q167K	Q	-	1	0	C2orf67	210727053	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	1.840000	0.39230	2.765000	0.95021	0.558000	0.71614	CAA		0.333	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		20	36	1	0	3.99206e-14	1	4.68342e-14	20	36				
NCOA4	8031	broad.mit.edu	37	10	51580882	51580882	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:51580882A>T	ENST00000443446.1	+	4	514	c.285A>T	c.(283-285)ttA>ttT	p.L95F	NCOA4_ENST00000344348.6_Missense_Mutation_p.L95F|NCOA4_ENST00000374087.4_Missense_Mutation_p.L95F|NCOA4_ENST00000452682.1_Missense_Mutation_p.L111F|NCOA4_ENST00000374082.1_Missense_Mutation_p.L95F|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000438493.1_Missense_Mutation_p.L111F|NCOA4_ENST00000498586.1_3'UTR	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	95					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCTTTTAGTTATTGGGCCAGT	0.393			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(331-333)ttA>ttT		nuclear receptor coactivator 4							132.0	128.0	130.0					10																	51580882		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51580882A>T	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.285A>T	10.37:g.51580882A>T	ENSP00000390713:p.Leu95Phe					NCOA4_ENST00000374087.4_Missense_Mutation_p.L95F|NCOA4_ENST00000443446.1_Missense_Mutation_p.L95F|NCOA4_ENST00000344348.6_Missense_Mutation_p.L95F|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000438493.1_Missense_Mutation_p.L111F|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000374082.1_Missense_Mutation_p.L95F	p.L111F	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			5	585	+			95					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.333A>T	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488140	0.64074	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000374087;ENST00000330923;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.51	0.485	0.16830	.	0.169282	0.39985	N	0.001206	T	0.42966	0.1226	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.984	T	0.21999	-1.0229	10	0.41790	T	0.15	-4.8012	5.1946	0.15230	0.3793:0.316:0.3047:0.0	.	111;111;95	B4E260;E9PAV7;Q13772	.;.;NCOA4_HUMAN	F	111;111;95;95;95;95;95	ENSP00000405146:L111F;ENSP00000395465:L111F;ENSP00000363200:L95F;ENSP00000344552:L95F;ENSP00000363195:L95F;ENSP00000390713:L95F	ENSP00000332421:L95F	L	+	3	2	NCOA4	51250888	0.000000	0.05858	0.949000	0.38748	0.976000	0.68499	-0.377000	0.07456	0.060000	0.16281	0.378000	0.23410	TTA		0.393	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		3	37	0	0	0	1	0	3	37				
GOLGA4	2803	broad.mit.edu	37	3	37367635	37367635	+	Missense_Mutation	SNP	A	A	G	rs146784733		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:37367635A>G	ENST00000361924.2	+	14	4632	c.4258A>G	c.(4258-4260)Aaa>Gaa	p.K1420E	GOLGA4_ENST00000356847.4_Missense_Mutation_p.K1442E|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1420	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTATCTTTTAAAGTTGACAC	0.373																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4258-4260)Aaa>Gaa		golgin A4		A	GLU/LYS,GLU/LYS	2,4390		0,2,2194	58.0	63.0	61.0		4324,4258	4.1	0.5	3	dbSNP_134	61	0,8594		0,0,4297	no	missense,missense	GOLGA4	NM_001172713.1,NM_002078.4	56,56	0,2,6491	GG,GA,AA		0.0,0.0455,0.0154	probably-damaging,probably-damaging	1442/2244,1420/2231	37367635	2,12984	2196	4297	6493	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367635A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4258A>G	3.37:g.37367635A>G	ENSP00000354486:p.Lys1420Glu					GOLGA4_ENST00000356847.4_Missense_Mutation_p.K1442E|GOLGA4_ENST00000444882.1_Intron	p.K1420E	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	4632	+			1420			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.4258A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	5.433	0.265011	0.10294	4.55E-4	0.0	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.25250	1.82;1.81;1.81	5.25	4.06	0.47325	.	0.406531	0.18233	N	0.147516	T	0.23727	0.0574	M	0.72118	2.19	0.09310	N	1	P;P;P;P	0.43094	0.617;0.465;0.465;0.799	B;B;B;B	0.37144	0.242;0.124;0.124;0.115	T	0.18461	-1.0336	10	0.06757	T	0.87	.	12.1922	0.54278	0.8572:0.1428:0.0:0.0	.	1420;1420;1442;1420	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	E	1420;1442;1291	ENSP00000354486:K1420E;ENSP00000349305:K1442E;ENSP00000405842:K1291E	ENSP00000349305:K1442E	K	+	1	0	GOLGA4	37342639	0.528000	0.26314	0.540000	0.28089	0.172000	0.22775	4.183000	0.58317	0.807000	0.34208	0.460000	0.39030	AAA		0.373	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		3	97	0	0	0	1	0	3	97				
DENND2C	163259	broad.mit.edu	37	1	115141947	115141947	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:115141947A>T	ENST00000393274.1	-	16	2856	c.2231T>A	c.(2230-2232)aTt>aAt	p.I744N	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000393276.3_Missense_Mutation_p.I687N	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	744	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGATTCCAATAAGGAATGG	0.458																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(2230-2232)aTt>aAt		DENN/MADD domain containing 2C							172.0	146.0	154.0					1																	115141947		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115141947A>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2231T>A	1.37:g.115141947A>T	ENSP00000376955:p.Ile744Asn					DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.I687N|DENND2C_ENST00000393277.1_Intron	p.I744N	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2856	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	744			DENN.		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.2231T>A	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.876141	0.91664	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540	T;T	0.16073	2.37;2.37	5.81	5.81	0.92471	DENN (3);	0.000000	0.85682	U	0.000000	T	0.44540	0.1298	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.987	T	0.57923	-0.7727	10	0.87932	D	0	.	16.2128	0.82178	1.0:0.0:0.0:0.0	.	744;687	Q68D51;Q68D51-3	DEN2C_HUMAN;.	N	687;744;744	ENSP00000376957:I687N;ENSP00000376955:I744N	ENSP00000358553:I744N	I	-	2	0	DENND2C	114943470	1.000000	0.71417	0.978000	0.43139	0.987000	0.75469	8.832000	0.92079	2.234000	0.73211	0.524000	0.50904	ATT		0.458	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		5	132	0	0	0	1	0	5	132				
SLC4A1AP	22950	broad.mit.edu	37	2	27886994	27886994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:27886994C>A	ENST00000326019.6	+	1	657	c.375C>A	c.(373-375)tgC>tgA	p.C125*	SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000404798.2_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	125						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)					AGCCGGACTGCGGTGATTTTA	0.627																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(373-375)tgC>tgA		solute carrier family 4 (anion exchanger), member 1, adaptor protein							49.0	55.0	53.0					2																	27886994		2203	4300	6503	SO:0001587	stop_gained	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27886994C>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.375C>A	2.37:g.27886994C>A	ENSP00000323837:p.Cys125*						p.C125*	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			1	657	+	Acute lymphoblastic leukemia(172;0.155)		125					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Nonsense_Mutation	SNP	ENST00000326019.6	37	c.375C>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825682	0.90955	.	.	ENSG00000163798	ENST00000326019	.	.	.	4.4	0.469	0.16741	.	0.938371	0.08906	N	0.876548	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	0.5761	1.0886	0.01659	0.1566:0.4192:0.1527:0.2715	.	.	.	.	X	125	.	ENSP00000323837:C125X	C	+	3	2	SLC4A1AP	27740498	0.546000	0.26457	0.000000	0.03702	0.011000	0.07611	0.176000	0.16782	-0.031000	0.13781	-0.266000	0.10368	TGC		0.627	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		10	126	1	0	0.000442599	1	0.000471806	10	126				
APH1B	83464	broad.mit.edu	37	15	63579621	63579621	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:63579621A>T	ENST00000261879.5	+	4	425		c.e4-1		APH1B_ENST00000380343.4_Intron	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit						apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTCCTGTTTAGTTTCTGGCT	0.433																																						ENST00000261879.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						c.e4-1		APH1B gamma secretase subunit							280.0	282.0	281.0					15																	63579621		2203	4300	6503	SO:0001630	splice_region_variant	83464				apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding	g.chr15:63579621A>T	AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.356-1A>T	15.37:g.63579621A>T						APH1B_ENST00000380343.4_Intron		NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN			4	425	+								A8K589|Q564N3|Q6UWQ1|Q9H0S0	Splice_Site	SNP	ENST00000261879.5	37		CCDS10184.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898197	0.72639	.	.	ENSG00000138613	ENST00000261879	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3516	0.60605	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APH1B	61366674	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	8.743000	0.91592	2.027000	0.59764	0.383000	0.25322	.		0.433	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301	Intron	10	435	0	0	0	1	0	10	435				
SLC4A8	9498	broad.mit.edu	37	12	51853894	51853894	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:51853894T>A	ENST00000453097.2	+	8	1230		c.e8+2		SLC4A8_ENST00000514353.3_Splice_Site|SLC4A8_ENST00000358657.3_Splice_Site|SLC4A8_ENST00000394856.1_Splice_Site|SLC4A8_ENST00000535225.2_Splice_Site	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCCAACAAGGTAAAGGCAAAG	0.383																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.e8+2		solute carrier family 4, sodium bicarbonate cotransporter, member 8							138.0	135.0	136.0					12																	51853894		2203	4300	6503	SO:0001630	splice_region_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51853894T>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1013+2T>A	12.37:g.51853894T>A						SLC4A8_ENST00000535225.2_Splice_Site|SLC4A8_ENST00000514353.3_Splice_Site|SLC4A8_ENST00000394856.1_Splice_Site|SLC4A8_ENST00000358657.3_Splice_Site		NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	8	1230	+									Splice_Site	SNP	ENST00000453097.2	37		CCDS44890.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639555	0.87760	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6856	0.69047	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A8	50140161	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.994000	0.88315	2.183000	0.69458	0.533000	0.62120	.		0.383	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858	Intron	7	344	0	0	0	1	0	7	344				
TOB2	10766	broad.mit.edu	37	22	41832382	41832382	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr22:41832382A>G	ENST00000327492.3	-	2	1674	c.968T>C	c.(967-969)cTc>cCc	p.L323P		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	323					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L323P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTTGTAGCTGAGGCCTTCCAC	0.602																																						ENST00000327492.3																			1	Substitution - Missense(1)	p.L323P(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(967-969)cTc>cCc		transducer of ERBB2, 2							103.0	97.0	99.0					22																	41832382		2203	4300	6503	SO:0001583	missense	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41832382A>G	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.968T>C	22.37:g.41832382A>G	ENSP00000331305:p.Leu323Pro						p.L323P	NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN			2	1674	-			323					Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	c.968T>C	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965364	0.74131	.	.	ENSG00000183864	ENST00000327492	T	0.71341	-0.56	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000002	D	0.83069	0.5174	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84499	0.0615	10	0.66056	D	0.02	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	323	Q14106	TOB2_HUMAN	P	323	ENSP00000331305:L323P	ENSP00000331305:L323P	L	-	2	0	TOB2	40162328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.904000	0.92590	2.254000	0.74563	0.533000	0.62120	CTC		0.602	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		58	236	0	0	0	1	0	58	236				
RB1	5925	broad.mit.edu	37	13	48942661	48942661	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr13:48942661A>T	ENST00000267163.4	+	11	1187		c.e11-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATTGTTATTTAGTTTTGAAAC	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		22	Whole gene deletion(15)|Unknown(7)	p.0?(15)|p.?(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS942041	RB1	S		c.e11-1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						89.0	84.0	86.0					13																	48942661		2203	4297	6500	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48942661A>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1050-1A>T	13.37:g.48942661A>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)						NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	11	1187	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37		CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.127421	0.37533	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6242	0.68608	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47840662	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	3.937000	0.56575	2.281000	0.76405	0.533000	0.62120	.		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	4	104	0	0	0	1	0	4	104				
ZBTB49	166793	broad.mit.edu	37	4	4304683	4304683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:4304683G>T	ENST00000337872.4	+	3	1241	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.E374*	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	374					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TAGTGAGACGGAGAGGCCTGA	0.458																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1120-1122)Gag>Tag		zinc finger and BTB domain containing 49							45.0	49.0	48.0					4																	4304683		2203	4300	6503	SO:0001587	stop_gained	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4304683G>T	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1120G>T	4.37:g.4304683G>T	ENSP00000338807:p.Glu374*					ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.E374*|ZBTB49_ENST00000538529.1_5'UTR	p.E374*	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			3	1241	+			374					Q59FJ4|Q5EBN0|Q8TB80	Nonsense_Mutation	SNP	ENST00000337872.4	37	c.1120G>T	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	37	6.098995	0.97281	.	.	ENSG00000168826	ENST00000355834;ENST00000337872	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9098	0.70746	0.0:0.0:0.8568:0.1432	.	.	.	.	X	374	.	ENSP00000338807:E374X	E	+	1	0	ZBTB49	4355584	1.000000	0.71417	0.223000	0.23860	0.099000	0.18886	3.969000	0.56816	2.832000	0.97577	0.655000	0.94253	GAG		0.458	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		6	103	1	0	0.00198382	1	0.00212461	6	103				
ERCC6L2	375748	broad.mit.edu	37	9	98678671	98678671	+	Silent	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr9:98678671C>A	ENST00000288985.7	+	6	1451	c.1146C>A	c.(1144-1146)cgC>cgA	p.R382R	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.R193R	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	382					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TTCTCAGGCGCACCAAGACTC	0.428																																						ENST00000288985.7																			0											c.(1144-1146)cgC>cgA		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							63.0	67.0	66.0					9																	98678671		2203	4300	6503	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98678671C>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1146C>A	9.37:g.98678671C>A						ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.R193R	p.R382R	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			6	1451	+			382					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000288985.7	37	c.1146C>A	CCDS35072.1																																																																																				0.428	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		17	194	1	0	8.00594e-06	1	9.10264e-06	17	194				
ZNF564	163050	broad.mit.edu	37	19	12637723	12637723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:12637723C>T	ENST00000339282.7	-	4	1395	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTCAAAGGCTCTACCACATAC	0.433																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1198-1200)aGa>aAa		zinc finger protein 564							140.0	144.0	143.0					19																	12637723		2203	4300	6503	SO:0001583	missense	163050							g.chr19:12637723C>T	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1199G>A	19.37:g.12637723C>T	ENSP00000340004:p.Arg400Lys					ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	p.R400K	NM_144976.3	NP_659413.1					4	1395	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.1199G>A	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	7.051	0.564517	0.13498	.	.	ENSG00000249709	ENST00000339282	T	0.07114	3.22	1.56	0.263	0.15602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	N	0.00605	-1.335	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46414	-0.9193	9	0.02654	T	1	.	5.0091	0.14302	0.0:0.2327:0.0:0.7673	.	400	Q8TBZ8	ZN564_HUMAN	K	400	ENSP00000340004:R400K	ENSP00000340004:R400K	R	-	2	0	ZNF564	12498723	0.565000	0.26610	0.010000	0.14722	0.890000	0.51754	0.515000	0.22801	0.050000	0.15949	0.643000	0.83706	AGA		0.433	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		4	211	0	0	0	1	0	4	211				
TAF1	6872	broad.mit.edu	37	X	70626490	70626490	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chrX:70626490C>T	ENST00000373790.4	+	26	4049	c.3998C>T	c.(3997-3999)gCg>gTg	p.A1333V	TAF1_ENST00000423759.1_Missense_Mutation_p.A1354V|TAF1_ENST00000276072.3_Missense_Mutation_p.A1354V|TAF1_ENST00000449580.1_Missense_Mutation_p.A1333V	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1333					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATTTTAGTGCGGATGAGGTT	0.408																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3997-3999)gCg>gTg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							94.0	81.0	86.0					X																	70626490		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70626490C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3998C>T	X.37:g.70626490C>T	ENSP00000362895:p.Ala1333Val					TAF1_ENST00000276072.3_Missense_Mutation_p.A1354V|TAF1_ENST00000423759.1_Missense_Mutation_p.A1354V|TAF1_ENST00000373790.4_Missense_Mutation_p.A1333V	p.A1333V			P21675	TAF1_HUMAN			26	4049	+	Renal(35;0.156)	all_lung(315;0.000321)	1333					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3998C>T	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	25.7|25.7	4.660620|4.660620	0.88154|0.88154	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072|ENST00000483985	T;T;T;T|.	0.10005|.	2.92;3.0;2.98;2.92|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.046866|.	0.85682|.	D|.	0.000000|.	T|T	0.70422|0.70422	0.3222|0.3222	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	B;P;B|.	0.42692|.	0.013;0.787;0.018|.	B;B;B|.	0.29176|.	0.015;0.099;0.006|.	T|T	0.68903|0.68903	-0.5286|-0.5286	10|5	0.36615|.	T|.	0.2|.	.|.	17.4602|17.4602	0.87618|0.87618	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1333;1333;1354|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	V|W	1333;1333;1354;39;39;1354|244	ENSP00000362895:A1333V;ENSP00000389000:A1333V;ENSP00000406549:A1354V;ENSP00000276072:A1354V|.	ENSP00000276072:A1354V|.	A|R	+|+	2|1	0|2	TAF1|TAF1	70543215|70543215	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.909000|0.909000	0.53808|0.53808	7.176000|7.176000	0.77643|0.77643	2.307000|2.307000	0.77673|0.77673	0.464000|0.464000	0.42555|0.42555	GCG|CGG		0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		3	63	0	0	0	1	0	3	63				
SDK2	54549	broad.mit.edu	37	17	71380143	71380143	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:71380143G>T	ENST00000392650.3	-	33	4577	c.4577C>A	c.(4576-4578)gCa>gAa	p.A1526E	SDK2_ENST00000388726.3_Missense_Mutation_p.A1526E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1526	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTTGTCCTCTGCTGGCGGCTG	0.617																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4576-4578)gCa>gAa		sidekick cell adhesion molecule 2							59.0	50.0	53.0					17																	71380143		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71380143G>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4577C>A	17.37:g.71380143G>T	ENSP00000376421:p.Ala1526Glu					SDK2_ENST00000388726.3_Missense_Mutation_p.A1526E	p.A1526E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			33	4577	-			1526			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4577C>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	g	11.23	1.578828	0.28180	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.56275	0.47;0.47;0.47	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.551000	0.20305	N	0.094951	T	0.46328	0.1387	L	0.39514	1.22	0.24636	N	0.993591	B;B;B	0.18741	0.03;0.013;0.003	B;B;B	0.19666	0.015;0.026;0.009	T	0.24584	-1.0156	10	0.12766	T	0.61	.	19.2002	0.93708	0.0:0.0:1.0:0.0	.	1526;1526;1526	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	E	1150;1526;1526;702;1526	ENSP00000376421:A1526E;ENSP00000373378:A1526E;ENSP00000407098:A702E	ENSP00000324967:A1526E	A	-	2	0	SDK2	68891738	0.990000	0.36364	0.009000	0.14445	0.512000	0.34134	6.523000	0.73787	2.630000	0.89119	0.651000	0.88453	GCA		0.617	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		4	35	1	0	0.000602214	1	0.00064914	4	35				
TRIM38	10475	broad.mit.edu	37	6	25983850	25983850	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:25983850A>G	ENST00000357085.3	+	8	1809	c.1333A>G	c.(1333-1335)Act>Gct	p.T445A	TRIM38_ENST00000349458.3_Missense_Mutation_p.T445A|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	445	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CTTCTCTGATACTCTCCGGCC	0.463																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(1333-1335)Act>Gct		tripartite motif containing 38							70.0	70.0	70.0					6																	25983850		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25983850A>G	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1333A>G	6.37:g.25983850A>G	ENSP00000349596:p.Thr445Ala					TRIM38_ENST00000349458.3_Missense_Mutation_p.T445A	p.T445A	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			8	1809	+			445			B30.2/SPRY.		B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.1333A>G	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	6.986	0.552027	0.13374	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.60797	0.16;0.16;0.16	3.98	2.82	0.32997	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.269718	0.26847	N	0.022183	T	0.16385	0.0394	L	0.38175	1.15	0.09310	N	1	B;B	0.28419	0.211;0.211	B;B	0.25614	0.062;0.062	T	0.31613	-0.9937	10	0.02654	T	1	.	7.8819	0.29627	0.899:0.0:0.101:0.0	.	445;445	B2R862;O00635	.;TRI38_HUMAN	A	445	ENSP00000443976:T445A;ENSP00000230099:T445A;ENSP00000349596:T445A	ENSP00000230099:T445A	T	+	1	0	TRIM38	26091829	0.000000	0.05858	0.010000	0.14722	0.434000	0.31775	0.093000	0.15086	0.872000	0.35775	0.533000	0.62120	ACT		0.463	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			6	138	0	0	0	1	0	6	138				
SMU1	55234	broad.mit.edu	37	9	33057663	33057663	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr9:33057663A>G	ENST00000397149.3	-	7	850	c.800T>C	c.(799-801)gTc>gCc	p.V267A	SMU1_ENST00000536631.1_Missense_Mutation_p.V106A	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	267						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATGCAGAGGACAGCATCATC	0.418																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(799-801)gTc>gCc		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							164.0	150.0	155.0					9																	33057663		2203	4300	6503	SO:0001583	missense	55234					cytoplasm|nucleus		g.chr9:33057663A>G	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.800T>C	9.37:g.33057663A>G	ENSP00000380336:p.Val267Ala					SMU1_ENST00000536631.1_Missense_Mutation_p.V106A	p.V267A	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	7	850	-			267					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Missense_Mutation	SNP	ENST00000397149.3	37	c.800T>C	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743362	0.89663	.	.	ENSG00000122692	ENST00000397149;ENST00000536631	T;T	0.73789	-0.78;-0.78	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85301	0.5665	M	0.79475	2.455	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.68765	0.96;0.94;0.96	D	0.87048	0.2145	10	0.72032	D	0.01	-22.9648	14.0949	0.65013	1.0:0.0:0.0:0.0	.	267;106;267	A0MNN4;B4E3L0;Q2TAY7	.;.;SMU1_HUMAN	A	267;106	ENSP00000380336:V267A;ENSP00000443639:V106A	ENSP00000380336:V267A	V	-	2	0	SMU1	33047663	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.179000	0.94861	2.265000	0.75225	0.482000	0.46254	GTC		0.418	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		3	139	0	0	0	1	0	3	139				
COL16A1	1307	broad.mit.edu	37	1	32151357	32151357	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:32151357C>T	ENST00000373672.3	-	29	2415	c.1899G>A	c.(1897-1899)gaG>gaA	p.E633E	COL16A1_ENST00000373668.3_Silent_p.E633E|COL16A1_ENST00000271069.6_Silent_p.E632E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	633	Collagen-like 2.|Nonhelical region 7 (NC7).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGGCACGGCTCACAGGGCT	0.627																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(1897-1899)gaG>gaA		collagen, type XVI, alpha 1							95.0	103.0	100.0					1																	32151357		1933	4118	6051	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32151357C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1899G>A	1.37:g.32151357C>T						COL16A1_ENST00000373668.3_Silent_p.E633E|COL16A1_ENST00000271069.6_Silent_p.E632E	p.E633E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	29	2415	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	633			Nonhelical region 7 (NC7).		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.1899G>A	CCDS41297.1																																																																																				0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		3	98	0	0	0	1	0	3	98				
OR4C13	283092	broad.mit.edu	37	11	49974717	49974717	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:49974717C>T	ENST00000555099.1	+	1	775	c.743C>T	c.(742-744)tCc>tTc	p.S248F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S248F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GTCATCTTATCCTTTATACCC	0.433																																						ENST00000555099.1																			1	Substitution - Missense(1)	p.S248F(1)	kidney(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(742-744)tCc>tTc		olfactory receptor, family 4, subfamily C, member 13							181.0	162.0	169.0					11																	49974717		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974717C>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.743C>T	11.37:g.49974717C>T	ENSP00000452277:p.Ser248Phe						p.S248F	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	775	+			248					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.743C>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.707587	0.00005	.	.	ENSG00000258817	ENST00000555099	T	0.00013	9.27	2.91	1.75	0.24633	GPCR, rhodopsin-like superfamily (1);	0.280860	0.25668	N	0.029100	T	0.00012	0.0000	N	0.00026	-2.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31024	-0.9958	9	.	.	.	.	6.498	0.22153	0.0:0.1284:0.0:0.8716	.	248	Q8NGP0	OR4CD_HUMAN	F	248	ENSP00000452277:S248F	.	S	+	2	0	OR4C13	49931293	0.003000	0.15002	0.011000	0.14972	0.006000	0.05464	0.439000	0.21575	0.333000	0.23563	-1.497000	0.00963	TCC		0.433	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		44	318	0	0	0	1	0	44	318				
TTN	7273	broad.mit.edu	37	2	179615716	179615716	+	Intron	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:179615716G>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T3804I|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTATTTCAGTCTGGAAAAT	0.348																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11410-11412)aCt>aTt		titin							116.0	126.0	123.0					2																	179615716		2198	4293	6491	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615716G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2134C>T	2.37:g.179615716G>A						TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron	p.T3804I	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11633	-			9641					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11411C>T		.	.	.	.	.	.	.	.	.	.	G	14.74	2.626073	0.46840	.	.	ENSG00000155657	ENST00000360870	T	0.57907	0.37	5.33	3.46	0.39613	.	.	.	.	.	T	0.28962	0.0719	N	0.12182	0.205	0.09310	N	0.99999	B	0.10296	0.003	B	0.08055	0.003	T	0.09997	-1.0649	9	0.37606	T	0.19	.	2.1019	0.03682	0.1579:0.168:0.5004:0.1737	.	3804	Q8WZ42-6	.	I	3804	ENSP00000354117:T3804I	ENSP00000354117:T3804I	T	-	2	0	TTN	179323961	0.922000	0.31269	0.082000	0.20525	0.227000	0.25037	1.784000	0.38674	1.327000	0.45338	0.655000	0.94253	ACT		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	153	0	0	0	1	0	7	153				
NLGN1	22871	broad.mit.edu	37	3	173525588	173525588	+	Silent	SNP	C	C	T	rs148161018		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:173525588C>T	ENST00000457714.1	+	4	1041	c.612C>T	c.(610-612)atC>atT	p.I204I	NLGN1_ENST00000545397.1_Silent_p.I204I|NLGN1_ENST00000361589.4_Silent_p.I204I|NLGN1_ENST00000401917.3_Silent_p.I244I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	221					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.I204I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GCAATGTGATCGTCATCACAG	0.403																																						ENST00000457714.1																			1	Substitution - coding silent(1)	p.I204I(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(610-612)atC>atT		neuroligin 1		C		1,4405	2.1+/-5.4	0,1,2202	168.0	159.0	162.0		612	2.4	1.0	3	dbSNP_134	162	0,8600		0,0,4300	no	coding-synonymous	NLGN1	NM_014932.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		204/824	173525588	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173525588C>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.612C>T	3.37:g.173525588C>T						NLGN1_ENST00000545397.1_Silent_p.I204I|NLGN1_ENST00000361589.4_Silent_p.I204I|NLGN1_ENST00000401917.3_Silent_p.I244I	p.I204I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		4	1041	+	Ovarian(172;0.0025)		221					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.612C>T	CCDS3222.1																																																																																				0.403	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		18	60	0	0	0	1	0	18	60				
MCM8	84515	broad.mit.edu	37	20	5958578	5958578	+	Silent	SNP	C	C	T	rs113442872	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:5958578C>T	ENST00000378896.3	+	13	1829	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	MCM8_ENST00000378883.1_Silent_p.T437T|MCM8_ENST00000378886.2_Silent_p.T524T|MCM8_ENST00000265187.4_Silent_p.T468T	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	484	MCM.|Thr-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T484T(1)|p.T468T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CCACGACCACCTCTGGTCTGA	0.473																																						ENST00000378896.3																			2	Substitution - coding silent(2)	p.T484T(1)|p.T468T(1)	lung(2)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1450-1452)acC>acT		minichromosome maintenance complex component 8		C	,	4,4402	8.1+/-20.4	0,4,2199	112.0	94.0	100.0		1452,1404	-1.2	1.0	20	dbSNP_132	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MCM8	NM_032485.4,NM_182802.1	,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,	484/841,468/825	5958578	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5958578C>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1452C>T	20.37:g.5958578C>T						MCM8_ENST00000378883.1_Silent_p.T437T|MCM8_ENST00000378886.2_Silent_p.T524T|MCM8_ENST00000265187.4_Silent_p.T468T	p.T484T	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			13	1829	+			484			MCM.|Thr-rich.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	ENST00000378896.3	37	c.1452C>T	CCDS13094.1																																																																																				0.473	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		5	182	0	0	0	1	0	5	182				
ZBTB49	166793	broad.mit.edu	37	4	4322531	4322531	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:4322531C>A	ENST00000337872.4	+	8	1907	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M	RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000538529.1_Missense_Mutation_p.L79M|ZBTB49_ENST00000355834.3_Missense_Mutation_p.L474M	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	596					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.L596M(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CCCAGATGTGCTGGAGGAGCT	0.557																																						ENST00000337872.4																			1	Substitution - Missense(1)	p.L596M(1)	kidney(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1786-1788)Ctg>Atg		zinc finger and BTB domain containing 49							62.0	57.0	58.0					4																	4322531		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322531C>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1786C>A	4.37:g.4322531C>A	ENSP00000338807:p.Leu596Met					ZBTB49_ENST00000355834.3_Missense_Mutation_p.L474M|ZBTB49_ENST00000538529.1_Missense_Mutation_p.L79M	p.L596M	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			8	1907	+			596					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1786C>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608249	0.46527	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.15017	2.46;2.8;3.11	4.57	3.71	0.42584	.	0.768893	0.10553	N	0.661237	T	0.37652	0.1011	M	0.65975	2.015	0.09310	N	1	D;P	0.58620	0.983;0.833	P;B	0.58873	0.847;0.336	T	0.21655	-1.0239	10	0.52906	T	0.07	.	14.7835	0.69784	0.0:0.8546:0.1454:0.0	.	474;596	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	M	474;596;79	ENSP00000348091:L474M;ENSP00000338807:L596M;ENSP00000445653:L79M	ENSP00000338807:L596M	L	+	1	2	ZBTB49	4373432	0.003000	0.15002	0.005000	0.12908	0.143000	0.21401	1.148000	0.31614	1.031000	0.39867	0.455000	0.32223	CTG		0.557	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		14	50	1	0	7.07596e-05	1	7.83073e-05	14	50				
ICE1	23379	broad.mit.edu	37	5	5462929	5462929	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:5462929T>G	ENST00000296564.7	+	13	3704	c.3482T>G	c.(3481-3483)aTa>aGa	p.I1161R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1161					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.I1161R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATTTTAACATAAGTACTTTT	0.428																																						ENST00000296564.7																			1	Substitution - Missense(1)	p.I1161R(1)	kidney(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(3481-3483)aTa>aGa		KIAA0947							82.0	76.0	78.0					5																	5462929		1868	4119	5987	SO:0001583	missense	23379							g.chr5:5462929T>G																												ENST00000296564.7:c.3482T>G	5.37:g.5462929T>G	ENSP00000296564:p.Ile1161Arg						p.I1161R	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	3704	+			1161					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.3482T>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.815305	0.90790	.	.	ENSG00000164151	ENST00000296564	T	0.12984	2.63	5.14	5.14	0.70334	.	.	.	.	.	T	0.21509	0.0518	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	D	0.64237	0.923	T	0.08576	-1.0715	9	0.66056	D	0.02	-3.0355	11.3412	0.49533	0.0:0.0:0.0:1.0	.	1161	Q9Y2F5	K0947_HUMAN	R	1161	ENSP00000296564:I1161R	ENSP00000296564:I1161R	I	+	2	0	KIAA0947	5515929	0.013000	0.17824	0.003000	0.11579	0.973000	0.67179	1.597000	0.36729	1.935000	0.56089	0.254000	0.18369	ATA		0.428	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			14	28	0	0	0	1	0	14	28				
KIAA1109	84162	broad.mit.edu	37	4	123161078	123161078	+	Missense_Mutation	SNP	C	C	T	rs75959726		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:123161078C>T	ENST00000264501.4	+	29	4614	c.4241C>T	c.(4240-4242)cCg>cTg	p.P1414L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1414L|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1414L			Q2LD37	K1109_HUMAN	KIAA1109	1414					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAACTTATCCGGGTAGAAAA	0.453																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(4240-4242)cCg>cTg		KIAA1109							51.0	47.0	48.0					4																	123161078		1855	4106	5961	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123161078C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4241C>T	4.37:g.123161078C>T	ENSP00000264501:p.Pro1414Leu					KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1414L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1414L|KIAA1109_ENST00000495260.1_3'UTR	p.P1414L			Q2LD37	K1109_HUMAN			29	4614	+			1414					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.4241C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655840	0.88056	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.36157	1.9;1.9;1.27	6.05	6.05	0.98169	.	0.000000	0.44483	U	0.000460	T	0.49098	0.1537	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.32025	-0.9922	10	0.32370	T	0.25	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	1413;1414	Q2LD37-2;Q2LD37	.;K1109_HUMAN	L	1414	ENSP00000264501:P1414L;ENSP00000373390:P1414L;ENSP00000389925:P1414L	ENSP00000264501:P1414L	P	+	2	0	KIAA1109	123380528	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	7.368000	0.79567	2.878000	0.98634	0.650000	0.86243	CCG		0.453	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		3	126	0	0	0	1	0	3	126				
SYT5	6861	broad.mit.edu	37	19	55686318	55686318	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:55686318G>A	ENST00000354308.3	-	7	1127	c.758C>T	c.(757-759)gCc>gTc	p.A253V	SYT5_ENST00000537500.1_Missense_Mutation_p.A253V|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000590851.1_Missense_Mutation_p.A249V	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	253	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGCTTCCCGGCCGTGGGGAC	0.602																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(757-759)gCc>gTc		synaptotagmin V							105.0	100.0	102.0					19																	55686318		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55686318G>A	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.758C>T	19.37:g.55686318G>A	ENSP00000346265:p.Ala253Val					SYT5_ENST00000537500.1_Missense_Mutation_p.A253V|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.A249V	p.A253V	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1127	-			253			C2 2.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.758C>T	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472590	0.96274	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.71698	-0.59;-0.59	3.87	3.87	0.44632	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.68593	2.085	0.58432	D	0.999999	P;P;P	0.50156	0.865;0.932;0.757	B;B;B	0.40101	0.272;0.144;0.319	T	0.77143	-0.2696	10	0.87932	D	0	.	15.4552	0.75308	0.0:0.0:1.0:0.0	.	249;252;253	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	V	253;253;249	ENSP00000442896:A253V;ENSP00000346265:A253V	ENSP00000346265:A253V	A	-	2	0	SYT5	60378130	1.000000	0.71417	0.995000	0.50966	0.742000	0.42306	7.684000	0.84104	2.116000	0.64780	0.305000	0.20034	GCC		0.602	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		4	144	0	0	0	1	0	4	144				
PKD1L2	114780	broad.mit.edu	37	16	81209300	81209300	+	RNA	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:81209300A>G	ENST00000527937.1	-	0	374				PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTCCTCTCCAAGTGGCAGAT	0.552																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2491-2493)ctT>ctC		polycystic kidney disease 1-like 2							101.0	101.0	101.0					16																	81209300		2050	4199	6249			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81209300A>G	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81209300A>G						PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.L831L			Q7Z442	PK1L2_HUMAN			15	2492	-			831			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000527937.1	37	c.2493T>C		.	.	.	.	.	.	.	.	.	.	A	9.667	1.145626	0.21288	.	.	ENSG00000166473	ENST00000526632	.	.	.	4.82	3.73	0.42828	.	.	.	.	.	T	0.57799	0.2078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52313	-0.8592	4	.	.	.	-8.1523	8.0388	0.30508	0.9054:0.0:0.0946:0.0	.	.	.	.	R	359	.	.	W	-	1	0	PKD1L2	79766801	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.176000	0.42500	0.711000	0.32018	0.374000	0.22700	TGG		0.552	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			4	157	0	0	0	1	0	4	157				
LY6G5C	80741	broad.mit.edu	37	6	31647002	31647002	+	Silent	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:31647002T>C	ENST00000383237.4	-	2	168	c.165A>G	c.(163-165)ccA>ccG	p.P55P	LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375858.3_Silent_p.P52P|LY6G5C_ENST00000375860.2_Silent_p.P53P			Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	55						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						ATTTGGGGAATGGAAGTGGTT	0.547																																						ENST00000375858.3																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						c.(154-156)ccA>ccG		lymphocyte antigen 6 complex, locus G5C							207.0	184.0	192.0					6																	31647002		1511	2709	4220	SO:0001819	synonymous_variant	80741					extracellular region		g.chr6:31647002T>C		CCDS34401.1, CCDS34401.2	6p21	2010-02-17	2002-07-29	2002-08-01	ENSG00000204428	ENSG00000204428			13932	protein-coding gene	gene with protein product		610434	"""chromosome 6 open reading frame 20"""	C6orf20		12079290	Standard	NM_025262		Approved	G5c, NG33	uc003nvu.2	Q5SRR4	OTTHUMG00000031228	ENST00000383237.4:c.165A>G	6.37:g.31647002T>C						LY6G5C_ENST00000383237.4_Silent_p.P55P|LY6G5C_ENST00000375860.2_Silent_p.P53P|LY6G5C_ENST00000474395.1_5'UTR	p.P52P	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN			2	164	-			55					A6NCW4|B0UXB3|B0UXB4|B0UZ69|B0UZQ0|B1B0L9|O95871|Q5SQ59|Q8NDY0|Q8NDY1	Silent	SNP	ENST00000383237.4	37	c.156A>G	CCDS34401.2	.	.	.	.	.	.	.	.	.	.	T	8.248	0.808267	0.16467	.	.	ENSG00000204428	ENST00000375863	.	.	.	3.46	-6.46	0.01908	.	.	.	.	.	T	0.04907	0.0132	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30794	-0.9966	4	.	.	.	-19.8807	0.3816	0.00396	0.2884:0.1898:0.1341:0.3878	.	.	.	.	R	130	.	.	H	-	2	0	LY6G5C	31754981	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-0.845000	0.04340	-1.084000	0.03092	-0.464000	0.05259	CAT		0.547	LY6G5C-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076473.4			6	387	0	0	0	1	0	6	387				
TMEM74B	55321	broad.mit.edu	37	20	1164439	1164439	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:1164439G>C	ENST00000381894.3	-	1	678	c.7C>G	c.(7-9)Cca>Gca	p.P3A	TMEM74B_ENST00000481747.1_Intron	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	3						integral component of membrane (GO:0016021)											CCCTGTGCTGGTGGCATCACT	0.488																																						ENST00000381894.3																			0											c.(7-9)Cca>Gca		transmembrane protein 74B							134.0	122.0	126.0					20																	1164439		2203	4300	6503	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1164439G>C	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.7C>G	20.37:g.1164439G>C	ENSP00000371318:p.Pro3Ala					TMEM74B_ENST00000481747.1_Intron	p.P3A	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			1	678	-			3					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.7C>G	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	G	9.956	1.221608	0.22457	.	.	ENSG00000125895	ENST00000381894;ENST00000429036	T;T	0.45668	0.96;0.89	3.59	1.59	0.23543	.	.	.	.	.	T	0.27205	0.0667	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22626	-1.0211	9	0.19147	T	0.46	.	4.6728	0.12698	0.1285:0.2612:0.6104:0.0	.	3	Q9NUR3	CT046_HUMAN	A	3	ENSP00000371318:P3A;ENSP00000400552:P3A	ENSP00000371318:P3A	P	-	1	0	C20orf46	1112439	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.083000	0.11286	0.484000	0.27630	0.561000	0.74099	CCA		0.488	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		4	211	0	0	0	1	0	4	211				
SUSD2	56241	broad.mit.edu	37	22	24579183	24579183	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr22:24579183G>A	ENST00000358321.3	+	2	496	c.235G>A	c.(235-237)Gtg>Atg	p.V79M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	79					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.V79L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CAAGGACTTTGTGGTGCGGCA	0.637																																						ENST00000358321.3																			1	Substitution - Missense(1)	p.V79L(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(235-237)Gtg>Atg		sushi domain containing 2							61.0	58.0	59.0					22																	24579183		2203	4297	6500	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579183G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.235G>A	22.37:g.24579183G>A	ENSP00000351075:p.Val79Met						p.V79M	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			2	496	+			79					Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.235G>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	9.463	1.093647	0.20471	.	.	ENSG00000099994	ENST00000358321	T	0.74002	-0.8	3.86	2.82	0.32997	.	0.584387	0.16770	N	0.200239	T	0.71264	0.3319	L	0.46157	1.445	0.21604	N	0.999623	P	0.48911	0.917	P	0.51487	0.671	T	0.59958	-0.7356	10	0.42905	T	0.14	-17.7666	5.613	0.17416	0.1089:0.2044:0.6867:0.0	.	79	Q9UGT4	SUSD2_HUMAN	M	79	ENSP00000351075:V79M	ENSP00000351075:V79M	V	+	1	0	SUSD2	22909183	0.006000	0.16342	0.124000	0.21820	0.616000	0.37450	-0.057000	0.11768	0.993000	0.38866	0.449000	0.29647	GTG		0.637	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		17	26	0	0	0	1	0	17	26				
PCLO	27445	broad.mit.edu	37	7	82583288	82583288	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:82583288C>A	ENST00000333891.9	-	5	7318	c.6981G>T	c.(6979-6981)gaG>gaT	p.E2327D	PCLO_ENST00000423517.2_Missense_Mutation_p.E2327D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E2327D(2)|p.E2258D(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCGTTCGGCCTCCAACTCCT	0.413																																						ENST00000423517.2																			3	Substitution - Missense(3)	p.E2327D(2)|p.E2258D(1)	kidney(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(6979-6981)gaG>gaT		piccolo presynaptic cytomatrix protein							125.0	128.0	127.0					7																	82583288		1852	4093	5945	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583288C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6981G>T	7.37:g.82583288C>A	ENSP00000334319:p.Glu2327Asp					PCLO_ENST00000333891.8_Missense_Mutation_p.E2327D	p.E2327D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	7318	-			2258			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.6981G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	1.795	-0.478503	0.04414	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16597	2.33;2.33	4.9	1.36	0.22044	.	.	.	.	.	T	0.12008	0.0292	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.31696	-0.9934	9	0.87932	D	0	.	3.1514	0.06489	0.4217:0.2428:0.0:0.3356	.	2327;2327	Q9Y6V0-5;Q9Y6V0-6	.;.	D	2258;2327;2327	ENSP00000334319:E2327D;ENSP00000388393:E2327D	ENSP00000334319:E2327D	E	-	3	2	PCLO	82421224	0.000000	0.05858	0.003000	0.11579	0.030000	0.12068	0.064000	0.14437	0.052000	0.16007	0.505000	0.49811	GAG		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		64	147	1	0	1.42676e-28	1	1.80796e-28	64	147				
OR52B4	143496	broad.mit.edu	37	11	4388732	4388732	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:4388732C>T	ENST00000408920.2	-	1	884	c.794G>A	c.(793-795)aGg>aAg	p.R265K		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	265					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCGTCCAAACCTCTGGGTAAG	0.473																																						ENST00000408920.2																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31						c.(793-795)aGg>aAg		olfactory receptor, family 52, subfamily B, member 4							125.0	133.0	130.0					11																	4388732		2046	4191	6237	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4388732C>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.794G>A	11.37:g.4388732C>T	ENSP00000386160:p.Arg265Lys						p.R265K	NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	884	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	265					A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.794G>A	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892657	0.33442	.	.	ENSG00000221996	ENST00000408920	T	0.00091	8.74	5.27	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000122	T	0.00440	0.0014	H	0.95712	3.71	0.09310	N	1	P	0.42692	0.787	P	0.48921	0.595	T	0.04229	-1.0967	10	0.72032	D	0.01	.	10.0367	0.42133	0.0:0.8372:0.0:0.1628	.	265	Q8NGK2	O52B4_HUMAN	K	265	ENSP00000386160:R265K	ENSP00000386160:R265K	R	-	2	0	OR52B4	4345308	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.186000	0.09670	1.462000	0.47948	0.561000	0.74099	AGG		0.473	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		5	231	0	0	0	1	0	5	231				
CLSTN3	9746	broad.mit.edu	37	12	7288076	7288076	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:7288076G>T	ENST00000266546.6	+	4	987	c.537G>T	c.(535-537)caG>caT	p.Q179H	CLSTN3_ENST00000537408.1_Missense_Mutation_p.Q191H	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.Q179>?(1)|p.Q179H(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AGTACAGCCAGATCTGCTACT	0.582																																						ENST00000537408.1																			2	Substitution - Missense(1)|Complex(1)	p.Q179>?(1)|p.Q179H(1)	kidney(2)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(571-573)caG>caT		calsyntenin 3							197.0	150.0	166.0					12																	7288076		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7288076G>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.537G>T	12.37:g.7288076G>T	ENSP00000266546:p.Gln179His					CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q179H	p.Q191H			Q9BQT9	CSTN3_HUMAN			3	1111	+			179			Cadherin 2.		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.573G>T	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963795	0.74131	.	.	ENSG00000139182	ENST00000266546;ENST00000545663;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.02	4.11	0.48088	Cadherin (4);Cadherin-like (1);	0.114972	0.64402	D	0.000011	T	0.64023	0.2561	M	0.72353	2.195	0.58432	D	0.999997	D;D	0.89917	0.978;1.0	P;D	0.81914	0.694;0.995	T	0.65578	-0.6134	10	0.62326	D	0.03	-24.4543	10.355	0.43958	0.1514:0.0:0.8486:0.0	.	191;179	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	H	179;142;142;162;191	ENSP00000266546:Q179H;ENSP00000442612:Q142H;ENSP00000443490:Q142H;ENSP00000442801:Q162H;ENSP00000440679:Q191H	ENSP00000266546:Q179H	Q	+	3	2	CLSTN3	7179343	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.702000	0.61817	2.619000	0.88677	0.462000	0.41574	CAG		0.582	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		207	617	1	0	9.45852e-170	1	1.20778e-169	207	617				
REM1	28954	broad.mit.edu	37	20	30064381	30064381	+	Missense_Mutation	SNP	C	C	T	rs59730832	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:30064381C>T	ENST00000201979.2	+	2	426	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	45			R -> W (in dbSNP:rs59730832).		GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCAGCATCCCCGGCTGGGCCA	0.652													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16233	0.0		0.0	False		,,,				2504	0.0					ENST00000201979.2																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(133-135)Cgg>Tgg		RAS (RAD and GEM)-like GTP-binding 1		C	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	80.0	82.0	81.0		133	4.5	0.9	20	dbSNP_129	81	0,8600		0,0,4300	yes	missense	REM1	NM_014012.4	101	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	45/299	30064381	5,13001	2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064381C>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.133C>T	20.37:g.30064381C>T	ENSP00000201979:p.Arg45Trp					DEFB124_ENST00000481595.1_Intron	p.R45W	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	426	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		45		R -> W (in dbSNP:rs59730832).			E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.133C>T	CCDS13181.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.60	3.429321	0.62844	0.001135	0.0	ENSG00000088320	ENST00000201979	T	0.67345	-0.26	4.53	4.53	0.55603	.	0.481828	0.16460	N	0.213451	T	0.59088	0.2168	N	0.14661	0.345	0.39005	D	0.959421	D	0.56521	0.976	P	0.48738	0.588	T	0.68093	-0.5500	10	0.66056	D	0.02	.	16.0318	0.80582	0.0:1.0:0.0:0.0	rs59730832	45	O75628	REM1_HUMAN	W	45	ENSP00000201979:R45W	ENSP00000201979:R45W	R	+	1	2	REM1	29528042	0.985000	0.35326	0.881000	0.34555	0.244000	0.25665	4.028000	0.57246	2.339000	0.79563	0.563000	0.77884	CGG		0.652	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		19	60	0	0	0	1	0	19	60				
BPIFA2	140683	broad.mit.edu	37	20	31765995	31765995	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:31765995C>T	ENST00000253362.2	+	6	752	c.606C>T	c.(604-606)aaC>aaT	p.N202N	BPIFA2_ENST00000354932.5_Silent_p.N202N			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	202						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GCGTGATCAACACGCTGAAAA	0.522																																						ENST00000253362.2																			0											c.(604-606)aaC>aaT		BPI fold containing family A, member 2							71.0	57.0	62.0					20																	31765995		2203	4300	6503	SO:0001819	synonymous_variant	140683					extracellular region	lipid binding	g.chr20:31765995C>T	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.606C>T	20.37:g.31765995C>T						BPIFA2_ENST00000354932.5_Silent_p.N202N	p.N202N			Q96DR5	SPLC2_HUMAN			6	752	+			202					Q9BQQ0	Silent	SNP	ENST00000253362.2	37	c.606C>T	CCDS13214.1																																																																																				0.522	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		46	69	0	0	0	1	0	46	69				
PLA1A	51365	broad.mit.edu	37	3	119327728	119327728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:119327728C>A	ENST00000273371.4	+	3	459	c.387C>A	c.(385-387)taC>taA	p.Y129*	PLA1A_ENST00000495992.1_Nonsense_Mutation_p.Y129*|PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Nonsense_Mutation_p.Y113*	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	129					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGGAGTCTACTTCTCAGCTG	0.453																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(385-387)taC>taA		phospholipase A1 member A							164.0	160.0	161.0					3																	119327728		2203	4300	6503	SO:0001587	stop_gained	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119327728C>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.387C>A	3.37:g.119327728C>A	ENSP00000273371:p.Tyr129*					PLA1A_ENST00000495992.1_Nonsense_Mutation_p.Y129*|PLA1A_ENST00000494440.1_Nonsense_Mutation_p.Y113*|PLA1A_ENST00000488919.1_5'UTR	p.Y129*	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			3	459	+			129					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Nonsense_Mutation	SNP	ENST00000273371.4	37	c.387C>A	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109453	0.77096	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	.	.	.	5.17	1.95	0.26073	.	0.120619	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3317	5.0588	0.14546	0.0:0.4769:0.0:0.5231	.	.	.	.	X	129;129;113	.	ENSP00000273371:Y129X	Y	+	3	2	PLA1A	120810418	0.748000	0.28294	0.616000	0.29078	0.054000	0.15201	0.974000	0.29436	0.567000	0.29293	0.462000	0.41574	TAC		0.453	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			11	217	1	0	1.08611e-07	1	1.29708e-07	11	217				
CSMD1	64478	broad.mit.edu	37	8	3205592	3205592	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:3205592A>T	ENST00000520002.1	-	23	3954	c.3399T>A	c.(3397-3399)taT>taA	p.Y1133*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y1133*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1133	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTCTATTTTATAGATACACT	0.383																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(3397-3399)taT>taA		CUB and Sushi multiple domains 1							68.0	62.0	64.0					8																	3205592		1807	4066	5873	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:3205592A>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3399T>A	8.37:g.3205592A>T	ENSP00000430733:p.Tyr1133*					CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y1132*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y1133*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y1133*	p.Y1133*			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	23	3954	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1133			CUB 7.		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.3399T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	43|43	9.878804|9.878804	0.99286|0.99286	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|.	.|.	.|.	5.64|5.64	3.28|3.28	0.37604|0.37604	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.02654	.|T	.|1	.|.	8.2614|8.2614	0.31788|0.31788	0.785:0.0:0.215:0.0|0.785:0.0:0.215:0.0	.|.	.|.	.|.	.|.	K|X	613|1133;1133;995;1132;1132;1132	.|.	.|ENSP00000320445:Y995X	X|Y	-|-	1|3	0|2	CSMD1|CSMD1	3192999|3192999	1.000000|1.000000	0.71417|0.71417	0.771000|0.771000	0.31576|0.31576	0.088000|0.088000	0.18126|0.18126	3.713000|3.713000	0.54882|0.54882	0.427000|0.427000	0.26145|0.26145	0.528000|0.528000	0.53228|0.53228	TAA|TAT		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	44	0	0	0	1	0	4	44				
KCNK18	338567	broad.mit.edu	37	10	118969176	118969176	+	Missense_Mutation	SNP	G	G	A	rs139101102		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr10:118969176G>A	ENST00000334549.1	+	3	521	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	174					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.R174H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTCTTTACCCGCCCCCTCCTC	0.507																																						ENST00000334549.1																			2	Substitution - Missense(2)	p.R174H(2)	large_intestine(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(520-522)cGc>cAc		potassium channel, subfamily K, member 18		G	HIS/ARG	0,4406		0,0,2203	85.0	89.0	88.0		521	-3.3	0.0	10	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNK18	NM_181840.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	174/385	118969176	1,13005	2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118969176G>A	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.521G>A	10.37:g.118969176G>A	ENSP00000334650:p.Arg174His						p.R174H	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	521	+		Colorectal(252;0.19)	174					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.521G>A	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	9.837	1.189940	0.21954	0.0	1.16E-4	ENSG00000186795	ENST00000334549	T	0.26223	1.75	4.41	-3.26	0.05064	.	1.118960	0.06526	N	0.740624	T	0.08935	0.0221	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22941	-1.0202	10	0.40728	T	0.16	.	1.0346	0.01545	0.2564:0.3024:0.2513:0.1898	.	174	Q7Z418	KCNKI_HUMAN	H	174	ENSP00000334650:R174H	ENSP00000334650:R174H	R	+	2	0	KCNK18	118959166	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.919000	0.04017	-0.759000	0.04684	-0.345000	0.07892	CGC		0.507	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		21	83	0	0	0	1	0	21	83				
ST18	9705	broad.mit.edu	37	8	53071532	53071532	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:53071532T>C	ENST00000276480.7	-	15	2415	c.1732A>G	c.(1732-1734)Atc>Gtc	p.I578V		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	578					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGGTTCAGGATGGCAGCAGCT	0.597																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1732-1734)Atc>Gtc		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							119.0	123.0	121.0					8																	53071532		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53071532T>C	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1732A>G	8.37:g.53071532T>C	ENSP00000276480:p.Ile578Val						p.I578V	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			15	2415	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	578					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1732A>G	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419247	0.83559	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.55588	0.51;0.51	6.08	6.08	0.98989	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.74881	2.28	0.58432	D	0.999998	D;P	0.69078	0.997;0.924	D;P	0.80764	0.994;0.52	T	0.75921	-0.3147	10	0.72032	D	0.01	-20.6949	16.6438	0.85155	0.0:0.0:0.0:1.0	.	578;578	E5RHS3;O60284	.;ST18_HUMAN	V	578	ENSP00000276480:I578V;ENSP00000428521:I578V	ENSP00000276480:I578V	I	-	1	0	ST18	53234085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.333000	0.79357	0.533000	0.62120	ATC		0.597	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			24	123	0	0	0	1	0	24	123				
UBL7	84993	broad.mit.edu	37	15	74741614	74741614	+	Silent	SNP	C	C	T	rs143556298		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr15:74741614C>T	ENST00000567435.1	-	9	1258	c.795G>A	c.(793-795)cgG>cgA	p.R265R	UBL7_ENST00000564488.1_Silent_p.R265R|UBL7_ENST00000395081.2_Silent_p.R265R|UBL7_ENST00000361351.4_Silent_p.R265R|UBL7_ENST00000565335.1_Silent_p.R265R			Q96S82	UBL7_HUMAN	ubiquitin-like 7	265										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GGGTGATGGGCCGGGGCCCAG	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16705	0.0		0.0	False		,,,				2504	0.0					ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(793-795)cgG>cgA		ubiquitin-like 7 (bone marrow stromal cell-derived)		C	,	14,4380	22.3+/-47.3	0,14,2183	37.0	40.0	39.0		795,795	0.2	1.0	15	dbSNP_134	39	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	UBL7	NM_032907.3,NM_201265.1	,	0,14,6479	TT,TC,CC		0.0,0.3186,0.1078	,	265/381,265/381	74741614	14,12972	2197	4296	6493	SO:0001819	synonymous_variant	84993						protein binding	g.chr15:74741614C>T	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.795G>A	15.37:g.74741614C>T						UBL7_ENST00000361351.4_Silent_p.R265R|UBL7_ENST00000564488.1_Silent_p.R265R|UBL7_ENST00000565335.1_Silent_p.R265R|UBL7_ENST00000395081.2_Silent_p.R265R	p.R265R			Q96S82	UBL7_HUMAN			9	1258	-			265					D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	c.795G>A	CCDS10263.1																																																																																				0.647	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		17	59	0	0	0	1	0	17	59				
PCDHGA10	56106	broad.mit.edu	37	5	140794345	140794345	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:140794345C>A	ENST00000398610.2	+	1	1603	c.1603C>A	c.(1603-1605)Cag>Aag	p.Q535K	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	535	Cadherin 5. {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)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACAGATGCAGGTGACAGC	0.542																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1603-1605)Cag>Aag									179.0	195.0	190.0					5																	140794345		2203	4300	6503	SO:0001583	missense	56106							g.chr5:140794345C>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1603C>A	5.37:g.140794345C>A	ENSP00000381611:p.Gln535Lys					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.Q535K	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1603	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1603C>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.964075	0.00461	.	.	ENSG00000253846	ENST00000398610	T	0.51574	0.7	5.67	2.82	0.32997	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.25680	0.0625	N	0.17838	0.53	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.15052	0.012;0.008	T	0.26538	-1.0100	9	0.11794	T	0.64	.	3.0157	0.06059	0.2424:0.4958:0.1179:0.1438	.	535;535	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	K	535	ENSP00000381611:Q535K	ENSP00000381611:Q535K	Q	+	1	0	PCDHGA10	140774529	0.000000	0.05858	0.010000	0.14722	0.489000	0.33432	0.053000	0.14184	0.287000	0.22375	0.655000	0.94253	CAG		0.542	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		5	162	1	0	0.184627	1	0.186879	5	162				
WDR62	284403	broad.mit.edu	37	19	36592993	36592993	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:36592993C>T	ENST00000270301.7	+	26	3160	c.3160C>T	c.(3160-3162)Ccg>Tcg	p.P1054S	WDR62_ENST00000401500.2_Missense_Mutation_p.P1054S			O43379	WDR62_HUMAN	WD repeat domain 62	1054					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCCCAGACTCCGGAGCAGGA	0.652																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(3160-3162)Ccg>Tcg		WD repeat domain 62							84.0	86.0	86.0					19																	36592993		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36592993C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3160C>T	19.37:g.36592993C>T	ENSP00000270301:p.Pro1054Ser					WDR62_ENST00000270301.7_Missense_Mutation_p.P1054S	p.P1054S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		26	3195	+	Esophageal squamous(110;0.162)		1054					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.3160C>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.657924	0.67586	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.59224	0.36;0.28	4.72	3.68	0.42216	.	0.306471	0.28203	N	0.016209	T	0.72724	0.3496	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.73962	-0.3817	10	0.56958	D	0.05	-15.9968	9.1209	0.36786	0.0:0.9:0.0:0.1	.	1054;1054	O43379-4;O43379	.;WDR62_HUMAN	S	1054	ENSP00000384792:P1054S;ENSP00000270301:P1054S	ENSP00000270301:P1054S	P	+	1	0	WDR62	41284833	0.966000	0.33281	0.797000	0.32132	0.914000	0.54420	3.880000	0.56145	1.352000	0.45808	0.655000	0.94253	CCG		0.652	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		8	96	0	0	0	1	0	8	96				
FRG1B	284802	broad.mit.edu	37	20	29624081	29624081	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:29624081A>T	ENST00000278882.3	+	4	485	c.105A>T	c.(103-105)ttA>ttT	p.L35F	FRG1B_ENST00000439954.2_Missense_Mutation_p.L40F|FRG1B_ENST00000358464.4_Missense_Mutation_p.L35F			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	35								p.L35F(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGTCAAATTATCTGATTCCA	0.289																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L35F(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(103-105)ttA>ttT																																						SO:0001583	missense	284802							g.chr20:29624081A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.105A>T	20.37:g.29624081A>T	ENSP00000278882:p.Leu35Phe					FRG1B_ENST00000358464.4_Missense_Mutation_p.L35F|FRG1B_ENST00000439954.2_Missense_Mutation_p.L40F	p.L35F							4	485	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.105A>T		.	.	.	.	.	.	.	.	.	.	a	11.95	1.790802	0.31685	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.47528	0.84	1.91	-1.81	0.07882	.	0.161701	0.38164	U	0.001783	T	0.58509	0.2127	.	.	.	0.39031	D	0.959935	D	0.55800	0.973	D	0.66979	0.948	T	0.58244	-0.7670	9	0.62326	D	0.03	.	6.4213	0.21746	0.4291:0.0:0.5708:0.0	.	40	F5H5R5	.	F	35;40;35	ENSP00000408863:L40F	ENSP00000278882:L35F	L	+	3	2	FRG1B	28237742	0.999000	0.42202	0.982000	0.44146	0.503000	0.33858	0.300000	0.19156	-0.401000	0.07644	0.155000	0.16302	TTA		0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	15	0	0	0	1	0	3	15				
PANX1	24145	broad.mit.edu	37	11	93912962	93912962	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:93912962G>A	ENST00000227638.3	+	4	1125	c.740G>A	c.(739-741)aGc>aAc	p.S247N	PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	247					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TTTGTGTGCAGCATCAAATCA	0.493																																						ENST00000227638.3																			0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(739-741)aGc>aAc		pannexin 1							184.0	160.0	168.0					11																	93912962		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93912962G>A	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.740G>A	11.37:g.93912962G>A	ENSP00000227638:p.Ser247Asn					PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN			4	1125	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	247					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.740G>A	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914143	0.17907	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.18174	2.23;2.23	5.95	4.09	0.47781	.	0.306737	0.45606	N	0.000347	T	0.12646	0.0307	L	0.47016	1.485	0.31010	N	0.719366	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.18967	-1.0320	10	0.17832	T	0.49	-17.2145	5.2943	0.15745	0.2869:0.1384:0.5747:0.0	.	247;247	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	N	247	ENSP00000227638:S247N;ENSP00000411461:S247N	ENSP00000227638:S247N	S	+	2	0	PANX1	93552610	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.145000	0.31577	0.858000	0.35431	0.655000	0.94253	AGC		0.493	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		4	261	0	0	0	1	0	4	261				
CTNNA1	1495	broad.mit.edu	37	5	138266608	138266608	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:138266608G>A	ENST00000302763.7	+	16	2372	c.2282G>A	c.(2281-2283)cGc>cAc	p.R761H	CTNNA1_ENST00000540387.1_Missense_Mutation_p.R391H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R658H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R761H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	761					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGCTTGGCCGCACCATTGCA	0.532																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(2281-2283)cGc>cAc		catenin (cadherin-associated protein), alpha 1, 102kDa							67.0	67.0	67.0					5																	138266608		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138266608G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2282G>A	5.37:g.138266608G>A	ENSP00000304669:p.Arg761His					CTNNA1_ENST00000518825.1_Missense_Mutation_p.R761H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R658H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R391H	p.R761H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		16	2372	+			761					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.2282G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024142	0.75390	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387;ENST00000520520	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.993;0.994;0.99	T	0.72773	-0.4192	10	0.87932	D	0	-8.713	19.0128	0.92881	0.0:0.0:1.0:0.0	.	761;638;761	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	H	658;761;761;746;761;391;36	ENSP00000347190:R658H;ENSP00000304669:R761H;ENSP00000427821:R761H;ENSP00000438476:R391H;ENSP00000430076:R36H	ENSP00000304669:R761H	R	+	2	0	CTNNA1	138294507	1.000000	0.71417	0.889000	0.34880	0.118000	0.20060	9.635000	0.98437	2.825000	0.97269	0.655000	0.94253	CGC		0.532	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		4	129	0	0	0	1	0	4	129				
FRG1B	284802	broad.mit.edu	37	20	29624068	29624068	+	Missense_Mutation	SNP	T	T	C	rs201673567		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:29624068T>C	ENST00000278882.3	+	4	472	c.92T>C	c.(91-93)aTg>aCg	p.M31T	FRG1B_ENST00000439954.2_Missense_Mutation_p.M36T|FRG1B_ENST00000358464.4_Missense_Mutation_p.M31T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	31										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAGCAGTTTATGGCTGTCAAA	0.274																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(91-93)aTg>aCg																																						SO:0001583	missense	284802							g.chr20:29624068T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.92T>C	20.37:g.29624068T>C	ENSP00000278882:p.Met31Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.M31T|FRG1B_ENST00000439954.2_Missense_Mutation_p.M36T	p.M31T							4	472	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.92T>C		.	.	.	.	.	.	.	.	.	.	t	0.001	-2.947278	0.00051	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.35605	1.3	1.91	0.943	0.19531	.	0.110120	0.64402	N	0.000009	T	0.12390	0.0301	.	.	.	0.21473	N	0.999676	B	0.02656	0.0	B	0.04013	0.001	T	0.34054	-0.9844	9	0.02654	T	1	.	6.8621	0.24072	0.0:0.8374:0.0:0.1626	rs4608320	36	F5H5R5	.	T	31;36;31	ENSP00000408863:M36T	ENSP00000278882:M31T	M	+	2	0	FRG1B	28237729	1.000000	0.71417	0.997000	0.53966	0.274000	0.26718	3.547000	0.53663	0.363000	0.24346	-1.372000	0.01188	ATG		0.274	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	18	0	0	0	1	0	4	18				
KIF22	3835	broad.mit.edu	37	16	29810978	29810978	+	Silent	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:29810978C>T	ENST00000160827.4	+	7	1060	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	KIF22_ENST00000400751.5_Silent_p.I272I|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Silent_p.I272I|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_Silent_p.I272I	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	340	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCCACAGTATCCTTATTGCCA	0.557																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(814-816)atC>atT		kinesin family member 22							57.0	42.0	47.0					16																	29810978		2197	4296	6493	SO:0001819	synonymous_variant	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29810978C>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1020C>T	16.37:g.29810978C>T						KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000400751.5_Silent_p.I272I|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Silent_p.I272I|KIF22_ENST00000160827.4_Silent_p.I340I	p.I272I	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			7	1453	+			340			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Silent	SNP	ENST00000160827.4	37	c.816C>T	CCDS10653.1																																																																																				0.557	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			9	50	0	0	0	1	0	9	50				
CADPS2	93664	broad.mit.edu	37	7	122033517	122033517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:122033517G>A	ENST00000449022.2	-	21	2885	c.2866C>T	c.(2866-2868)Cag>Tag	p.Q956*	CADPS2_ENST00000412584.2_Nonsense_Mutation_p.Q950*|CADPS2_ENST00000334010.7_Nonsense_Mutation_p.Q954*|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Nonsense_Mutation_p.Q950*|RP5-1101C3.1_ENST00000593910.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	956	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATGTCTCCTGCTCAAAACCT	0.473																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2860-2862)Cag>Tag		Ca++-dependent secretion activator 2							150.0	146.0	147.0					7																	122033517		1990	4176	6166	SO:0001587	stop_gained	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122033517G>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2866C>T	7.37:g.122033517G>A	ENSP00000398481:p.Gln956*					CADPS2_ENST00000412584.2_Nonsense_Mutation_p.Q950*|CADPS2_ENST00000313070.7_Nonsense_Mutation_p.Q950*|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Nonsense_Mutation_p.Q956*|RP5-1101C3.1_ENST00000593910.1_RNA	p.Q954*	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			19	3281	-			956			Interaction with DRD2.|MHD1.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Nonsense_Mutation	SNP	ENST00000449022.2	37	c.2860C>T	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.524009|11.524009	0.99572|0.99572	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.061993	.|0.64402	.|D	.|0.000003	T|.	0.48484|.	0.1502|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35674|.	-0.9779|.	3|.	.|0.02654	.|T	.|1	-17.5087|-17.5087	20.0401|20.0401	0.97581|0.97581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	598|129;950;954;961;917;950;956	.|.	.|ENSP00000325581:Q950X	A|Q	-|-	2|1	0|0	CADPS2|CADPS2	121820753|121820753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	6.562000|6.562000	0.73960|0.73960	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.473	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		5	249	0	0	0	1	0	5	249				
ACLY	47	broad.mit.edu	37	17	40049295	40049295	+	Missense_Mutation	SNP	T	T	G	rs144101604		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:40049295T>G	ENST00000352035.2	-	15	1722	c.1592A>C	c.(1591-1593)tAc>tCc	p.Y531S	ACLY_ENST00000393896.2_Missense_Mutation_p.Y521S|ACLY_ENST00000537919.1_Missense_Mutation_p.Y260S|ACLY_ENST00000353196.1_Missense_Mutation_p.Y521S|ACLY_ENST00000590151.1_Missense_Mutation_p.Y531S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	531					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.Y531S(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CGTGAAAGGGTAGACCATGGC	0.577																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	1	Substitution - Missense(1)	p.Y531S(1)	kidney(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1591-1593)tAc>tCc		ATP citrate lyase							63.0	62.0	62.0					17																	40049295		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40049295T>G	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1592A>C	17.37:g.40049295T>G	ENSP00000253792:p.Tyr531Ser					ACLY_ENST00000537919.1_Missense_Mutation_p.Y260S|ACLY_ENST00000353196.1_Missense_Mutation_p.Y521S|ACLY_ENST00000590151.1_Missense_Mutation_p.Y531S|ACLY_ENST00000393896.2_Missense_Mutation_p.Y521S	p.Y531S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			15	1722	-		Breast(137;0.000143)	531					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.1592A>C	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037747	0.93630	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	6.08	6.08	0.98989	CoA-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93200	0.7834	M	0.93062	3.375	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.996;0.998;0.986;0.999;0.96	D	0.94013	0.7286	10	0.52906	T	0.07	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	260;575;585;521;531	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	S	531;585;521;260;521	ENSP00000253792:Y531S;ENSP00000345398:Y521S;ENSP00000445349:Y260S;ENSP00000377474:Y521S	ENSP00000253792:Y531S	Y	-	2	0	ACLY	37302821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.333000	0.79357	0.533000	0.62120	TAC		0.577	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		28	69	0	0	0	1	0	28	69				
KCNRG	283518	broad.mit.edu	37	13	50594550	50594550	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr13:50594550A>G	ENST00000312942.1	+	2	1019	c.779A>G	c.(778-780)gAg>gGg	p.E260G	KCNRG_ENST00000360473.4_3'UTR|TRIM13_ENST00000478111.1_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	260					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)	p.E260G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CCAAAACCAGAGACTATCATC	0.353																																						ENST00000312942.1																			1	Substitution - Missense(1)	p.E260G(1)	kidney(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(778-780)gAg>gGg		potassium channel regulator							73.0	68.0	70.0					13																	50594550		2203	4300	6503	SO:0001583	missense	283518					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50594550A>G		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.779A>G	13.37:g.50594550A>G	ENSP00000324191:p.Glu260Gly					KCNRG_ENST00000360473.4_3'UTR|TRIM13_ENST00000478111.1_3'UTR	p.E260G	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	2	1019	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	260					A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	ENST00000312942.1	37	c.779A>G	CCDS9424.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.566533	0.28003	.	.	ENSG00000198553	ENST00000312942	T	0.58797	0.31	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000002	T	0.41096	0.1144	N	0.20986	0.625	0.32113	N	0.589065	B	0.21753	0.06	B	0.20577	0.03	T	0.49031	-0.8981	10	0.45353	T	0.12	.	8.0242	0.30427	0.8776:0.0:0.1224:0.0	.	260	Q8N5I3	KCNRG_HUMAN	G	260	ENSP00000324191:E260G	ENSP00000324191:E260G	E	+	2	0	KCNRG	49492551	0.999000	0.42202	0.997000	0.53966	0.386000	0.30323	1.497000	0.35649	2.018000	0.59344	0.455000	0.32223	GAG		0.353	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1			22	98	0	0	0	1	0	22	98				
CTCF	10664	broad.mit.edu	37	16	67644821	67644821	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:67644821G>A	ENST00000264010.4	+	3	530	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	29					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAGAGACGCCGGGAAGGGGGC	0.522																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(85-87)cGg>cAg		CCCTC-binding factor (zinc finger protein)							48.0	54.0	52.0					16																	67644821		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67644821G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.86G>A	16.37:g.67644821G>A	ENSP00000264010:p.Arg29Gln					CTCF_ENST00000401394.1_Intron	p.R29Q	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	530	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	29					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.86G>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215811	0.95104	.	.	ENSG00000102974	ENST00000264010	T	0.13778	2.56	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000008	T	0.23926	0.0579	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.02009	-1.1230	10	0.87932	D	0	-2.3739	18.8924	0.92410	0.0:0.0:1.0:0.0	.	29	P49711	CTCF_HUMAN	Q	29	ENSP00000264010:R29Q	ENSP00000264010:R29Q	R	+	2	0	CTCF	66202322	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.138000	0.64795	2.696000	0.92011	0.655000	0.94253	CGG		0.522	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		3	80	0	0	0	1	0	3	80				
USP44	84101	broad.mit.edu	37	12	95927476	95927476	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:95927476A>T	ENST00000258499.3	-	2	845	c.557T>A	c.(556-558)gTa>gAa	p.V186E	USP44_ENST00000552440.1_Missense_Mutation_p.V186E|USP44_ENST00000393091.2_Missense_Mutation_p.V186E|USP44_ENST00000537435.2_Missense_Mutation_p.V186E	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	186					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TTCTCTTTTTACTACTATTTT	0.363																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(556-558)gTa>gAa		ubiquitin specific peptidase 44							77.0	77.0	77.0					12																	95927476		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95927476A>T	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.557T>A	12.37:g.95927476A>T	ENSP00000258499:p.Val186Glu					USP44_ENST00000552440.1_Missense_Mutation_p.V186E|USP44_ENST00000537435.2_Missense_Mutation_p.V186E|USP44_ENST00000393091.2_Missense_Mutation_p.V186E	p.V186E	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			2	845	-			186					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.557T>A	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.413059	0.00191	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435	T;T;T;T	0.12774	3.86;3.86;2.65;3.86	3.83	2.92	0.33932	.	2.399920	0.01151	N	0.006428	T	0.06600	0.0169	N	0.08118	0	0.20196	N	0.99993	B	0.02656	0.0	B	0.01281	0.0	T	0.36065	-0.9763	10	0.02654	T	1	.	3.8728	0.09044	0.2066:0.0:0.4316:0.3618	.	186	Q9H0E7	UBP44_HUMAN	E	186	ENSP00000258499:V186E;ENSP00000376806:V186E;ENSP00000448670:V186E;ENSP00000442629:V186E	ENSP00000258499:V186E	V	-	2	0	USP44	94451607	0.008000	0.16893	0.467000	0.27180	0.638000	0.38207	0.400000	0.20932	0.671000	0.31185	-0.366000	0.07423	GTA		0.363	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		4	102	0	0	0	1	0	4	102				
KCNA4	3739	broad.mit.edu	37	11	30033987	30033987	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:30033987C>T	ENST00000328224.6	-	2	1472	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	80					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCGACTACCCCGGCTGCTCTG	0.642																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(238-240)cGg>cAg		potassium voltage-gated channel, shaker-related subfamily, member 4							43.0	45.0	44.0					11																	30033987		2015	4177	6192	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033987C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.239G>A	11.37:g.30033987C>T	ENSP00000328511:p.Arg80Gln						p.R80Q	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1472	-			80						Missense_Mutation	SNP	ENST00000328224.6	37	c.239G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231992	0.39399	.	.	ENSG00000182255	ENST00000328224	D	0.96774	-4.12	4.84	2.93	0.34026	.	3.718980	0.01322	U	0.010967	D	0.91801	0.7406	N	0.24115	0.695	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.82388	-0.0482	10	0.17369	T	0.5	.	5.3274	0.15915	0.0:0.6269:0.197:0.1761	.	80	P22459	KCNA4_HUMAN	Q	80	ENSP00000328511:R80Q	ENSP00000328511:R80Q	R	-	2	0	KCNA4	29990563	0.249000	0.23941	0.069000	0.20011	0.938000	0.57974	1.452000	0.35156	1.007000	0.39238	0.561000	0.74099	CGG		0.642	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		3	113	0	0	0	1	0	3	113				
PRCC	5546	broad.mit.edu	37	1	156767110	156767110	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:156767110C>A	ENST00000271526.4	+	6	1638	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	PRCC_ENST00000353233.3_Missense_Mutation_p.Q424K	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	456					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.Q456K(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGGAAACACCAGATCACATA	0.463			T	TFE3	papillary renal						OREG0013886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	1	Substitution - Missense(1)	p.Q456K(1)	kidney(1)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1366-1368)Cag>Aag		papillary renal cell carcinoma (translocation-associated)							84.0	91.0	88.0					1																	156767110		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156767110C>A	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1366C>A	1.37:g.156767110C>A	ENSP00000271526:p.Gln456Lys		OREG0013886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	PRCC_ENST00000353233.3_Missense_Mutation_p.Q424K	p.Q456K	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			6	1638	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		456					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.1366C>A	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868738	0.91587	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	T;T	0.68903	-0.36;-0.23	5.43	5.43	0.79202	Mitotic checkpoint protein PRCC, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.995	T	0.81640	-0.0841	10	0.87932	D	0	-18.1796	17.9695	0.89108	0.0:1.0:0.0:0.0	.	424;456	A6NG79;Q92733	.;PRCC_HUMAN	K	456;424;432;163	ENSP00000271526:Q456K;ENSP00000339300:Q424K	ENSP00000271526:Q456K	Q	+	1	0	PRCC	155033734	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.957000	0.76019	2.824000	0.97209	0.655000	0.94253	CAG		0.463	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		11	166	1	0	0.00010058	1	0.000110571	11	166				
STIP1	10963	broad.mit.edu	37	11	63971042	63971042	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:63971042G>A	ENST00000305218.4	+	13	1654	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	STIP1_ENST00000358794.5_Missense_Mutation_p.A550T|STIP1_ENST00000538945.1_Missense_Mutation_p.A479T	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	503	STI1 2.				response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAGTGACCCAGCCATGCGCCT	0.587																																						ENST00000358794.5																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(1648-1650)Gcc>Acc		stress-induced-phosphoprotein 1							64.0	49.0	54.0					11																	63971042		2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63971042G>A	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1507G>A	11.37:g.63971042G>A	ENSP00000305958:p.Ala503Thr					STIP1_ENST00000305218.4_Missense_Mutation_p.A503T|STIP1_ENST00000538945.1_Missense_Mutation_p.A479T	p.A550T			P31948	STIP1_HUMAN			13	2201	+			503					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.1648G>A	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134336	0.94517	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000540887	T;T;T	0.14516	2.5;2.74;2.52	5.36	5.36	0.76844	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.01504	-1.1338	10	0.14656	T	0.56	-10.9469	18.2269	0.89920	0.0:0.0:1.0:0.0	.	479;503	F5H0T1;P31948	.;STIP1_HUMAN	T	550;503;479;102	ENSP00000351646:A550T;ENSP00000305958:A503T;ENSP00000445957:A479T	ENSP00000305958:A503T	A	+	1	0	STIP1	63727618	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.124000	0.94394	2.697000	0.92050	0.491000	0.48974	GCC		0.587	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		5	257	0	0	0	1	0	5	257				
SIK3	23387	broad.mit.edu	37	11	116730108	116730108	+	Missense_Mutation	SNP	C	C	T	rs201286237		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:116730108C>T	ENST00000292055.4	-	19	2355	c.2320G>A	c.(2320-2322)Ggc>Agc	p.G774S	SIK3_ENST00000542607.1_Missense_Mutation_p.G774S|SIK3_ENST00000375288.1_Missense_Mutation_p.G169S|SIK3_ENST00000375300.1_Missense_Mutation_p.G832S|SIK3_ENST00000446921.2_Missense_Mutation_p.G832S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.G673S	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	774	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATGGAGATGCCGCGCCCACTG	0.607											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2494-2496)Ggc>Agc		SIK family kinase 3							88.0	72.0	78.0					11																	116730108		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116730108C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2320G>A	11.37:g.116730108C>T	ENSP00000292055:p.Gly774Ser		OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1475	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.G832S|SIK3_ENST00000292055.4_Missense_Mutation_p.G774S|SIK3_ENST00000434315.2_Missense_Mutation_p.G673S|SIK3_ENST00000375288.1_Missense_Mutation_p.G169S|SIK3_ENST00000542607.1_Missense_Mutation_p.G774S	p.G832S			Q9Y2K2	SIK3_HUMAN			19	2499	-			774			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2494G>A	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.22|15.22	2.768547|2.768547	0.49680|0.49680	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921	T;T;T;T;T|T	0.71934|0.70869	-0.58;-0.61;1.08;-0.58;-0.22|-0.52	5.43|5.43	3.57|3.57	0.40892|0.40892	.|.	0.331863|.	0.21330|.	N|.	0.076302|.	T|T	0.59074|0.59074	0.2167|0.2167	N|N	0.14661|0.14661	0.345|0.345	0.37800|0.37800	D|D	0.927678|0.927678	B;B;B;B;B|.	0.30793|.	0.173;0.108;0.026;0.108;0.295|.	B;B;B;B;B|.	0.26517|.	0.047;0.023;0.015;0.021;0.07|.	T|T	0.62153|0.62153	-0.6914|-0.6914	10|7	0.33141|0.52906	T|T	0.24|0.07	.|.	10.1718|10.1718	0.42915|0.42915	0.0:0.8456:0.0:0.1544|0.0:0.8456:0.0:0.1544	.|.	774;774;673;774;169|.	Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2|.	.;.;.;SIK3_HUMAN;.|.	S|Q	832;774;169;774;673|873;796	ENSP00000364449:G832S;ENSP00000292055:G774S;ENSP00000364437:G169S;ENSP00000438108:G774S;ENSP00000415873:G673S|ENSP00000391295:R873Q	ENSP00000292055:G774S|ENSP00000391295:R873Q	G|R	-|-	1|2	0|0	SIK3|SIK3	116235318|116235318	0.314000|0.314000	0.24563|0.24563	0.752000|0.752000	0.31206|0.31206	0.835000|0.835000	0.47333|0.47333	1.582000|1.582000	0.36568|0.36568	0.653000|0.653000	0.30826|0.30826	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.607	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		3	104	0	0	0	1	0	3	104				
SLX4	84464	broad.mit.edu	37	16	3641179	3641179	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:3641179C>A	ENST00000294008.3	-	12	3100	c.2460G>T	c.(2458-2460)agG>agT	p.R820S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	820	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.R820S(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCACATTGACCTCAAGAGTT	0.478								Direct reversal of damage																														ENST00000294008.3																			1	Substitution - Missense(1)	p.R820S(1)	kidney(1)	breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(2458-2460)agG>agT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							162.0	173.0	170.0					16																	3641179		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3641179C>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2460G>T	16.37:g.3641179C>A	ENSP00000294008:p.Arg820Ser						p.R820S	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3100	-			820			Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2460G>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469857	0.84533	.	.	ENSG00000188827	ENST00000294008	T	0.01287	5.05	5.57	4.61	0.57282	.	0.254634	0.34879	N	0.003611	T	0.04724	0.0128	L	0.59436	1.845	0.26483	N	0.975078	D	0.59767	0.986	P	0.53954	0.738	T	0.06881	-1.0802	10	0.72032	D	0.01	.	15.5716	0.76341	0.0:0.8618:0.1382:0.0	.	820	Q8IY92	SLX4_HUMAN	S	820	ENSP00000294008:R820S	ENSP00000294008:R820S	R	-	3	2	SLX4	3581180	1.000000	0.71417	0.854000	0.33618	0.992000	0.81027	4.169000	0.58223	1.336000	0.45506	0.561000	0.74099	AGG		0.478	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		46	123	1	0	1.15181e-12	1	1.40588e-12	46	123				
LHFPL5	222662	broad.mit.edu	37	6	35773519	35773519	+	Silent	SNP	C	C	A	rs369038953		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:35773519C>A	ENST00000373853.1	+	1	450	c.72C>A	c.(70-72)gcC>gcA	p.A24A	LHFPL5_ENST00000360215.1_Silent_p.A24A			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	24					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTCGCGAGCCGTGGGCGTGA	0.617																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(70-72)gcC>gcA		lipoma HMGIC fusion partner-like 5							168.0	148.0	155.0					6																	35773519		2203	4300	6503	SO:0001819	synonymous_variant	222662					integral to membrane		g.chr6:35773519C>A	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.72C>A	6.37:g.35773519C>A						LHFPL5_ENST00000373853.1_Silent_p.A24A	p.A24A	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			1	449	+			24					B3KX66	Silent	SNP	ENST00000373853.1	37	c.72C>A	CCDS4812.1																																																																																				0.617	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		3	72	1	0	1	1	1	3	72				
MADD	8567	broad.mit.edu	37	11	47298402	47298402	+	Silent	SNP	A	A	G	rs34602269	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:47298402A>G	ENST00000311027.5	+	5	1248	c.1083A>G	c.(1081-1083)gcA>gcG	p.A361A	MADD_ENST00000489415.1_3'UTR|MADD_ENST00000342922.4_Silent_p.A361A|MADD_ENST00000395344.3_Silent_p.A361A|MADD_ENST00000395336.3_Silent_p.A361A|MADD_ENST00000402799.1_Silent_p.A361A|MADD_ENST00000406482.1_Silent_p.A361A|MADD_ENST00000402192.2_Silent_p.A361A|MADD_ENST00000407859.3_Silent_p.A361A|MADD_ENST00000349238.3_Silent_p.A361A	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTGCATGGCATCAGCAGAGC	0.512													A|||	27	0.00539137	0.0	0.0058	5008	,	,		22826	0.0		0.0159	False		,,,				2504	0.0072					ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(1081-1083)gcA>gcG		MAP-kinase activating death domain		A	,,,,,,,,,	15,4387	22.3+/-47.3	0,15,2186	171.0	131.0	145.0		1083,1083,1083,1083,1083,1083,1083,1083,1083,1083	-3.3	0.8	11	dbSNP_126	145	148,8448	72.6+/-135.2	3,142,4153	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MADD	NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2	,,,,,,,,,	3,157,6339	GG,GA,AA		1.7217,0.3408,1.254	,,,,,,,,,	361/1545,361/1542,361/1648,361/1589,361/1566,361/1546,361/1609,361/1480,361/1582,361/1588	47298402	163,12835	2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47298402A>G	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1083A>G	11.37:g.47298402A>G						MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Silent_p.A361A|MADD_ENST00000406482.1_Silent_p.A361A|MADD_ENST00000402799.1_Silent_p.A361A|MADD_ENST00000402192.2_Silent_p.A361A|MADD_ENST00000395336.3_Silent_p.A361A|MADD_ENST00000395344.3_Silent_p.A361A|MADD_ENST00000349238.3_Silent_p.A361A|MADD_ENST00000311027.5_Silent_p.A361A	p.A361A	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	5	1440	+			361			DENN.			Silent	SNP	ENST00000311027.5	37	c.1083A>G	CCDS7930.1																																																																																				0.512	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			6	91	0	0	0	1	0	6	91				
IDH1	3417	broad.mit.edu	37	2	209104723	209104723	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:209104723A>C	ENST00000415913.1	-	8	1236	c.855T>G	c.(853-855)taT>taG	p.Y285*	IDH1_ENST00000345146.2_Nonsense_Mutation_p.Y285*|IDH1_ENST00000446179.1_Nonsense_Mutation_p.Y285*	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	285					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Y285*(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CGAGAGAGCCATACCCTGTAA	0.517			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		1	Substitution - Nonsense(1)	p.Y285*(1)	kidney(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(853-855)taT>taG		isocitrate dehydrogenase 1 (NADP+), soluble							106.0	81.0	89.0					2																	209104723		2203	4300	6503	SO:0001587	stop_gained	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209104723A>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.855T>G	2.37:g.209104723A>C	ENSP00000390265:p.Tyr285*					IDH1_ENST00000345146.2_Nonsense_Mutation_p.Y285*|IDH1_ENST00000446179.1_Nonsense_Mutation_p.Y285*	p.Y285*			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	8	1236	-			285					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Nonsense_Mutation	SNP	ENST00000415913.1	37	c.855T>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	A	38	7.080045	0.98048	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	.	.	.	6.08	-1.57	0.08506	.	0.051185	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-17.5657	11.0089	0.47651	0.6204:0.0:0.3796:0.0	.	.	.	.	X	285	.	ENSP00000260985:Y285X	Y	-	3	2	IDH1	208812968	1.000000	0.71417	0.982000	0.44146	0.460000	0.32559	1.566000	0.36396	-0.254000	0.09500	-0.353000	0.07706	TAT		0.517	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	100	0	0	0	1	0	33	100				
C4BPB	725	broad.mit.edu	37	1	207263815	207263815	+	Missense_Mutation	SNP	C	C	T	rs146047392		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:207263815C>T	ENST00000243611.5	+	2	515	c.221C>T	c.(220-222)aCt>aTt	p.T74I	C4BPB_ENST00000367078.3_Missense_Mutation_p.T74I|C4BPB_ENST00000391923.1_Missense_Mutation_p.T74I|C4BPB_ENST00000451804.2_Missense_Mutation_p.T64I|C4BPB_ENST00000367076.3_Missense_Mutation_p.T73I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	74	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						AACACCACTACTGAGTGCCGC	0.433																																						ENST00000243611.5																			0				breast(2)|lung(1)|ovary(1)	4						c.(220-222)aCt>aTt		complement component 4 binding protein, beta		C	ILE/THR,ILE/THR,ILE/THR,ILE/THR,ILE/THR	0,4406		0,0,2203	117.0	108.0	111.0		221,218,221,218,221	3.4	0.0	1	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	C4BPB	NM_000716.3,NM_001017364.1,NM_001017365.1,NM_001017366.1,NM_001017367.1	89,89,89,89,89	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	74/253,73/252,74/253,73/252,74/253	207263815	1,13005	2203	4300	6503	SO:0001583	missense	725				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		g.chr1:207263815C>T	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.221C>T	1.37:g.207263815C>T	ENSP00000243611:p.Thr74Ile					C4BPB_ENST00000367078.3_Missense_Mutation_p.T74I|C4BPB_ENST00000391923.1_Missense_Mutation_p.T74I|C4BPB_ENST00000367076.3_Missense_Mutation_p.T73I|C4BPB_ENST00000451804.2_Missense_Mutation_p.T64I	p.T74I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN			2	515	+			74			Sushi 1.		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	ENST00000243611.5	37	c.221C>T	CCDS1476.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395044	0.25205	0.0	1.16E-4	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.32	3.41	0.39046	Complement control module (2);Sushi/SCR/CCP (3);	0.725268	0.12355	N	0.476185	T	0.47875	0.1469	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.25850	0.136;0.026;0.002;0.002	B;B;B;B	0.20577	0.03;0.009;0.005;0.003	T	0.43245	-0.9403	10	0.87932	D	0	-0.7055	7.5126	0.27583	0.0:0.7427:0.1673:0.0901	.	64;64;74;73	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	I	74;74;74;73;74;64	ENSP00000356045:T74I;ENSP00000392237:T74I;ENSP00000243611:T74I;ENSP00000356043:T73I;ENSP00000375790:T74I;ENSP00000405649:T64I	ENSP00000243611:T74I	T	+	2	0	C4BPB	205330438	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	1.899000	0.39818	0.708000	0.31955	-0.142000	0.14014	ACT		0.433	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		6	100	0	0	0	1	0	6	100				
AOC2	314	broad.mit.edu	37	17	40997811	40997811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:40997811C>T	ENST00000253799.3	+	1	1195	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	AOC2_ENST00000452774.2_Nonsense_Mutation_p.R390*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	390					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCGTAACAGCCGAGGCTTGGT	0.552																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(1168-1170)Cga>Tga		amine oxidase, copper containing 2 (retina-specific)							65.0	64.0	64.0					17																	40997811		2203	4300	6503	SO:0001587	stop_gained	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997811C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1168C>T	17.37:g.40997811C>T	ENSP00000253799:p.Arg390*					AOC2_ENST00000452774.2_Nonsense_Mutation_p.R390*	p.R390*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1195	+		Breast(137;0.000143)	390					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Nonsense_Mutation	SNP	ENST00000253799.3	37	c.1168C>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497346	0.44455	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	.	.	.	5.57	-0.352	0.12598	.	0.379963	0.27168	N	0.020613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-41.8343	0.4613	0.00517	0.2603:0.3037:0.1271:0.3088	.	.	.	.	X	390	.	ENSP00000253799:R390X	R	+	1	2	AOC2	38251337	0.000000	0.05858	0.004000	0.12327	0.164000	0.22412	0.313000	0.19415	0.024000	0.15214	0.591000	0.81541	CGA		0.552	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		3	117	0	0	0	1	0	3	117				
CDCA7L	55536	broad.mit.edu	37	7	21938988	21938988	+	IGR	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:21938988G>T	ENST00000406877.3	-	0	3066				DNAH11_ENST00000328843.6_Missense_Mutation_p.D4369Y|DNAH11_ENST00000409508.3_Missense_Mutation_p.D4362Y	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CCGAGAACTCGATACTTGGAC	0.502																																						ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(13105-13107)Gat>Tat		dynein, axonemal, heavy chain 11							199.0	196.0	197.0					7																	21938988		1966	4148	6114	SO:0001628	intergenic_variant	8701	Kartagener syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21938988G>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21938988G>T						DNAH11_ENST00000409508.3_Missense_Mutation_p.D4362Y	p.D4369Y			Q96DT5	DYH11_HUMAN			81	13136	+			4369					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13105G>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429065	0.83667	.	.	ENSG00000105877	ENST00000328843	T	0.09073	3.02	5.48	5.48	0.80851	Dynein heavy chain (1);	0.044035	0.85682	D	0.000000	T	0.31199	0.0789	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.01090	-1.1455	9	0.54805	T	0.06	.	19.3709	0.94484	0.0:0.0:1.0:0.0	.	4369	Q96DT5	DYH11_HUMAN	Y	4369	ENSP00000330671:D4369Y	ENSP00000330671:D4369Y	D	+	1	0	DNAH11	21905513	1.000000	0.71417	0.065000	0.19835	0.621000	0.37620	9.825000	0.99386	2.576000	0.86940	0.655000	0.94253	GAT		0.502	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		9	292	1	0	5.16669e-11	1	6.26036e-11	9	292				
GRIN2B	2904	broad.mit.edu	37	12	13769424	13769424	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:13769424C>A	ENST00000609686.1	-	5	1502	c.1293G>T	c.(1291-1293)agG>agT	p.R431S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	431					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R431S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGACTGTGTTCCTCATGCAGG	0.517																																						ENST00000279593.3																			1	Substitution - Missense(1)	p.R431S(1)	kidney(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1291-1293)agG>agT		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						182.0	148.0	160.0					12																	13769424		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13769424C>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1293G>T	12.37:g.13769424C>A	ENSP00000477455:p.Arg431Ser						p.R431S	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			5	1502	-			431					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1293G>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887419	0.72410	.	.	ENSG00000150086	ENST00000279593	T	0.12672	2.66	5.53	4.62	0.57501	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.55743	1.74	0.80722	D	1	D	0.64830	0.994	D	0.63381	0.914	T	0.01007	-1.1483	10	0.54805	T	0.06	.	10.5697	0.45194	0.0:0.7936:0.1346:0.0718	.	431	Q13224	NMDE2_HUMAN	S	431	ENSP00000279593:R431S	ENSP00000279593:R431S	R	-	3	2	GRIN2B	13660691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.982000	0.56909	1.279000	0.44446	0.563000	0.77884	AGG		0.517	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			37	283	1	0	1.59361e-14	1	1.98902e-14	37	283				
SETD2	29072	broad.mit.edu	37	3	47098361	47098361	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:47098361C>A	ENST00000409792.3	-	15	6955	c.6913G>T	c.(6913-6915)Gtc>Ttc	p.V2305F		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2305	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACACCATAGACTGTTGGACAT	0.413			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6913-6915)Gtc>Ttc		SET domain containing 2							118.0	113.0	115.0					3																	47098361		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098361C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6913G>T	3.37:g.47098361C>A	ENSP00000386759:p.Val2305Phe						p.V2305F	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6955	-		Acute lymphoblastic leukemia(5;0.0169)	2305			Gln-rich.|Low charge region.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6913G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724798	0.68959	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.48836	0.8	5.2	5.2	0.72013	.	0.000000	0.51477	D	0.000086	T	0.56217	0.1970	L	0.40543	1.245	0.40584	D	0.981422	D;D	0.69078	0.997;0.997	D;P	0.63597	0.916;0.888	T	0.56786	-0.7921	10	0.59425	D	0.04	.	12.5998	0.56491	0.0:0.9244:0.0:0.0756	.	2305;2305	F2Z317;Q9BYW2	.;SETD2_HUMAN	F	2305	ENSP00000386759:V2305F	ENSP00000386759:V2305F	V	-	1	0	SETD2	47073365	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.414000	0.52693	2.861000	0.98227	0.655000	0.94253	GTC		0.413	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		3	129	1	0	0.00909568	1	0.00955622	3	129				
ZNF451	26036	broad.mit.edu	37	6	57025930	57025930	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:57025930A>G	ENST00000370706.4	+	14	3363	c.3119A>G	c.(3118-3120)gAa>gGa	p.E1040G	RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.E992G|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	1040					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCAATAGGAGAAGAATTTATA	0.313																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(3118-3120)gAa>gGa		zinc finger protein 451							112.0	118.0	116.0					6																	57025930		2203	4296	6499	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57025930A>G	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.3119A>G	6.37:g.57025930A>G	ENSP00000359740:p.Glu1040Gly					RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.E992G|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	p.E1040G	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		14	3363	+	Lung NSC(77;0.145)		1040					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.3119A>G	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.681092	0.68042	.	.	ENSG00000112200	ENST00000370706;ENST00000357489	T;T	0.21932	2.04;1.98	4.94	4.94	0.65067	.	0.330210	0.28284	N	0.015910	T	0.15435	0.0372	L	0.36672	1.1	0.80722	D	1	D;P	0.55605	0.972;0.953	P;P	0.51453	0.67;0.469	T	0.01409	-1.1362	10	0.62326	D	0.03	-11.4327	11.2634	0.49095	1.0:0.0:0.0:0.0	.	992;1040	Q9Y4E5-2;Q9Y4E5	.;ZN451_HUMAN	G	1040;992	ENSP00000359740:E1040G;ENSP00000350083:E992G	ENSP00000350083:E992G	E	+	2	0	ZNF451	57133889	1.000000	0.71417	0.994000	0.49952	0.908000	0.53690	4.110000	0.57831	1.979000	0.57680	0.482000	0.46254	GAA		0.313	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		34	70	0	0	0	1	0	34	70				
ANK2	287	broad.mit.edu	37	4	114279032	114279032	+	Silent	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:114279032G>A	ENST00000357077.4	+	38	9311	c.9258G>A	c.(9256-9258)agG>agA	p.R3086R	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.R3053R|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3086					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3086R(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCCTGCTAGGACCCCAACTG	0.463																																						ENST00000357077.4																			1	Substitution - coding silent(1)	p.R3086R(1)	central_nervous_system(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(9256-9258)agG>agA		ankyrin 2, neuronal							57.0	58.0	58.0					4																	114279032		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279032G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9258G>A	4.37:g.114279032G>A						ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.R3053R|ANK2_ENST00000506722.1_Intron	p.R3086R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9311	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3053					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.9258G>A	CCDS3702.1																																																																																				0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	190	0	0	0	1	0	8	190				
ZNF836	162962	broad.mit.edu	37	19	52658790	52658790	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:52658790G>C	ENST00000322146.8	-	5	2667	c.2146C>G	c.(2146-2148)Cct>Gct	p.P716A	ZNF836_ENST00000597252.1_Missense_Mutation_p.P716A|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	716					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.P716A(2)|p.P716S(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCCCAGTAGGATTTCTGTGA	0.398																																						ENST00000322146.8																			3	Substitution - Missense(3)	p.P716A(2)|p.P716S(1)	kidney(2)|upper_aerodigestive_tract(1)	endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2146-2148)Cct>Gct		zinc finger protein 836							67.0	67.0	67.0					19																	52658790		1976	4175	6151	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658790G>C	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2146C>G	19.37:g.52658790G>C	ENSP00000325038:p.Pro716Ala					CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.P716A	p.P716A	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2667	-			716						Missense_Mutation	SNP	ENST00000322146.8	37	c.2146C>G	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	g	14.22	2.470694	0.43942	.	.	ENSG00000196267	ENST00000322146	T	0.14640	2.49	2.18	1.09	0.20402	Zinc finger, C2H2 (1);	.	.	.	.	T	0.08492	0.0211	N	0.24115	0.695	0.22280	N	0.999239	P	0.38280	0.625	B	0.33799	0.17	T	0.24404	-1.0161	9	0.87932	D	0	.	7.7484	0.28883	0.1405:0.0:0.8595:0.0	.	716	Q6ZNA1	ZN836_HUMAN	A	716	ENSP00000325038:P716A	ENSP00000325038:P716A	P	-	1	0	ZNF836	57350602	0.981000	0.34729	0.000000	0.03702	0.006000	0.05464	4.244000	0.58728	0.243000	0.21327	-0.266000	0.10368	CCT		0.398	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		33	45	0	0	0	1	0	33	45				
SLC5A7	60482	broad.mit.edu	37	2	108626754	108626754	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:108626754G>T	ENST00000264047.2	+	9	1456	c.1180G>T	c.(1180-1182)Gcc>Tcc	p.A394S	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A394S|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A289S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	394					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATCTGCAACAGCCATGGCCTT	0.458																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1180-1182)Gcc>Tcc		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						231.0	180.0	197.0					2																	108626754		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626754G>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1180G>T	2.37:g.108626754G>T	ENSP00000264047:p.Ala394Ser					SLC5A7_ENST00000409059.1_Missense_Mutation_p.A394S|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A289S	p.A394S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			9	1456	+			394					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1180G>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968280	0.34754	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88277	-2.36;-2.36;-2.36	5.85	4.01	0.46588	.	0.263614	0.42821	D	0.000650	T	0.81394	0.4813	L	0.29908	0.895	0.52099	D	0.999941	B	0.09022	0.002	B	0.15870	0.014	T	0.75442	-0.3316	10	0.30854	T	0.27	-12.4025	10.6864	0.45846	0.2107:0.0:0.7893:0.0	.	394	Q9GZV3	SC5A7_HUMAN	S	394;289;394	ENSP00000387346:A394S;ENSP00000445351:A289S;ENSP00000264047:A394S	ENSP00000264047:A394S	A	+	1	0	SLC5A7	107993186	1.000000	0.71417	0.914000	0.36105	0.939000	0.58152	4.126000	0.57937	1.441000	0.47550	0.650000	0.86243	GCC		0.458	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			20	190	1	0	8.34094e-07	1	9.75067e-07	20	190				
WIZ	58525	broad.mit.edu	37	19	15537959	15537959	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:15537959C>A	ENST00000389282.4	-	6	3699	c.3486G>T	c.(3484-3486)aaG>aaT	p.K1162N	WIZ_ENST00000545156.1_Missense_Mutation_p.K476N|WIZ_ENST00000599910.2_Missense_Mutation_p.K479N|WIZ_ENST00000263381.7_Missense_Mutation_p.K305N|WIZ_ENST00000599686.3_Missense_Mutation_p.K346N			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1162	Pro-rich.				positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K476N(1)|p.K305N(1)|p.K1162N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTGGGAACATCTTTCGGGCCG	0.622																																						ENST00000389282.4																			3	Substitution - Missense(3)	p.K476N(1)|p.K305N(1)|p.K1162N(1)	kidney(3)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(3484-3486)aaG>aaT		widely interspaced zinc finger motifs							43.0	48.0	46.0					19																	15537959		1992	4159	6151	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15537959C>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3486G>T	19.37:g.15537959C>A	ENSP00000373933:p.Lys1162Asn					WIZ_ENST00000545156.1_Missense_Mutation_p.K476N|WIZ_ENST00000263381.6_Missense_Mutation_p.K305N|WIZ_ENST00000599910.1_Missense_Mutation_p.K479N|WIZ_ENST00000599686.2_Missense_Mutation_p.K346N	p.K1162N			O95785	WIZ_HUMAN			6	3699	-			1162			Pro-rich.		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.3486G>T		.	.	.	.	.	.	.	.	.	.	C	18.77	3.694185	0.68386	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.32272	1.46;1.46;1.46	5.51	4.46	0.54185	.	0.231795	0.40064	N	0.001191	T	0.36386	0.0965	N	0.24115	0.695	0.32919	D	0.515583	D;D;D	0.89917	1.0;0.999;0.964	D;D;P	0.76575	0.96;0.988;0.554	T	0.48927	-0.8991	10	0.54805	T	0.06	-34.5618	7.2325	0.26051	0.0:0.7301:0.0:0.2699	.	1162;305;346	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	N	1162;305;346;476	ENSP00000373933:K1162N;ENSP00000263381:K305N;ENSP00000445824:K476N	ENSP00000263381:K305N	K	-	3	2	WIZ	15398959	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.748000	0.38308	1.261000	0.44149	0.561000	0.74099	AAG		0.622	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		3	27	1	0	0.115264	1	0.11811	3	27				
OR8B4	283162	broad.mit.edu	37	11	124294708	124294708	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:124294708C>G	ENST00000356130.3	-	1	81	c.60G>C	c.(58-60)caG>caC	p.Q20H		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGAGCTCTGGCTGTTCTGATA	0.473																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(58-60)caG>caC		olfactory receptor, family 8, subfamily B, member 4							52.0	50.0	51.0					11																	124294708		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294708C>G	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.60G>C	11.37:g.124294708C>G	ENSP00000348449:p.Gln20His						p.Q20H	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	81	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	20					B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.60G>C	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	c	1.517	-0.548010	0.04024	.	.	ENSG00000198657	ENST00000356130	T	0.01084	5.36	4.62	-7.86	0.01187	.	0.449979	0.19321	N	0.117134	T	0.00608	0.0020	N	0.13168	0.305	0.09310	N	1	B	0.15930	0.015	B	0.15484	0.013	T	0.42899	-0.9424	10	0.41790	T	0.15	.	4.8327	0.13449	0.1372:0.4457:0.275:0.1421	.	20	Q96RC9	OR8B4_HUMAN	H	20	ENSP00000348449:Q20H	ENSP00000348449:Q20H	Q	-	3	2	OR8B4	123799918	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.344000	0.01098	-1.303000	0.02332	-0.302000	0.09304	CAG		0.473	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		10	218	0	0	0	1	0	10	218				
PROKR1	10887	broad.mit.edu	37	2	68882419	68882419	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:68882419C>T	ENST00000303786.3	+	3	1313	c.893C>T	c.(892-894)gCg>gTg	p.A298V	PROKR1_ENST00000394342.2_Missense_Mutation_p.A298V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	298					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.A298V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTATGCTGGGCGCCCTTCTAC	0.597																																						ENST00000303786.3																			1	Substitution - Missense(1)	p.A298V(1)	kidney(1)	endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(892-894)gCg>gTg		prokineticin receptor 1							126.0	97.0	107.0					2																	68882419		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882419C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.893C>T	2.37:g.68882419C>T	ENSP00000303775:p.Ala298Val					PROKR1_ENST00000394342.2_Missense_Mutation_p.A298V	p.A298V			Q8TCW9	PKR1_HUMAN			3	1313	+			298					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.893C>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570788	0.86542	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.71698	-0.59;-0.59	4.68	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.088873	0.85682	N	0.000000	T	0.77184	0.4093	M	0.64997	1.995	0.54753	D	0.999989	D	0.62365	0.991	P	0.58780	0.845	T	0.79288	-0.1865	10	0.66056	D	0.02	.	11.1188	0.48277	0.0:0.9098:0.0:0.0902	.	298	Q8TCW9	PKR1_HUMAN	V	298	ENSP00000303775:A298V;ENSP00000377874:A298V	ENSP00000303775:A298V	A	+	2	0	PROKR1	68735923	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	4.588000	0.60999	1.584000	0.49913	0.655000	0.94253	GCG		0.597	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			49	197	0	0	0	1	0	49	197				
LPCAT3	10162	broad.mit.edu	37	12	7087581	7087581	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:7087581A>G	ENST00000261407.4	-	9	1047	c.962T>C	c.(961-963)gTg>gCg	p.V321A	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_Splice_Site	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	321					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)	p.V321A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAAGAGCCACACCTTCATGTT	0.547																																						ENST00000261407.4																			1	Substitution - Missense(1)	p.V321A(1)	kidney(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(961-963)gTg>gCg		lysophosphatidylcholine acyltransferase 3							109.0	102.0	104.0					12																	7087581		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7087581A>G	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.962T>C	12.37:g.7087581A>G	ENSP00000261407:p.Val321Ala					LPCAT3_ENST00000535021.1_Splice_Site|U47924.19_ENST00000564245.1_RNA	p.V321A	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			9	1047	-			321					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.962T>C	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524892	0.85600	.	.	ENSG00000111684	ENST00000261407	T	0.73152	-0.72	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	M	0.80746	2.51	0.80722	D	1	D	0.71674	0.998	P	0.61592	0.891	D	0.84770	0.0767	10	0.52906	T	0.07	-8.4189	16.255	0.82510	1.0:0.0:0.0:0.0	.	321	Q6P1A2	MBOA5_HUMAN	A	321	ENSP00000261407:V321A	ENSP00000261407:V321A	V	-	2	0	LPCAT3	6957842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.348000	0.90064	2.240000	0.73641	0.533000	0.62120	GTG		0.547	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		63	174	0	0	0	1	0	63	174				
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:100349878C>T	ENST00000348028.3	+	0	2315				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P717L(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507																																						ENST00000542585.1																			2	Substitution - Missense(2)	p.P717L(2)	lung(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							164.0	184.0	178.0					7																	100349878		1828	4078	5906			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349878C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349878C>T						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2298	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	9.939	1.216877	0.22373	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63096	-0.02;-0.02;-0.02	3.75	1.86	0.25419	.	.	.	.	.	T	0.52273	0.1724	L	0.52573	1.65	0.20074	N	0.999932	B;B	0.21606	0.058;0.035	B;B	0.16289	0.015;0.007	T	0.49331	-0.8951	9	0.87932	D	0	.	6.3325	0.21279	0.1829:0.7123:0.0:0.1048	.	717;717	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	717	ENSP00000445943:P717L;ENSP00000445091:P717L;ENSP00000444427:P717L	ENSP00000423579:P717L	P	+	2	0	ZAN	100187814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.225000	0.02956	0.315000	0.23110	0.555000	0.69702	CCC		0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	6	0	0	0	1	0	2	6				
XIST	7503	broad.mit.edu	37	X	73063082	73063082	+	lincRNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chrX:73063082C>T	ENST00000429829.1	-	0	9506					NR_001564.2				X inactive specific transcript (non-protein coding)																		CAGAAGGAGACATATATAATT	0.448																																						ENST00000429829.1																			0																				118.0	114.0	115.0					X																	73063082		876	1991	2867			7503							g.chrX:73063082C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063082C>T								NR_001564.2						0	9506	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.448	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		14	47	0	0	0	1	0	14	47				
PCDH11Y	83259	broad.mit.edu	37	Y	4924902	4924902	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chrY:4924902C>T	ENST00000362095.5	+	1	772	c.38C>T	c.(37-39)tCt>tTt	p.S13F	PCDH11Y_ENST00000333703.4_Intron|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S13F	NM_032972.2	NP_116754.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	13					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTTCTTCCTCTTCTCTCTCT	0.373																																						ENST00000362095.5																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(37-39)tCt>tTt		protocadherin 11 Y-linked																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4924902C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000362095.5:c.38C>T	Y.37:g.4924902C>T	ENSP00000355419:p.Ser13Phe					PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S13F|PCDH11Y_ENST00000333703.4_Intron	p.S13F	NM_032972.2	NP_116754.1	Q9BZA8	PC11Y_HUMAN			1	772	+			13					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000362095.5	37	c.38C>T	CCDS14777.1																																																																																				0.373	PCDH11Y-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084980.1	NM_032973		4	40	0	0	0	1	0	4	40				
ZFYVE1	53349	broad.mit.edu	37	14	73491164	73491164	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:73491164C>A	ENST00000556143.1	-	2	773	c.53G>T	c.(52-54)tGc>tTc	p.C18F	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C18F|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C18F	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	18					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACTTTCCTGGCACATCAGCCC	0.547																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(52-54)tGc>tTc		zinc finger, FYVE domain containing 1							66.0	56.0	59.0					14																	73491164		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73491164C>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.53G>T	14.37:g.73491164C>A	ENSP00000450742:p.Cys18Phe					ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C18F|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C18F	p.C18F	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	773	-		all_lung(585;1.33e-09)	18					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.53G>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721980	0.68959	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.71341	-0.56;-0.53;-0.53	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.80854	-0.1196	10	0.87932	D	0	-19.1158	19.8043	0.96521	0.0:1.0:0.0:0.0	.	18;18	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	F	18	ENSP00000452442:C18F;ENSP00000326921:C18F;ENSP00000450742:C18F	ENSP00000326921:C18F	C	-	2	0	ZFYVE1	72560917	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	7.400000	0.79949	2.695000	0.91970	0.585000	0.79938	TGC		0.547	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		3	61	1	0	0.115264	1	0.11811	3	61				
DNAJA2	10294	broad.mit.edu	37	16	47005387	47005387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:47005387C>T	ENST00000317089.5	-	3	451	c.236G>A	c.(235-237)gGc>gAc	p.G79D	RP11-169E6.1_ENST00000562536.1_RNA	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	79					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				ACCACCTCCGCCGCTGCCTTC	0.438																																						ENST00000317089.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(235-237)gGc>gAc		DnaJ (Hsp40) homolog, subfamily A, member 2							180.0	185.0	183.0					16																	47005387		2203	4300	6503	SO:0001583	missense	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:47005387C>T	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.236G>A	16.37:g.47005387C>T	ENSP00000314030:p.Gly79Asp						p.G79D	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN			3	451	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	79					B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	c.236G>A	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556338	0.65425	.	.	ENSG00000069345	ENST00000317089	T	0.74209	-0.82	5.97	5.02	0.67125	Heat shock protein DnaJ, N-terminal (2);	0.043945	0.85682	D	0.000000	T	0.73249	0.3563	M	0.62154	1.92	0.80722	D	1	B	0.24258	0.1	B	0.21546	0.035	T	0.70457	-0.4866	10	0.45353	T	0.12	-32.7339	17.3023	0.87185	0.0:0.8747:0.1253:0.0	.	79	O60884	DNJA2_HUMAN	D	79	ENSP00000314030:G79D	ENSP00000314030:G79D	G	-	2	0	DNAJA2	45562888	1.000000	0.71417	0.620000	0.29132	0.954000	0.61252	7.634000	0.83273	1.513000	0.48852	0.655000	0.94253	GGC		0.438	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			5	296	0	0	0	1	0	5	296				
ANKRD34A	284615	broad.mit.edu	37	1	145474664	145474664	+	Silent	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:145474664C>A	ENST00000323397.4	+	4	2629	c.1336C>A	c.(1336-1338)Cgg>Agg	p.R446R	LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	446	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCCGGAGGTCGGGCGCCTTC	0.642																																						ENST00000323397.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1336-1338)Cgg>Agg		ankyrin repeat domain 34A							21.0	23.0	22.0					1																	145474664		2202	4293	6495	SO:0001819	synonymous_variant	284615							g.chr1:145474664C>A	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1336C>A	1.37:g.145474664C>A							p.R446R	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN			4	2629	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		446			Pro-rich.		B3KSU3	Silent	SNP	ENST00000323397.4	37	c.1336C>A	CCDS30829.1																																																																																				0.642	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			8	44	1	0	1.76689e-08	1	2.12539e-08	8	44				
PLXNA4	91584	broad.mit.edu	37	7	131883287	131883287	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:131883287C>T	ENST00000359827.3	-	13	3657	c.2695G>A	c.(2695-2697)Gtg>Atg	p.V899M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V899M			Q9HCM2	PLXA4_HUMAN	plexin A4	899	IPT/TIG 1.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGCACTCCACGCCAGCAACC	0.577																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2695-2697)Gtg>Atg		plexin A4							70.0	72.0	71.0					7																	131883287		2011	4188	6199	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131883287C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2695G>A	7.37:g.131883287C>T	ENSP00000352882:p.Val899Met					PLXNA4_ENST00000321063.4_Missense_Mutation_p.V899M	p.V899M			Q9HCM2	PLXA4_HUMAN			13	3657	-			899			IPT/TIG 1.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2695G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393236	0.83011	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76578	-1.03;-1.03	5.42	5.42	0.78866	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.89259	0.3596	10	0.54805	T	0.06	.	19.4006	0.94627	0.0:1.0:0.0:0.0	.	899	Q9HCM2	PLXA4_HUMAN	M	899	ENSP00000323194:V899M;ENSP00000352882:V899M	ENSP00000323194:V899M	V	-	1	0	PLXNA4	131533827	1.000000	0.71417	0.987000	0.45799	0.626000	0.37791	7.651000	0.83577	2.820000	0.97059	0.650000	0.86243	GTG		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		3	103	0	0	0	1	0	3	103				
EPB42	2038	broad.mit.edu	37	15	43498583	43498583	+	Silent	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr15:43498583G>C	ENST00000441366.2	-	10	1788	c.1563C>G	c.(1561-1563)gtC>gtG	p.V521V	EPB42_ENST00000300215.3_Silent_p.V551V|EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Silent_p.V443V	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	521					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGCAGCAAGGACACCGTTGT	0.582																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1651-1653)gtC>gtG		erythrocyte membrane protein band 4.2							153.0	122.0	132.0					15																	43498583		2203	4299	6502	SO:0001819	synonymous_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43498583G>C	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1563C>G	15.37:g.43498583G>C						EPB42_ENST00000441366.2_Silent_p.V521V|EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Silent_p.V443V	p.V551V			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	10	2110	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	521					Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	c.1653C>G	CCDS45249.1																																																																																				0.582	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		14	155	0	0	0	1	0	14	155				
MYO9B	4650	broad.mit.edu	37	19	17264804	17264804	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:17264804A>T	ENST00000594824.1	+	5	1173	c.1026A>T	c.(1024-1026)ttA>ttT	p.L342F	CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.L342F|MYO9B_ENST00000595618.1_Missense_Mutation_p.L342F|CTD-3032J10.2_ENST00000599360.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	342	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTATTTGTTACTTGGGGTCA	0.438																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(1024-1026)ttA>ttT		myosin IXB							114.0	113.0	114.0					19																	17264804		1884	4113	5997	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17264804A>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1026A>T	19.37:g.17264804A>T	ENSP00000471367:p.Leu342Phe					MYO9B_ENST00000594824.1_Missense_Mutation_p.L342F|MYO9B_ENST00000397274.2_Missense_Mutation_p.L342F|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA	p.L342F	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			5	1178	+			342			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.1026A>T		.	.	.	.	.	.	.	.	.	.	A	18.54	3.645598	0.67358	.	.	ENSG00000099331	ENST00000397274	D	0.91792	-2.91	5.15	-1.86	0.07760	Myosin head, motor domain (2);	0.000000	0.40302	N	0.001126	D	0.93592	0.7954	M	0.80616	2.505	0.37524	D	0.917639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.89531	0.3785	10	0.72032	D	0.01	.	2.4413	0.04495	0.3725:0.13:0.3704:0.1271	.	342;342;348	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	F	342	ENSP00000380444:L342F	ENSP00000380444:L342F	L	+	3	2	MYO9B	17125804	0.024000	0.19004	0.234000	0.24042	0.943000	0.58893	0.046000	0.14035	-0.338000	0.08413	0.459000	0.35465	TTA		0.438	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			5	139	0	0	0	1	0	5	139				
FOXRED2	80020	broad.mit.edu	37	22	36901978	36901978	+	Silent	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr22:36901978G>T	ENST00000397224.4	-	2	585	c.492C>A	c.(490-492)atC>atA	p.I164I	FOXRED2_ENST00000397223.4_Silent_p.I164I|FOXRED2_ENST00000216187.6_Silent_p.I164I	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	164					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGTCAGTTAGGATGAAGTAGT	0.607																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(490-492)atC>atA		FAD-dependent oxidoreductase domain containing 2							116.0	112.0	113.0					22																	36901978		2203	4300	6503	SO:0001819	synonymous_variant	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36901978G>T	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.492C>A	22.37:g.36901978G>T						FOXRED2_ENST00000397223.4_Silent_p.I164I|FOXRED2_ENST00000216187.6_Silent_p.I164I	p.I164I	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			2	585	-			164					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Silent	SNP	ENST00000397224.4	37	c.492C>A	CCDS13929.1																																																																																				0.607	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		5	252	1	0	1.23904e-05	1	1.38041e-05	5	252				
AMBP	259	broad.mit.edu	37	9	116823210	116823210	+	Missense_Mutation	SNP	C	C	G	rs150141433		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr9:116823210C>G	ENST00000265132.3	-	9	1284	c.1022G>C	c.(1021-1023)gGt>gCt	p.G341A		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	341					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCTACCATCACCAGGGACACC	0.632																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(1021-1023)gGt>gCt		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	C	ALA/GLY	1,4405		0,1,2202	108.0	113.0	111.0		1022	6.1	0.9	9	dbSNP_134	111	0,8600		0,0,4300	no	missense	AMBP	NM_001633.3	60	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	341/353	116823210	1,13005	2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116823210C>G	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.1022G>C	9.37:g.116823210C>G	ENSP00000265132:p.Gly341Ala						p.G341A	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			9	1284	-			341					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.1022G>C	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222811	0.58668	2.27E-4	0.0	ENSG00000106927	ENST00000265132	T	0.28666	1.6	6.08	6.08	0.98989	.	0.437008	0.27876	N	0.017487	T	0.30603	0.0770	L	0.47716	1.5	0.80722	D	1	D	0.53151	0.958	B	0.44224	0.444	T	0.02781	-1.1111	10	0.54805	T	0.06	.	11.4227	0.49991	0.0:0.9189:0.0:0.0811	.	341	P02760	AMBP_HUMAN	A	341	ENSP00000265132:G341A	ENSP00000265132:G341A	G	-	2	0	AMBP	115863031	0.365000	0.25006	0.947000	0.38551	0.988000	0.76386	2.508000	0.45450	2.894000	0.99253	0.655000	0.94253	GGT		0.632	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		3	146	0	0	0	1	0	3	146				
MTOR	2475	broad.mit.edu	37	1	11308051	11308051	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:11308051G>T	ENST00000361445.4	-	7	1017	c.941C>A	c.(940-942)aCc>aAc	p.T314N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	314	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GGTGAAGGGGGTAATGTGACG	0.532																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(940-942)aCc>aAc		mechanistic target of rapamycin (serine/threonine kinase)							107.0	109.0	109.0					1																	11308051		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11308051G>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.941C>A	1.37:g.11308051G>T	ENSP00000354558:p.Thr314Asn						p.T314N	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			7	1017	-			314					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.941C>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289009	0.59976	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.07688	3.17	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	L	0.44542	1.39	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.00334	-1.1809	10	0.27082	T	0.32	-5.2287	20.2594	0.98436	0.0:0.0:1.0:0.0	.	314	P42345	MTOR_HUMAN	N	314	ENSP00000354558:T314N	ENSP00000354558:T314N	T	-	2	0	MTOR	11230638	1.000000	0.71417	0.917000	0.36280	0.938000	0.57974	9.430000	0.97488	2.784000	0.95788	0.644000	0.83932	ACC		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		11	175	1	0	1.58986e-06	1	1.84558e-06	11	175				
LYSMD1	388695	broad.mit.edu	37	1	151134308	151134308	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:151134308T>A	ENST00000368908.5	-	2	1109	c.449A>T	c.(448-450)cAt>cTt	p.H150L	LYSMD1_ENST00000440902.2_Missense_Mutation_p.H102L	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	150										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGAGAGGTCATGGATGGGCGT	0.527																																						ENST00000368908.5																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(448-450)cAt>cTt		LysM, putative peptidoglycan-binding, domain containing 1							175.0	165.0	169.0					1																	151134308		2203	4300	6503	SO:0001583	missense	388695				cell wall macromolecule catabolic process			g.chr1:151134308T>A	BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.449A>T	1.37:g.151134308T>A	ENSP00000357904:p.His150Leu					LYSMD1_ENST00000440902.2_Missense_Mutation_p.H102L	p.H150L	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	1109	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		150					B4DQA1|Q69YX9	Missense_Mutation	SNP	ENST00000368908.5	37	c.449A>T	CCDS986.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801214	0.70567	.	.	ENSG00000163155	ENST00000368908;ENST00000440902	T;T	0.30714	1.55;1.52	5.76	4.6	0.57074	.	0.700864	0.14209	N	0.334193	T	0.17450	0.0419	M	0.63428	1.95	0.30690	N	0.751432	P;B	0.36837	0.571;0.18	B;B	0.36289	0.221;0.034	T	0.08722	-1.0708	10	0.72032	D	0.01	-16.9754	10.704	0.45944	0.0:0.0:0.1602:0.8398	.	102;150	Q96S90-2;Q96S90	.;LYSM1_HUMAN	L	150;102	ENSP00000357904:H150L;ENSP00000404059:H102L	ENSP00000357904:H150L	H	-	2	0	LYSMD1	149400932	0.996000	0.38824	0.393000	0.26258	0.970000	0.65996	3.150000	0.50662	0.954000	0.37851	0.482000	0.46254	CAT		0.527	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3	NM_212551		8	448	0	0	0	1	0	8	448				
IER3	8870	broad.mit.edu	37	6	30708318	30708318	+	IGR	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:30708318A>C	ENST00000259874.5	-	0	1244				FLOT1_ENST00000376389.3_Missense_Mutation_p.D175E|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_Missense_Mutation_p.D127E|FLOT1_ENST00000470643.1_5'UTR	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						CAATCCGTGCATCTTTTTGGA	0.507																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(523-525)gaT>gaG		flotillin 1							116.0	109.0	112.0					6																	30708318		1511	2709	4220	SO:0001628	intergenic_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30708318A>C	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265		6.37:g.30708318A>C						FLOT1_ENST00000456573.2_Missense_Mutation_p.D127E|FLOT1_ENST00000470643.1_5'UTR	p.D175E	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			7	745	-			175					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.525T>G	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863400	0.71949	.	.	ENSG00000137312	ENST00000376389;ENST00000456573;ENST00000413165;ENST00000438162;ENST00000418160;ENST00000445853;ENST00000416018;ENST00000454845	D;D;D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	4.56	0.836	0.18891	.	0.112499	0.64402	D	0.000014	D	0.88629	0.6488	L	0.53671	1.685	0.44207	D	0.997038	P;P	0.45396	0.857;0.685	P;P	0.53689	0.732;0.629	D	0.86586	0.1857	10	0.59425	D	0.04	-7.0811	7.576	0.27937	0.7308:0.0:0.2692:0.0	.	127;175	B4DVY7;O75955	.;FLOT1_HUMAN	E	175;127;112;175;80;175;159;175	ENSP00000365569:D175E;ENSP00000394375:D127E;ENSP00000395333:D112E;ENSP00000400615:D175E;ENSP00000398834:D175E;ENSP00000412058:D159E;ENSP00000391341:D175E	ENSP00000365569:D175E	D	-	3	2	FLOT1	30816297	0.899000	0.30636	1.000000	0.80357	0.993000	0.82548	0.076000	0.14712	0.302000	0.22762	0.533000	0.62120	GAT		0.507	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			3	65	0	0	0	1	0	3	65				
GRIK3	2899	broad.mit.edu	37	1	37271845	37271845	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:37271845C>A	ENST00000373091.3	-	14	2190	c.2174G>T	c.(2173-2175)gGc>gTc	p.G725V	GRIK3_ENST00000373093.4_Missense_Mutation_p.G725V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	725					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCTCTGGATGCCCTCCTCGTT	0.607																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(2173-2175)gGc>gTc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						140.0	117.0	125.0					1																	37271845		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271845C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2174G>T	1.37:g.37271845C>A	ENSP00000362183:p.Gly725Val					GRIK3_ENST00000373093.4_Missense_Mutation_p.G725V	p.G725V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			14	2190	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	725					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.2174G>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960676	0.92791	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.12255	2.7;2.7	5.48	5.48	0.80851	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66368	-0.5941	10	0.87932	D	0	.	19.3336	0.94306	0.0:1.0:0.0:0.0	.	725;725	A9Z1Z8;Q13003	.;GRIK3_HUMAN	V	725	ENSP00000362183:G725V;ENSP00000362185:G725V	ENSP00000362183:G725V	G	-	2	0	GRIK3	37044432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.757000	0.85209	2.566000	0.86566	0.549000	0.68633	GGC		0.607	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		15	132	1	0	8.00594e-06	1	9.10264e-06	15	132				
C2CD3	26005	broad.mit.edu	37	11	73850649	73850649	+	Splice_Site	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:73850649C>T	ENST00000334126.7	-	4	934		c.e4+1		C2CD3_ENST00000539061.1_Splice_Site|C2CD3_ENST00000313663.7_Splice_Site			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3						brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.?(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATGGTAATTACCTCGGAGTGG	0.408																																						ENST00000334126.7																			2	Unknown(2)	p.?(2)	kidney(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.e4+1		C2 calcium-dependent domain containing 3							292.0	289.0	290.0					11																	73850649		2200	4293	6493	SO:0001630	splice_region_variant	26005					centrosome		g.chr11:73850649C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.707+1G>A	11.37:g.73850649C>T						C2CD3_ENST00000313663.7_Splice_Site|C2CD3_ENST00000539061.1_Splice_Site				Q4AC94	C2CD3_HUMAN			4	934	-	Breast(11;4.16e-06)							C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Splice_Site	SNP	ENST00000334126.7	37			.	.	.	.	.	.	.	.	.	.	C	14.69	2.611338	0.46631	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7792	0.63073	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C2CD3	73528297	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	4.890000	0.63178	2.631000	0.89168	0.644000	0.83932	.		0.408	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	Intron	142	621	0	0	0	1	0	142	621				
SLIT2	9353	broad.mit.edu	37	4	20552448	20552448	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:20552448A>T	ENST00000504154.1	+	25	2741		c.e25-1		SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTTCTTTTAGTTCTCTACA	0.313																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.e25-1		slit homolog 2 (Drosophila)							126.0	119.0	122.0					4																	20552448		2202	4300	6502	SO:0001630	splice_region_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20552448A>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2490-1A>T	4.37:g.20552448A>T						SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site		NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			25	2741	+								B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	ENST00000504154.1	37		CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275572	0.59649	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20161546	1.000000	0.71417	0.916000	0.36221	0.476000	0.33039	9.200000	0.95010	2.367000	0.80283	0.528000	0.53228	.		0.313	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Intron	4	89	0	0	0	1	0	4	89				
FLNB	2317	broad.mit.edu	37	3	58120374	58120374	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:58120374G>T	ENST00000295956.4	+	27	4711	c.4546G>T	c.(4546-4548)Gat>Tat	p.D1516Y	FLNB_ENST00000493452.1_Missense_Mutation_p.D1347Y|FLNB_ENST00000490882.1_Missense_Mutation_p.D1547Y|FLNB_ENST00000429972.2_Missense_Mutation_p.D1516Y|FLNB_ENST00000358537.3_Missense_Mutation_p.D1516Y|FLNB_ENST00000357272.4_Missense_Mutation_p.D1516Y|FLNB_ENST00000419752.2_Missense_Mutation_p.D1347Y|FLNB_ENST00000348383.5_Missense_Mutation_p.D1516Y	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1516					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCCACATATGATGCCAGCAA	0.512																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(4546-4548)Gat>Tat		filamin B, beta							195.0	182.0	186.0					3																	58120374		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58120374G>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4546G>T	3.37:g.58120374G>T	ENSP00000295956:p.Asp1516Tyr					FLNB_ENST00000358537.3_Missense_Mutation_p.D1516Y|FLNB_ENST00000348383.5_Missense_Mutation_p.D1516Y|FLNB_ENST00000295956.4_Missense_Mutation_p.D1516Y|FLNB_ENST00000493452.1_Missense_Mutation_p.D1347Y|FLNB_ENST00000490882.1_Missense_Mutation_p.D1547Y|FLNB_ENST00000429972.2_Missense_Mutation_p.D1516Y|FLNB_ENST00000419752.2_Missense_Mutation_p.D1347Y	p.D1516Y			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	27	4711	+			1516					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.4546G>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972790	0.92919	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.81	5.81	0.92471	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	H	0.95745	3.715	0.80722	D	1	D;D;D;D;D;D	0.89917	0.986;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.91635	0.936;0.999;0.991;0.984;0.988;0.988	D	0.97128	0.9816	10	0.87932	D	0	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	1516;1547;1347;1347;1516;1516	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	Y	1516;1547;1516;1516;1516;1516;1347;1347	ENSP00000295956:D1516Y;ENSP00000420213:D1547Y;ENSP00000351339:D1516Y;ENSP00000415599:D1516Y;ENSP00000232447:D1516Y;ENSP00000349819:D1516Y;ENSP00000418510:D1347Y;ENSP00000414532:D1347Y	ENSP00000295956:D1516Y	D	+	1	0	FLNB	58095414	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.799000	0.99117	2.738000	0.93877	0.655000	0.94253	GAT		0.512	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		5	244	1	0	1.23904e-05	1	1.38041e-05	5	244				
PRPF3	9129	broad.mit.edu	37	1	150312902	150312902	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:150312902T>C	ENST00000324862.6	+	9	1396	c.1231T>C	c.(1231-1233)Tat>Cat	p.Y411H	PRPF3_ENST00000543398.1_Missense_Mutation_p.L274S|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.Y362H	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	411					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GAGAGAAGATTATTTTGGAAT	0.388																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1231-1233)Tat>Cat		pre-mRNA processing factor 3							84.0	78.0	80.0					1																	150312902		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150312902T>C	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1231T>C	1.37:g.150312902T>C	ENSP00000315379:p.Tyr411His					PRPF3_ENST00000543398.1_Missense_Mutation_p.L274S|PRPF3_ENST00000414970.2_Missense_Mutation_p.Y362H|PRPF3_ENST00000467329.1_3'UTR	p.Y411H	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	9	1396	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		411					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.1231T>C	CCDS951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.60|13.60	2.285019|2.285019	0.40394|0.40394	.|.	.|.	ENSG00000117360|ENSG00000117360	ENST00000543398|ENST00000324862;ENST00000414970	.|D;D	.|0.85339	.|-1.97;-1.97	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Pre-mRNA-splicing factor 3 (1);	.|0.280165	.|0.39615	.|N	.|0.001317	T|T	0.67392|0.67392	0.2888|0.2888	L|L	0.41824|0.41824	1.3|1.3	0.26556|0.26556	N|N	0.973814|0.973814	.|B;B	.|0.13594	.|0.008;0.008	.|B;B	.|0.23716	.|0.027;0.048	T|T	0.53507|0.53507	-0.8429|-0.8429	6|10	0.87932|0.13470	D|T	0|0.59	-8.8837|-8.8837	15.5833|15.5833	0.76462|0.76462	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|362;411	.|E7EVD1;O43395	.|.;PRPF3_HUMAN	S|H	274|411;362	.|ENSP00000315379:Y411H;ENSP00000387844:Y362H	ENSP00000445421:L274S|ENSP00000315379:Y411H	L|Y	+|+	2|1	0|0	PRPF3|PRPF3	148579526|148579526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.623000|6.623000	0.74238|0.74238	2.164000|2.164000	0.68074|0.68074	0.454000|0.454000	0.30748|0.30748	TTA|TAT		0.388	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		5	44	0	0	0	1	0	5	44				
UGT3A1	133688	broad.mit.edu	37	5	35957371	35957371	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:35957371G>T	ENST00000274278.3	-	5	1351	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.Q332K|UGT3A1_ENST00000507113.1_Missense_Mutation_p.Q298K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	332						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGAACTCTGACATGTCCAT	0.502																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(994-996)Cag>Aag		UDP glycosyltransferase 3 family, polypeptide A1							129.0	107.0	115.0					5																	35957371		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35957371G>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.994C>A	5.37:g.35957371G>T	ENSP00000274278:p.Gln332Lys					UGT3A1_ENST00000507113.1_Missense_Mutation_p.Q298K|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.Q332K	p.Q332K	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1351	-	all_lung(31;0.000197)		332					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.994C>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.602997	0.00123	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.60171	0.21;0.21;0.21	3.01	0.242	0.15498	.	0.552403	0.18007	N	0.154709	T	0.23965	0.0580	N	0.02539	-0.55	0.09310	N	0.999999	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.12156	0.007;0.006;0.006	T	0.30765	-0.9967	10	0.02654	T	1	.	10.1145	0.42583	0.0:0.0:0.701:0.299	.	298;332;332	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	K	332;332;298	ENSP00000274278:Q332K;ENSP00000427079:Q332K;ENSP00000426100:Q298K	ENSP00000274278:Q332K	Q	-	1	0	UGT3A1	35993128	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	0.069000	0.14552	0.344000	0.23847	0.467000	0.42956	CAG		0.502	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		4	143	1	0	0.150653	1	0.153426	4	143				
LOC101927905	101927905	broad.mit.edu	37	12	8388326	8388326	+	lincRNA	SNP	G	G	C	rs113732517	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:8388326G>C	ENST00000304751.9	+	0	316				FAM86FP_ENST00000427893.2_RNA																							CGAGCCTCCCGAGGGCTGCAC	0.577																																						ENST00000304751.9																			0																																																			101927905							g.chr12:8388326G>C																													12.37:g.8388326G>C						FAM86FP_ENST00000427893.2_RNA								0	316	+									RNA	SNP	ENST00000304751.9	37																																																																																						0.577	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			3	59	0	0	0	1	0	3	59				
DQX1	165545	broad.mit.edu	37	2	74745642	74745642	+	Missense_Mutation	SNP	C	C	T	rs554672292		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:74745642C>T	ENST00000404568.3	-	12	2304	c.2085G>A	c.(2083-2085)atG>atA	p.M695I	DQX1_ENST00000393951.2_Missense_Mutation_p.M695I	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	695						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.M577I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TAGAATCTGCCATTCCTTCCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		21939	0.0		0.0	False		,,,				2504	0.001					ENST00000404568.3																			1	Substitution - Missense(1)	p.M577I(1)	kidney(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(2083-2085)atG>atA		DEAQ box RNA-dependent ATPase 1							154.0	136.0	142.0					2																	74745642		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74745642C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.2085G>A	2.37:g.74745642C>T	ENSP00000384621:p.Met695Ile					DQX1_ENST00000393951.2_Missense_Mutation_p.M695I	p.M695I	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			12	2304	-			695					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.2085G>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912987	0.33815	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02631	4.22;4.22	5.0	4.11	0.48088	.	0.386721	0.23414	N	0.048438	T	0.03220	0.0094	L	0.40543	1.245	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.36212	-0.9757	10	0.51188	T	0.08	.	8.5073	0.33195	0.0:0.8892:0.0:0.1108	.	695	Q8TE96	DQX1_HUMAN	I	695	ENSP00000377523:M695I;ENSP00000384621:M695I	ENSP00000377523:M695I	M	-	3	0	DQX1	74599150	0.012000	0.17670	0.819000	0.32651	0.801000	0.45260	1.097000	0.30988	1.059000	0.40554	0.563000	0.77884	ATG		0.532	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		44	60	0	0	0	1	0	44	60				
SBF1	6305	broad.mit.edu	37	22	50893343	50893343	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr22:50893343C>T	ENST00000390679.3	-	34	4818	c.4634G>A	c.(4633-4635)aGg>aAg	p.R1545K	SBF1_ENST00000348911.6_Missense_Mutation_p.R1546K|SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000380817.3_Missense_Mutation_p.R1571K			O95248	MTMR5_HUMAN	SET binding factor 1	1545	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1571K(1)|p.R1545K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACCTGGCCCCTGCGTTCCCC	0.637																																						ENST00000380817.2																			2	Substitution - Missense(2)	p.R1571K(1)|p.R1545K(1)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(4711-4713)aGg>aAg		SET binding factor 1							45.0	52.0	50.0					22																	50893343		2135	4229	6364	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50893343C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4634G>A	22.37:g.50893343C>T	ENSP00000375097:p.Arg1545Lys					SBF1_ENST00000348911.6_Missense_Mutation_p.R1546K|SBF1_ENST00000390679.3_Missense_Mutation_p.R1545K	p.R1571K	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	35	4895	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1545			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.4712G>A		.	.	.	.	.	.	.	.	.	.	C	11.99	1.803498	0.31869	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.85773	-2.03;-2.03;-2.02	3.74	-0.733	0.11144	Myotubularin phosphatase domain (1);	1.122620	0.06887	N	0.803508	T	0.66992	0.2846	N	0.04297	-0.235	0.34552	D	0.711381	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.56848	-0.7911	10	0.24483	T	0.36	.	7.8097	0.29223	0.0:0.4797:0.0:0.5203	.	1545;1571;104	O95248;O95248-4;A6PVG7	MTMR5_HUMAN;.;.	K	1571;1546;1581;1545	ENSP00000370196:R1571K;ENSP00000252027:R1546K;ENSP00000375097:R1545K	ENSP00000336522:R1581K	R	-	2	0	SBF1	49240209	0.000000	0.05858	0.995000	0.50966	0.963000	0.63663	0.110000	0.15437	0.063000	0.16370	0.462000	0.41574	AGG		0.637	SBF1-201	KNOWN	basic	protein_coding	protein_coding				8	23	0	0	0	1	0	8	23				
SPAG9	9043	broad.mit.edu	37	17	49098649	49098649	+	Silent	SNP	T	T	C	rs373565315		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:49098649T>C	ENST00000262013.7	-	7	1069	c.861A>G	c.(859-861)acA>acG	p.T287T	SPAG9_ENST00000505279.1_Silent_p.T273T|SPAG9_ENST00000357122.4_Silent_p.T273T|SPAG9_ENST00000510283.1_Silent_p.T130T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	287					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.T273T(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CAGTAGGAATTGTTGCCACAT	0.378																																						ENST00000262013.7																			1	Substitution - coding silent(1)	p.T273T(1)	kidney(1)	NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(859-861)acA>acG		sperm associated antigen 9		T	,	0,4406		0,0,2203	186.0	175.0	178.0		861,819	0.9	0.0	17		178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPAG9	NM_001130528.2,NM_003971.5	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	287/1322,273/1308	49098649	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49098649T>C	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.861A>G	17.37:g.49098649T>C						SPAG9_ENST00000510283.1_Silent_p.T130T|SPAG9_ENST00000505279.1_Silent_p.T273T|SPAG9_ENST00000357122.4_Silent_p.T273T	p.T287T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		7	1069	-			287					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	37	c.861A>G	CCDS45740.1																																																																																				0.378	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		58	191	0	0	0	1	0	58	191				
ZNF395	55893	broad.mit.edu	37	8	28209093	28209093	+	Silent	SNP	C	C	T	rs145491469	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:28209093C>T	ENST00000344423.5	-	7	1283	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	ZNF395_ENST00000523202.1_Silent_p.P384P|ZNF395_ENST00000523095.1_Silent_p.P384P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGAGGACTCCGGGCCAGGAT	0.642													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18341	0.0		0.0	False		,,,				2504	0.0					ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1150-1152)ccG>ccA		zinc finger protein 395		C		8,4398	11.4+/-27.6	1,6,2196	62.0	73.0	69.0		1152	3.7	1.0	8	dbSNP_134	69	0,8598		0,0,4299	no	coding-synonymous	ZNF395	NM_018660.2		1,6,6495	TT,TC,CC		0.0,0.1816,0.0615		384/514	28209093	8,12996	2203	4299	6502	SO:0001819	synonymous_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28209093C>T	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1152G>A	8.37:g.28209093C>T						ZNF395_ENST00000523202.1_Silent_p.P384P|ZNF395_ENST00000523095.1_Silent_p.P384P	p.P384P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	1283	-		Ovarian(32;2.06e-05)	384					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	c.1152G>A	CCDS6067.1																																																																																				0.642	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			5	85	0	0	0	1	0	5	85				
NCKAP1	10787	broad.mit.edu	37	2	183817923	183817923	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:183817923C>G	ENST00000361354.4	-	21	2662	c.2290G>C	c.(2290-2292)Gta>Cta	p.V764L	NCKAP1_ENST00000360982.2_Missense_Mutation_p.V770L	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	764					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTATTAAATACTCTTGTAATA	0.348																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(2308-2310)Gta>Cta		NCK-associated protein 1							131.0	126.0	128.0					2																	183817923		2202	4300	6502	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183817923C>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2290G>C	2.37:g.183817923C>G	ENSP00000355348:p.Val764Leu					NCKAP1_ENST00000361354.3_Missense_Mutation_p.V764L	p.V770L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		22	3066	-			764					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2308G>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970711	0.53614	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.33654	1.4;1.4	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	L	0.42686	1.345	0.80722	D	1	B;B	0.16396	0.017;0.013	B;B	0.21708	0.036;0.021	T	0.12578	-1.0542	10	0.16420	T	0.52	-17.8045	20.8794	0.99867	0.0:1.0:0.0:0.0	.	764;770	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	L	764;770	ENSP00000355348:V764L;ENSP00000354251:V770L	ENSP00000354251:V770L	V	-	1	0	NCKAP1	183526168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GTA		0.348	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		4	112	0	0	0	1	0	4	112				
CYP46A1	10858	broad.mit.edu	37	14	100166435	100166435	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:100166435G>A	ENST00000261835.3	+	5	544	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	147					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GCCTTCAGCCGGAGGTGAGTG	0.622																																						ENST00000261835.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(439-441)cGg>cAg		cytochrome P450, family 46, subfamily A, polypeptide 1							57.0	51.0	53.0					14																	100166435		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100166435G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.440G>A	14.37:g.100166435G>A	ENSP00000261835:p.Arg147Gln					CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50Q	p.R147Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN			5	544	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	147					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.440G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105996	0.94292	.	.	ENSG00000036530	ENST00000261835;ENST00000423126	T;T	0.68903	-0.36;-0.26	4.84	4.84	0.62591	.	0.051458	0.85682	D	0.000000	T	0.74756	0.3758	L	0.49126	1.545	0.41672	D	0.98924	D;D	0.71674	0.998;0.996	P;D	0.70716	0.906;0.97	T	0.70475	-0.4861	10	0.25106	T	0.35	.	14.1712	0.65510	0.0:0.0:1.0:0.0	.	147;118	Q9Y6A2;Q59ER2	CP46A_HUMAN;.	Q	147;50	ENSP00000261835:R147Q;ENSP00000405779:R50Q	ENSP00000261835:R147Q	R	+	2	0	CYP46A1	99236188	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	5.110000	0.64622	2.618000	0.88619	0.655000	0.94253	CGG		0.622	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			3	84	0	0	0	1	0	3	84				
SMARCC2	6601	broad.mit.edu	37	12	56571836	56571836	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:56571836T>A	ENST00000267064.4	-	15	1438	c.1352A>T	c.(1351-1353)aAc>aTc	p.N451I	SMARCC2_ENST00000394023.3_Missense_Mutation_p.N451I|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N451I|SMARCC2_ENST00000347471.4_Missense_Mutation_p.N451I|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	451	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCTTGCCGTTGAAGAACTC	0.507																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1351-1353)aAc>aTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							156.0	144.0	148.0					12																	56571836		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56571836T>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1352A>T	12.37:g.56571836T>A	ENSP00000267064:p.Asn451Ile					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.N451I|SMARCC2_ENST00000347471.4_Missense_Mutation_p.N451I|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N451I	p.N451I	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		15	1457	-			451			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1352A>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367997	0.82463	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.55930	0.49;0.5;0.51	4.08	4.08	0.47627	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	M	0.88775	2.98	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.997;0.999;0.997	D;D;D;D;D	0.85130	0.997;0.991;0.995;0.997;0.991	T	0.80725	-0.1254	10	0.87932	D	0	-20.0567	13.0014	0.58679	0.0:0.0:0.0:1.0	.	340;451;456;451;451	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	I	451	ENSP00000449396:N451I;ENSP00000302919:N451I;ENSP00000267064:N451I	ENSP00000267064:N451I	N	-	2	0	SMARCC2	54858103	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	7.594000	0.82698	2.087000	0.62958	0.533000	0.62120	AAC		0.507	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			3	57	0	0	0	1	0	3	57				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	63	0	0	0	1	0	3	63				
FUT6	2528	broad.mit.edu	37	19	5831521	5831521	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:5831521C>T	ENST00000318336.4	-	3	2252	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	353					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						AGCCGCTATGCCGCGTGTCTG	0.632																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(1057-1059)gGc>gAc		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							70.0	80.0	77.0					19																	5831521		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5831521C>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.1058G>A	19.37:g.5831521C>T	ENSP00000313398:p.Gly353Asp					FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D|FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron	p.G353D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	2252	-			353					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.1058G>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544153	0.27563	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	3.23	3.23	0.37069	.	.	.	.	.	T	0.04634	0.0126	N	0.00182	-1.905	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15350	-1.0440	9	0.06236	T	0.91	.	12.6777	0.56903	0.0:1.0:0.0:0.0	.	353	P51993	FUT6_HUMAN	D	353	ENSP00000431708:G353D;ENSP00000432954:G353D;ENSP00000313398:G353D;ENSP00000286955:G353D	ENSP00000286955:G353D	G	-	2	0	FUT6	5782521	0.004000	0.15560	0.326000	0.25389	0.012000	0.07955	0.883000	0.28200	1.743000	0.51761	0.436000	0.28706	GGC		0.632	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		3	57	0	0	0	1	0	3	57				
C16orf87	388272	broad.mit.edu	37	16	46865045	46865045	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:46865045G>A	ENST00000285697.4	-	1	278	c.17C>T	c.(16-18)gCc>gTc	p.A6V	C16orf87_ENST00000564250.1_5'Flank|C16orf87_ENST00000394806.2_Missense_Mutation_p.A6V	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	6										large_intestine(4)|urinary_tract(1)	5						CACTTTCTTGGCTCGAGTTGC	0.711																																						ENST00000394806.2																			0				large_intestine(4)|urinary_tract(1)	5						c.(16-18)gCc>gTc		chromosome 16 open reading frame 87							63.0	57.0	59.0					16																	46865045		2203	4300	6503	SO:0001583	missense	388272							g.chr16:46865045G>A		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.17C>T	16.37:g.46865045G>A	ENSP00000285697:p.Ala6Val					C16orf87_ENST00000285697.4_Missense_Mutation_p.A6V	p.A6V			Q6PH81	CP087_HUMAN			1	29	-			6					Q63HN9	Missense_Mutation	SNP	ENST00000285697.4	37	c.17C>T	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610570	0.87258	.	.	ENSG00000155330	ENST00000285697;ENST00000394806	.	.	.	5.0	4.04	0.47022	.	0.123577	0.56097	D	0.000026	T	0.29223	0.0727	N	0.08118	0	0.41172	D	0.986179	B	0.02656	0.0	B	0.01281	0.0	T	0.07790	-1.0754	9	0.25751	T	0.34	-8.2173	9.3577	0.38177	0.0974:0.0:0.9026:0.0	.	6	Q6PH81	CP087_HUMAN	V	6	.	ENSP00000285697:A6V	A	-	2	0	C16orf87	45422546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.352000	0.59404	1.341000	0.45600	0.591000	0.81541	GCC		0.711	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		3	35	0	0	0	1	0	3	35				
HOXD11	3237	broad.mit.edu	37	2	176973786	176973786	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:176973786A>C	ENST00000249504.5	+	2	1003	c.933A>C	c.(931-933)aaA>aaC	p.K311N	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR|AC009336.1_ENST00000401374.2_RNA	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	311					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GGCAAGTCAAAATCTGGTTCC	0.453			T	NUP98	AML																																	ENST00000249504.5				Dom	yes		2	2q31-q32	3237	T	homeo box D11			L	NUP98		AML		0											c.(931-933)aaA>aaC		homeobox D11							114.0	122.0	119.0					2																	176973786		2203	4300	6503	SO:0001583	missense	3237					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176973786A>C		CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"""Homeoboxes / ANTP class : HOXL subclass"""	5134	protein-coding gene	gene with protein product		142986	"""homeo box D11"""	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.933A>C	2.37:g.176973786A>C	ENSP00000249504:p.Lys311Asn					HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR	p.K311N	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	2	1003	+			311					A6NIS4|Q9NS02	Missense_Mutation	SNP	ENST00000249504.5	37	c.933A>C	CCDS2265.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.549027	0.65311	.	.	ENSG00000128713	ENST00000249504;ENST00000392538	D	0.96913	-4.17	5.12	5.12	0.69794	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.37437	U	0.002100	D	0.98482	0.9494	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	15.2134	0.73244	1.0:0.0:0.0:0.0	.	311	P31277	HXD11_HUMAN	N	311;132	ENSP00000249504:K311N	ENSP00000249504:K311N	K	+	3	2	HOXD11	176682032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.338000	0.65947	2.063000	0.61619	0.491000	0.48974	AAA		0.453	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359250.2			5	320	0	0	0	1	0	5	320				
PCSK7	9159	broad.mit.edu	37	11	117097933	117097933	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:117097933C>T	ENST00000320934.3	-	5	1339	c.709G>A	c.(709-711)Gcg>Acg	p.A237T		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	237	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGCACAGCCGCGATCTCTCCT	0.607			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(709-711)Gcg>Acg		proprotein convertase subtilisin/kexin type 7							115.0	95.0	102.0					11																	117097933		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117097933C>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.709G>A	11.37:g.117097933C>T	ENSP00000325917:p.Ala237Thr						p.A237T	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	5	1339	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	237			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.709G>A	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400424	0.83120	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	D;D	0.91237	-2.81;-2.81	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.050959	0.85682	D	0.000000	D	0.96383	0.8820	M	0.92555	3.32	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	D	0.97044	0.9759	10	0.87932	D	0	-14.2265	18.6171	0.91306	0.0:1.0:0.0:0.0	.	237	Q16549	PCSK7_HUMAN	T	237	ENSP00000325917:A237T;ENSP00000431181:A237T	ENSP00000325917:A237T	A	-	1	0	PCSK7	116603143	1.000000	0.71417	0.155000	0.22561	0.160000	0.22226	7.768000	0.85345	2.633000	0.89246	0.655000	0.94253	GCG		0.607	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		7	462	0	0	0	1	0	7	462				
IL1RAPL2	26280	broad.mit.edu	37	X	103903622	103903622	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chrX:103903622G>T	ENST00000372582.1	+	2	784	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.V10L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	10					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTGGCCCTTGTGGTCTGTTC	0.398																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(28-30)Gtg>Ttg		interleukin 1 receptor accessory protein-like 2							126.0	111.0	116.0					X																	103903622		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:103903622G>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.28G>T	X.37:g.103903622G>T	ENSP00000361663:p.Val10Leu					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.V10L	p.V10L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			2	784	+			10					Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.28G>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	0.554	-0.848323	0.02651	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03094	4.05;4.05	5.3	2.51	0.30379	Immunoglobulin-like (1);	0.878097	0.09477	N	0.796923	T	0.01254	0.0041	N	0.01576	-0.805	0.80722	D	1	B	0.23591	0.088	B	0.18871	0.023	T	0.43442	-0.9391	10	0.02654	T	1	.	4.6963	0.12806	0.083:0.1469:0.6143:0.1559	.	10	Q9NP60	IRPL2_HUMAN	L	10	ENSP00000361663:V10L;ENSP00000344976:V10L	ENSP00000344976:V10L	V	+	1	0	IL1RAPL2	103790278	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	2.837000	0.48191	0.179000	0.19938	-0.391000	0.06502	GTG		0.398	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		4	155	1	0	0.00909568	1	0.00955622	4	155				
UBE4A	9354	broad.mit.edu	37	11	118245844	118245844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:118245844C>A	ENST00000431736.2	+	9	1443	c.1371C>A	c.(1369-1371)tgC>tgA	p.C457*	UBE4A_ENST00000252108.3_Nonsense_Mutation_p.C450*					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGCCATTTTGCAAACCCAGAT	0.443																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(1348-1350)tgC>tgA		ubiquitination factor E4A							90.0	86.0	87.0					11																	118245844		2200	4296	6496	SO:0001587	stop_gained	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118245844C>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1371C>A	11.37:g.118245844C>A	ENSP00000387362:p.Cys457*					UBE4A_ENST00000431736.2_Nonsense_Mutation_p.C457*	p.C450*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	9	1481	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	450						Nonsense_Mutation	SNP	ENST00000431736.2	37	c.1350C>A	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	38	6.899132	0.97920	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	.	.	.	5.85	4.94	0.65067	.	0.083957	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-10.5507	10.8569	0.46804	0.0:0.857:0.0:0.143	.	.	.	.	X	450;457	.	ENSP00000252108:C450X	C	+	3	2	UBE4A	117751054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.855000	0.48333	1.491000	0.48482	0.491000	0.48974	TGC		0.443	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		12	103	1	0	9.31168e-06	1	1.05152e-05	12	103				
TAS2R3	50831	broad.mit.edu	37	7	141464695	141464695	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:141464695A>T	ENST00000247879.2	+	1	799	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	246					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttcttactttactttcttgct	0.418																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(736-738)tAc>tTc		taste receptor, type 2, member 3							93.0	84.0	87.0					7																	141464695		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464695A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.737A>T	7.37:g.141464695A>T	ENSP00000247879:p.Tyr246Phe					SSBP1_ENST00000465582.1_Intron	p.Y246F	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	799	+	Melanoma(164;0.0171)		246					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.737A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886789	0.51908	.	.	ENSG00000127362	ENST00000247879	T	0.01172	5.23	5.71	5.71	0.89125	.	0.146929	0.44097	D	0.000497	T	0.04588	0.0125	L	0.59967	1.855	0.24084	N	0.995936	D	0.89917	1.0	D	0.87578	0.998	T	0.26326	-1.0106	10	0.87932	D	0	.	8.4777	0.33023	0.914:0.0:0.086:0.0	.	246	Q9NYW6	TA2R3_HUMAN	F	246	ENSP00000247879:Y246F	ENSP00000247879:Y246F	Y	+	2	0	TAS2R3	141111164	0.776000	0.28616	0.946000	0.38457	0.325000	0.28411	3.110000	0.50352	2.180000	0.69256	0.455000	0.32223	TAC		0.418	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			6	109	0	0	0	1	0	6	109				
CLTB	1212	broad.mit.edu	37	5	175824632	175824632	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:175824632A>T	ENST00000310418.4	-	4	645	c.440T>A	c.(439-441)gTa>gAa	p.V147E	CLTB_ENST00000345807.2_Missense_Mutation_p.V147E	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	147	Involved in binding clathrin heavy chain.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GTTCTTCTCTACTTGTTCACT	0.592																																						ENST00000310418.4																			0				lung(1)	1						c.(439-441)gTa>gAa		clathrin, light chain B							197.0	177.0	184.0					5																	175824632		2203	4300	6503	SO:0001583	missense	1212				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity	g.chr5:175824632A>T	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.440T>A	5.37:g.175824632A>T	ENSP00000309415:p.Val147Glu					CLTB_ENST00000345807.2_Missense_Mutation_p.V147E	p.V147E	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	4	645	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	147			Involved in binding clathrin heavy chain.		Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	c.440T>A	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	a	21.8	4.198963	0.79015	.	.	ENSG00000175416	ENST00000310418;ENST00000345807	.	.	.	4.16	4.16	0.48862	.	0.095072	0.64402	D	0.000001	T	0.42040	0.1185	N	0.24115	0.695	0.43531	D	0.995814	P;P	0.44344	0.696;0.833	P;P	0.46419	0.516;0.499	T	0.15723	-1.0427	9	0.11485	T	0.65	.	13.2153	0.59856	1.0:0.0:0.0:0.0	.	147;147	P09497-2;P09497	.;CLCB_HUMAN	E	147	.	ENSP00000309415:V147E	V	-	2	0	CLTB	175757238	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.281000	0.95811	1.508000	0.48769	0.248000	0.18094	GTA		0.592	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			4	117	0	0	0	1	0	4	117				
OR10G2	26534	broad.mit.edu	37	14	22102295	22102295	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:22102295G>C	ENST00000542433.1	-	1	801	c.704C>G	c.(703-705)aCc>aGc	p.T235S		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T235S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCCATCAGCGGTGCGTATCTT	0.542																																						ENST00000542433.1																			1	Substitution - Missense(1)	p.T235S(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(703-705)aCc>aGc		olfactory receptor, family 10, subfamily G, member 2							42.0	43.0	43.0					14																	22102295		2176	4242	6418	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102295G>C		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.704C>G	14.37:g.22102295G>C	ENSP00000445383:p.Thr235Ser						p.T235S	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	801	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	235					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.704C>G	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.366620	0.01225	.	.	ENSG00000255582	ENST00000542433	T	0.00010	9.4	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.137065	0.33005	N	0.005387	T	0.00073	0.0002	N	0.00566	-1.37	0.09310	N	1	D	0.59357	0.985	P	0.62740	0.906	T	0.66878	-0.5812	10	0.02654	T	1	-8.0537	13.4661	0.61254	0.0:0.0:1.0:0.0	.	235	Q8NGC3	O10G2_HUMAN	S	235	ENSP00000445383:T235S	ENSP00000445383:T235S	T	-	2	0	OR10G2	21172135	0.026000	0.19158	0.971000	0.41717	0.028000	0.11728	1.990000	0.40717	2.027000	0.59764	0.557000	0.71058	ACC		0.542	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			20	44	0	0	0	1	0	20	44				
WDPCP	51057	broad.mit.edu	37	2	63719992	63719992	+	Missense_Mutation	SNP	G	G	A	rs149347732		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:63719992G>A	ENST00000272321.7	-	2	685	c.158C>T	c.(157-159)gCg>gTg	p.A53V	WDPCP_ENST00000409562.3_Missense_Mutation_p.A53V|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	53					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCATTTACCCGCAATGTGTAA	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15305	0.0		0.0	False		,,,				2504	0.0					ENST00000409562.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(157-159)gCg>gTg		WD repeat containing planar cell polarity effector							103.0	102.0	102.0					2																	63719992		1824	4091	5915	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63719992G>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.158C>T	2.37:g.63719992G>A	ENSP00000272321:p.Ala53Val					WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000272321.7_Missense_Mutation_p.A53V	p.A53V			O95876	FRITZ_HUMAN			2	404	-			53					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.158C>T	CCDS42688.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.26	1.884582	0.33255	.	.	ENSG00000143951	ENST00000272321;ENST00000409562;ENST00000431065	T;T;T	0.77620	-0.68;-0.08;-1.11	5.38	-2.97	0.05530	.	0.562185	0.19811	N	0.105523	T	0.53916	0.1826	N	0.14661	0.345	0.09310	N	0.99999	B;B	0.30193	0.272;0.118	B;B	0.23275	0.045;0.02	T	0.41413	-0.9510	10	0.31617	T	0.26	-11.7402	10.7825	0.46386	0.0:0.3552:0.4731:0.1717	.	53;53	O95876-2;O95876	.;FRITZ_HUMAN	V	53	ENSP00000272321:A53V;ENSP00000387222:A53V;ENSP00000396226:A53V	ENSP00000272321:A53V	A	-	2	0	WDPCP	63573496	0.003000	0.15002	0.126000	0.21872	0.976000	0.68499	-0.029000	0.12329	-0.503000	0.06586	0.305000	0.20034	GCG		0.358	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		5	193	0	0	0	1	0	5	193				
TXNDC15	79770	broad.mit.edu	37	5	134235291	134235291	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:134235291A>T	ENST00000358387.4	+	5	1624	c.999A>T	c.(997-999)ttA>ttT	p.L333F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.L310F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	333					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATTCTTTTTAATTAGTTTTA	0.403																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(997-999)ttA>ttT		thioredoxin domain containing 15							121.0	120.0	120.0					5																	134235291		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134235291A>T	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.999A>T	5.37:g.134235291A>T	ENSP00000351157:p.Leu333Phe					TXNDC15_ENST00000546290.1_Missense_Mutation_p.L310F	p.L333F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1624	+			333					D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.999A>T	CCDS4180.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.93|18.93|18.93	3.727882|3.727882|3.727882	0.69074|0.69074|0.69074	.|.|.	.|.|.	ENSG00000113621|ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000546290|ENST00000509954|ENST00000508779	T;T|.|.	0.54675|.|.	0.56;0.57|.|.	5.66|5.66|5.66	4.5|4.5|4.5	0.54988|0.54988|0.54988	.|.|.	0.225948|.|.	0.38663|.|.	N|.|.	0.001619|.|.	T|T|.	0.36386|0.36386|.	0.0965|0.0965|.	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.44834|0.44834|0.44834	D|D|D	0.997845|0.997845|0.997845	D|.|.	0.69078|.|.	0.997|.|.	D|.|.	0.63597|.|.	0.916|.|.	T|T|.	0.25328|0.25328|.	-1.0135|-1.0135|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-10.2423|-10.2423|-10.2423	0.9466|0.9466|0.9466	0.01367|0.01367|0.01367	0.5017:0.1605:0.1837:0.1541|0.5017:0.1605:0.1837:0.1541|0.5017:0.1605:0.1837:0.1541	.|.|.	333|.|.	Q96J42|.|.	TXD15_HUMAN|.|.	F|Y|L	317;333;310|88|317	ENSP00000351157:L333F;ENSP00000443942:L310F|.|.	ENSP00000351157:L333F|.|.	L|N|X	+|+|+	3|1|2	2|0|2	TXNDC15|TXNDC15|TXNDC15	134263190|134263190|134263190	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	2.129000|2.129000|2.129000	0.42055|0.42055|0.42055	0.966000|0.966000|0.966000	0.38159|0.38159|0.38159	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	TTA|AAT|TAA		0.403	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		4	121	0	0	0	1	0	4	121				
ZAK	51776	broad.mit.edu	37	2	174055621	174055621	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:174055621A>T	ENST00000375213.3	+	6	493		c.e6-1		MLTK_ENST00000539448.1_Splice_Site|MLTK_ENST00000480606.1_Splice_Site|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000338983.3_Splice_Site|MLTK_ENST00000431503.2_Splice_Site|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Splice_Site	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										TTCTTTTTTTAGTTGTTATAG	0.279																																						ENST00000338983.3																			0											c.e6-1									56.0	65.0	62.0					2																	174055621		2201	4297	6498	SO:0001630	splice_region_variant	51776							g.chr2:174055621A>T																												ENST00000375213.3:c.416-1A>T	2.37:g.174055621A>T						MLTK_ENST00000409176.2_Splice_Site|MLTK_ENST00000375213.3_Splice_Site|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000539448.1_Splice_Site|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000431503.2_Splice_Site|MLTK_ENST00000480606.1_Splice_Site		NM_133646.2	NP_598407.1					6	610	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Splice_Site	SNP	ENST00000375213.3	37		CCDS42777.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353707	0.82243	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC013461.1	173763867	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	6.243000	0.72384	2.371000	0.80710	0.533000	0.62120	.		0.279	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		Intron	4	69	0	0	0	1	0	4	69				
CDH26	60437	broad.mit.edu	37	20	58558027	58558027	+	Missense_Mutation	SNP	C	C	G	rs149485584		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr20:58558027C>G	ENST00000244047.5	+	5	754	c.443C>G	c.(442-444)tCc>tGc	p.S148C	CDH26_ENST00000348616.4_Missense_Mutation_p.S148C			Q8IXH8	CAD26_HUMAN	cadherin 26	148	Cadherin 1. {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.S148C(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTGGATACATCCTTGATTTTC	0.403																																						ENST00000348616.4																			2	Substitution - Missense(2)	p.S148C(2)	urinary_tract(2)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(442-444)tCc>tGc		cadherin 26		C	CYS/SER	1,4405	2.1+/-5.4	0,1,2202	170.0	170.0	170.0		443	5.0	0.0	20	dbSNP_134	170	0,8600		0,0,4300	no	missense	CDH26	NM_177980.2	112	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	148/833	58558027	1,13005	2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58558027C>G	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.443C>G	20.37:g.58558027C>G	ENSP00000244047:p.Ser148Cys					CDH26_ENST00000244047.5_Missense_Mutation_p.S148C	p.S148C	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		5	743	+	all_lung(29;0.00963)		148			Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.443C>G		.	.	.	.	.	.	.	.	.	.	C	15.98	2.991957	0.54041	2.27E-4	0.0	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.60920	0.15;0.24	5.0	5.0	0.66597	.	0.269399	0.38326	N	0.001722	T	0.64605	0.2613	M	0.78049	2.395	0.09310	N	0.999991	P	0.41710	0.76	B	0.43658	0.426	T	0.65170	-0.6233	10	0.87932	D	0	.	15.2417	0.73476	0.0:1.0:0.0:0.0	.	148	Q8IXH8-4	.	C	148	ENSP00000244047:S148C;ENSP00000339390:S148C	ENSP00000244047:S148C	S	+	2	0	CDH26	57991422	0.977000	0.34250	0.022000	0.16811	0.744000	0.42396	4.648000	0.61425	2.306000	0.77630	0.655000	0.94253	TCC		0.403	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		4	164	0	0	0	1	0	4	164				
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	SNP	G	G	T	rs201713470	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			654466							g.chr9:41962602G>T																													9.37:g.41962602G>T								NR_003670.1						0	902	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			7	30	1	0	0.0477658	1	0.049557	7	30				
RMND5B	64777	broad.mit.edu	37	5	177574737	177574737	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:177574737T>C	ENST00000515098.1	+	11	1322	c.971T>C	c.(970-972)aTt>aCt	p.I324T	RMND5B_ENST00000313386.4_Missense_Mutation_p.I324T|RMND5B_ENST00000542098.1_Missense_Mutation_p.I311T			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	324										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGATTGAGATTGAACTAGGC	0.582																																						ENST00000515098.1																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17						c.(970-972)aTt>aCt		required for meiotic nuclear division 5 homolog B (S. cerevisiae)							139.0	126.0	130.0					5																	177574737		2203	4300	6503	SO:0001583	missense	64777							g.chr5:177574737T>C	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.971T>C	5.37:g.177574737T>C	ENSP00000420875:p.Ile324Thr					RMND5B_ENST00000313386.4_Missense_Mutation_p.I324T|RMND5B_ENST00000542098.1_Missense_Mutation_p.I311T	p.I324T			Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1322	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	324					Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	c.971T>C	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023441	0.75390	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	L	0.58428	1.81	0.80722	D	1	D;D;P	0.69078	0.995;0.997;0.776	P;P;P	0.59171	0.717;0.853;0.521	T	0.62374	-0.6868	9	0.18710	T	0.47	-11.0489	13.588	0.61942	0.0:0.0:0.0:1.0	.	311;311;324	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	T	324;324;311	.	ENSP00000320623:I324T	I	+	2	0	RMND5B	177507343	1.000000	0.71417	0.975000	0.42487	0.917000	0.54804	7.832000	0.86757	2.098000	0.63641	0.460000	0.39030	ATT		0.582	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		5	185	0	0	0	1	0	5	185				
DNPEP	23549	broad.mit.edu	37	2	220239650	220239650	+	Missense_Mutation	SNP	G	G	C	rs376780714		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:220239650G>C	ENST00000273075.4	-	14	1554	c.1334C>G	c.(1333-1335)cCc>cGc	p.P445R	DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Missense_Mutation_p.P453R|DNPEP_ENST00000373972.1_Missense_Mutation_p.P370R	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	435					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCAGTTGGGGGCTGCCTAA	0.607																																						ENST00000273075.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1333-1335)cCc>cGc		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						43.0	47.0	46.0					2																	220239650		1952	4130	6082	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220239650G>C		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1334C>G	2.37:g.220239650G>C	ENSP00000273075:p.Pro445Arg					DNPEP_ENST00000373972.1_Missense_Mutation_p.P370R|DNPEP_ENST00000523282.1_Missense_Mutation_p.P453R|DNPEP_ENST00000490371.1_5'UTR	p.P445R	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1554	-		Renal(207;0.0474)	435					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.1334C>G	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042340	0.93685	.	.	ENSG00000123992	ENST00000273075;ENST00000373972;ENST00000523282;ENST00000535056	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.91226	0.7235	H	0.99011	4.4	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	0.94438	0.7656	9	0.87932	D	0	-33.7631	19.1173	0.93346	0.0:0.0:1.0:0.0	.	453;453;435;445	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	R	445;370;453;338	.	ENSP00000273075:P445R	P	-	2	0	DNPEP	219947894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.368000	0.97152	2.746000	0.94184	0.655000	0.94253	CCC		0.607	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		8	116	0	0	0	1	0	8	116				
CDH10	1008	broad.mit.edu	37	5	24488133	24488133	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:24488133G>T	ENST00000264463.4	-	12	2513	c.2006C>A	c.(2005-2007)gCc>gAc	p.A669D	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	669					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATATCAAAGGCCTGGGTGTC	0.463										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2005-2007)gCc>gAc		cadherin 10, type 2 (T2-cadherin)							63.0	65.0	65.0					5																	24488133		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488133G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2006C>A	5.37:g.24488133G>T	ENSP00000264463:p.Ala669Asp	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.A669D	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2513	-			669					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2006C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470904	0.84533	.	.	ENSG00000040731	ENST00000264463	T	0.80480	-1.38	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90094	0.4179	10	0.44086	T	0.13	.	18.2977	0.90153	0.0:0.0:1.0:0.0	.	669	Q9Y6N8	CAD10_HUMAN	D	669	ENSP00000264463:A669D	ENSP00000264463:A669D	A	-	2	0	CDH10	24523890	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.658000	0.98594	2.580000	0.87095	0.655000	0.94253	GCC		0.463	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		17	114	1	0	3.99206e-14	1	4.90875e-14	17	114				
MIR526B	574468	broad.mit.edu	37	19	54198466	54198466	+	RNA	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:54198466C>T	ENST00000384848.1	+	0	83				MIR519B_ENST00000385090.1_RNA|MIR525_ENST00000384978.1_RNA	NR_030190.1				microRNA 526b																		CAAGAAGATCCCATGCTGTGA	0.403																																						ENST00000385090.1																			0																				128.0	121.0	123.0					19																	54198466		1568	3582	5150			574469							g.chr19:54198466C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207580	ENSG00000207580		"""ncRNAs / Micro RNAs"""	32100	non-coding RNA	RNA, micro				MIRN526B			Standard	NR_030190		Approved	hsa-mir-526b	uc021uzt.1				19.37:g.54198466C>T								NR_030191.1						0	0	+									RNA	SNP	ENST00000384848.1	37																																																																																						0.403	MIR526B-201	KNOWN	basic	miRNA	miRNA		NR_030190		9	275	0	0	0	1	0	9	275				
EHHADH	1962	broad.mit.edu	37	3	184966307	184966307	+	Splice_Site	SNP	T	T	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:184966307T>A	ENST00000231887.3	-	2	150		c.e2-2		EHHADH_ENST00000456310.1_Splice_Site|EHHADH_ENST00000440662.1_Splice_Site|EHHADH_ENST00000475987.1_Splice_Site	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase						fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			AAAGTCGTACTAAAAGAAAAC	0.323																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.e2-2		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						123.0	121.0	121.0					3																	184966307		2203	4300	6503	SO:0001630	splice_region_variant	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184966307T>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.75-2A>T	3.37:g.184966307T>A						EHHADH_ENST00000475987.1_Splice_Site|EHHADH_ENST00000456310.1_Splice_Site|EHHADH_ENST00000440662.1_Splice_Site		NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		2	150	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)							A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Splice_Site	SNP	ENST00000231887.3	37		CCDS33901.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.134984	0.37728	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000440662	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7778	0.51995	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EHHADH	186449001	0.917000	0.31117	0.468000	0.27192	0.004000	0.04260	2.437000	0.44828	2.095000	0.63458	0.523000	0.50628	.		0.323	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1		Intron	7	283	0	0	0	1	0	7	283				
DCP1B	196513	broad.mit.edu	37	12	2064624	2064624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:2064624G>A	ENST00000280665.6	-	6	704	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	DCP1B_ENST00000540622.1_Nonsense_Mutation_p.Q83*|DCP1B_ENST00000397173.4_Nonsense_Mutation_p.Q107*|DCP1B_ENST00000541700.1_Intron	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	209					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ATACGCTGTTGCTGGTTTTCA	0.413																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(625-627)Caa>Taa		decapping mRNA 1B							272.0	255.0	261.0					12																	2064624		2203	4300	6503	SO:0001587	stop_gained	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2064624G>A	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.625C>T	12.37:g.2064624G>A	ENSP00000280665:p.Gln209*					DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Nonsense_Mutation_p.Q83*|DCP1B_ENST00000397173.4_Nonsense_Mutation_p.Q107*	p.Q209*	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		6	704	-			209					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Nonsense_Mutation	SNP	ENST00000280665.6	37	c.625C>T	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	37	6.615523	0.97709	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	.	.	.	5.73	4.82	0.62117	.	0.572540	0.18705	N	0.133467	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-2.8542	14.779	0.69751	0.0:0.0:0.8503:0.1497	.	.	.	.	X	209;107;83	.	ENSP00000280665:Q209X	Q	-	1	0	DCP1B	1934885	1.000000	0.71417	0.237000	0.24090	0.986000	0.74619	3.917000	0.56424	1.363000	0.46019	0.655000	0.94253	CAA		0.413	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		66	416	0	0	0	1	0	66	416				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			374491							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	123	0	0	0	1	0	3	123				
CNGA4	1262	broad.mit.edu	37	11	6260632	6260632	+	Silent	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:6260632G>T	ENST00000379936.2	+	2	196	c.81G>T	c.(79-81)ctG>ctT	p.L27L	CNGA4_ENST00000533426.1_5'UTR	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	27					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTGTCCTGGACCCATCTG	0.488																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(79-81)ctG>ctT		cyclic nucleotide gated channel alpha 4							214.0	219.0	217.0					11																	6260632		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6260632G>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.81G>T	11.37:g.6260632G>T						CNGA4_ENST00000533426.1_5'UTR	p.L27L	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	196	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	27						Silent	SNP	ENST00000379936.2	37	c.81G>T	CCDS31408.1																																																																																				0.488	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		9	603	1	0	7.48243e-07	1	8.8091e-07	9	603				
SRPR	6734	broad.mit.edu	37	11	126137176	126137176	+	Silent	SNP	T	T	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:126137176T>C	ENST00000332118.6	-	4	574	c.420A>G	c.(418-420)gaA>gaG	p.E140E	FOXRED1_ENST00000263578.5_5'Flank|SRPR_ENST00000532259.1_Silent_p.E112E|FOXRED1_ENST00000532125.1_5'Flank|FOXRED1_ENST00000442061.2_5'Flank|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	140					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTTCAGAATCTTCAAATTTCT	0.443																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(418-420)gaA>gaG		signal recognition particle receptor (docking protein)							171.0	171.0	171.0					11																	126137176		2201	4298	6499	SO:0001819	synonymous_variant	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126137176T>C	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.420A>G	11.37:g.126137176T>C						SRPR_ENST00000532259.1_Silent_p.E112E	p.E140E	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	4	574	-	all_hematologic(175;0.145)		140					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Silent	SNP	ENST00000332118.6	37	c.420A>G	CCDS31717.1																																																																																				0.443	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		4	204	0	0	0	1	0	4	204				
BCCIP	56647	broad.mit.edu	37	10	127522413	127522413	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr10:127522413G>T	ENST00000278100.6	+	6	684	c.672G>T	c.(670-672)aaG>aaT	p.K224N	BCCIP_ENST00000368759.5_Missense_Mutation_p.K224N|BCCIP_ENST00000429863.2_Missense_Mutation_p.K194N|BCCIP_ENST00000299130.3_Missense_Mutation_p.K224N	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	224	Interaction with CDKN1A.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATTAGTAAGACATTTGTGG	0.398																																						ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(670-672)aaG>aaT		BRCA2 and CDKN1A interacting protein							112.0	116.0	114.0					10																	127522413		2203	4300	6503	SO:0001583	missense	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127522413G>T	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.672G>T	10.37:g.127522413G>T	ENSP00000278100:p.Lys224Asn					BCCIP_ENST00000368759.5_Missense_Mutation_p.K224N|BCCIP_ENST00000429863.2_Missense_Mutation_p.K194N|BCCIP_ENST00000278100.6_Missense_Mutation_p.K224N	p.K224N	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN			6	684	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	224			Interaction with CDKN1A.		B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	ENST00000278100.6	37	c.672G>T	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379091	0.82682	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.86	5.86	0.93980	.	0.044578	0.85682	D	0.000000	T	0.78886	0.4354	M	0.93898	3.47	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	0.91635	0.997;0.999;0.998;0.994;0.998	D	0.83530	0.0090	10	0.87932	D	0	-15.9052	13.3914	0.60827	0.0716:0.0:0.9284:0.0	.	194;224;224;224;224	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	N	224;224;224;194;224	ENSP00000278100:K224N;ENSP00000299130:K224N;ENSP00000357748:K224N;ENSP00000394758:K194N	ENSP00000278100:K224N	K	+	3	2	BCCIP	127512403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.078000	0.71282	2.777000	0.95525	0.591000	0.81541	AAG		0.398	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			10	146	1	0	3.07112e-06	1	3.54032e-06	10	146				
MYO1D	4642	broad.mit.edu	37	17	30981510	30981510	+	Silent	SNP	G	G	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:30981510G>C	ENST00000318217.5	-	18	2779	c.2475C>G	c.(2473-2475)ggC>ggG	p.G825G	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.G825G|MYO1D_ENST00000394649.4_Silent_p.G737G	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	825	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAAGATAGTTGCCCTCCCAGG	0.493																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2473-2475)ggC>ggG		myosin ID							94.0	98.0	97.0					17																	30981510		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30981510G>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2475C>G	17.37:g.30981510G>C						RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.G825G|MYO1D_ENST00000394649.4_Silent_p.G737G	p.G825G	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		18	2779	-			825					A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.2475C>G	CCDS32615.1																																																																																				0.493	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			3	155	0	0	0	1	0	3	155				
FCN1	2219	broad.mit.edu	37	9	137808248	137808248	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr9:137808248C>A	ENST00000371806.3	-	2	254	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	55	Collagen-like.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCGGGCAGCCCCGGGCAGCCT	0.677																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(163-165)Ggg>Tgg		ficolin (collagen/fibrinogen domain containing) 1							100.0	121.0	114.0					9																	137808248		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137808248C>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.163G>T	9.37:g.137808248C>A	ENSP00000360871:p.Gly55Trp						p.G55W	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	2	254	-		Myeloproliferative disorder(178;0.0333)	55			Collagen-like.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.163G>T	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208862	0.58343	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.99369	-5.78	3.96	3.96	0.45880	.	.	.	.	.	D	0.99573	0.9846	H	0.95982	3.75	0.47949	D	0.999556	D	0.89917	1.0	D	0.97110	1.0	D	0.97709	1.0189	9	0.87932	D	0	.	13.8781	0.63665	0.0:1.0:0.0:0.0	.	55	O00602	FCN1_HUMAN	W	55	ENSP00000360871:G55W	ENSP00000308877:G55W	G	-	1	0	FCN1	136948069	0.970000	0.33590	0.996000	0.52242	0.647000	0.38526	4.754000	0.62191	2.185000	0.69588	0.637000	0.83480	GGG		0.677	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		6	172	1	0	0.0477658	1	0.049557	6	172				
C11orf30	56946	broad.mit.edu	37	11	76227234	76227234	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:76227234G>A	ENST00000529032.1	+	10	1562	c.1562G>A	c.(1561-1563)cGg>cAg	p.R521Q	C11orf30_ENST00000524767.1_Missense_Mutation_p.R536Q|C11orf30_ENST00000525919.1_Missense_Mutation_p.R522Q|C11orf30_ENST00000343878.3_Missense_Mutation_p.R521Q|C11orf30_ENST00000533248.1_Missense_Mutation_p.R535Q|C11orf30_ENST00000525038.1_Missense_Mutation_p.R536Q|C11orf30_ENST00000524490.1_Missense_Mutation_p.R437Q|C11orf30_ENST00000334736.3_Missense_Mutation_p.R521Q			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	521	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCCATTGGTCGGATGGCTGCA	0.468																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(1561-1563)cGg>cAg		chromosome 11 open reading frame 30							116.0	112.0	114.0					11																	76227234		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76227234G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1562G>A	11.37:g.76227234G>A	ENSP00000432327:p.Arg521Gln					C11orf30_ENST00000525038.1_Missense_Mutation_p.R536Q|C11orf30_ENST00000343878.3_Missense_Mutation_p.R521Q|C11orf30_ENST00000525919.1_Missense_Mutation_p.R522Q|C11orf30_ENST00000524490.1_Missense_Mutation_p.R437Q|C11orf30_ENST00000533248.1_Missense_Mutation_p.R535Q|C11orf30_ENST00000524767.1_Missense_Mutation_p.R536Q|C11orf30_ENST00000334736.3_Missense_Mutation_p.R521Q	p.R521Q			Q7Z589	EMSY_HUMAN			10	1562	+			521			Thr-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.1562G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743674	0.69418	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000533972;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000531998	.	.	.	5.38	5.38	0.77491	.	0.118092	0.56097	D	0.000023	T	0.63838	0.2545	L	0.27053	0.805	0.58432	D	0.999999	D;D;D;D;D;D	0.76494	0.997;0.997;0.997;0.999;0.997;0.999	D;D;D;D;D;D	0.72625	0.953;0.953;0.953;0.978;0.968;0.978	T	0.56798	-0.7919	9	0.13853	T	0.58	-8.4169	19.1179	0.93350	0.0:0.0:1.0:0.0	.	535;536;536;522;437;521	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	Q	437;521;521;90;536;535;522;536;521;63	.	ENSP00000334130:R521Q	R	+	2	0	C11orf30	75904882	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.164000	0.94755	2.508000	0.84585	0.557000	0.71058	CGG		0.468	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		3	95	0	0	0	1	0	3	95				
CTSB	1508	broad.mit.edu	37	8	11703250	11703250	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:11703250C>T	ENST00000353047.6	-	9	1095	c.842G>A	c.(841-843)cGc>cAc	p.R281H	CTSB_ENST00000434271.1_Missense_Mutation_p.R281H|CTSB_ENST00000534510.1_Missense_Mutation_p.R281H|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000345125.3_Missense_Mutation_p.R281H|CTSB_ENST00000530640.2_Missense_Mutation_p.R281H|CTSB_ENST00000531089.1_Missense_Mutation_p.R281H|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000525076.1_5'Flank|CTSB_ENST00000533455.1_Missense_Mutation_p.R281H|CTSB_ENST00000453527.2_Missense_Mutation_p.R281H	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	281					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.R281H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GCCCAGGATGCGGATGGCATG	0.612																																						ENST00000353047.6																			1	Substitution - Missense(1)	p.R281H(1)	kidney(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(841-843)cGc>cAc		cathepsin B							130.0	85.0	100.0					8																	11703250		2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11703250C>T	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.842G>A	8.37:g.11703250C>T	ENSP00000345672:p.Arg281His					CTSB_ENST00000530640.2_Missense_Mutation_p.R281H|CTSB_ENST00000533455.1_Missense_Mutation_p.R281H|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.R281H|CTSB_ENST00000434271.1_Missense_Mutation_p.R281H|CTSB_ENST00000453527.2_Missense_Mutation_p.R281H|CTSB_ENST00000345125.3_Missense_Mutation_p.R281H|CTSB_ENST00000534510.1_Missense_Mutation_p.R281H	p.R281H	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	9	1095	-	all_epithelial(15;0.205)		281					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.842G>A	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826409	0.90955	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328	D;D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.43	5.43	0.79202	Peptidase C1A, papain C-terminal (3);	0.055373	0.85682	D	0.000000	D	0.94739	0.8302	H	0.97540	4.025	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;0.998;0.995;0.999	D	0.95433	0.8518	10	0.87932	D	0	.	11.7662	0.51933	0.0:0.9208:0.0:0.0792	.	218;281;281;218	B3KUJ8;A8K2H4;P07858;F5H2P9	.;.;CATB_HUMAN;.	H	281;218;281;281;281;281;281;281;281;187	ENSP00000415889:R281H;ENSP00000345672:R281H;ENSP00000435105:R281H;ENSP00000433215:R281H;ENSP00000409917:R281H;ENSP00000342070:R281H;ENSP00000432244:R281H;ENSP00000434217:R281H	ENSP00000342070:R281H	R	-	2	0	CTSB	11740659	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.474000	0.60203	2.825000	0.97269	0.655000	0.94253	CGC		0.612	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		20	65	0	0	0	1	0	20	65				
DSP	1832	broad.mit.edu	37	6	7580570	7580570	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr6:7580570C>A	ENST00000379802.3	+	23	4488	c.4147C>A	c.(4147-4149)Cag>Aag	p.Q1383K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1383	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTCACCATGCAGAAGGAAGA	0.433																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(4147-4149)Cag>Aag		desmoplakin							108.0	108.0	108.0					6																	7580570		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580570C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4147C>A	6.37:g.7580570C>A	ENSP00000369129:p.Gln1383Lys					DSP_ENST00000418664.2_Intron	p.Q1383K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4488	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1383			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.4147C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406206	0.62288	.	.	ENSG00000096696	ENST00000379802	D	0.92397	-3.03	5.65	3.85	0.44370	.	0.101785	0.43747	N	0.000529	D	0.83797	0.5332	L	0.52573	1.65	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77905	-0.2413	10	0.36615	T	0.2	.	15.091	0.72195	0.2584:0.7416:0.0:0.0	.	1383	P15924	DESP_HUMAN	K	1383	ENSP00000369129:Q1383K	ENSP00000369129:Q1383K	Q	+	1	0	DSP	7525569	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	0.923000	0.28757	0.723000	0.32274	0.655000	0.94253	CAG		0.433	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		11	147	1	0	0.000151284	1	0.000165219	11	147				
CLSTN3	9746	broad.mit.edu	37	12	7288077	7288077	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:7288077A>G	ENST00000266546.6	+	4	988	c.538A>G	c.(538-540)Atc>Gtc	p.I180V	CLSTN3_ENST00000537408.1_Missense_Mutation_p.I192V	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	180	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.Q179>?(1)|p.I180V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GTACAGCCAGATCTGCTACTA	0.582																																						ENST00000537408.1																			2	Substitution - Missense(1)|Complex(1)	p.Q179>?(1)|p.I180V(1)	kidney(2)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(574-576)Atc>Gtc		calsyntenin 3							198.0	151.0	167.0					12																	7288077		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7288077A>G	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.538A>G	12.37:g.7288077A>G	ENSP00000266546:p.Ile180Val					CLSTN3_ENST00000266546.6_Missense_Mutation_p.I180V	p.I192V			Q9BQT9	CSTN3_HUMAN			3	1112	+			180			Cadherin 2.		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.574A>G	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157203	0.38119	.	.	ENSG00000139182	ENST00000266546;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T	0.61158	0.13;0.88;0.88;0.13	5.02	5.02	0.67125	Cadherin (4);Cadherin-like (1);	0.103731	0.64402	D	0.000004	T	0.53802	0.1819	L	0.49571	1.57	0.58432	D	0.999994	B;P	0.35107	0.012;0.484	B;B	0.42245	0.002;0.381	T	0.50004	-0.8878	10	0.23302	T	0.38	-26.4262	9.419	0.38539	0.9206:0.0:0.0794:0.0	.	192;180	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	V	180;143;163;192	ENSP00000266546:I180V;ENSP00000443490:I143V;ENSP00000442801:I163V;ENSP00000440679:I192V	ENSP00000266546:I180V	I	+	1	0	CLSTN3	7179344	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.244000	0.72391	2.116000	0.64780	0.379000	0.24179	ATC		0.582	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		211	615	0	0	0	1	0	211	615				
MRPL45	84311	broad.mit.edu	37	17	36453208	36453208	+	Missense_Mutation	SNP	T	T	C	rs11559007	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:36453208T>C	ENST00000312513.5	+	1	220	c.59T>C	c.(58-60)tTt>tCt	p.F20S		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	20						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCTGGTGGTTTCGGCAGGTG	0.572													C|||	1310	0.261581	0.7458	0.1585	5008	,	,		18189	0.0		0.1541	False		,,,				2504	0.0603					ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(58-60)tTt>tCt		mitochondrial ribosomal protein L45		C	SER/PHE	641,743		287,67,338	50.0	81.0	72.0		59	3.3	1.0	17	dbSNP_134	72	225,2957		27,171,1393	no	missense	MRPL45	NM_032351.4	155	314,238,1731	CC,CT,TT		7.071,46.315,18.9663	benign	20/307	36453208	866,3700	692	1591	2283	SO:0001583	missense	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36453208T>C	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.59T>C	17.37:g.36453208T>C	ENSP00000308901:p.Phe20Ser						p.F20S	NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN			1	220	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	20					A1L436|Q6ZMJ5	Missense_Mutation	SNP	ENST00000312513.5	37	c.59T>C	CCDS11326.1	478	0.21886446886446886	267	0.5426829268292683	68	0.1878453038674033	35	0.06118881118881119	108	0.1424802110817942	C	2.695	-0.272197	0.05716	0.46315	0.07071	ENSG00000174100	ENST00000312513	T	0.25749	1.78	4.28	3.31	0.37934	.	.	.	.	.	T	0.00012	0.0000	N	0.00138	-2.015	0.48511	P	3.370000000000317E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.40664	-0.9551	8	0.29301	T	0.29	.	6.6711	0.23068	0.0:0.783:0.0:0.217	.	20	Q9BRJ2	RM45_HUMAN	S	20	ENSP00000308901:F20S	ENSP00000308901:F20S	F	+	2	0	MRPL45	.	0.996000	0.38824	0.988000	0.46212	0.947000	0.59692	0.684000	0.25364	0.565000	0.29255	-0.282000	0.10007	TTT		0.572	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		5	102	0	0	0	1	0	5	102				
SRCAP	10847	broad.mit.edu	37	16	30747940	30747940	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:30747940G>T	ENST00000262518.4	+	33	7388	c.7003G>T	c.(7003-7005)Gca>Tca	p.A2335S	SRCAP_ENST00000344771.4_Missense_Mutation_p.A2177S|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2273S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2335	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTCAAACAGGCAGAAGTGAG	0.537																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7003-7005)Gca>Tca		Snf2-related CREBBP activator protein							36.0	38.0	37.0					16																	30747940		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30747940G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7003G>T	16.37:g.30747940G>T	ENSP00000262518:p.Ala2335Ser					SRCAP_ENST00000344771.4_Missense_Mutation_p.A2177S|SRCAP_ENST00000395059.2_Missense_Mutation_p.A2273S	p.A2335S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		33	7388	+			2335			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7003G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228941	0.39399	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92805	-3.09;-3.11;-3.11	3.76	3.76	0.43208	.	0.000000	0.40469	N	0.001086	D	0.89581	0.6756	N	0.08118	0	0.34644	D	0.720909	D;D	0.60160	0.987;0.978	P;P	0.61874	0.895;0.787	D	0.92357	0.5894	10	0.41790	T	0.15	-7.7925	14.488	0.67631	0.0:0.0:1.0:0.0	.	2273;2335	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2335;2273;2177	ENSP00000262518:A2335S;ENSP00000378499:A2273S;ENSP00000343042:A2177S	ENSP00000262518:A2335S	A	+	1	0	SRCAP	30655441	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.355000	0.90083	1.942000	0.56320	0.467000	0.42956	GCA		0.537	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		7	143	1	0	3.09899e-07	1	3.67451e-07	7	143				
CEP290	80184	broad.mit.edu	37	12	88512304	88512304	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:88512304A>T	ENST00000552810.1	-	17	2010	c.1667T>A	c.(1666-1668)aTt>aAt	p.I556N	CEP290_ENST00000309041.7_Missense_Mutation_p.I558N|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					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)		p.I558fs*20(1)		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						CATTTGACGAATTTTTTTTTT	0.308																																						ENST00000552810.1																			1	Insertion - Frameshift(1)	p.I558fs*20(1)	central_nervous_system(1)	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.(1666-1668)aTt>aAt		centrosomal protein 290kDa							61.0	54.0	56.0					12																	88512304		1798	4051	5849	SO:0001583	missense	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.chr12:88512304A>T	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.1667T>A	12.37:g.88512304A>T	ENSP00000448012:p.Ile556Asn					CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.I558N	p.I556N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			17	2010	-			556					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.1667T>A	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415852	0.83449	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.68479	-0.23;-0.33	5.53	5.53	0.82687	.	0.132706	0.49916	D	0.000133	T	0.72382	0.3453	L	0.45581	1.43	0.80722	D	1	D;D	0.63880	0.993;0.96	P;P	0.59487	0.858;0.657	T	0.68142	-0.5487	10	0.19590	T	0.45	.	15.6828	0.77385	1.0:0.0:0.0:0.0	.	556;556	Q05BJ6;O15078	.;CE290_HUMAN	N	556;558;556;458	ENSP00000448012:I556N;ENSP00000308021:I558N	ENSP00000308021:I558N	I	-	2	0	CEP290	87036435	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.523000	0.90576	2.103000	0.63969	0.477000	0.44152	ATT		0.308	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		2	5	0	0	0	1	0	2	5				
DEFA5	1670	broad.mit.edu	37	8	6914167	6914167	+	Missense_Mutation	SNP	T	T	C	rs371075495		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:6914167T>C	ENST00000330590.2	-	1	89	c.53A>G	c.(52-54)cAg>cGg	p.Q18R		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	18					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGACTCAGCCTGGGCCTGCAG	0.582																																						ENST00000330590.2																			0				NS(1)|lung(4)|skin(1)|stomach(1)	7						c.(52-54)cAg>cGg		defensin, alpha 5, Paneth cell-specific							111.0	101.0	104.0					8																	6914167		2203	4300	6503	SO:0001583	missense	1670				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6914167T>C	BC069690	CCDS5963.1	8p23.1	2007-02-20			ENSG00000164816	ENSG00000164816		"""Defensins, alpha"""	2764	protein-coding gene	gene with protein product		600472		DEF5		1429669	Standard	NM_021010		Approved	HD-5	uc003wra.1	Q01523	OTTHUMG00000090383	ENST00000330590.2:c.53A>G	8.37:g.6914167T>C	ENSP00000329890:p.Gln18Arg						p.Q18R	NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	89	-			18					A0JDY6|Q3KNV2	Missense_Mutation	SNP	ENST00000330590.2	37	c.53A>G	CCDS5963.1	.	.	.	.	.	.	.	.	.	.	.	10.88	1.476039	0.26511	.	.	ENSG00000164816	ENST00000330590	T	0.55413	0.52	2.85	2.85	0.33270	Defensin propeptide (1);	0.459313	0.16286	N	0.221140	T	0.65375	0.2685	.	.	.	0.09310	N	1	D	0.62365	0.991	D	0.74023	0.982	T	0.51560	-0.8690	9	0.52906	T	0.07	.	7.4621	0.27302	0.0:0.0:0.0:1.0	.	18	Q01523	DEF5_HUMAN	R	18	ENSP00000329890:Q18R	ENSP00000329890:Q18R	Q	-	2	0	DEFA5	6901577	0.969000	0.33509	0.096000	0.21009	0.318000	0.28184	1.237000	0.32695	1.320000	0.45209	0.456000	0.33151	CAG		0.582	DEFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206755.1	NM_021010		5	204	0	0	0	1	0	5	204				
FMNL2	114793	broad.mit.edu	37	2	153417395	153417395	+	Splice_Site	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:153417395A>T	ENST00000288670.9	+	6	810		c.e6-1			NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2						cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTTTTGTTTTAGTTTTGACTT	0.428																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.e6-1		formin-like 2							45.0	46.0	46.0					2																	153417395		1852	4096	5948	SO:0001630	splice_region_variant	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153417395A>T	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.444-1A>T	2.37:g.153417395A>T								NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			6	810	+								B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Splice_Site	SNP	ENST00000288670.9	37		CCDS46429.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.510905	0.85389	.	.	ENSG00000157827	ENST00000288670	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6433	0.77025	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FMNL2	153125641	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	8.727000	0.91480	2.149000	0.67028	0.533000	0.62120	.		0.428	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905	Intron	4	33	0	0	0	1	0	4	33				
KRT33B	3884	broad.mit.edu	37	17	39525768	39525768	+	Missense_Mutation	SNP	G	G	A	rs538065184		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr17:39525768G>A	ENST00000251646.3	-	1	284	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	79	Coil 1A.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCGTTGTCCCGCTCCAGCTGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18907	0.001		0.0	False		,,,				2504	0.0					ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(235-237)Cgg>Tgg		keratin 33B							62.0	62.0	62.0					17																	39525768		2203	4297	6500	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39525768G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.235C>T	17.37:g.39525768G>A	ENSP00000251646:p.Arg79Trp						p.R79W	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			1	284	-		Breast(137;0.000496)	79			Coil 1A.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.235C>T	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	N	17.80	3.478145	0.63849	.	.	ENSG00000131738	ENST00000251646	D	0.89196	-2.48	4.41	-0.653	0.11447	Filament (1);	0.111718	0.39759	N	0.001274	D	0.90048	0.6892	L	0.60845	1.875	0.27943	N	0.937449	D	0.71674	0.998	D	0.64877	0.93	T	0.82938	-0.0209	10	0.66056	D	0.02	.	7.4493	0.27229	0.0:0.2416:0.2451:0.5133	.	79	Q14525	KT33B_HUMAN	W	79	ENSP00000251646:R79W	ENSP00000251646:R79W	R	-	1	2	KRT33B	36779294	0.049000	0.20398	0.999000	0.59377	0.996000	0.88848	-0.011000	0.12721	0.135000	0.18707	0.650000	0.86243	CGG		0.607	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		4	150	0	0	0	1	0	4	150				
WDR20	91833	broad.mit.edu	37	14	102676199	102676199	+	Silent	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:102676199G>A	ENST00000342702.3	+	3	1723	c.1692G>A	c.(1690-1692)gtG>gtA	p.V564V	WDR20_ENST00000335263.5_Splice_Site_p.V564V|WDR20_ENST00000545563.1_Silent_p.V391V|WDR20_ENST00000499851.2_Silent_p.V307V|WDR20_ENST00000424963.2_Silent_p.V440V|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000454394.2_Silent_p.V595V|WDR20_ENST00000556807.1_Splice_Site_p.V503V|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556511.2_Silent_p.V503V	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	564										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CTGGTAAAGTGGTAAGTTTTA	0.408																																						ENST00000335263.5																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.e3+1		WD repeat domain 20							90.0	92.0	92.0					14																	102676199		2203	4300	6503	SO:0001819	synonymous_variant	91833							g.chr14:102676199G>A	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1692G>A	14.37:g.102676199G>A						WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000545563.1_Silent_p.V391V|WDR20_ENST00000556807.1_Splice_Site_p.V503_splice|WDR20_ENST00000424963.2_Silent_p.V440V|WDR20_ENST00000499851.2_Silent_p.V307V|WDR20_ENST00000342702.3_Silent_p.V564V|WDR20_ENST00000454394.2_Silent_p.V595V|WDR20_ENST00000556511.2_Silent_p.V503V	p.V564_splice	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN			3	1772	+			564					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Splice_Site	SNP	ENST00000342702.3	37	c.1692_splice	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342162	0.24339	.	.	ENSG00000140153	ENST00000556511	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	T	0.77039	0.4072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74012	-0.3801	4	.	.	.	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	.	.	.	S	495	.	.	G	+	1	0	WDR20	101745952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.467000	0.97671	2.822000	0.97130	0.650000	0.86243	GGT		0.408	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		4	181	0	0	0	1	0	4	181				
SMC1B	27127	broad.mit.edu	37	22	45798245	45798245	+	Silent	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr22:45798245A>T	ENST00000357450.4	-	5	821	c.822T>A	c.(820-822)acT>acA	p.T274T	SMC1B_ENST00000404354.3_Silent_p.T274T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	274					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)		GTAGTTGTCTAGTTAGCATTC	0.323																																						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.(820-822)acT>acA		structural maintenance of chromosomes 1B							149.0	125.0	133.0					22																	45798245		1849	4085	5934	SO:0001819	synonymous_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45798245A>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.822T>A	22.37:g.45798245A>T						SMC1B_ENST00000404354.3_Silent_p.T274T	p.T274T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	5	821	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	274					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	c.822T>A	CCDS43027.1																																																																																				0.323	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		5	95	0	0	0	1	0	5	95				
LFNG	3955	broad.mit.edu	37	7	2552830	2552830	+	Silent	SNP	G	G	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:2552830G>A	ENST00000402506.1	+	2	213	c.87G>A	c.(85-87)agG>agA	p.R29R		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)	p.R29R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCTCAGGAAGGCTGTGGGATG	0.532																																						ENST00000402506.1																			1	Substitution - coding silent(1)	p.R29R(1)	kidney(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(85-87)agG>agA		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							159.0	147.0	151.0					7																	2552830		1568	3582	5150	SO:0001819	synonymous_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2552830G>A	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000402506.1:c.87G>A	7.37:g.2552830G>A							p.R29R	NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	2	213	+		Ovarian(82;0.0112)	0					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Silent	SNP	ENST00000402506.1	37	c.87G>A	CCDS55081.1																																																																																				0.532	LFNG-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000325023.1	NM_002304		12	44	0	0	0	1	0	12	44				
KANSL1L	151050	broad.mit.edu	37	2	211018808	211018808	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:211018808G>T	ENST00000281772.9	-	2	762	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	KANSL1L_ENST00000429908.2_5'Flank|KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000457374.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000452086.1_Missense_Mutation_p.Q167K	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	167						histone acetyltransferase complex (GO:0000123)		p.Q167K(1)									TTTTGTAGTTGTACTTTATCT	0.333																																						ENST00000281772.9																			1	Substitution - Missense(1)	p.Q167K(1)	kidney(1)								c.(499-501)Caa>Aaa		KAT8 regulatory NSL complex subunit 1-like							115.0	108.0	110.0					2																	211018808		2203	4300	6503	SO:0001583	missense	151050							g.chr2:211018808G>T	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.499C>A	2.37:g.211018808G>T	ENSP00000281772:p.Gln167Lys					KANSL1L_ENST00000457374.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000452086.1_Missense_Mutation_p.Q167K|KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q167K	p.Q167K	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			2	762	-			167					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.499C>A	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	G	0.974	-0.699296	0.03279	.	.	ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.	.	.	5.81	4.89	0.63831	.	0.381555	0.26567	N	0.023660	T	0.25457	0.0619	N	0.24115	0.695	0.18873	N	0.999983	B;B;B;B	0.30236	0.169;0.274;0.264;0.137	B;B;B;B	0.30401	0.079;0.115;0.085;0.085	T	0.15694	-1.0428	9	0.06236	T	0.91	.	11.9776	0.53100	0.0711:0.1339:0.795:0.0	.	167;167;167;167	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.;.;.;CB067_HUMAN	K	167	.	ENSP00000281772:Q167K	Q	-	1	0	C2orf67	210727053	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	1.840000	0.39230	2.765000	0.95021	0.558000	0.71614	CAA		0.333	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		20	36	1	0	3.99206e-14	1	4.90875e-14	20	36				
NCOA4	8031	broad.mit.edu	37	10	51580882	51580882	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr10:51580882A>T	ENST00000443446.1	+	4	514	c.285A>T	c.(283-285)ttA>ttT	p.L95F	NCOA4_ENST00000344348.6_Missense_Mutation_p.L95F|NCOA4_ENST00000374087.4_Missense_Mutation_p.L95F|NCOA4_ENST00000452682.1_Missense_Mutation_p.L111F|NCOA4_ENST00000374082.1_Missense_Mutation_p.L95F|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000438493.1_Missense_Mutation_p.L111F|NCOA4_ENST00000498586.1_3'UTR	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	95					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCTTTTAGTTATTGGGCCAGT	0.393			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(331-333)ttA>ttT		nuclear receptor coactivator 4							132.0	128.0	130.0					10																	51580882		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51580882A>T	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.285A>T	10.37:g.51580882A>T	ENSP00000390713:p.Leu95Phe					NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000374087.4_Missense_Mutation_p.L95F|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000344348.6_Missense_Mutation_p.L95F|NCOA4_ENST00000438493.1_Missense_Mutation_p.L111F|NCOA4_ENST00000374082.1_Missense_Mutation_p.L95F|NCOA4_ENST00000443446.1_Missense_Mutation_p.L95F	p.L111F	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			5	585	+			95					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.333A>T	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488140	0.64074	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000374087;ENST00000330923;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.51	0.485	0.16830	.	0.169282	0.39985	N	0.001206	T	0.42966	0.1226	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.984	T	0.21999	-1.0229	10	0.41790	T	0.15	-4.8012	5.1946	0.15230	0.3793:0.316:0.3047:0.0	.	111;111;95	B4E260;E9PAV7;Q13772	.;.;NCOA4_HUMAN	F	111;111;95;95;95;95;95	ENSP00000405146:L111F;ENSP00000395465:L111F;ENSP00000363200:L95F;ENSP00000344552:L95F;ENSP00000363195:L95F;ENSP00000390713:L95F	ENSP00000332421:L95F	L	+	3	2	NCOA4	51250888	0.000000	0.05858	0.949000	0.38748	0.976000	0.68499	-0.377000	0.07456	0.060000	0.16281	0.378000	0.23410	TTA		0.393	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		3	37	0	0	0	1	0	3	37				
GOLGA4	2803	broad.mit.edu	37	3	37367635	37367635	+	Missense_Mutation	SNP	A	A	G	rs146784733		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr3:37367635A>G	ENST00000361924.2	+	14	4632	c.4258A>G	c.(4258-4260)Aaa>Gaa	p.K1420E	GOLGA4_ENST00000356847.4_Missense_Mutation_p.K1442E|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1420	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTATCTTTTAAAGTTGACAC	0.373																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4258-4260)Aaa>Gaa		golgin A4		A	GLU/LYS,GLU/LYS	2,4390		0,2,2194	58.0	63.0	61.0		4324,4258	4.1	0.5	3	dbSNP_134	61	0,8594		0,0,4297	no	missense,missense	GOLGA4	NM_001172713.1,NM_002078.4	56,56	0,2,6491	GG,GA,AA		0.0,0.0455,0.0154	probably-damaging,probably-damaging	1442/2244,1420/2231	37367635	2,12984	2196	4297	6493	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367635A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4258A>G	3.37:g.37367635A>G	ENSP00000354486:p.Lys1420Glu					GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.K1442E	p.K1420E	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	4632	+			1420			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.4258A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	5.433	0.265011	0.10294	4.55E-4	0.0	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.25250	1.82;1.81;1.81	5.25	4.06	0.47325	.	0.406531	0.18233	N	0.147516	T	0.23727	0.0574	M	0.72118	2.19	0.09310	N	1	P;P;P;P	0.43094	0.617;0.465;0.465;0.799	B;B;B;B	0.37144	0.242;0.124;0.124;0.115	T	0.18461	-1.0336	10	0.06757	T	0.87	.	12.1922	0.54278	0.8572:0.1428:0.0:0.0	.	1420;1420;1442;1420	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	E	1420;1442;1291	ENSP00000354486:K1420E;ENSP00000349305:K1442E;ENSP00000405842:K1291E	ENSP00000349305:K1442E	K	+	1	0	GOLGA4	37342639	0.528000	0.26314	0.540000	0.28089	0.172000	0.22775	4.183000	0.58317	0.807000	0.34208	0.460000	0.39030	AAA		0.373	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		3	97	0	0	0	1	0	3	97				
DENND2C	163259	broad.mit.edu	37	1	115141947	115141947	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:115141947A>T	ENST00000393274.1	-	16	2856	c.2231T>A	c.(2230-2232)aTt>aAt	p.I744N	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000393276.3_Missense_Mutation_p.I687N	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	744	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGATTCCAATAAGGAATGG	0.458																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(2230-2232)aTt>aAt		DENN/MADD domain containing 2C							172.0	146.0	154.0					1																	115141947		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115141947A>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2231T>A	1.37:g.115141947A>T	ENSP00000376955:p.Ile744Asn					DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.I687N|DENND2C_ENST00000393277.1_Intron	p.I744N	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2856	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	744			DENN.		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.2231T>A	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.876141	0.91664	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540	T;T	0.16073	2.37;2.37	5.81	5.81	0.92471	DENN (3);	0.000000	0.85682	U	0.000000	T	0.44540	0.1298	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.987	T	0.57923	-0.7727	10	0.87932	D	0	.	16.2128	0.82178	1.0:0.0:0.0:0.0	.	744;687	Q68D51;Q68D51-3	DEN2C_HUMAN;.	N	687;744;744	ENSP00000376957:I687N;ENSP00000376955:I744N	ENSP00000358553:I744N	I	-	2	0	DENND2C	114943470	1.000000	0.71417	0.978000	0.43139	0.987000	0.75469	8.832000	0.92079	2.234000	0.73211	0.524000	0.50904	ATT		0.458	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		5	132	0	0	0	1	0	5	132				
SLC4A1AP	22950	broad.mit.edu	37	2	27886994	27886994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:27886994C>A	ENST00000326019.6	+	1	657	c.375C>A	c.(373-375)tgC>tgA	p.C125*	SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000404798.2_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	125						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)					AGCCGGACTGCGGTGATTTTA	0.627																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(373-375)tgC>tgA		solute carrier family 4 (anion exchanger), member 1, adaptor protein							49.0	55.0	53.0					2																	27886994		2203	4300	6503	SO:0001587	stop_gained	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27886994C>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.375C>A	2.37:g.27886994C>A	ENSP00000323837:p.Cys125*						p.C125*	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			1	657	+	Acute lymphoblastic leukemia(172;0.155)		125					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Nonsense_Mutation	SNP	ENST00000326019.6	37	c.375C>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825682	0.90955	.	.	ENSG00000163798	ENST00000326019	.	.	.	4.4	0.469	0.16741	.	0.938371	0.08906	N	0.876548	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	0.5761	1.0886	0.01659	0.1566:0.4192:0.1527:0.2715	.	.	.	.	X	125	.	ENSP00000323837:C125X	C	+	3	2	SLC4A1AP	27740498	0.546000	0.26457	0.000000	0.03702	0.011000	0.07611	0.176000	0.16782	-0.031000	0.13781	-0.266000	0.10368	TGC		0.627	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		10	126	1	0	0.000442599	1	0.000480206	10	126				
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6745-6747)cccfs	p.P2249fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2249	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554																																						ENST00000375759.3																			1	Deletion - Frameshift(1)	p.A2251fs*102(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6742-6747)caccccfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259479_16259480insC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6750dupC	1.37:g.16259485_16259485dupC	ENSP00000364912:p.Pro2249fs						p.HP2248fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6948_6949	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2248			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.6744_6745insC	CCDS164.1																																																																																				0.554	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		7	353						7	353	---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26885310	26885311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:26885310_26885311insC	ENST00000374168.2	+	14	1251_1252	c.1097_1098insC	c.(1096-1101)atccccfs	p.IP366fs	RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.IP274fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.IP274fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.IP350fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.IP355fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.IP375fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCCCCAGGCATCCCCCCCAGCG	0.673																																						ENST00000374168.2																			0				lung(1)	1						c.(1096-1098)accfs		ribosomal protein S6 kinase, 90kDa, polypeptide 1																																				SO:0001589	frameshift_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26885310_26885311insC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1104dupC	1.37:g.26885317_26885317dupC	ENSP00000363283:p.Ile366fs					RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T350fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.T375fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T355fs	p.T366fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	14	1251_1252	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	366			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Ins	INS	ENST00000374168.2	37	c.1097_1098insC	CCDS284.1																																																																																				0.673	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		7	105						7	105	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Insertion - Frameshift(3)	p.G1848fs*6(3)	ovary(2)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5539-5544)ggggggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs					ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	p.GG1847fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5912_5913	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		10	240						10	240	---	---	---	---
THEMIS2	9473	broad.mit.edu	37	1	28209480	28209481	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:28209480_28209481insC	ENST00000373921.3	+	4	1649_1650	c.1645_1646insC	c.(1645-1647)gccfs	p.A549fs	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Frame_Shift_Ins_p.A420fs	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	549					cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGAGATCCAAGCCCCCCCACCC	0.574																																						ENST00000373921.3																			0											c.(1645-1647)cccfs		thymocyte selection associated family member 2																																				SO:0001589	frameshift_variant	9473							g.chr1:28209480_28209481insC	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1652dupC	1.37:g.28209487_28209487dupC	ENSP00000363031:p.Ala549fs					THEMIS2_ENST00000328928.7_Frame_Shift_Ins_p.P420fs|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Intron	p.P549fs	NM_001105556.1	NP_001099026.1					4	1649_1650	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Frame_Shift_Ins	INS	ENST00000373921.3	37	c.1645_1646insC	CCDS41290.1																																																																																				0.574	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		9	102						9	102	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	p.P344fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		8	341						8	341	---	---	---	---
SDC3	9672	broad.mit.edu	37	1	31347369	31347370	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:31347369_31347370insC	ENST00000339394.6	-	4	1110_1111	c.936_937insG	c.(934-939)gggcccfs	p.P313fs	SDC3_ENST00000471567.1_5'Flank|SDC3_ENST00000336798.7_Frame_Shift_Ins_p.P255fs	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	313					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCACTGGGCCCCCCACTCA	0.609																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(760-765)ggccagfs		syndecan 3																																				SO:0001589	frameshift_variant	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31347369_31347370insC	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.937dupG	1.37:g.31347375_31347375dupC	ENSP00000344468:p.Pro313fs					SDC3_ENST00000339394.6_Frame_Shift_Ins_p.Q313fs	p.Q255fs			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	2	2254_2255	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	313			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Frame_Shift_Ins	INS	ENST00000339394.6	37	c.762_763insG	CCDS30661.1																																																																																				0.609	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		8	311						8	311	---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:31406073_31406074insG	ENST00000257075.5	-	22	3638_3639	c.3545_3546insC	c.(3544-3546)cctfs	p.P1182fs	PUM1_ENST00000440538.2_Frame_Shift_Ins_p.P1158fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.P940fs|PUM1_ENST00000373747.3_Frame_Shift_Ins_p.P1185fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.P1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.P1123fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.P1040fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.P1184fs|SNORD103A_ENST00000363284.1_RNA	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3553-3555)caafs		pumilio RNA-binding family member 1																																				SO:0001589	frameshift_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31406073_31406074insG	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3546dupC	1.37:g.31406079_31406079dupG	ENSP00000257075:p.Pro1182fs					PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs	p.Q1185fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	22	3653_3654	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1182					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Frame_Shift_Ins	INS	ENST00000257075.5	37	c.3554_3555insC	CCDS338.1																																																																																				0.525	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			7	309						7	309	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:33233494_33233495insC	ENST00000373480.1	+	2	268_269	c.165_166insC	c.(166-168)cccfs	p.P56fs	KIAA1522_ENST00000401073.2_Frame_Shift_Ins_p.P115fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.P56fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.P67fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	56										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(340-345)cgccccfs		KIAA1522																																				SO:0001589	frameshift_variant	57648							g.chr1:33233494_33233495insC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.172dupC	1.37:g.33233501_33233501dupC	ENSP00000362579:p.Pro56fs					KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs	p.RP114fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			2	412_413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	55		S -> P (in dbSNP:rs3737994).			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Ins	INS	ENST00000373480.1	37	c.342_343insC	CCDS55588.1																																																																																				0.614	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			8	142						8	142	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636586	36636587	+	Frame_Shift_Ins	INS	-	-	C	rs145462639		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:36636586_36636587insC	ENST00000373151.2	+	2	277_278	c.61_62insC	c.(61-63)accfs	p.T21fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.T21fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.T21fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	21	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GGTCGCCAGGACCCCCCCAGAG	0.614																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(61-63)cccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636586_36636587insC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.68dupC	1.37:g.36636593_36636593dupC	ENSP00000362244:p.Thr21fs					MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P21fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P21fs	p.P21fs			Q3KQU3	MA7D1_HUMAN			2	514_515	+		Myeloproliferative disorder(586;0.0393)	21			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.61_62insC	CCDS30673.1																																																																																				0.614	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		8	295						8	295	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636625	36636626	+	Frame_Shift_Ins	INS	-	-	C	rs200289388		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:36636625_36636626insC	ENST00000373151.2	+	2	316_317	c.100_101insC	c.(100-102)tccfs	p.S34fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.S34fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.S34fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGTGACCCTTCCCCCCCACCA	0.594																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(100-102)cccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636625_36636626insC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.107dupC	1.37:g.36636632_36636632dupC	ENSP00000362244:p.Ser34fs					MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P34fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P34fs	p.P34fs			Q3KQU3	MA7D1_HUMAN			2	553_554	+		Myeloproliferative disorder(586;0.0393)	34			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.100_101insC	CCDS30673.1																																																																																				0.594	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		7	243						7	243	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.S469fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1402-1407)ccgcgcfs		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)																																			SO:0001589	frameshift_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36935322_36935323insG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1405dupC	1.37:g.36935329_36935329dupG	ENSP00000362198:p.Ser469fs					CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs	p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			11	1951_1952	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	469			Fibronectin type-III 4.			Frame_Shift_Ins	INS	ENST00000373106.1	37	c.1404_1405insC	CCDS413.1																																																																																				0.634	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		14	319						14	319	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392|rs371531691		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:42050006_42050007insG	ENST00000372583.1	-	4	1347_1348	c.462_463insC	c.(460-465)cccgagfs	p.E155fs	HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000372584.1_Frame_Shift_Ins_p.E155fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.E155fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					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)				GGAAGGTCCTCGGGGGGAATGA	0.604																																						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.(460-465)ccaggafs		human immunodeficiency virus type I enhancer binding protein 3																																				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050006_42050007insG	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.463dupC	1.37:g.42050012_42050012dupG	ENSP00000361664:p.Glu155fs					HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs	p.G155fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1476_1477	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	155					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Ins	INS	ENST00000372583.1	37	c.462_463insC	CCDS463.1																																																																																				0.604	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		8	228						8	228	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-267)ttccccfs	p.FP88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.FP88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.FP88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(262-264)tccfs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878032_44878033insC	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.269dupC	1.37:g.44878038_44878038dupC	ENSP00000347548:p.Phe88fs					RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs	p.S88fs			Q5VTB9	RN220_HUMAN			2	713_714	+			88					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Ins	INS	ENST00000355387.2	37	c.263_264insC	CCDS510.1																																																																																				0.515	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		11	1315						11	1315	---	---	---	---
LURAP1	541468	broad.mit.edu	37	1	46685795	46685802	+	Frame_Shift_Del	DEL	GTGGACCA	GTGGACCA	-	rs368699041		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:46685795_46685802delGTGGACCA	ENST00000371980.3	+	2	716_723	c.623_630delGTGGACCA	c.(622-630)ggtggaccafs	p.GGP208fs	POMGNT1_ENST00000396420.3_5'UTR|POMGNT1_ENST00000371992.1_5'UTR	NM_001013615.2	NP_001013633.1	Q96LR2	LURA1_HUMAN	leucine rich adaptor protein 1	208					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)											AGGCTTCAAGGTGGACCACCTGAGTCAC	0.587																																						ENST00000371980.3																			0											c.(622-630)gfs		leucine rich adaptor protein 1																																				SO:0001589	frameshift_variant	541468				positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm		g.chr1:46685795_46685802delGTGGACCA	AK057892	CCDS30703.1	1p34.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000171357	ENSG00000171357			32327	protein-coding gene	gene with protein product	"""leucine repeat adaptor protein 35a"""		"""chromosome 1 open reading frame 190"""	C1orf190		21048106	Standard	NM_001013615		Approved	FLJ25163, LRAP35a	uc010oma.2	Q96LR2	OTTHUMG00000007605	ENST00000371980.3:c.623_630delGTGGACCA	1.37:g.46685795_46685802delGTGGACCA	ENSP00000361048:p.Gly208fs					POMGNT1_ENST00000371992.1_5'UTR|POMGNT1_ENST00000396420.3_5'UTR	p.GGP208fs	NM_001013615.2	NP_001013633.1	Q96LR2	CA190_HUMAN			2	716_723	+			208						Frame_Shift_Del	DEL	ENST00000371980.3	37	c.623_630delGTGGACCA	CCDS30703.1																																																																																				0.587	LURAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020154.1	NM_001013615		25	85						25	85	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000474476.1_3'UTR	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(409-414)gtggggfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs					FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	p.VG137fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			4	595_596	+	all_cancers(7;7.36e-05)		137					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		11	155						11	155	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1521)ctccccfs	p.LP506fs	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.5																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1516-1518)cccfs		leucine rich repeat containing 8 family, member C																																				SO:0001589	frameshift_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179646_90179647insC		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1524dupC	1.37:g.90179653_90179653dupC	ENSP00000359483:p.Leu506fs					RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.P506fs	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1772_1773	+		all_lung(203;0.126)	506					B3KXS9|Q29RV6|Q9H075	Frame_Shift_Ins	INS	ENST00000370454.4	37	c.1517_1518insC	CCDS725.1																																																																																				0.500	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		7	127						7	127	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)gggfs		epoxide hydrolase 4																																				SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511121_92511122insG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.515dupG	1.37:g.92511128_92511128dupG	ENSP00000359410:p.Trp170fs						p.G170fs	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			4	606_607	+			170					Q8NCC6	Frame_Shift_Ins	INS	ENST00000370383.4	37	c.508_509insG	CCDS736.1																																																																																				0.386	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		16	242						16	242	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs					OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		26	323						26	323	---	---	---	---
FAM212B	55924	broad.mit.edu	37	1	112269658	112269659	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:112269658_112269659insG	ENST00000357260.5	-	2	1006_1007	c.825_826insC	c.(823-828)cccacafs	p.T276fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T261fs	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	276										cervix(1)|endometrium(1)	2						GGGCAGCTTGTGGGGGGATTCT	0.574																																						ENST00000357260.5																			0				cervix(1)|endometrium(1)	2						c.(823-828)cccaagfs		family with sequence similarity 212, member B																																				SO:0001589	frameshift_variant	55924							g.chr1:112269658_112269659insG	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.826dupC	1.37:g.112269664_112269664dupG	ENSP00000349805:p.Thr276fs					FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.K261fs	p.K276fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN			2	1006_1007	-			276					B3KP38|B4DF94|Q9NTI6	Frame_Shift_Ins	INS	ENST00000357260.5	37	c.825_826insC	CCDS841.1																																																																																				0.574	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		7	733						7	733	---	---	---	---
MAGI3	260425	broad.mit.edu	37	1	114216006	114216007	+	Frame_Shift_Ins	INS	-	-	G	rs201961376		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:114216006_114216007insG	ENST00000307546.9	+	19	3183_3184	c.3108_3109insG	c.(3109-3111)gggfs	p.G1037fs	MAGI3_ENST00000369615.1_Frame_Shift_Ins_p.G1037fs|MAGI3_ENST00000369617.4_Frame_Shift_Ins_p.G1062fs|MAGI3_ENST00000369611.4_Frame_Shift_Ins_p.G1037fs	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1062					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		TCAGCCTCCGAGGGGGGAAGGA	0.49																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3106-3111)cgggggfs		membrane associated guanylate kinase, WW and PDZ domain containing 3																																				SO:0001589	frameshift_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114216006_114216007insG	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3114dupG	1.37:g.114216012_114216012dupG	ENSP00000304604:p.Gly1037fs					MAGI3_ENST00000369617.4_Frame_Shift_Ins_p.RG1061fs|MAGI3_ENST00000369611.4_Frame_Shift_Ins_p.RG1036fs|MAGI3_ENST00000307546.9_Frame_Shift_Ins_p.RG1036fs	p.RG1036fs	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_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)	19	3170_3171	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1061					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Frame_Shift_Ins	INS	ENST00000307546.9	37	c.3108_3109insG	CCDS44196.1																																																																																				0.490	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		7	361						7	361	---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117131467	117131468	+	Frame_Shift_Ins	INS	-	-	C	rs200127721		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:117131467_117131468insC	ENST00000369486.3	-	8	3053_3054	c.2288_2289insG	c.(2287-2289)ggcfs	p.G763fs	IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.G783fs|IGSF3_ENST00000369483.1_Frame_Shift_Ins_p.G783fs	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	763	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G763D(1)|p.G783D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGCTGAACAGGCCCCCCGACAC	0.614																																						ENST00000369486.3																			2	Substitution - Missense(2)	p.G763D(1)|p.G783D(1)	kidney(2)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(2287-2289)gctfs		immunoglobulin superfamily, member 3																																				SO:0001589	frameshift_variant	3321					integral to membrane		g.chr1:117131467_117131468insC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2289dupG	1.37:g.117131473_117131473dupC	ENSP00000358498:p.Gly763fs					IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.A783fs|IGSF3_ENST00000369483.1_Frame_Shift_Ins_p.A783fs	p.A763fs	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	8	3053_3054	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	763			Ig-like C2-type 6.		A6NJZ6|A6NMC7	Frame_Shift_Ins	INS	ENST00000369486.3	37	c.2288_2289insG	CCDS30813.1																																																																																				0.614	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		7	253						7	253	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs					ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	p.DP542fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		11	231						11	231	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150917623	150917624	+	Intron	INS	-	-	G	rs587715611|rs587751384|rs186820437	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:150917623_150917624insG	ENST00000271640.5	+	9	1330				SETDB1_ENST00000368969.4_Intron|SETDB1_ENST00000368962.2_Frame_Shift_Ins_p.G394fs|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAGGTTGGTGGGGGGGGAAC	0.475																																						ENST00000368962.2																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1177-1182)ggggggfs		SET domain, bifurcated 1			,	53,4213		1,51,2081					,	-6.3	0.0			32	26,8228		0,26,4101	no	intron,intron	SETDB1	NM_012432.3,NM_001145415.1	,	1,77,6182	A1A1,A1R,RR		0.315,1.2424,0.631	,	,		79,12441				SO:0001627	intron_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150917623_150917624insG	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1140+39->G	1.37:g.150917631_150917631dupG						SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000271640.5_Intron|SETDB1_ENST00000368969.4_Intron	p.GG393fs	NM_001243491.1	NP_001230420.1	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		9	1305_1306	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		0			Tudor 2.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	ENST00000271640.5	37	c.1179_1180insG	CCDS44217.1																																																																																				0.475	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			7	82						7	82	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152324299	152324317	+	Frame_Shift_Del	DEL	GATCCTGACTCTGGATAGT	GATCCTGACTCTGGATAGT	-	rs535751082|rs386635461|rs386635462|rs557443846|rs148579744|rs199899373|rs537890764	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:152324299_152324317delGATCCTGACTCTGGATAGT	ENST00000388718.5	-	3	6017_6035	c.5945_5963delACTATCCAGAGTCAGGATC	c.(5944-5964)cactatccagagtcaggatccfs	p.HYPESGS1982fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1982					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.S1988Y(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)			ATGAACTGAGGATCCTGACTCTGGATAGTGAGATCCAGC	0.534																																						ENST00000388718.5																			1	Substitution - Missense(1)	p.S1988Y(1)	lung(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.(5944-5964)ccfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324299_152324317delGATCCTGACTCTGGATAGT	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.5945_5963delACTATCCAGAGTCAGGATC	1.37:g.152324299_152324317delGATCCTGACTCTGGATAGT	ENSP00000373370:p.His1982fs					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.HYPESGS1982fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6017_6035	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1982					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5945_5963delACTATCCAGAGTCAGGATC	CCDS30861.1																																																																																				0.534	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		23	742						23	742	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325835	152325848	+	Frame_Shift_Del	DEL	GTGGTATCTCCTGT	GTGGTATCTCCTGT	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:152325835_152325848delGTGGTATCTCCTGT	ENST00000388718.5	-	3	4486_4499	c.4414_4427delACAGGAGATACCAC	c.(4414-4428)acaggagataccactfs	p.TGDTT1472fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1472					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)			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)			GGCATGTCTAGTGGTATCTCCTGTCTGTCCATGA	0.5																																						ENST00000388718.5																			0				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.(4414-4428)tfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325835_152325848delGTGGTATCTCCTGT	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.4414_4427delACAGGAGATACCAC	1.37:g.152325835_152325848delGTGGTATCTCCTGT	ENSP00000373370:p.Thr1472fs					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.TGDTT1472fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4486_4499	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1472					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.4414_4427delACAGGAGATACCAC	CCDS30861.1																																																																																				0.500	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		35	632						35	632	---	---	---	---
SLC39A1	27173	broad.mit.edu	37	1	153934780	153934781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:153934780_153934781insC	ENST00000368623.3	-	2	992_993	c.233_234insG	c.(232-234)ggcfs	p.G78fs	SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	78					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCAAAAAGACGCCCCCCGCGAA	0.614																																						ENST00000368623.3																			0				kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(232-234)ggtfs		solute carrier family 39 (zinc transporter), member 1																																				SO:0001589	frameshift_variant	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153934780_153934781insC	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.234dupG	1.37:g.153934786_153934786dupC	ENSP00000357612:p.Gly78fs					SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs	p.G78fs			Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	2	992_993	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		78					B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Frame_Shift_Ins	INS	ENST00000368623.3	37	c.233_234insG	CCDS1055.1																																																																																				0.614	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		10	129						10	129	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642803	156642804	+	Frame_Shift_Ins	INS	-	-	G	rs372020167		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:156642803_156642804insG	ENST00000368223.3	-	4	1308_1309	c.1176_1177insC	c.(1174-1179)cccacafs	p.T393fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	393	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGAGGTGTGGGGGGGATGG	0.594																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1174-1179)cccaccfs		nestin																																				SO:0001589	frameshift_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642803_156642804insG	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1177dupC	1.37:g.156642810_156642810dupG	ENSP00000357206:p.Thr393fs						p.T393fs	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1308_1309	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		393			Tail.		O00552|Q3LIF5|Q5SYZ6	Frame_Shift_Ins	INS	ENST00000368223.3	37	c.1176_1177insC	CCDS1151.1																																																																																				0.594	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		8	116						8	116	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156694022	156694023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:156694022_156694023insG	ENST00000313146.6	-	2	1647_1648	c.865_866insC	c.(865-867)ctcfs	p.L289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.L289fs|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(865-867)caafs		interferon stimulated exonuclease gene 20kDa-like 2																																				SO:0001589	frameshift_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156694022_156694023insG	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.866dupC	1.37:g.156694030_156694030dupG	ENSP00000323424:p.Leu289fs					ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.Q289fs|ISG20L2_ENST00000472824.1_5'UTR	p.Q289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN			2	1647_1648	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		289			Exonuclease.		D3DVC6|Q64KA2	Frame_Shift_Ins	INS	ENST00000313146.6	37	c.865_866insC	CCDS1153.1																																																																																				0.559	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		8	127						8	127	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171227337	171227338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:171227337_171227338insG	ENST00000354841.4	+	1	242_243	c.111_112insG	c.(112-114)gggfs	p.G38fs	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Frame_Shift_Ins_p.G38fs|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.G38fs	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	38					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GCGATGACCTTGGGGGGCTGTG	0.53																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(109-114)ctggggfs		flavin containing monooxygenase 1																																				SO:0001589	frameshift_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171227337_171227338insG	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.117dupG	1.37:g.171227343_171227343dupG	ENSP00000346901:p.Gly38fs					FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000469112.1_3'UTR	p.LG37fs			Q01740	FMO1_HUMAN			1	242_243	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		37					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Frame_Shift_Ins	INS	ENST00000354841.4	37	c.111_112insG	CCDS1294.1																																																																																				0.530	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		13	268						13	268	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					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)			CACAACGTGATCCCCCCCAAAA	0.48																																						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.(253-255)accfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667345_203667346insC	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.261dupC	1.37:g.203667352_203667352dupC	ENSP00000350310:p.Ile85fs					ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1377_1378	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		85					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.254_255insC	CCDS1440.1																																																																																				0.480	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		9	211						9	211	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				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)	p.R287fs*92(1)		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)			GGCATAGGTGCGGGGGGGCACC	0.624																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	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.(859-861)cacfs		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.chr1:204438071_204438072insG	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.860dupC	1.37:g.204438078_204438078dupG	ENSP00000356155:p.Arg287fs					PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	p.H287fs	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)		3	1415_1416	-	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)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.859_860insC	CCDS1446.1																																																																																				0.624	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		16	255						16	255	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs					CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		9	301						9	301	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G	rs200374067	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)catfs	p.H465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594																																						ENST00000367033.3																			1	Deletion - Frameshift(1)	p.H465fs*57(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1393-1395)tggfs		plexin A2																																				SO:0001589	frameshift_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208315786_208315787insG	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1394dupC	1.37:g.208315793_208315793dupG	ENSP00000356000:p.His465fs						p.W465fs	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	4	2150_2151	-			465			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Ins	INS	ENST00000367033.3	37	c.1393_1394insC	CCDS31013.1																																																																																				0.594	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		21	928						21	928	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9528642	9528643	+	Frame_Shift_Ins	INS	-	-	C	rs376816649		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:9528642_9528643insC	ENST00000281419.3	+	22	2690_2691	c.2350_2351insC	c.(2350-2352)gccfs	p.A784fs	ASAP2_ENST00000315273.4_Frame_Shift_Ins_p.A784fs|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	784	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CACCACCAGCGCCCCCCCGCTT	0.579																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(2350-2352)cccfs		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2			,	9,4257		0,9,2124					,	5.6	1.0			28	12,8240		0,12,4114	no	frameshift,frameshift	ASAP2	NM_003887.2,NM_001135191.1	,	0,21,6238	A1A1,A1R,RR		0.1454,0.211,0.1678	,	,		21,12497				SO:0001589	frameshift_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9528642_9528643insC	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2357dupC	2.37:g.9528649_9528649dupC	ENSP00000281419:p.Ala784fs					ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Frame_Shift_Ins_p.P784fs	p.P784fs	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			22	2690_2691	+			784			Pro-rich.		D6W4Y8	Frame_Shift_Ins	INS	ENST00000281419.3	37	c.2350_2351insC	CCDS1661.1																																																																																				0.579	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		7	70						7	70	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54096596	54096596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:54096596delT	ENST00000404125.1	-	44	5235	c.5180delA	c.(5179-5181)catfs	p.H1727fs	PSME4_ENST00000421748.2_Frame_Shift_Del_p.H871fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1727	Bromodomain-like (BRDL).				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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGCTCAAAATGAATCTGCAT	0.408																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5179-5181)ctfs		proteasome (prosome, macropain) activator subunit 4							208.0	197.0	201.0					2																	54096596		2203	4300	6503	SO:0001589	frameshift_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54096596delT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5180delA	2.37:g.54096596delT	ENSP00000384211:p.His1727fs					PSME4_ENST00000421748.2_Frame_Shift_Del_p.H871fs|PSME4_ENST00000476586.1_5'UTR	p.H1727fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		44	5235	-			1727					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Del	DEL	ENST00000404125.1	37	c.5180delA	CCDS33197.2																																																																																				0.408	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		22	306						22	306	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNU6-1216P_ENST00000362590.2_RNA|RNA5SP96_ENST00000516041.1_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1324-1326)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs						p.P442fs	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			16	1646_1647	+			442					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		10	526						10	526	---	---	---	---
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1152)taccccfs	p.YP383fs	AC007040.11_ENST00000606025.1_Intron|RN7SL160P_ENST00000468558.2_RNA|ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.YP366fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(1147-1149)tccfs		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1																																				SO:0001589	frameshift_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71191572_71191573insC	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1155dupC	2.37:g.71191579_71191579dupC	ENSP00000234396:p.Tyr383fs		OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs|AC007040.11_ENST00000606025.1_Intron	p.S383fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			12	1221_1222	+			383					Q53FY0|Q6P4H6	Frame_Shift_Ins	INS	ENST00000234396.4	37	c.1148_1149insC	CCDS1912.1																																																																																				0.545	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		7	158						7	158	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:74480126_74480127insG	ENST00000377634.4	-	15	1641_1642	c.1242_1243insC	c.(1240-1245)cccaagfs	p.K415fs	SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.K415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000394019.2_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.K351fs					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCACCTTCTTGGGGGGCTCAA	0.475																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1240-1245)ccagaafs		solute carrier family 4 (sodium bicarbonate cotransporter), member 5																																				SO:0001589	frameshift_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74480126_74480127insG	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1243dupC	2.37:g.74480132_74480132dupG	ENSP00000366861:p.Lys415fs					SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000483195.1_5'UTR	p.E415fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			15	1639_1640	-			415						Frame_Shift_Ins	INS	ENST00000377634.4	37	c.1242_1243insC	CCDS1936.1																																																																																				0.475	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			8	401						8	401	---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96781252	96781253	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:96781252_96781253insC	ENST00000409345.3	-	1	731_732	c.636_637insG	c.(634-639)gggcctfs	p.P213fs		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	213					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCCTGCCCAGGCCCCCCCTTGG	0.619																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(634-639)ggctggfs		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)																																			SO:0001589	frameshift_variant	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781252_96781253insC	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.637dupG	2.37:g.96781259_96781259dupC	ENSP00000387281:p.Pro213fs						p.W213fs	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	731_732	-			213					Q4TUH9|Q53RF2|Q9BZK0	Frame_Shift_Ins	INS	ENST00000409345.3	37	c.636_637insG	CCDS56129.1																																																																																				0.619	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			12	336						12	336	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)tccfs	p.S241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.S241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.S241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TGTGATCATTTCCCCCCTCAAG	0.49																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(721-723)cccfs		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638681_102638682insC	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.727dupC	2.37:g.102638687_102638687dupC	ENSP00000330959:p.Ser241fs					IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs	p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			6	950_951	+			241			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.721_722insC	CCDS2054.1																																																																																				0.490	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		7	319						7	319	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:128774049_128774050insG	ENST00000259235.3	-	4	627_628	c.498_499insC	c.(496-501)cccaagfs	p.K167fs	SAP130_ENST00000357702.5_Frame_Shift_Ins_p.K167fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.K141fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.53																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(496-501)ccaggtfs		Sin3A-associated protein, 130kDa																																				SO:0001589	frameshift_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128774049_128774050insG	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.499dupC	2.37:g.128774055_128774055dupG	ENSP00000259235:p.Lys167fs					SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs	p.G167fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	4	629_630	-	Colorectal(110;0.1)		167			Pro-rich.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Frame_Shift_Ins	INS	ENST00000259235.3	37	c.498_499insC	CCDS2153.1																																																																																				0.530	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		8	157						8	157	---	---	---	---
LOC101928553	101928553	broad.mit.edu	37	2	149629672	149629673	+	RNA	INS	-	-	C	rs370090371|rs535247185		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:149629672_149629673insC	ENST00000601658.1	-	0	676																											CTCTGGCCCTGCCCCCCCCCAA	0.441																																						ENST00000601658.1																			0																																																			101928553							g.chr2:149629672_149629673insC																													2.37:g.149629681_149629681dupC														0	676	-									RNA	INS	ENST00000601658.1	37																																																																																						0.441	AC105402.4-002	KNOWN	basic	antisense	antisense	OTTHUMT00000462024.1			6	6						6	6	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs					XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs	p.TG685fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		7	259						7	259	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1249-1254)aaccccfs		myosin IIIB																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs					MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs	p.NP417fs			Q8WXR4	MYO3B_HUMAN			12	1251_1252	+			408			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1251_1252insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			10	336						10	336	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CI992797	NEUROD1	I		c.(616-618)cctfs		neuronal differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs					NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		17	187						17	187	---	---	---	---
VIL1	7429	broad.mit.edu	37	2	219301230	219301231	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:219301230_219301231insC	ENST00000248444.5	+	16	1940_1941	c.1852_1853insC	c.(1852-1854)accfs	p.T618fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.T307fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	618	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGTCATCACCCCCCGGCTC	0.5																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1852-1854)cccfs		villin 1																																				SO:0001589	frameshift_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219301230_219301231insC	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1858dupC	2.37:g.219301236_219301236dupC	ENSP00000248444:p.Thr618fs					VIL1_ENST00000392114.2_Frame_Shift_Ins_p.P307fs	p.P618fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	1940_1941	+		Renal(207;0.0474)	618			Core.		B2R9A7|Q53S11|Q96AC8	Frame_Shift_Ins	INS	ENST00000248444.5	37	c.1852_1853insC	CCDS2417.1																																																																																				0.500	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		11	634						11	634	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1210-1212)cccfs		inositol polyphosphate-5-phosphatase, 145kDa																																				SO:0001589	frameshift_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072358_234072359insC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1217dupC	2.37:g.234072365_234072365dupC	ENSP00000352575:p.Ala404fs					INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs	p.P404fs			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1210_1211	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	416					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Ins	INS	ENST00000359570.5	37	c.1210_1211insC																																																																																					0.535	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		12	330						12	330	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs					NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		15	353						15	353	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs						p.G493fs	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		7	455						7	455	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:79238582_79238583insC	ENST00000325942.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1884)agccccfs	p.SP627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.SP627fs|FRAS1_ENST00000264895.6_Frame_Shift_Ins_p.SP627fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	627					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1879-1881)accfs		Fraser syndrome 1																																				SO:0001589	frameshift_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79238582_79238583insC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1887dupC	4.37:g.79238589_79238589dupC	ENSP00000326330:p.Ser627fs					FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs	p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			17	2320_2321	+			627					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Ins	INS	ENST00000325942.6	37	c.1880_1881insC	CCDS54772.1																																																																																				0.574	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			9	147						9	147	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)gggaaafs	p.K1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.K1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3811-3816)ggaatcfs		ankyrin repeat domain 50																																				SO:0001589	frameshift_variant	57182							g.chr4:125590618_125590619insC	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3814dupG	4.37:g.125590624_125590624dupC	ENSP00000425658:p.Lys1272fs					ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	p.I1272fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4850_4851	-			1272			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Frame_Shift_Ins	INS	ENST00000504087.1	37	c.3813_3814insG	CCDS34060.1																																																																																				0.391	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		12	615						12	615	---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155461206	155461207	+	Splice_Site	INS	-	-	AGA			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:155461206_155461207insAGA	ENST00000499023.2	-	11	1066		c.e11-1		PLRG1_ENST00000302078.5_Splice_Site|PLRG1_ENST00000393905.2_Splice_Site	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CATCCCAAATCTATAAAAACAC	0.342																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.e11-1		pleiotropic regulator 1																																				SO:0001630	splice_region_variant	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155461206_155461207insAGA	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.940-1->TCT	4.37:g.155461206_155461207insAGA						PLRG1_ENST00000393905.2_Splice_Site|PLRG1_ENST00000302078.5_Splice_Site		NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			11	1066	-	all_hematologic(180;0.215)	Renal(120;0.0854)						B3KMK4|Q3KQY5|Q8WUD8	Splice_Site	INS	ENST00000499023.2	37		CCDS34083.1																																																																																				0.342	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669	Intron	43	125						43	125	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:186515043_186515044insC	ENST00000284776.7	-	19	3639_3640	c.3130_3131insG	c.(3130-3132)gaafs	p.E1044fs	SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.E1144fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.E768fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.E610fs|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.E588fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.E605fs|SORBS2_ENST00000431808.1_Frame_Shift_Ins_p.E1044fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.E675fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.E948fs	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			4	Insertion - Frameshift(4)	p.E1044fs*8(2)|p.E605fs*8(2)	haematopoietic_and_lymphoid_tissue(4)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(3130-3132)accfs		sorbin and SH3 domain containing 2																																				SO:0001589	frameshift_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186515043_186515044insC		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3131dupG	4.37:g.186515050_186515050dupC	ENSP00000284776:p.Glu1044fs					SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs	p.T1044fs			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	20	3693_3694	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	1044			SH3 3.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Ins	INS	ENST00000284776.7	37	c.3130_3131insG	CCDS3845.1																																																																																				0.356	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	138						7	138	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(919-921)cctfs		tripartite motif family-like 2																																				SO:0001589	frameshift_variant	205860						ligase activity	g.chr4:189012770_189012771insG	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.921dupC	4.37:g.189012776_189012776dupG	ENSP00000422581:p.Pro307fs					TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	p.P307fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1294_1295	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	307			B30.2/SPRY.		B7Z6J6	Frame_Shift_Ins	INS	ENST00000512729.1	37	c.920_921insC	CCDS3850.1																																																																																				0.559	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		9	546						9	546	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)gggccafs	p.P325fs	FYB_ENST00000540520.1_Frame_Shift_Ins_p.P335fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.P325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.54																																						ENST00000351578.6																			4	Substitution - Missense(4)	p.P325A(3)|p.P335A(1)	kidney(4)	endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(970-975)ggcatgfs		FYN binding protein																																				SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202090_39202091insC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.973dupG	5.37:g.39202097_39202097dupC	ENSP00000316460:p.Pro325fs					FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs	p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	1162_1163	-	all_lung(31;0.000343)		325					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	c.972_973insG	CCDS47200.1																																																																																				0.540	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		8	154						8	154	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96	GRCh37	CD982526	C6	D		c.(826-831)gggctcfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs					C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			7	1092_1093	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			12	237						12	237	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																						ENST00000322348.4																			1	Insertion - Frameshift(1)	p.H294fs*2(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(880-882)taafs		glucosaminyl (N-acetyl) transferase 4, core 2																																				SO:0001589	frameshift_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324982_74324983insG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs						p.*294fs	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1741_1742	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	294						Frame_Shift_Ins	INS	ENST00000322348.4	37	c.880_881insC	CCDS4026.1																																																																																				0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		7	101						7	101	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984683	123984684	+	Frame_Shift_Ins	INS	-	-	C	rs565938874		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:123984683_123984684insC	ENST00000306315.5	-	4	1828_1829	c.1393_1394insG	c.(1393-1395)gccfs	p.A465fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.A38fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	465							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCTG	0.629																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1393-1395)caafs		zinc finger protein 608																																				SO:0001589	frameshift_variant	57507					intracellular	zinc ion binding	g.chr5:123984683_123984684insC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1394dupG	5.37:g.123984690_123984690dupC	ENSP00000307746:p.Ala465fs					ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.Q38fs	p.Q465fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1828_1829	-		all_cancers(142;0.186)|Prostate(80;0.081)	465					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Frame_Shift_Ins	INS	ENST00000306315.5	37	c.1393_1394insG	CCDS34219.1																																																																																				0.629	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		16	468						16	468	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)gggtttfs	p.F2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.F2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7657-7662)ggttacfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127610310_127610311insC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7660dupG	5.37:g.127610317_127610317dupC	ENSP00000424571:p.Phe2554fs					FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs	p.Y2554fs			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	66	8633_8634	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2554			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.7659_7660insG	CCDS34222.1																																																																																				0.421	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		14	340						14	340	---	---	---	---
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:133473764_133473765insC	ENST00000321584.4	+	4	652_653	c.456_457insC	c.(457-459)cccfs	p.P153fs	TCF7_ENST00000342854.5_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000395029.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.P38fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	153					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(454-459)caccccfs		transcription factor 7 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133473764_133473765insC	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.463dupC	5.37:g.133473771_133473771dupC	ENSP00000326540:p.Pro153fs					TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs	p.HP152fs			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	651_652	+		Breast(839;0.058)	152					B3KSH3|Q86WR9|Q9UKI4	Frame_Shift_Ins	INS	ENST00000321584.4	37	c.456_457insC																																																																																					0.574	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		12	101						12	101	---	---	---	---
EIF4EBP3	8637	broad.mit.edu	37	5	139931628	139931629	+	IGR	INS	-	-	GTC	rs5871740|rs3085220|rs368142622|rs202193903	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:139931628_139931629insGTC	ENST00000310331.2	+	0	691				SRA1_ENST00000336283.6_In_Frame_Ins_p.110_110V>GL|SRA1_ENST00000520427.1_5'UTR	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTCCATCACAGCCTCAGAC	0.589																																						ENST00000336283.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(328-330)gat>GACgat		steroid receptor RNA activator 1				1098,57,3109		127,26,818,0,31,1130						4.6	1.0		dbSNP_114	70	3373,320,4559		665,172,1871,4,140,1274	no	codingComplex	SRA1	NM_001035235.2		792,198,2689,4,171,2404	A1A1,A1A2,A1R,A2A2,A2R,RR		44.7528,27.0872,38.7344				4471,377,7668				SO:0001628	intergenic_variant	10011				apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity	g.chr5:139931628_139931629insGTC	AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139931628_139931629insGTC						SRA1_ENST00000520427.1_5'UTR	p.110_110D>DD	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1149_1150	-			110	V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).					In_Frame_Ins	INS	ENST00000310331.2	37	c.328_329insGAC	CCDS4226.1																																																																																				0.589	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2	NM_003732		37	266						37	266	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C	rs201111122		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)gccfs	p.A682fs	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB7_ENST00000398594.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGAG	0.515											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2044-2046)cccfs																																						SO:0001589	frameshift_variant	5098							g.chr5:140857727_140857728insC	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2050dupC	5.37:g.140857733_140857733dupC	ENSP00000312070:p.Ala682fs		OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.P682fs	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2148_2149	+								O60622|Q08192|Q9Y5C4	Frame_Shift_Ins	INS	ENST00000308177.3	37	c.2044_2045insC	CCDS4261.1																																																																																				0.515	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		7	260						7	260	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					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						TGCTGGATCCTCCCCCCAGCGA	0.579																																						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.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_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.chr5:141049341_141049342insC	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.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs					ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	p.D763fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		12	788						12	788	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					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						GGTCAGTGGGTGGGGGGCTCAC	0.564																																						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.(2227-2229)cccfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_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.chr5:141049509_141049510insG	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.2229dupC	5.37:g.141049515_141049515dupG	ENSP00000239440:p.Pro743fs					ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	p.P743fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			15	2293_2294	-			743					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2228_2229insC	CCDS4266.1																																																																																				0.564	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		9	1000						9	1000	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs						p.V224fs	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		12	315						12	315	---	---	---	---
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs369403370|rs144353509		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:141694153_141694154insG	ENST00000434127.2	-	2	763_764	c.520_521insC	c.(520-522)cggfs	p.R174fs	SPRY4_ENST00000344120.4_Frame_Shift_Ins_p.R197fs|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(589-591)gacfs		sprouty homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694153_141694154insG	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.521dupC	5.37:g.141694159_141694159dupG	ENSP00000399468:p.Arg174fs					SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	p.D197fs	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	775_776	-		all_hematologic(541;0.118)	174			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Frame_Shift_Ins	INS	ENST00000434127.2	37	c.589_590insC	CCDS47296.1																																																																																				0.609	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			7	472						7	472	---	---	---	---
RBM27	54439	broad.mit.edu	37	5	145613113	145613114	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:145613113_145613114insC	ENST00000265271.5	+	7	1117_1118	c.951_952insC	c.(952-954)cccfs	p.P318fs	RBM27_ENST00000506502.1_Frame_Shift_Ins_p.P318fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	318	Pro-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTTCCCACCCCCTCCTCC	0.55																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(949-954)ccccccfs		RNA binding motif protein 27																																				SO:0001589	frameshift_variant	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145613113_145613114insC	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.956dupC	5.37:g.145613118_145613118dupC	ENSP00000265271:p.Pro318fs					RBM27_ENST00000506502.1_Frame_Shift_Ins_p.PP317fs	p.PP317fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1117_1118	+			317			Pro-rich.		Q8IYW9	Frame_Shift_Ins	INS	ENST00000265271.5	37	c.951_952insC	CCDS43378.1																																																																																				0.550	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		7	876						7	876	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)ggcfs	p.G397fs	CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.G463fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.G400fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.G455fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.G403fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.5																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1189-1191)gaafs		protein phosphatase 2, regulatory subunit B, beta																																				SO:0001589	frameshift_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969651_145969652insC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1191dupG	5.37:g.145969657_145969657dupC	ENSP00000377935:p.Gly397fs					PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs	p.E397fs			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1760_1761	-			397					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Frame_Shift_Ins	INS	ENST00000394413.3	37	c.1190_1191insG	CCDS4284.1																																																																																				0.500	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	688						8	688	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(910-912)gggfs	p.G304fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.G304fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	304					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(907-912)ttggggfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581960_149581961insG	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.915dupG	5.37:g.149581966_149581966dupG	ENSP00000230671:p.Gly304fs					SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	p.LG303fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1280_1281	+		all_hematologic(541;0.224)	303					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.909_910insG	CCDS4305.1																																																																																				0.569	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		7	1174						7	1174	---	---	---	---
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C	rs200489390		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)ggtfs	p.G212fs	CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312349.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(634-636)gggfs		fibronectin type III domain containing 9																																				SO:0001589	frameshift_variant	408263					integral to membrane		g.chr5:156769909_156769910insC	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.636dupG	5.37:g.156769916_156769916dupC	ENSP00000310594:p.Gly212fs		OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron	p.G212fs	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN			2	822_823	-			212					A8K0Y6	Frame_Shift_Ins	INS	ENST00000312349.4	37	c.635_636insG	CCDS4337.1																																																																																				0.584	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		14	309						14	309	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804|rs199716249	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:156915296_156915297insG	ENST00000517905.1	-	21	2570_2571	c.2526_2527insC	c.(2524-2529)cccgcafs	p.A843fs	ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.A845fs|ADAM19_ENST00000257527.4_Frame_Shift_Ins_p.A843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.A576fs			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2524-2529)cccaccfs		ADAM metallopeptidase domain 19																																				SO:0001589	frameshift_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915296_156915297insG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2527dupC	5.37:g.156915302_156915302dupG	ENSP00000428654:p.Ala843fs					ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs|ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs	p.T843fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2604_2605	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	843					Q9BZL5|Q9UHP2	Frame_Shift_Ins	INS	ENST00000517905.1	37	c.2526_2527insC																																																																																					0.564	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		9	507						9	507	---	---	---	---
MAML1	9794	broad.mit.edu	37	5	179192486	179192487	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr5:179192486_179192487insC	ENST00000292599.3	+	2	738_739	c.475_476insC	c.(475-477)tccfs	p.S159fs	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTCCAGCCTCCCCCCTCGGT	0.594																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(475-477)cccfs		mastermind-like 1 (Drosophila)																																				SO:0001589	frameshift_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192486_179192487insC	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.481dupC	5.37:g.179192492_179192492dupC	ENSP00000292599:p.Ser159fs					MAML1_ENST00000503050.1_3'UTR	p.P159fs	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	738_739	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	159						Frame_Shift_Ins	INS	ENST00000292599.3	37	c.475_476insC	CCDS34315.1																																																																																				0.594	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		7	247						7	247	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(25-27)tgtfs		exocyst complex component 2																																				SO:0001589	frameshift_variant	55770				exocytosis|protein transport			g.chr6:637793_637794insG	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.26dupC	6.37:g.637800_637800dupG	ENSP00000230449:p.Leu9fs					EXOC2_ENST00000448181.3_Intron	p.C9fs	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	160_161	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	9			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Ins	INS	ENST00000230449.4	37	c.25_26insC	CCDS34327.1																																																																																				0.485	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		12	377						12	377	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC						GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron	p.PP251fs	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		11	225						11	225	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs					DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		23	852						23	852	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29577143	29577144	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:29577143_29577144insG	ENST00000377034.4	-	15	2056_2057	c.1721_1722insC	c.(1720-1722)ccafs	p.P574fs	GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.P457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.P512fs|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.P457fs|GABBR1_ENST00000376977.3_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	574					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCTGGTCAGCTGGGGGGGACCC	0.54																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1720-1722)cgcfs		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001589	frameshift_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29577143_29577144insG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1722dupC	6.37:g.29577150_29577150dupG	ENSP00000366233:p.Pro574fs					GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.R512fs	p.R574fs	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			15	2056_2057	-			574					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Frame_Shift_Ins	INS	ENST00000377034.4	37	c.1721_1722insC	CCDS4663.1																																																																																				0.540	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			7	188						7	188	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	3'UTR	INS	-	-	G	rs6933271	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:30867830_30867831insG	ENST00000324771.8	+	0	4047_4048				DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.W433fs|DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376568.3_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1						branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTACATTTTTGGGGGGAGAGA	0.441																																						ENST00000361741.4																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1297-1299)gggfs		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)																																			SO:0001624	3_prime_UTR_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30867830_30867831insG	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.*758->G	6.37:g.30867836_30867836dupG						DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_3'UTR	p.G433fs			Q08345	DDR1_HUMAN			12	1492_1493	+			0					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Frame_Shift_Ins	INS	ENST00000324771.8	37	c.1297_1298insG	CCDS34385.1																																																																																				0.441	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		11	444						11	444	---	---	---	---
DDX39B	7919	broad.mit.edu	37	6	31503220	31503221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:31503220_31503221insG	ENST00000396172.1	-	6	1288_1289	c.658_659insC	c.(658-660)cacfs	p.H220fs	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.H220fs|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000417556.2_Frame_Shift_Ins_p.H235fs|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.H142fs|DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.H220fs|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.H173fs	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	220	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTGCTTCTCGTGGGGGGTCATG	0.436																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(703-705)cgafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B																																				SO:0001589	frameshift_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31503220_31503221insG	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.659dupC	6.37:g.31503226_31503226dupG	ENSP00000379475:p.His220fs					DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.R142fs|DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.R220fs|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.R173fs|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.R220fs|DDX39B_ENST00000396172.1_Frame_Shift_Ins_p.R220fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR	p.R235fs			Q13838	DX39B_HUMAN			7	1333_1334	-			220			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Frame_Shift_Ins	INS	ENST00000396172.1	37	c.703_704insC	CCDS4697.1																																																																																				0.436	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		8	582						8	582	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:31608570_31608571insG	ENST00000375964.6	-	20	3155_3156	c.2842_2843insC	c.(2842-2844)cag>cCag	p.Q948fs	BAG6_ENST00000362049.6_Splice_Site_p.Q942fs|BAG6_ENST00000211379.5_Splice_Site_p.Q942fs|BAG6_ENST00000439687.2_Splice_Site_p.Q816fs|BAG6_ENST00000404765.2_Splice_Site_p.Q978fs|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000375976.4_Splice_Site_p.Q942fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.e21+1		BCL2-associated athanogene 6																																				SO:0001630	splice_region_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608570_31608571insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2844+1->C	6.37:g.31608577_31608577dupG						BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice	p.A978_splice			P46379	BAG6_HUMAN			21	3221_3222	-			948					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Splice_Site	INS	ENST00000375964.6	37	c.2934_splice	CCDS47403.1																																																																																				0.535	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	Frame_Shift_Ins	8	317						8	317	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered					C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			13	237						13	237	---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:32948228_32948229insC	ENST00000374825.4	+	12	3957_3958	c.2256_2257insC	c.(2257-2259)cccfs	p.P753fs	BRD2_ENST00000374831.4_Frame_Shift_Ins_p.P753fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.P706fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.P633fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000395289.2_Frame_Shift_Ins_p.P788fs	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	753					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(2359-2364)aaccccfs		bromodomain containing 2																																				SO:0001589	frameshift_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32948228_32948229insC	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2262dupC	6.37:g.32948234_32948234dupC	ENSP00000363958:p.Pro753fs					BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs	p.NP787fs			P25440	BRD2_HUMAN			13	3962_3963	+			752			ET.|Poly-Ser.|Ser-rich.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Frame_Shift_Ins	INS	ENST00000374825.4	37	c.2361_2362insC	CCDS4762.1																																																																																				0.426	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			7	292						7	292	---	---	---	---
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G	rs572254268	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:33178989_33178990insG	ENST00000374656.4	+	5	718_719	c.510_511insG	c.(511-513)gggfs	p.G171fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	171	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(508-513)agggggfs		ring finger protein 1																																				SO:0001589	frameshift_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33178989_33178990insG		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.517dupG	6.37:g.33178996_33178996dupG	ENSP00000363787:p.Gly171fs					RING1_ENST00000478431.1_3'UTR	p.RG170fs	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			5	718_719	+			170			Necessary for transcriptional repression (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Frame_Shift_Ins	INS	ENST00000374656.4	37	c.510_511insG	CCDS34424.1																																																																																				0.619	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			10	326						10	326	---	---	---	---
PHF1	5252	broad.mit.edu	37	6	33383636	33383637	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:33383636_33383637insC	ENST00000374516.3	+	15	1736_1737	c.1465_1466insC	c.(1465-1467)gccfs	p.A489fs	PHF1_ENST00000374512.3_Frame_Shift_Ins_p.P454fs|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	489					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)	p.A489V(1)|p.H491fs*3(1)		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)				CCCTAAAAGTGCCCCCCACTCG	0.53																																						ENST00000374516.3																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.A489V(1)|p.H491fs*3(1)	ovary(2)	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.(1465-1467)cccfs		PHD finger protein 1																																				SO:0001589	frameshift_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383636_33383637insC	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.1471dupC	6.37:g.33383642_33383642dupC	ENSP00000363640:p.Ala489fs					PHF1_ENST00000374512.3_Frame_Shift_Ins_p.VP453fs	p.P489fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			15	1736_1737	+		Ovarian(999;0.0443)	489					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Ins	INS	ENST00000374516.3	37	c.1465_1466insC	CCDS4777.1																																																																																				0.530	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			7	492						7	492	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33405504	33405505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:33405504_33405505insC	ENST00000418600.2	+	8	923_924	c.822_823insC	c.(823-825)cccfs	p.P275fs	SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.P275fs|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.P216fs|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	275	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCGGGAGCTGCCCCCCAAGAA	0.599																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(820-825)ctccccfs		synaptic Ras GTPase activating protein 1																																				SO:0001589	frameshift_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405504_33405505insC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.828dupC	6.37:g.33405510_33405510dupC	ENSP00000403636:p.Pro275fs					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs	p.LP274fs	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			8	923_924	+			274			C2.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Frame_Shift_Ins	INS	ENST00000418600.2	37	c.822_823insC	CCDS34434.2																																																																																				0.599	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		7	178						7	178	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs						p.P308fs	NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			61	962						61	962	---	---	---	---
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Intron	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:36068005_36068006insC	ENST00000229794.4	+	10	1150				MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229795.3_Frame_Shift_Ins_p.P242fs|MAPK14_ENST00000468133.1_Intron	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|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, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	ENST00000229795.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						c.(721-726)acccccfs		mitogen-activated protein kinase 14																																				SO:0001627	intron_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36068005_36068006insC	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.763-2342->C	6.37:g.36068011_36068011dupC						MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000310795.4_Intron	p.TP241fs	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN			9	1170_1171	+			241			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Frame_Shift_Ins	INS	ENST00000229794.4	37	c.723_724insC	CCDS4816.1																																																																																				0.426	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		13	387						13	387	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs					HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		12	406						12	406	---	---	---	---
MARCKS	4082	broad.mit.edu	37	6	114181729	114181730	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:114181729_114181730insC	ENST00000368635.4	+	2	1354_1355	c.973_974insC	c.(973-975)gccfs	p.A325fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	325					energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CAGTCCAGAAGCCCCCCCAGCG	0.644																																						ENST00000368635.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(973-975)cccfs		myristoylated alanine-rich protein kinase C substrate																																				SO:0001589	frameshift_variant	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181729_114181730insC	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.980dupC	6.37:g.114181736_114181736dupC	ENSP00000357624:p.Ala325fs						p.P325fs	NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	1354_1355	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	325					E1P560|Q2LA83|Q5TDB7	Frame_Shift_Ins	INS	ENST00000368635.4	37	c.973_974insC	CCDS5101.1																																																																																				0.644	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		7	44						7	44	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_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)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	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.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		16	348						16	348	---	---	---	---
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C	rs200339078		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1111-1113)cccfs	p.P371fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	371					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.49																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(1108-1113)aaccccfs		uronyl-2-sulfotransferase																																				SO:0001589	frameshift_variant	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149395141_149395142insC	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.1117dupC	6.37:g.149395148_149395148dupC	ENSP00000356433:p.Pro371fs					UST_ENST00000466695.1_3'UTR	p.NP370fs	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	8	1213_1214	+		Ovarian(120;0.0907)	370					B2RCX6	Frame_Shift_Ins	INS	ENST00000367463.4	37	c.1110_1111insC	CCDS5213.1																																																																																				0.490	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		10	175						10	175	---	---	---	---
IPCEF1	26034	broad.mit.edu	37	6	154481012	154481013	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:154481012_154481013insG	ENST00000265198.4	-	12	1419_1420	c.1264_1265insC	c.(1264-1266)cagfs	p.Q422fs	IPCEF1_ENST00000367220.4_Frame_Shift_Ins_p.Q423fs|IPCEF1_ENST00000519344.1_Frame_Shift_Ins_p.Q394fs|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Frame_Shift_Ins_p.Q423fs	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	422					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						CTTGAGTTCCTGGGGGGTGTCA	0.46																																						ENST00000265198.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						c.(1264-1266)ggafs		interaction protein for cytohesin exchange factors 1																																				SO:0001589	frameshift_variant	26034							g.chr6:154481012_154481013insG	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1265dupC	6.37:g.154481018_154481018dupG	ENSP00000265198:p.Gln422fs					IPCEF1_ENST00000519344.1_Frame_Shift_Ins_p.G394fs|IPCEF1_ENST00000367220.4_Frame_Shift_Ins_p.G423fs|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Frame_Shift_Ins_p.G423fs	p.G422fs	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1					12	1419_1420	-								A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Frame_Shift_Ins	INS	ENST00000265198.4	37	c.1264_1265insC	CCDS5245.1																																																																																				0.460	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		9	358						9	358	---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161560588	161560589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr6:161560588_161560589insG	ENST00000320285.4	-	8	1119_1120	c.907_908insC	c.(907-909)cggfs	p.R303fs	AGPAT4_ENST00000457520.2_Frame_Shift_Ins_p.R141fs|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	303					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCAGGGCCGCCGGGGGGGCACC	0.629																																						ENST00000320285.4																			3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R303fs*7(2)|p.R303fs*60(1)	large_intestine(2)|ovary(1)	endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(907-909)gcgfs		1-acylglycerol-3-phosphate O-acyltransferase 4																																				SO:0001589	frameshift_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161560588_161560589insG	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.908dupC	6.37:g.161560595_161560595dupG	ENSP00000314036:p.Arg303fs					AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Frame_Shift_Ins_p.A141fs	p.A303fs	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	8	1119_1120	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	303					B4DSF9|Q5TEF0	Frame_Shift_Ins	INS	ENST00000320285.4	37	c.907_908insC	CCDS5280.1																																																																																				0.629	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		8	165						8	165	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs					EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			8	139						8	139	---	---	---	---
DFNA5	1687	broad.mit.edu	37	7	24784270	24784271	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:24784270_24784271insC	ENST00000342947.3	-	3	739_740	c.314_315insG	c.(313-315)ggcfs	p.G105fs	DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.G105fs|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	105					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGCGGCTGCTGCCCCCCAGGTT	0.559																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(313-315)gagfs		deafness, autosomal dominant 5																																				SO:0001589	frameshift_variant	1687				sensory perception of sound			g.chr7:24784270_24784271insC	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.315dupG	7.37:g.24784276_24784276dupC	ENSP00000339587:p.Gly105fs					DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Frame_Shift_Ins_p.E105fs|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR	p.E105fs	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN			3	739_740	-			105					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Frame_Shift_Ins	INS	ENST00000342947.3	37	c.314_315insG	CCDS5389.1																																																																																				0.559	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		7	185						7	185	---	---	---	---
LINC00957	255031	broad.mit.edu	37	7	44080548	44080549	+	lincRNA	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:44080548_44080549insC	ENST00000441052.1	+	0	1233_1234				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		TGCGCCCCGCACCCCCCCGGAG	0.614																																						ENST00000441052.1																			0																																																			255031							g.chr7:44080548_44080549insC	BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44080555_44080555dupC														0	1233_1234	+									RNA	INS	ENST00000441052.1	37																																																																																						0.614	LINC00957-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339589.1			7	28						7	28	---	---	---	---
LIMK1	3984	broad.mit.edu	37	7	73535322	73535323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:73535322_73535323insC	ENST00000336180.2	+	15	1775_1776	c.1724_1725insC	c.(1723-1728)tgccccfs	p.CP575fs	LIMK1_ENST00000418310.1_Frame_Shift_Ins_p.CP605fs|LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.CP541fs	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	575	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CCCCCAAACTGCCCCCCGAGCT	0.653																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(1813-1815)tccfs		LIM domain kinase 1																																				SO:0001589	frameshift_variant	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73535322_73535323insC	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1730dupC	7.37:g.73535328_73535328dupC	ENSP00000336740:p.Cys575fs					LIMK1_ENST00000336180.2_Frame_Shift_Ins_p.S575fs|LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.S541fs	p.S605fs			P53667	LIMK1_HUMAN			15	1916_1917	+		Lung NSC(55;0.137)	575					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Frame_Shift_Ins	INS	ENST00000336180.2	37	c.1814_1815insC	CCDS5563.1																																																																																				0.653	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		7	152						7	152	---	---	---	---
PTPN12	5782	broad.mit.edu	37	7	77256343	77256343	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:77256343delT	ENST00000248594.6	+	13	1619	c.1347delT	c.(1345-1347)agtfs	p.S449fs	PTPN12_ENST00000415482.2_Frame_Shift_Del_p.S330fs|PTPN12_ENST00000435495.2_Frame_Shift_Del_p.S319fs	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	449					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GACCAAAAAGTTTTGATGGGA	0.338																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1345-1347)agfs		protein tyrosine phosphatase, non-receptor type 12							49.0	53.0	52.0					7																	77256343		2202	4299	6501	SO:0001589	frameshift_variant	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256343delT		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1347delT	7.37:g.77256343delT	ENSP00000248594:p.Ser449fs					PTPN12_ENST00000415482.2_Frame_Shift_Del_p.S330fs|PTPN12_ENST00000435495.2_Frame_Shift_Del_p.S319fs	p.S449fs	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	1619	+			449					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Frame_Shift_Del	DEL	ENST00000248594.6	37	c.1347delT	CCDS5592.1																																																																																				0.338	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			16	59						16	59	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11244)atggggfs	p.MG3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.MG3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.MG3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					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)			CTTGCCCGGATGGGGGGGCAGC	0.535			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.(11239-11241)aggfs		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.chr7:91732038_91732039insG	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.11247dupG	7.37:g.91732045_91732045dupG	ENSP00000351922:p.Met3747fs					AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs	p.R3747fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11465_11466	+	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)		3747					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.11240_11241insG																																																																																					0.535	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		14	331						14	331	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																						ENST00000223061.5																			2	Insertion - Frameshift(2)	p.M392fs*>59(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1165-1167)tccfs		procollagen C-endopeptidase enhancer																																				SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205413_100205414insC	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs						p.S389fs	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			8	1446_1447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		389			NTR.		B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	c.1166_1167insC	CCDS5700.1																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		9	211						9	211	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-360)atggggfs	p.MG119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(355-357)aggfs		adaptor-related protein complex 1, sigma 1 subunit																																				SO:0001589	frameshift_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802404_100802405insG	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.364dupG	7.37:g.100802412_100802412dupG	ENSP00000336666:p.Met119fs						p.R119fs	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN			4	474_475	+	Lung NSC(181;0.168)|all_lung(186;0.215)		119					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	ENST00000337619.5	37	c.356_357insG	CCDS47669.1																																																																																				0.564	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		10	85						10	85	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:100856125_100856126insC	ENST00000223127.3	-	8	1274_1275	c.876_877insG	c.(874-879)gggcagfs	p.Q293fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	293					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCACCTGCCCCCCCGGGA	0.673																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(874-879)ggagccfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)			29,4225		1,27,2099						4.0	1.0			29	20,8212		0,20,4096	no	frameshift	PLOD3	NM_001084.4		1,47,6195	A1A1,A1R,RR		0.243,0.6817,0.3924				49,12437				SO:0001589	frameshift_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100856125_100856126insC	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.877dupG	7.37:g.100856132_100856132dupC	ENSP00000223127:p.Gln293fs						p.A293fs	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			8	1274_1275	-	Lung NSC(181;0.168)|all_lung(186;0.215)		293					B2R6W6|Q540C3	Frame_Shift_Ins	INS	ENST00000223127.3	37	c.876_877insG	CCDS5715.1																																																																																				0.673	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			11	103						11	103	---	---	---	---
KCNH2	3757	broad.mit.edu	37	7	150656678	150656679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr7:150656678_150656679insG	ENST00000262186.5	-	3	854_855	c.453_454insC	c.(451-456)cccaccfs	p.T152fs	KCNH2_ENST00000430723.3_Frame_Shift_Ins_p.T152fs|KCNH2_ENST00000392968.2_Frame_Shift_Ins_p.T56fs	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	152					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.T152fs*180(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGCCAGCTGGTGGGGGGGCCCC	0.589																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			1	Insertion - Frameshift(1)	p.T152fs*180(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	GRCh37	CD001499|CI002553|CI056214	KCNH2	D|I		c.(163-168)ccccagfs		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150656678_150656679insG	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.454dupC	7.37:g.150656685_150656685dupG	ENSP00000262186:p.Thr152fs					KCNH2_ENST00000430723.3_Frame_Shift_Ins_p.Q152fs|KCNH2_ENST00000262186.5_Frame_Shift_Ins_p.Q152fs	p.Q56fs			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	1285_1286	-	all_neural(206;0.219)		152		R -> Q (in LQT2).	PAS.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Frame_Shift_Ins	INS	ENST00000262186.5	37	c.165_166insC	CCDS5910.1																																																																																				0.589	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		9	199						9	199	---	---	---	---
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G	rs539049307	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:20004787_20004788insG	ENST00000276373.5	-	15	1711_1712	c.1445_1446insC	c.(1444-1446)ccgfs	p.P482fs	SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.P450fs|SLC18A1_ENST00000440926.1_Frame_Shift_Ins_p.P482fs|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.P450fs	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	482					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CTTCCTTTGCCGGGGGGCTCCG	0.5																																						ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1444-1446)cgcfs		solute carrier family 18 (vesicular monoamine transporter), member 1			,,,	0,4264		0,0,2132					,,,	-1.9	1.0			62	4,8250		0,4,4123	no	frameshift,intron,frameshift,frameshift	SLC18A1	NM_003053.3,NM_001142325.1,NM_001142324.1,NM_001135691.2	,,,	0,4,6255	A1A1,A1R,RR		0.0485,0.0,0.032	,,,	,,,		4,12514				SO:0001589	frameshift_variant	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20004787_20004788insG		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1446dupC	8.37:g.20004793_20004793dupG	ENSP00000276373:p.Pro482fs					SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000437980.1_Intron	p.R482fs	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	16	1915_1916	-			482					E9PDJ5|Q9BRE4	Frame_Shift_Ins	INS	ENST00000276373.5	37	c.1445_1446insC	CCDS6013.1																																																																																				0.500	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			10	851						10	851	---	---	---	---
DMTN	2039	broad.mit.edu	37	8	21926551	21926552	+	Frame_Shift_Ins	INS	-	-	C	rs377647942		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:21926551_21926552insC	ENST00000523266.1	+	5	736_737	c.274_275insC	c.(274-276)tccfs	p.S92fs	DMTN_ENST00000358242.3_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000443491.2_Frame_Shift_Ins_p.S67fs|DMTN_ENST00000381470.3_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.S92fs|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.S67fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.S92fs	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	92					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										CAAATCCACATCCCCCCCACCA	0.604																																						ENST00000358242.3																			0											c.(274-276)cccfs		dematin actin binding protein																																				SO:0001589	frameshift_variant	2039							g.chr8:21926551_21926552insC	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.281dupC	8.37:g.21926558_21926558dupC	ENSP00000427866:p.Ser92fs					DMTN_ENST00000523266.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000443491.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000381470.3_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.P92fs	p.P92fs							5	767_768	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Frame_Shift_Ins	INS	ENST00000523266.1	37	c.274_275insC	CCDS6020.1																																																																																				0.604	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		7	74						7	74	---	---	---	---
EXTL3	2137	broad.mit.edu	37	8	28600719	28600720	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:28600719_28600720insC	ENST00000220562.4	+	6	3440_3441	c.2538_2539insC	c.(2539-2541)cccfs	p.P847fs	EXTL3_ENST00000523149.1_Frame_Shift_Ins_p.P463fs|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	847					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCACTCGGAAGCCCCCCATCAA	0.52																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(2536-2541)aaccccfs		exostosin-like glycosyltransferase 3																																				SO:0001589	frameshift_variant	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28600719_28600720insC	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2544dupC	8.37:g.28600725_28600725dupC	ENSP00000220562:p.Pro847fs					EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Frame_Shift_Ins_p.NP462fs	p.NP846fs	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	6	3440_3441	+		Ovarian(32;0.069)	846					D3DST8|O00225|Q53XT3	Frame_Shift_Ins	INS	ENST00000220562.4	37	c.2538_2539insC	CCDS6070.1																																																																																				0.520	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		7	836						7	836	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)gccfs	p.A13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	13					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GAGAGGCCTCGCCCCCCGAGAG	0.54																																						ENST00000331373.5																			0											c.(37-39)cccfs						3,4261		0,3,2129						-9.6	0.0			82	3,8251		0,3,4124	no	frameshift	SGK196	NM_032237.3		0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479				6,12512				SO:0001589	frameshift_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42958728_42958729insC		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.43dupC	8.37:g.42958734_42958734dupC	ENSP00000331258:p.Ala13fs						p.P13fs	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN			4	292_293	+			13						Frame_Shift_Ins	INS	ENST00000331373.5	37	c.37_38insC	CCDS6141.1																																																																																				0.540	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		7	178						7	178	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4654-4656)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68128855_68128856insG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs					ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	p.P1552fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		33	5044_5045	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1552					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	ENST00000262215.3	37	c.4655_4656insC	CCDS6199.1																																																																																				0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		9	114						9	114	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480397	73480397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr8:73480397delA	ENST00000523207.1	+	2	1016	c.428delA	c.(427-429)caafs	p.Q143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGATATCATCAAAAAAAAGAA	0.448																																						ENST00000523207.1																			1	Deletion - Frameshift(1)	p.E146fs*3(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(427-429)cafs		potassium voltage-gated channel, Shab-related subfamily, member 2							106.0	112.0	110.0					8																	73480397		2203	4300	6503	SO:0001589	frameshift_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480397delA	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.428delA	8.37:g.73480397delA	ENSP00000430846:p.Gln143fs						p.Q143fs	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1016	+	Breast(64;0.137)		143					Q7Z7D0|Q9BXD3	Frame_Shift_Del	DEL	ENST00000523207.1	37	c.428delA	CCDS6209.1																																																																																				0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		7	409						7	409	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604																																						ENST00000378617.3																			1	Insertion - Frameshift(1)	p.T788fs*5(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2359-2364)cccttcfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091522_35091523insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2362dupC	9.37:g.35091529_35091529dupG	ENSP00000367880:p.Thr788fs					PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs	p.F788fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2755_2756	-			788					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2361_2362insC	CCDS6575.1																																																																																				0.604	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		8	194						8	194	---	---	---	---
RNF38	152006	broad.mit.edu	37	9	36353239	36353240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:36353239_36353240insG	ENST00000259605.6	-	7	1105_1106	c.998_999insC	c.(997-999)ccafs	p.P333fs	RNF38_ENST00000377877.4_Frame_Shift_Ins_p.P257fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.P250fs|RNF38_ENST00000357058.3_Frame_Shift_Ins_p.P250fs|RNF38_ENST00000353739.4_Frame_Shift_Ins_p.P283fs|RNF38_ENST00000377885.2_Frame_Shift_Ins_p.P250fs	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	333	Pro-rich.				male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGGTAATGTTGGGGGGTGGGC	0.46																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(748-750)cacfs		ring finger protein 38																																				SO:0001589	frameshift_variant	152006						zinc ion binding	g.chr9:36353239_36353240insG		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.999dupC	9.37:g.36353245_36353245dupG	ENSP00000259605:p.Pro333fs					RNF38_ENST00000259605.6_Frame_Shift_Ins_p.H333fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.H257fs|RNF38_ENST00000353739.4_Frame_Shift_Ins_p.H283fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000377885.2_Frame_Shift_Ins_p.H250fs	p.H250fs	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	1355_1356	-			333			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Frame_Shift_Ins	INS	ENST00000259605.6	37	c.749_750insC	CCDS6603.1																																																																																				0.460	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		7	347						7	347	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:100082417_100082418insC	ENST00000357054.1	+	25	2573_2574	c.1638_1639insC	c.(1639-1641)cccfs	p.P547fs	CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.P507fs|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.P408fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.P405fs|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Frame_Shift_Ins_p.P408fs			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	547						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTGACCTCCTGCCCCCCAGTTA	0.505																																						ENST00000375202.2																			0											c.(1219-1224)ctccccfs		coiled-coil domain containing 180																																				SO:0001589	frameshift_variant	100499483							g.chr9:100082417_100082418insC	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1644dupC	9.37:g.100082423_100082423dupC	ENSP00000349562:p.Pro547fs					CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs	p.LP407fs							25	2573_2574	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Frame_Shift_Ins	INS	ENST00000357054.1	37	c.1221_1222insC																																																																																					0.505	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		12	372						12	372	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs						p.V592fs	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		13	240						13	240	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)gccfs	p.A1376fs	NUP214_ENST00000451030.1_Frame_Shift_Ins_p.A1377fs|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.A202fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.A1366fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(4126-4128)cccfs		nucleoporin 214kDa																																				SO:0001589	frameshift_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073007_134073008insC	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4133dupC	9.37:g.134073014_134073014dupC	ENSP00000352400:p.Ala1376fs					NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs	p.P1376fs			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4270_4271	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1376			11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Ins	INS	ENST00000359428.5	37	c.4126_4127insC	CCDS6940.1																																																																																				0.545	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		7	120						7	120	---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134504526	134504527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr9:134504526_134504527insG	ENST00000372189.3	-	7	927_928	c.804_805insC	c.(802-807)cccaagfs	p.K269fs	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Frame_Shift_Ins_p.K287fs|RAPGEF1_ENST00000372195.1_Frame_Shift_Ins_p.K286fs	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	269					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGAGGAGGCTTGGGGGGCGCGA	0.54																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(853-858)ccagccfs		Rap guanine nucleotide exchange factor (GEF) 1																																				SO:0001589	frameshift_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134504526_134504527insG	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.805dupC	9.37:g.134504532_134504532dupG	ENSP00000361263:p.Lys269fs					RAPGEF1_ENST00000372189.3_Frame_Shift_Ins_p.A269fs|RAPGEF1_ENST00000372190.3_Frame_Shift_Ins_p.A287fs|RAPGEF1_ENST00000481260.1_5'UTR	p.A286fs			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	7	1098_1099	-		Myeloproliferative disorder(178;0.204)	269					Q5JUE4|Q8IV73	Frame_Shift_Ins	INS	ENST00000372189.3	37	c.855_856insC	CCDS48047.1																																																																																				0.540	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		7	181						7	181	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:13325834_13325835insC	ENST00000263038.4	-	7	741_742	c.683_684insG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396920.3_Frame_Shift_Ins_p.G211fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25	GRCh37	CI040643	PHYH	I		c.(631-633)ggtfs		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13325834_13325835insC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.684dupG	10.37:g.13325840_13325840dupC	ENSP00000263038:p.Gly228fs					PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	p.G211fs			O14832	PAHX_HUMAN			7	1036_1037	-		Ovarian(717;0.0448)	228					A8MTS8|B1ALH5	Frame_Shift_Ins	INS	ENST00000263038.4	37	c.632_633insG	CCDS7097.1																																																																																				0.465	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			8	415						8	415	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)ccafs	p.P1005fs	FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.P990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.P1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(3013-3015)cagfs		FERM domain containing 4A																																				SO:0001589	frameshift_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13696451_13696452insG	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.3015dupC	10.37:g.13696458_13696458dupG	ENSP00000350032:p.Pro1005fs					FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs	p.Q1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			23	3382_3383	-			1005			Ser-rich.		A7E2Y3|Q5T377	Frame_Shift_Ins	INS	ENST00000357447.2	37	c.3014_3015insC	CCDS7101.1																																																																																				0.535	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		9	153						9	153	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs|ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1519-1524)gaggggfs		zinc finger E-box binding homeobox 1																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs					ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs	p.EG507fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	1912_1913	+		Prostate(175;0.0156)	523					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1521_1522insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		9	252						9	252	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50857606	50857607	+	Frame_Shift_Ins	INS	-	-	C	rs3793795		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:50857606_50857607insC	ENST00000337653.2	+	10	1588_1589	c.1435_1436insC	c.(1435-1437)gccfs	p.A479fs	CHAT_ENST00000395559.2_Frame_Shift_Ins_p.A361fs|CHAT_ENST00000351556.3_Frame_Shift_Ins_p.A361fs|CHAT_ENST00000339797.1_Frame_Shift_Ins_p.A361fs|CHAT_ENST00000455728.2_Frame_Shift_Ins_p.A361fs|CHAT_ENST00000395562.2_Frame_Shift_Ins_p.A397fs	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	479					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CGAGCTCCCCGCCCCCCGGAGG	0.609																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1189-1191)cccfs		choline O-acetyltransferase	Choline(DB00122)																																			SO:0001589	frameshift_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50857606_50857607insC	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1441dupC	10.37:g.50857612_50857612dupC	ENSP00000337103:p.Ala479fs					CHAT_ENST00000455728.2_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000337653.2_Frame_Shift_Ins_p.P479fs|CHAT_ENST00000395559.2_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000339797.1_Frame_Shift_Ins_p.P361fs|CHAT_ENST00000351556.3_Frame_Shift_Ins_p.P361fs	p.P397fs	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	11	1658_1659	+		all_neural(218;0.107)	479					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Frame_Shift_Ins	INS	ENST00000337653.2	37	c.1189_1190insC	CCDS7232.1																																																																																				0.609	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		7	174						7	174	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					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)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC						SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	18	507						18	507	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:75560463_75560464insC	ENST00000605216.1	+	24	5294_5295	c.5077_5078insC	c.(5077-5079)tccfs	p.S1693fs	ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.S1511fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.S1652fs|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.S1698fs|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.S1690fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										CTTCTCCCGCTCCCCCCCCTAC	0.604																																						ENST00000604729.1																			0											c.(5068-5070)cccfs		zinc finger, SWIM-type containing 8			,,	27,3721		0,27,1847					,,	4.9	1.0			133	23,7871		0,23,3924	no	frameshift,frameshift,frameshift	KIAA0913	NM_015037.3,NM_001242488.1,NM_001242487.1	,,	0,50,5771	A1A1,A1R,RR		0.2914,0.7204,0.4295	,,	,,		50,11592				SO:0001589	frameshift_variant	23053							g.chr10:75560463_75560464insC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5085dupC	10.37:g.75560471_75560471dupC	ENSP00000474748:p.Ser1693fs					ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs	p.P1690fs							24	5365_5366	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	ENST00000605216.1	37	c.5068_5069insC																																																																																					0.604	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		7	68						7	68	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(946-951)ccaagafs		carboxypeptidase N, polypeptide 1																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs						p.R317fs	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1199_1200	-		Colorectal(252;0.234)	317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		19	569						19	569	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102509528	102509529	+	Frame_Shift_Ins	INS	-	-	G	rs75462234|rs77453353		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:102509528_102509529insG	ENST00000428433.1	+	2	619_620	c.69_70insG	c.(70-72)gggfs	p.G24fs	PAX2_ENST00000361791.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.G23fs|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000370296.2_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000553492.1_Intron	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	24	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		G -> E (probable disease-associated mutation found in a patient with renal hypodysplasia). {ECO:0000269|PubMed:21380624}.		aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGTT	0.663																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(67-72)ctggggfs		paired box 2																																				SO:0001589	frameshift_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509528_102509529insG		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.76dupG	10.37:g.102509535_102509535dupG	ENSP00000396259:p.Gly24fs					PAX2_ENST00000355243.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000428433.1_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.LG22fs	p.LG23fs			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	619_620	+		Colorectal(252;0.234)	23			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Ins	INS	ENST00000428433.1	37	c.69_70insG	CCDS53569.1																																																																																				0.663	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				8	63						8	63	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104175780	104175781	+	Frame_Shift_Ins	INS	-	-	G	rs561554640		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:104175780_104175781insG	ENST00000020673.5	-	3	1276_1277	c.750_751insC	c.(748-753)cccagcfs	p.S251fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.S251fs|PSD_ENST00000492902.2_5'Flank	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	251					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TTACCTGAGCTGGGGGGGTCCA	0.604																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(748-753)ccgctcfs		pleckstrin and Sec7 domain containing																																				SO:0001589	frameshift_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104175780_104175781insG	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.751dupC	10.37:g.104175787_104175787dupG	ENSP00000020673:p.Ser251fs					PSD_ENST00000406432.1_Frame_Shift_Ins_p.L251fs	p.L251fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	3	1276_1277	-			251					B1AKX7|D3DR87|Q15673|Q8IVG0	Frame_Shift_Ins	INS	ENST00000020673.5	37	c.750_751insC	CCDS31272.1																																																																																				0.604	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			2	4						2	4	---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(589-591)cccfs	p.P197fs	RNU6-1121P_ENST00000516802.1_RNA	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	197					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(586-591)gtccccfs		TruB pseudouridine (psi) synthase family member 1																																				SO:0001589	frameshift_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116730191_116730192insC	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.595dupC	10.37:g.116730198_116730198dupC	ENSP00000298746:p.Pro197fs						p.VP196fs	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	5	649_650	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	196					B2R716|Q53ES2	Frame_Shift_Ins	INS	ENST00000298746.3	37	c.588_589insC	CCDS7591.1																																																																																				0.317	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		7	146						7	146	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758618	5758619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:5758618_5758619insC	ENST00000317121.3	+	1	938_939	c.872_873insC	c.(871-876)atccccfs	p.IP291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CACAACATCATCCCCCCTTCCC	0.406																																						ENST00000317121.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(871-873)accfs		olfactory receptor, family 56, subfamily B, member 1																																				SO:0001589	frameshift_variant	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758618_5758619insC	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.878dupC	11.37:g.5758624_5758624dupC	ENSP00000322939:p.Ile291fs					TRIM5_ENST00000380027.1_Intron	p.T291fs	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	938_939	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	291					B2RNY6|B3KV42|Q6IF76	Frame_Shift_Ins	INS	ENST00000317121.3	37	c.872_873insC	CCDS31395.1																																																																																				0.406	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		8	1246						8	1246	---	---	---	---
STK33	65975	broad.mit.edu	37	11	8414087	8414088	+	In_Frame_Ins	INS	-	-	CCAGAA			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:8414087_8414088insCCAGAA	ENST00000447869.1	-	12	2432_2433	c.1514_1515insTTCTGG	c.(1513-1515)ggc>ggTTCTGGc	p.505_505G>GSG	STK33_ENST00000358872.3_In_Frame_Ins_p.318_318G>GSG|STK33_ENST00000315204.1_In_Frame_Ins_p.505_505G>GSG|STK33_ENST00000534493.1_In_Frame_Ins_p.464_464G>GSG|STK33_ENST00000396673.1_In_Frame_Ins_p.439_439G>GSG|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_In_Frame_Ins_p.505_505G>GSG			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	505					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGGACAGGGCGCCGGATTTAGC	0.48																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(1513-1515)ggc>gTTCTGGgc		serine/threonine kinase 33				26,4238		0,26,2106						-0.2	0.0			208	143,8111		0,143,3984	no	coding	STK33	NM_030906.2		0,169,6090	A1A1,A1R,RR		1.7325,0.6098,1.3501				169,12349				SO:0001652	inframe_insertion	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8414087_8414088insCCAGAA	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1514_1515insTTCTGG	11.37:g.8414087_8414088insCCAGAA	ENSP00000416750:p.SerGly505dup					STK33_ENST00000396673.1_In_Frame_Ins_p.438_439insVL|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_In_Frame_Ins_p.504_505insVL|STK33_ENST00000534493.1_In_Frame_Ins_p.463_464insVL|STK33_ENST00000358872.3_In_Frame_Ins_p.317_318insVL|STK33_ENST00000315204.1_In_Frame_Ins_p.504_505insVL	p.504_505insVL			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	12	2432_2433	-			504					Q658S6|Q8NEF5	In_Frame_Ins	INS	ENST00000447869.1	37	c.1514_1515insTTCTGG	CCDS7789.1																																																																																				0.480	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		23	392						23	392	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1038)agccccfs	p.SP345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.SP292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1033-1035)accfs		zinc finger, DHHC-type containing 5																																				SO:0001589	frameshift_variant	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57464257_57464258insC	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1040dupC	11.37:g.57464263_57464263dupC	ENSP00000287169:p.Ser345fs					ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	p.T345fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			10	2396_2397	+			345					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Frame_Shift_Ins	INS	ENST00000287169.3	37	c.1034_1035insC	CCDS7965.1																																																																																				0.515	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		35	1660						35	1660	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs					TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	p.NP128fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		12	583						12	583	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-2	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa				2,4260		0,2,2129						4.8	1.0			84	5,8245		0,5,4120	no	splice-3	DDB1	NM_001923.3		0,7,6249	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12505				SO:0001630	splice_region_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094367_61094368insG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.550-2->C	11.37:g.61094374_61094374dupG						DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site		NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			5	947	-								A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	INS	ENST00000301764.7	37		CCDS31576.1																																																																																				0.515	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	Intron	8	264						8	264	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000278893.7_Intron|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12	GRCh37	CI033285	BSCL2	I		c.(973-975)gatfs		Berardinelli-Seip congenital lipodystrophy 2 (seipin)			,,	12,4252		0,12,2120					,,	3.3	0.9			68	10,8244		0,10,4117	no	frameshift,intron,frameshift	BSCL2	NM_032667.6,NM_001130702.2,NM_001122955.3	,,	0,22,6237	A1A1,A1R,RR		0.1212,0.2814,0.1757	,,	,,		22,12496				SO:0001589	frameshift_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458782_62458783insC		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.783dupG	11.37:g.62458789_62458789dupC	ENSP00000385561:p.Gly261fs					RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs	p.D325fs			Q96G97	BSCL2_HUMAN			8	1530_1531	-			261					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Frame_Shift_Ins	INS	ENST00000403550.1	37	c.974_975insG	CCDS8031.1																																																																																				0.559	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		14	215						14	215	---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:66055104_66055105insG	ENST00000376901.4	-	4	575_576	c.391_392insC	c.(391-393)cggfs	p.R131fs	YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.R131fs|YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000526497.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)		p.R131L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAGA	0.624																																						ENST00000376901.4																			1	Substitution - Missense(1)	p.R131L(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(391-393)gcafs		Yip1 interacting factor homolog A (S. cerevisiae)				18,4246		0,18,2114						4.8	1.0			29	10,8242		0,10,4116	no	frameshift	YIF1A	NM_020470.2		0,28,6230	A1A1,A1R,RR		0.1212,0.4221,0.2237				28,12488				SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055104_66055105insG	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.392dupC	11.37:g.66055111_66055111dupG	ENSP00000366098:p.Arg131fs					YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.A131fs|YIF1A_ENST00000471387.2_5'UTR	p.A131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			4	575_576	-			131					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Ins	INS	ENST00000376901.4	37	c.391_392insC	CCDS8132.1																																																																																				0.624	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		7	63						7	63	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs					DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs	p.AP669fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			17	2408_2409	+			650					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	ENST00000360510.2	37	c.2007_2008insC	CCDS8141.1																																																																																				0.579	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			9	165						9	165	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-282)ctggggfs	p.LG93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.LG74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(277-279)cggfs		copper chaperone for superoxide dismutase																																				SO:0001589	frameshift_variant	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66366957_66366958insG	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.285dupG	11.37:g.66366964_66366964dupG	ENSP00000436318:p.Leu93fs					CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	p.R93fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			4	719_720	+			93			Superoxide dismutase-like.		Q2M366|Q8NEV0	Frame_Shift_Ins	INS	ENST00000533244.1	37	c.278_279insG	CCDS8146.1																																																																																				0.644	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		7	79						7	79	---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67196695	67196696	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:67196695_67196696insG	ENST00000312629.5	+	3	269_270	c.224_225insG	c.(223-228)aaggggfs	p.KG75fs	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Frame_Shift_Ins_p.KG75fs|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGCTGGGCAAGGGGGGCTATG	0.599																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(223-225)aggfs		ribosomal protein S6 kinase, 70kDa, polypeptide 2																																				SO:0001589	frameshift_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67196695_67196696insG	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.230dupG	11.37:g.67196701_67196701dupG	ENSP00000308413:p.Lys75fs					RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Frame_Shift_Ins_p.R75fs	p.R75fs	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		3	269_270	+			75			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Frame_Shift_Ins	INS	ENST00000312629.5	37	c.224_225insG	CCDS41677.1																																																																																				0.599	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		7	993						7	993	---	---	---	---
COA4	51287	broad.mit.edu	37	11	73584444	73584447	+	Intron	DEL	AGAA	AGAA	-	rs200767166		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:73584444_73584447delAGAA	ENST00000355693.4	-	2	232				COA4_ENST00000541455.1_Frame_Shift_Del_p.FY2fs|COA4_ENST00000537581.1_5'Flank|COA4_ENST00000537289.1_Intron|COA4_ENST00000545127.1_Intron	NM_016565.2	NP_057649.2	Q9NYJ1	COA4_HUMAN	cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)							mitochondrion (GO:0005739)											GGGAGTCTATAGAACATTAACAGG	0.471																																						ENST00000541455.1																			0											c.(4-9)atfs		cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)																																				SO:0001627	intron_variant	51287							g.chr11:73584444_73584447delAGAA	AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Mitochondrial respiratory chain complex assembly factors"""	24604	protein-coding gene	gene with protein product		608016	"""coiled-coil-helix-coiled-coil-helix domain containing 8"""	CHCHD8		11085516, 20624914	Standard	NM_016565		Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000355693.4:c.16-5TTCT>-	11.37:g.73584444_73584447delAGAA						COA4_ENST00000537289.1_Intron|COA4_ENST00000545127.1_Intron|COA4_ENST00000355693.4_Intron	p.FY2fs							2	397_400	-								B2RAA0|Q69YU4	Frame_Shift_Del	DEL	ENST00000355693.4	37	c.4_7delTTCT	CCDS8225.1																																																																																				0.471	COA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397878.1	NM_016565		32	89						32	89	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000264018.4_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	39	368						39	368	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cctfs	p.P200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.P200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(598-600)cggfs		coiled-coil domain containing 153				6,4256		0,6,2125						3.6	1.0			88	8,8244		0,8,4118	no	frameshift	CCDC153	NM_001145018.1		0,14,6243	A1A1,A1R,RR		0.0969,0.1408,0.1119				14,12500				SO:0001589	frameshift_variant	283152							g.chr11:119061042_119061043insG		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.600dupC	11.37:g.119061049_119061049dupG	ENSP00000423567:p.Pro200fs					CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs	p.R200fs			Q494R4	CC153_HUMAN			6	598_599	-			200						Frame_Shift_Ins	INS	ENST00000503566.2	37	c.599_600insC	CCDS44753.1																																																																																				0.569	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		7	208						7	208	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs						p.P23fs	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		7	374						7	374	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525																																						ENST00000534548.2																			1	Insertion - Frameshift(1)	p.Q909fs*12(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2725-2727)ggtfs		non-SMC condensin II complex, subunit D3																																				SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048585_134048586insG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2726dupC	11.37:g.134048592_134048592dupG	ENSP00000433681:p.Gln909fs						p.G909fs	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	22	2789_2790	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	909					A6NFS2|Q4KMQ9	Frame_Shift_Ins	INS	ENST00000534548.2	37	c.2725_2726insC	CCDS31723.1																																																																																				0.525	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		10	142						10	142	---	---	---	---
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)cccaaafs	p.K42fs	NCAPD2_ENST00000315579.5_5'Flank|NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.51																																						ENST00000229238.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(121-126)ccaagtfs		mitochondrial ribosomal protein L51																																				SO:0001589	frameshift_variant	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6602094_6602095insG	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.124dupC	12.37:g.6602100_6602100dupG	ENSP00000229238:p.Lys42fs					MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron	p.S42fs	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN			2	584_585	-			42					Q96Q57|Q9BQ36|Q9P0N7	Frame_Shift_Ins	INS	ENST00000229238.3	37	c.123_124insC	CCDS8547.1																																																																																				0.510	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		7	477						7	477	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs					CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		17	386						17	386	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs					HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			13	615						13	615	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs						p.H34fs	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	113						9	113	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cctfs	p.P520fs		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.55																																						ENST00000261167.2																			1	Insertion - Frameshift(1)	p.G521fs*28(1)	large_intestine(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(1558-1560)cggfs		WW domain binding protein 11																																				SO:0001589	frameshift_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14940365_14940366insG	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1560dupC	12.37:g.14940372_14940372dupG	ENSP00000261167:p.Pro520fs					WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs	p.R520fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			12	1792_1793	-			520			Pro-rich.		Q96AY8	Frame_Shift_Ins	INS	ENST00000261167.2	37	c.1559_1560insC	CCDS8666.1																																																																																				0.550	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		19	229						19	229	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1191)gtggggfs	p.VG396fs	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	396					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ATCTACATCGTGGGGGGGTGTC	0.594																																						ENST00000381271.2																			0											c.(1186-1188)gggfs		kelch-like family member 42																																				SO:0001589	frameshift_variant	57542							g.chr12:27950768_27950769insG	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1194dupG	12.37:g.27950775_27950775dupG	ENSP00000370671:p.Val396fs						p.G396fs	NM_020782.1	NP_065833.1					3	1498_1499	+								Q2VPK1|Q8N334	Frame_Shift_Ins	INS	ENST00000381271.2	37	c.1187_1188insG	CCDS31763.1																																																																																				0.594	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		31	462						31	462	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269805	31269806	+	RNA	INS	-	-	AAG	rs67001718|rs10650892|rs59759240	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:31269805_31269806insAAG	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAATATTCCTCAAACTTCTCTT	0.307														3185	0.635982	0.7133	0.6095	5008	,	,		11539	0.8284		0.4274	False		,,,				2504	0.5665					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														144203							g.chr12:31269805_31269806insAAG																													12.37:g.31269805_31269806insAAG														0	52	-									RNA	INS	ENST00000542490.1	37																																																																																						0.307	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			4	3						4	3	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54914555	54914556	+	Frame_Shift_Ins	INS	-	-	C	rs148042893		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:54914555_54914556insC	ENST00000293373.6	+	17	1782_1783	c.1703_1704insC	c.(1702-1707)ttccccfs	p.FP568fs	NCKAP1L_ENST00000545638.2_Frame_Shift_Ins_p.FP518fs	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	568					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCATTGCTTTCCCCCTGATTT	0.47																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1702-1704)tccfs		NCK-associated protein 1-like																																				SO:0001589	frameshift_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54914555_54914556insC	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1708dupC	12.37:g.54914560_54914560dupC	ENSP00000293373:p.Phe568fs					NCKAP1L_ENST00000545638.2_Frame_Shift_Ins_p.S518fs	p.S568fs	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			17	1782_1783	+			568					B4DUT5|Q52LW0	Frame_Shift_Ins	INS	ENST00000293373.6	37	c.1703_1704insC	CCDS31813.1																																																																																				0.470	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		9	1490						9	1490	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)cggfs	p.R579fs	IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.R579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.R477fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.R534fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1735-1737)gggfs		IKAROS family zinc finger 4 (Eos)																																				SO:0001589	frameshift_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429092_56429093insG	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1741dupG	12.37:g.56429098_56429098dupG	ENSP00000262032:p.Arg579fs					RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs	p.G579fs			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2102_2103	+			579					Q96JP3	Frame_Shift_Ins	INS	ENST00000262032.5	37	c.1735_1736insG	CCDS44917.1																																																																																				0.554	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		8	555						8	555	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs					STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs	p.G490fs			P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		20	213						20	213	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs					GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	p.G272fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		46	822						46	822	---	---	---	---
SLC26A10	65012	broad.mit.edu	37	12	58014153	58014154	+	Frame_Shift_Ins	INS	-	-	C	rs143040192		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:58014153_58014154insC	ENST00000320442.4	+	1	461_462	c.150_151insC	c.(151-153)cccfs	p.P51fs	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|SLC26A10_ENST00000379218.2_Frame_Shift_Ins_p.P51fs	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	51						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TGGCCTCCGTGCCCCCGGTGTT	0.564																																						ENST00000379218.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(148-153)gtccccfs		solute carrier family 26, member 10																																				SO:0001589	frameshift_variant	65012					integral to membrane	antiporter activity	g.chr12:58014153_58014154insC		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.155dupC	12.37:g.58014158_58014158dupC	ENSP00000320217:p.Pro51fs					SLC26A10_ENST00000320442.4_Frame_Shift_Ins_p.VP50fs	p.VP50fs			Q8NG04	S2610_HUMAN			1	461_462	+	Melanoma(17;0.122)		50					A6NMJ2|B6ZDQ3|Q6ZWI7	Frame_Shift_Ins	INS	ENST00000320442.4	37	c.150_151insC	CCDS8949.2																																																																																				0.564	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			7	2393						7	2393	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000517852.1_Intron|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs					MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs	p.NP318fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1256_1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		312			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		12	268						12	268	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)cccaggfs	p.R445fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.R339fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.R232fs	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	445					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1330-1335)ccgggcfs		bestrophin 3																																				SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049361_70049362insG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1333dupC	12.37:g.70049368_70049368dupG	ENSP00000332413:p.Arg445fs					BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron	p.PG444fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1558_1559	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		444					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Ins	INS	ENST00000330891.5	37	c.1332_1333insC	CCDS8992.2																																																																																				0.594	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		9	213						9	213	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(328-330)cccfs	p.P110fs	RNA5SP372_ENST00000390836.1_RNA|USP30_ENST00000392784.2_Frame_Shift_Ins_p.P79fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	110	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(325-330)gaccccfs		ubiquitin specific peptidase 30																																				SO:0001589	frameshift_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109495864_109495865insC	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.333dupC	12.37:g.109495870_109495870dupC	ENSP00000257548:p.Pro110fs					USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	p.DP109fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			3	420_421	+			109					Q8WTU7|Q96JX4|Q9BSS3	Frame_Shift_Ins	INS	ENST00000257548.5	37	c.327_328insC	CCDS9123.2																																																																																				0.485	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		8	1078						8	1078	---	---	---	---
OAS3	4940	broad.mit.edu	37	12	113388496	113388497	+	Splice_Site	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:113388496_113388497insG	ENST00000228928.7	+	7	1553		c.e7-1		RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa						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)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TTCCCTCCACAGGGGGGCTCAT	0.594																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.e7-1		2'-5'-oligoadenylate synthetase 3, 100kDa																																				SO:0001630	splice_region_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113388496_113388497insG	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1375-1->G	12.37:g.113388502_113388502dupG						RP1-71H24.1_ENST00000552784.1_RNA		NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			7	1553	+								Q2HJ14|Q9H3P5	Splice_Site	INS	ENST00000228928.7	37		CCDS44981.1																																																																																				0.594	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1		Intron	9	1464						9	1464	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs						p.V116fs	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		20	286						20	286	---	---	---	---
CCDC92	80212	broad.mit.edu	37	12	124422018	124422019	+	Frame_Shift_Ins	INS	-	-	G	rs267603367		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:124422018_124422019insG	ENST00000238156.3	-	5	936_937	c.582_583insC	c.(580-585)cccaaafs	p.K195fs	DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000545135.1_Frame_Shift_Ins_p.K178fs|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Frame_Shift_Ins_p.K178fs	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	195						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		AGCTTGTCTTTGGGGGGCGCTG	0.624																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(529-534)ccaagafs		coiled-coil domain containing 92				0,4264		0,0,2132						5.4	1.0			41	5,8249		0,5,4122	no	frameshift	CCDC92	NM_025140.1		0,5,6254	A1A1,A1R,RR		0.0606,0.0,0.0399				5,12513				SO:0001589	frameshift_variant	80212							g.chr12:124422018_124422019insG	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.583dupC	12.37:g.124422024_124422024dupG	ENSP00000238156:p.Lys195fs					CCDC92_ENST00000238156.3_Frame_Shift_Ins_p.R195fs|CCDC92_ENST00000545891.1_Frame_Shift_Ins_p.R178fs|CCDC92_ENST00000544798.1_Intron	p.R178fs			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	3827_3828	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		195					B3KNQ0|Q9H697	Frame_Shift_Ins	INS	ENST00000238156.3	37	c.531_532insC	CCDS9256.1																																																																																				0.624	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		8	366						8	366	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1660-1662)cccfs	p.P554fs	EP400_ENST00000389561.2_Frame_Shift_Ins_p.P518fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.P518fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.P517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.P481fs			Q96L91	EP400_HUMAN	E1A binding protein p400	554					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1657-1662)atccccfs		E1A binding protein p400																																				SO:0001589	frameshift_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466645_132466646insC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1665dupC	12.37:g.132466651_132466651dupC	ENSP00000333602:p.Pro554fs					EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs	p.IP553fs			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1768_1769	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	553					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Frame_Shift_Ins	INS	ENST00000333577.4	37	c.1659_1660insC																																																																																					0.589	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	506						7	506	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3241-3243)ggtfs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852646_20852647insC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3243dupG	14.37:g.20852653_20852653dupC	ENSP00000262715:p.Gly1081fs					TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	p.G1081fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3282_3283	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	c.3242_3243insG	CCDS9548.1																																																																																				0.584	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		15	249						15	249	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)cccaagfs	p.K1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.48																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(3124-3129)ccagaafs		suppressor of Ty 16 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820849_21820850insG	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3127dupC	14.37:g.21820855_21820855dupG	ENSP00000216297:p.Lys1043fs						p.E1043fs	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3464_3465	-	all_cancers(95;0.00115)		1043					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Ins	INS	ENST00000216297.2	37	c.3126_3127insC	CCDS9569.1																																																																																				0.480	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			8	357						8	357	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)ccafs	p.P25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.48																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(73-75)caafs		olfactory receptor, family 10, subfamily G, member 2																																				SO:0001589	frameshift_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102924_22102925insG		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.75dupC	14.37:g.22102930_22102930dupG	ENSP00000445383:p.Pro25fs						p.Q25fs	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	171_172	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	25					B2RPD0	Frame_Shift_Ins	INS	ENST00000542433.1	37	c.74_75insC	CCDS32047.1																																																																																				0.480	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			7	221						7	221	---	---	---	---
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C	rs570668890	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139									T cell receptor alpha variable 3 (gene/pseudogene)																		GCTGGAAAGGACCCCCCCAATC	0.574																																						ENST00000390425.2																			0																																																			28690							g.chr14:22192097_22192098insC	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192104_22192104dupC														0	138_139	+									RNA	INS	ENST00000390425.2	37																																																																																						0.574	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		14	222						14	222	---	---	---	---
RBM23	55147	broad.mit.edu	37	14	23371029	23371030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:23371029_23371030insG	ENST00000359890.3	-	13	1504_1505	c.1309_1310insC	c.(1309-1311)cagfs	p.Q437fs	RBM23_ENST00000542016.2_Frame_Shift_Ins_p.Q267fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.Q421fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.Q403fs|RBM23_ENST00000555209.1_Frame_Shift_Ins_p.Q187fs	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	437					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCACATGGTCTGGGGGGTAAAG	0.505																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.(1309-1311)gacfs		RNA binding motif protein 23																																				SO:0001589	frameshift_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23371029_23371030insG	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1310dupC	14.37:g.23371035_23371035dupG	ENSP00000352956:p.Gln437fs					RBM23_ENST00000346528.5_Frame_Shift_Ins_p.D403fs|RBM23_ENST00000555209.1_Frame_Shift_Ins_p.D187fs|RBM23_ENST00000542016.2_Frame_Shift_Ins_p.D267fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.D421fs	p.D437fs	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	13	1504_1505	-	all_cancers(95;4.69e-05)		437					D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Frame_Shift_Ins	INS	ENST00000359890.3	37	c.1309_1310insC	CCDS41921.1																																																																																				0.505	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			8	694						8	694	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G	rs386775580		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)gctfs	p.A447fs	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.A447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.A407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.A389fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719). {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18220336, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:9734811, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		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)		GAATGAGGACAGCGGGGGCTGG	0.5																																						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.(1339-1341)ggtfs		apoptotic chromatin condensation inducer 1																																				SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549377_23549378insG	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.1341dupC	14.37:g.23549378_23549378dupG	ENSP00000262710:p.Ala447fs					ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs	p.G447fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1667_1668	-	all_cancers(95;1.36e-05)		447		A -> P (in dbSNP:rs941719).			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Ins	INS	ENST00000262710.1	37	c.1340_1341insC	CCDS9587.1																																																																																				0.500	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		8	235						8	235	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24532702	24532703	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:24532702_24532703insC	ENST00000342740.5	+	31	3093_3094	c.2939_2940insC	c.(2938-2943)cgccccfs	p.RP980fs	LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.RP76fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	980						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGAGGCCCCGCCCCCCCAGGA	0.594																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2938-2940)cccfs		leucine rich repeat containing 16B																																				SO:0001589	frameshift_variant	90668							g.chr14:24532702_24532703insC	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2946dupC	14.37:g.24532709_24532709dupC	ENSP00000340467:p.Arg980fs					LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P76fs	p.P980fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	31	3093_3094	+			980					Q8TEF7|Q96HS9	Frame_Shift_Ins	INS	ENST00000342740.5	37	c.2939_2940insC	CCDS32054.1																																																																																				0.594	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		9	136						9	136	---	---	---	---
ABHD12B	145447	broad.mit.edu	37	14	51347189	51347190	+	Frame_Shift_Ins	INS	-	-	G	rs141865189|rs200952659		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:51347189_51347190insG	ENST00000337334.2	+	4	370_371	c.355_356insG	c.(355-357)cggfs	p.R119fs	ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.R12fs|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.R42fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	119							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CCCCAGCTGCCGGGGGGAAGAT	0.49																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.(355-357)gggfs		abhydrolase domain containing 12B																																				SO:0001589	frameshift_variant	145447						hydrolase activity	g.chr14:51347189_51347190insG	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.361dupG	14.37:g.51347195_51347195dupG	ENSP00000336693:p.Arg119fs					PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs	p.G119fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN			4	370_371	+	all_epithelial(31;0.00481)|Breast(41;0.148)		119					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Frame_Shift_Ins	INS	ENST00000337334.2	37	c.355_356insG	CCDS55916.1																																																																																				0.490	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			10	298						10	298	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cctfs	p.P239fs	MED6_ENST00000440435.2_3'UTR|MED6_ENST00000430055.2_Frame_Shift_Ins_p.P246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.P239fs	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.45																																						ENST00000256379.5																			1	Insertion - Frameshift(1)	p.E240fs*1(1)	skin(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(715-717)cgafs		mediator complex subunit 6																																				SO:0001589	frameshift_variant	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71051554_71051555insG	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.717dupC	14.37:g.71051560_71051560dupG	ENSP00000256379:p.Pro239fs					MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR	p.R239fs	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	8	745_746	-			239					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Frame_Shift_Ins	INS	ENST00000256379.5	37	c.716_717insC	CCDS9805.1																																																																																				0.450	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		9	893						9	893	---	---	---	---
FAM161B	145483	broad.mit.edu	37	14	74413296	74413297	+	Frame_Shift_Ins	INS	-	-	G	rs113301882	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr14:74413296_74413297insG	ENST00000534936.1	-	2	171_172	c.66_67insC	c.(64-69)cccgagfs	p.E23fs	FAM161B_ENST00000286544.3_Frame_Shift_Ins_p.E86fs			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	23										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCGAAGGACTCGGGGGGAAATA	0.465																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(253-258)ccagtcfs		family with sequence similarity 161, member B																																				SO:0001589	frameshift_variant	145483							g.chr14:74413296_74413297insG	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.67dupC	14.37:g.74413302_74413302dupG	ENSP00000445326:p.Glu23fs					FAM161B_ENST00000534936.1_Frame_Shift_Ins_p.V23fs	p.V86fs	NM_152445.2	NP_689658.2					2	453_454	-								B7Z882|J3KNA2	Frame_Shift_Ins	INS	ENST00000534936.1	37	c.255_256insC																																																																																					0.465	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		7	561						7	561	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-7_ENST00000384404.1_RNA|SNORD116-5_ENST00000384462.1_RNA|SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATGAGTCCTCCAAAAAAAACAT	0.475																																						ENST00000549804.2																			0																																																			104472715							g.chr15:25310192_25310193insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310200_25310200dupA						SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA								0	538	+									RNA	INS	ENST00000549804.2	37																																																																																						0.475	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			9	248						9	248	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)cccgagfs	p.E1430fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.45																																						ENST00000261609.7																			1	Substitution - coding silent(1)	p.P1429P(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(4285-4290)ccagcafs		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28478873_28478874insG	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4288dupC	15.37:g.28478879_28478879dupG	ENSP00000261609:p.Glu1430fs						p.A1430fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	28	4395_4396	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1430						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.4287_4288insC	CCDS10021.1																																																																																				0.450	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		7	194						7	194	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42703178	42703179	+	Frame_Shift_Ins	INS	-	-	TTCA	rs80338804		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:42703178_42703179insTTCA	ENST00000397163.3	+	22	2579_2580	c.2360_2361insTTCA	c.(2359-2364)gttaggfs	p.R788fs	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Frame_Shift_Ins_p.R123fs|CAPN3_ENST00000356316.3_Frame_Shift_Ins_p.R695fs|CAPN3_ENST00000397200.4_Frame_Shift_Ins_p.R276fs|CAPN3_ENST00000318023.7_Frame_Shift_Ins_p.R782fs|CAPN3_ENST00000561817.1_Frame_Shift_Ins_p.R123fs|CAPN3_ENST00000357568.3_Frame_Shift_Ins_p.R782fs|CAPN3_ENST00000397204.4_Frame_Shift_Ins_p.R123fs|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000349748.3_Frame_Shift_Ins_p.R696fs|CAPN3_ENST00000569136.1_Frame_Shift_Ins_p.R123fs	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	788	Domain IV.|EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGCTGCTTCGTTAGGCTGGAGG	0.515																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(2359-2361)gagfs		calpain 3, (p94)																																				SO:0001589	frameshift_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42703178_42703179insTTCA	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	Exception_encountered	15.37:g.42703178_42703179insTTCA	ENSP00000380349:p.Arg788fs					CAPN3_ENST00000318023.7_Frame_Shift_Ins_p.E781fs|CAPN3_ENST00000561817.1_Frame_Shift_Ins_p.E122fs|CAPN3_ENST00000562199.1_3'UTR|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000569136.1_Frame_Shift_Ins_p.E122fs|CAPN3_ENST00000349748.3_Frame_Shift_Ins_p.E695fs|CAPN3_ENST00000337571.4_Frame_Shift_Ins_p.E122fs|CAPN3_ENST00000356316.3_Frame_Shift_Ins_p.E694fs|CAPN3_ENST00000357568.3_Frame_Shift_Ins_p.E781fs|CAPN3_ENST00000397200.4_Frame_Shift_Ins_p.E275fs|CAPN3_ENST00000397204.4_Frame_Shift_Ins_p.E122fs	p.E787fs	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	22	2579_2580	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	787			Domain IV.|EF-hand 4.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Frame_Shift_Ins	INS	ENST00000397163.3	37	c.2360_2361insTTCA	CCDS45245.1																																																																																				0.515	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			57	200						57	200	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42731523	42731524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:42731523_42731524insC	ENST00000263805.4	-	8	4508_4509	c.4182_4183insG	c.(4180-4185)gggaaafs	p.K1395fs	ZNF106_ENST00000565611.1_Frame_Shift_Ins_p.K580fs|ZNF106_ENST00000565380.1_Frame_Shift_Ins_p.K623fs	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1395					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTTGTTACTTTCCCCCCTTTAA	0.465																																						ENST00000263805.4																			0											c.(4180-4185)ggaagtfs		zinc finger protein 106																																				SO:0001589	frameshift_variant	64397							g.chr15:42731523_42731524insC	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4183dupG	15.37:g.42731529_42731529dupC	ENSP00000263805:p.Lys1395fs					ZNF106_ENST00000565380.1_Frame_Shift_Ins_p.S623fs|ZNF106_ENST00000565611.1_Frame_Shift_Ins_p.S580fs	p.S1395fs	NM_022473.1	NP_071918.1					8	4508_4509	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Frame_Shift_Ins	INS	ENST00000263805.4	37	c.4182_4183insG	CCDS32208.1																																																																																				0.465	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		7	278						7	278	---	---	---	---
LARP6	55323	broad.mit.edu	37	15	71125256	71125257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:71125256_71125257insG	ENST00000299213.8	-	3	680_681	c.610_611insC	c.(610-612)cagfs	p.Q204fs	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	204	RRM.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCATTCTTCTGGGGGGTGGCC	0.545																																						ENST00000299213.8																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						c.(610-612)gaafs		La ribonucleoprotein domain family, member 6																																				SO:0001589	frameshift_variant	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71125256_71125257insG	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.611dupC	15.37:g.71125262_71125262dupG	ENSP00000299213:p.Gln204fs						p.E204fs	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN			3	680_681	-			204					Q5XKE4|Q8N3N2|Q9NUR0	Frame_Shift_Ins	INS	ENST00000299213.8	37	c.610_611insC	CCDS32281.1																																																																																				0.545	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		8	402						8	402	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)cggfs	p.R138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.R138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function). {ECO:0000269|PubMed:14657428}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAACATTACTCGGGGGGCCATC	0.51																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM035076	IGF1R	M	rs121912426	c.(412-414)gggfs		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001589	frameshift_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251108_99251109insG	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.418dupG	15.37:g.99251114_99251114dupG	ENSP00000268035:p.Arg138fs					IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1023_1024	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		138		R -> Q (in IGF1RES; has decreased IGF1R function).			B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Ins	INS	ENST00000268035.6	37	c.412_413insG	CCDS10378.1																																																																																				0.510	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		9	262						9	262	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564																																						ENST00000568710.1																			0																																																			729486							g.chr16:81765_81766insC																													16.37:g.81771_81771dupC														0	434	-									RNA	INS	ENST00000568710.1	37																																																																																						0.564	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			9	489						9	489	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)accfs	p.T1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4531-4533)cccfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815060_2815061insC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4537dupC	16.37:g.2815066_2815066dupC	ENSP00000301740:p.Thr1511fs						p.P1511fs	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	5080_5081	+			1511			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	c.4531_4532insC	CCDS32373.1																																																																																				0.525	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			7	518						7	518	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)cccaaafs	p.K1557fs	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.5								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4666-4671)ccaagtfs	Direct reversal of damage	SLX4 structure-specific endonuclease subunit				0,4264		0,0,2132						5.5	1.0			163	1,8247		0,1,4123	no	frameshift	SLX4	NM_032444.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001589	frameshift_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3634840_3634841insG	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4669dupC	16.37:g.3634846_3634846dupG	ENSP00000294008:p.Lys1557fs						p.S1557fs	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			13	5308_5309	-			1557			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Frame_Shift_Ins	INS	ENST00000294008.3	37	c.4668_4669insC	CCDS10506.2																																																																																				0.500	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		14	826						14	826	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs						p.S1100fs	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			13	580						13	580	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:20966297_20966298insG	ENST00000261383.3	-	55	10907_10908	c.10908_10909insC	c.(10906-10911)cccaaafs	p.K3637fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3637	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGAGCCCTTTGGGGGGCTCAT	0.51																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10906-10911)ccaaggfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20966297_20966298insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10909dupC	16.37:g.20966303_20966303dupG	ENSP00000261383:p.Lys3637fs					DNAH3_ENST00000415178.1_3'UTR	p.R3637fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	55	10907_10908	-			3637			AAA 6 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.10908_10909insC	CCDS10594.1																																																																																				0.510	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		10	310						10	310	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G	rs571509663		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CCTATAACAAAGGGGGGGGAAA	0.381																																						ENST00000546471.1																			0																																																			730092							g.chr16:21814059_21814060insG			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21814067_21814067dupG														0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.381	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		7	77						7	77	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3733-3735)gggfs	p.G1245fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1245	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3730-3735)gcggggfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30733909_30733910insG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3738dupG	16.37:g.30733915_30733915dupG	ENSP00000262518:p.Gly1245fs					SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	p.AG1244fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		23	4117_4118	+			1244			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.3732_3733insG	CCDS10689.2																																																																																				0.614	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		7	543						7	543	---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072705	31072706	+	Frame_Shift_Ins	INS	-	-	G	rs77284397		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:31072705_31072706insG	ENST00000538906.1	-	3	2327_2328	c.1543_1544insC	c.(1543-1545)cagfs	p.Q515fs	ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000535577.1_Frame_Shift_Ins_p.Q515fs|ZNF668_ENST00000426488.2_Frame_Shift_Ins_p.Q538fs|ZNF668_ENST00000539836.3_Frame_Shift_Ins_p.Q538fs|ZNF668_ENST00000394983.2_Frame_Shift_Ins_p.Q515fs|ZNF668_ENST00000300849.4_Frame_Shift_Ins_p.Q515fs	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	515					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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCACACAAACTGGGGGGGCTTC	0.663																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1543-1545)gttfs		zinc finger protein 668			,,,	9,4255		0,9,2123					,,,	5.0	0.9			51	6,8248		0,6,4121	no	frameshift,frameshift,frameshift,frameshift	ZNF668	NM_024706.4,NM_001172670.1,NM_001172669.1,NM_001172668.1	,,,	0,15,6244	A1A1,A1R,RR		0.0727,0.2111,0.1198	,,,	,,,		15,12503				SO:0001589	frameshift_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072705_31072706insG		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1544dupC	16.37:g.31072712_31072712dupG	ENSP00000440149:p.Gln515fs					ZNF668_ENST00000535577.1_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000426488.2_Frame_Shift_Ins_p.V538fs|ZNF668_ENST00000539836.3_Frame_Shift_Ins_p.V538fs|ZNF668_ENST00000300849.4_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000394983.2_Frame_Shift_Ins_p.V515fs	p.V515fs	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			3	2327_2328	-			515					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Frame_Shift_Ins	INS	ENST00000538906.1	37	c.1543_1544insC	CCDS10701.1																																																																																				0.663	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		8	117						8	117	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)aggfs	p.R498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					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						TCCCTTGCCTAGGGGGGTGAGT	0.629																																						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.(1492-1494)gggfs		integrin, alpha D				1,4263		0,1,2131						-8.3	0.0			80	0,8250		0,0,4125	no	frameshift	ITGAD	NM_005353.2		0,1,6256	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12513				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422532_31422533insG	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.1497dupG	16.37:g.31422538_31422538dupG	ENSP00000373854:p.Arg498fs						p.G498fs	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			13	1541_1542	+			498					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.1492_1493insG	CCDS32438.1																																																																																				0.629	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		11	724						11	724	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31426253	31426254	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:31426253_31426254insC	ENST00000389202.2	+	18	2273_2274	c.2224_2225insC	c.(2224-2226)tccfs	p.S742fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	742					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						GCCCATCCCCTCCCCCCAGAAC	0.545																																						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.(2224-2226)cccfs		integrin, alpha D																																				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31426253_31426254insC	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.2230dupC	16.37:g.31426259_31426259dupC	ENSP00000373854:p.Ser742fs						p.P742fs	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			18	2273_2274	+			742					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.2224_2225insC	CCDS32438.1																																																																																				0.545	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		7	223						7	223	---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	57938727	57938728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:57938727_57938728insC	ENST00000251102.8	-	26	2604_2605	c.2544_2545insG	c.(2542-2547)gggctgfs	p.L849fs	CNGB1_ENST00000564448.1_Frame_Shift_Ins_p.L843fs	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	849					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGTCAGGCAGCCCCCCGATGG	0.51																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2524-2529)ggtgccfs		cyclic nucleotide gated channel beta 1				0,3628		0,0,1814						5.1	1.0			103	1,7895		0,1,3947	no	frameshift	CNGB1	NM_001297.4		0,1,5761	A1A1,A1R,RR		0.0127,0.0,0.0087				1,11523				SO:0001589	frameshift_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57938727_57938728insC	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2545dupG	16.37:g.57938733_57938733dupC	ENSP00000251102:p.Leu849fs					CNGB1_ENST00000251102.8_Frame_Shift_Ins_p.A849fs	p.A843fs			Q14028	CNGB1_HUMAN			26	2586_2587	-			849					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Frame_Shift_Ins	INS	ENST00000251102.8	37	c.2526_2527insG	CCDS42169.1																																																																																				0.510	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		7	414						7	414	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1227)ggccccfs	p.GP408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.GP408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													CCCCCCT|CCCCCCC|CCCCCCCC|complex_insertion	5	0.000998403	0.0008	0.0029	5008	,	,		22846	0.0		0.0	False		,,,				2504	0.002					ENST00000219139.3																			1	Insertion - Frameshift(1)	p.R411fs*4(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(1222-1224)gccfs		chromosome 16 open reading frame 70																																				SO:0001589	frameshift_variant	80262							g.chr16:67180988_67180989insC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1230dupC	16.37:g.67180995_67180995dupC	ENSP00000219139:p.Gly408fs					C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	16	1411_1412	+		Ovarian(137;0.192)	408					Q9HA86	Frame_Shift_Ins	INS	ENST00000219139.3	37	c.1223_1224insC	CCDS10828.1																																																																																				0.594	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		14	204						14	204	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:68021467_68021468insG	ENST00000572888.1	-	10	2052_2053	c.1402_1403insC	c.(1402-1404)cacfs	p.H468fs	DPEP2_ENST00000412757.2_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	468			H -> D (in dbSNP:rs1133090).		arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGGCCATGTGGGGGGAGGAC	0.545																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1402-1404)catfs		dipeptidase 2																																				SO:0001589	frameshift_variant	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68021467_68021468insG	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1403dupC	16.37:g.68021473_68021473dupG	ENSP00000458977:p.His468fs					DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs	p.H468fs			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	12	2067_2068	-		Ovarian(137;0.192)	468		H -> D (in dbSNP:rs1133090).			B2RCF8|Q6UX92|Q8TC95	Frame_Shift_Ins	INS	ENST00000572888.1	37	c.1402_1403insC	CCDS10857.1																																																																																				0.545	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		8	356						8	356	---	---	---	---
FA2H	79152	broad.mit.edu	37	16	74752942	74752943	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:74752942_74752943insG	ENST00000219368.3	-	5	798_799	c.729_730insC	c.(727-732)cccagcfs	p.S244fs	FA2H_ENST00000544337.1_Frame_Shift_Ins_p.S31fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	244					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGCTGTCGCTGGGGGGCTTCA	0.614																																						ENST00000219368.3																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(727-732)ccgcgafs		fatty acid 2-hydroxylase																																				SO:0001589	frameshift_variant	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74752942_74752943insG	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.730dupC	16.37:g.74752948_74752948dupG	ENSP00000219368:p.Ser244fs					FA2H_ENST00000544337.1_Frame_Shift_Ins_p.R31fs	p.R244fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN			5	798_799	-			244					B7Z8T6|O75213|Q96DK1|Q9H1A5	Frame_Shift_Ins	INS	ENST00000219368.3	37	c.729_730insC	CCDS10911.1																																																																																				0.614	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		7	258						7	258	---	---	---	---
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tatccc>tac	p.P360del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	360					negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(1075-1080)tac>ta		telomeric repeat binding factor 2, interacting protein																																				SO:0001651	inframe_deletion	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690386_75690388delTCC	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.1077_1079delTCC	16.37:g.75690386_75690388delTCC	ENSP00000300086:p.Pro360del						p.YP359del	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			3	1174_1176	+			359					B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	In_Frame_Del	DEL	ENST00000300086.4	37	c.1077_1079delTCC	CCDS32491.1																																																																																				0.453	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		8	391						8	391	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs|PAFAH1B1_ENST00000572915.2_Intron	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						TGTTCCATTCTGGGGGGAAGTT	0.401																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1042-1047)tcggggfs		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)																																				SO:0001589	frameshift_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.chr17:2583499_2583500insG	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.1050dupG	17.37:g.2583505_2583505dupG	ENSP00000380378:p.Gly349fs					PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs	p.SG348fs	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			10	1495_1496	+			348			Interaction with dynein and dynactin.			Frame_Shift_Ins	INS	ENST00000397195.5	37	c.1044_1045insG	CCDS32528.1																																																																																				0.401	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		8	604						8	604	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		A -> T.		aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(892-894)cccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6903739_6903740insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.898dupC	17.37:g.6903745_6903745dupC	ENSP00000251535:p.Ala298fs					AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	p.P298fs	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			7	945_946	+			298		A -> T.	Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.892_893insC	CCDS11084.1																																																																																				0.554	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			16	1102						16	1102	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7496121	7496122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:7496121_7496122insG	ENST00000250113.7	-	14	1953_1954	c.1619_1620insC	c.(1618-1620)ccafs	p.P540fs	SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	540						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P540fs*32(1)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGGCACTTGCTGGGGGGGGTTC	0.609																																						ENST00000250113.7																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P540fs*32(1)|p.A541fs*14(1)	large_intestine(2)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1618-1620)cgcfs		fragile X mental retardation, autosomal homolog 2																																				SO:0001589	frameshift_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496121_7496122insG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1620dupC	17.37:g.7496129_7496129dupG	ENSP00000250113:p.Pro540fs						p.R540fs	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	14	1953_1954	-			540					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Ins	INS	ENST00000250113.7	37	c.1619_1620insC	CCDS45604.1																																																																																				0.609	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			12	51						12	51	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(985-987)cccfs	p.P329fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	329					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(982-987)ggccccfs		ephrin-B3																																				SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612855_7612856insC	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.991dupC	17.37:g.7612862_7612862dupC	ENSP00000226091:p.Pro329fs						p.GP328fs	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			5	1381_1382	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	328					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Ins	INS	ENST00000226091.2	37	c.984_985insC	CCDS11120.1																																																																																				0.574	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		8	165						8	165	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10555835	10555836	+	Frame_Shift_Ins	INS	-	-	G	rs139160750		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:10555835_10555836insG	ENST00000583535.1	-	4	336_337	c.249_250insC	c.(247-252)cccaagfs	p.K84fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.K84fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	84					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTCGAACTTGGGGGGGTTCA	0.495																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(247-252)ccagttfs		myosin, heavy chain 3, skeletal muscle, embryonic																																				SO:0001589	frameshift_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10555835_10555836insG		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.250dupC	17.37:g.10555842_10555842dupG	ENSP00000464317:p.Lys84fs					MYH3_ENST00000226209.7_Frame_Shift_Ins_p.V84fs	p.V84fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			4	336_337	-			84			Myosin head-like.		Q15492	Frame_Shift_Ins	INS	ENST00000583535.1	37	c.249_250insC	CCDS11157.1																																																																																				0.495	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		18	210						18	210	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G	rs376316249		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)ccafs	p.P919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.P946fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.48																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2755-2757)cgafs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959374_27959375insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2757dupC	17.37:g.27959381_27959381dupG	ENSP00000269033:p.Pro919fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	p.R919fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	2907_2908	-			919					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.2756_2757insC	CCDS11253.1																																																																																				0.480	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		58	885						58	885	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs562474149|rs35554312	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cccatgfs	p.M625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.M652fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.47																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1870-1875)cctgtcfs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963294_27963295insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1873dupC	17.37:g.27963301_27963301dupG	ENSP00000269033:p.Met625fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	p.V625fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	2023_2024	-			625					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.1872_1873insC	CCDS11253.1																																																																																				0.470	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		9	213						9	213	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:31439004_31439005insC	ENST00000359872.6	-	2	1397_1398	c.636_637insG	c.(634-639)gggacafs	p.T213fs	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Frame_Shift_Ins_p.T264fs|RP11-40A13.1_ENST00000584688.1_RNA	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.55																																						ENST00000225823.2																			0											c.(787-792)ggcaggfs		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31439004_31439005insC	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.637dupG	17.37:g.31439011_31439011dupC	ENSP00000352934:p.Thr213fs					RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs	p.R264fs	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN			2	1661_1662	-			213					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Ins	INS	ENST00000359872.6	37	c.789_790insG	CCDS42296.1																																																																																				0.550	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		8	157						8	157	---	---	---	---
STAT5B	6777	broad.mit.edu	37	17	40370235	40370236	+	Frame_Shift_Ins	INS	-	-	G	rs144993426		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:40370235_40370236insG	ENST00000293328.3	-	9	1270_1271	c.1102_1103insC	c.(1102-1104)cagfs	p.Q368fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	368					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCTTCACCTGGGGGGGGTTC	0.574																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	GRCh37	CI064735	STAT5B	I		c.(1102-1104)ggtfs		signal transducer and activator of transcription 5B	Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40370235_40370236insG	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1103dupC	17.37:g.40370243_40370243dupG	ENSP00000293328:p.Gln368fs						p.G368fs	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	9	1270_1271	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	368					Q8WWS8	Frame_Shift_Ins	INS	ENST00000293328.3	37	c.1102_1103insC	CCDS11423.1																																																																																				0.574	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		11	98						11	98	---	---	---	---
ETV4	2118	broad.mit.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)cccagafs	p.R134fs	ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000538265.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000545089.1_Intron	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(397-402)ccgacafs		ets variant 4																																				SO:0001589	frameshift_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41610700_41610701insG	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.400dupC	17.37:g.41610707_41610707dupG	ENSP00000321835:p.Arg134fs					ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545089.1_Intron|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs	p.T134fs	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	7	697_698	-		Breast(137;0.00908)	134					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Frame_Shift_Ins	INS	ENST00000319349.5	37	c.399_400insC	CCDS11465.1																																																																																				0.579	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		12	138						12	138	---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43195683	43195684	+	Frame_Shift_Ins	INS	-	-	C	rs371687407		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:43195683_43195684insC	ENST00000322765.5	-	6	1202_1203	c.1089_1090insG	c.(1087-1092)gggcccfs	p.P364fs	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	364	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						GTGCTGCTGGGCCCCCCGATCT	0.599																																						ENST00000322765.5																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(1087-1092)ggccagfs		phospholipase C, delta 3	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43195683_43195684insC	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1090dupG	17.37:g.43195689_43195689dupC	ENSP00000313731:p.Pro364fs					PLCD3_ENST00000540511.1_5'UTR	p.Q364fs	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			6	1202_1203	-			364			PI-PLC X-box.		Q8TEC1|Q8TF37|Q96FL6	Frame_Shift_Ins	INS	ENST00000322765.5	37	c.1089_1090insG																																																																																					0.599	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		7	240						7	240	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)cccaagfs	p.K21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.K21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569																																						ENST00000323456.5																			1	Insertion - Frameshift(1)	p.K21fs*20(1)	large_intestine(1)	breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(58-63)ccaggafs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590245_56590246insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.61dupC	17.37:g.56590252_56590252dupG	ENSP00000325285:p.Lys21fs					MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			3	184_185	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		21					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.60_61insC	CCDS11608.1																																																																																				0.569	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		8	274						8	274	---	---	---	---
MAP3K3	4215	broad.mit.edu	37	17	61744386	61744387	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:61744386_61744387insC	ENST00000361733.3	+	6	788_789	c.468_469insC	c.(469-471)cccfs	p.P157fs	MAP3K3_ENST00000361357.3_Frame_Shift_Ins_p.P188fs|MAP3K3_ENST00000584573.1_Frame_Shift_Ins_p.P188fs|MAP3K3_ENST00000579585.1_Frame_Shift_Ins_p.P188fs|MAP3K3_ENST00000577395.1_Frame_Shift_Ins_p.P157fs	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	157					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTATCTACCAGCCCCCCGAGCC	0.49																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(559-564)caccccfs		mitogen-activated protein kinase kinase kinase 3																																				SO:0001589	frameshift_variant	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61744386_61744387insC	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.474dupC	17.37:g.61744392_61744392dupC	ENSP00000354485:p.Pro157fs					MAP3K3_ENST00000579585.1_Frame_Shift_Ins_p.HP187fs|MAP3K3_ENST00000361733.3_Frame_Shift_Ins_p.HP156fs|MAP3K3_ENST00000577395.1_Frame_Shift_Ins_p.HP156fs|MAP3K3_ENST00000584573.1_Frame_Shift_Ins_p.HP187fs	p.HP187fs	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			7	879_880	+			156					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Frame_Shift_Ins	INS	ENST00000361733.3	37	c.561_562insC	CCDS32702.1																																																																																				0.490	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		9	401						9	401	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs					ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		17	667						17	667	---	---	---	---
GALR2	8811	broad.mit.edu	37	17	74073448	74073457	+	Frame_Shift_Del	DEL	GTCCTGGCCC	GTCCTGGCCC	-	rs67693166|rs66906990	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr17:74073448_74073457delGTCCTGGCCC	ENST00000329003.3	+	2	1190_1199	c.1100_1109delGTCCTGGCCC	c.(1099-1110)tgtcctggcccgfs	p.CPGP367fs	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	367					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTCGAGCCCTGTCCTGGCCCGTCCTGGCAG	0.657														157	0.0313498	0.09	0.0173	5008	,	,		17776	0.0		0.0119	False		,,,				2504	0.0143					ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(1099-1110)tgfs		galanin receptor 2				205,3565		39,127,1719						-4.3	0.0		dbSNP_130	5	75,7411		6,63,3674	no	frameshift	GALR2	NM_003857.2		45,190,5393	A1A1,A1R,RR		1.0019,5.4377,2.4876				280,10976				SO:0001589	frameshift_variant	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74073448_74073457delGTCCTGGCCC	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.1100_1109delGTCCTGGCCC	17.37:g.74073448_74073457delGTCCTGGCCC	ENSP00000329684:p.Cys367fs						p.CPGP367fs	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			2	1190_1199	+			367					A5JUU4|Q32MN8	Frame_Shift_Del	DEL	ENST00000329003.3	37	c.1100_1109delGTCCTGGCCC	CCDS11739.1																																																																																				0.657	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			7	6						7	6	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AACGAGGACTTGGGGGGGATGG	0.574																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2668-2673)ccagtcfs		complement component 3																																				SO:0001589	frameshift_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697480_6697481insG	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs						p.V891fs	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762_2763	-			891					A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	c.2670_2671insC	CCDS32883.1																																																																																				0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		10	216						10	216	---	---	---	---
CD209	30835	broad.mit.edu	37	19	7807934	7807935	+	Frame_Shift_Ins	INS	-	-	G	rs374114895		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:7807934_7807935insG	ENST00000315599.7	-	7	1227_1228	c.1205_1206insC	c.(1204-1206)cctfs	p.P402fs	CD209_ENST00000354397.6_Frame_Shift_Ins_p.P396fs|CD209_ENST00000602261.1_Frame_Shift_Ins_p.P310fs|CD209_ENST00000394161.5_Frame_Shift_Ins_p.P166fs|CD209_ENST00000394173.4_Frame_Shift_Ins_p.P241fs|CD209_ENST00000301357.8_Frame_Shift_Ins_p.P266fs|CD209_ENST00000601951.1_Frame_Shift_Ins_p.P378fs|CD209_ENST00000315591.8_Frame_Shift_Ins_p.P378fs|CD209_ENST00000593660.1_Frame_Shift_Ins_p.P332fs|CD209_ENST00000593821.1_Frame_Shift_Ins_p.P266fs|CD209_ENST00000204801.8_Frame_Shift_Ins_p.P358fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	402					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTACGCAGGAGGGGGGTTTGG	0.5																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1204-1206)cccfs		CD209 molecule																																				SO:0001589	frameshift_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7807934_7807935insG	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1206dupC	19.37:g.7807940_7807940dupG	ENSP00000315477:p.Pro402fs					CD209_ENST00000593660.1_Frame_Shift_Ins_p.P332fs|CD209_ENST00000593821.1_Frame_Shift_Ins_p.P266fs|CD209_ENST00000394173.4_Frame_Shift_Ins_p.P241fs|CD209_ENST00000204801.8_Frame_Shift_Ins_p.P358fs|CD209_ENST00000394161.5_Frame_Shift_Ins_p.P166fs|CD209_ENST00000301357.8_Frame_Shift_Ins_p.P266fs|CD209_ENST00000315591.8_Frame_Shift_Ins_p.P378fs|CD209_ENST00000601951.1_Frame_Shift_Ins_p.P378fs|CD209_ENST00000602261.1_Frame_Shift_Ins_p.P310fs|CD209_ENST00000354397.6_Frame_Shift_Ins_p.P396fs	p.P402fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			7	1227_1228	-			402					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Frame_Shift_Ins	INS	ENST00000315599.7	37	c.1205_1206insC	CCDS12186.1																																																																																				0.500	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		8	758						8	758	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9049102	9049103	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:9049102_9049103insA	ENST00000397910.4	-	5	32731_32732	c.32528_32529insT	c.(32527-32529)ttcfs	p.F10843fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10845	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTACTATGGAAAAAAATGGA	0.49																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32527-32529)tcafs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049102_9049103insA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32529dupT	19.37:g.9049109_9049109dupA	ENSP00000381008:p.Phe10843fs						p.S10843fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32731_32732	-			10845			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.32528_32529insT	CCDS54212.1																																																																																				0.490	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	816						9	816	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs						p.S7713fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	362						12	362	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gggfs	p.G139fs	CIB3_ENST00000379859.3_Frame_Shift_Ins_p.G90fs|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087). {ECO:0000269|PubMed:15489334}.				calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569																																						ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(415-417)gctfs		calcium and integrin binding family member 3																																				SO:0001589	frameshift_variant	117286						calcium ion binding	g.chr19:16275654_16275655insT	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.416_417insA	19.37:g.16275654_16275655insT	ENSP00000269878:p.Gly139fs					CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs	p.A139fs	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN			5	465_466	-			139		G -> E (in dbSNP:rs6512087).			E7EUX1|Q2M1W0|Q6ISP1	Frame_Shift_Ins	INS	ENST00000269878.4	37	c.416_417insA	CCDS12340.1																																																																																				0.569	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		7	199						7	199	---	---	---	---
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(487-489)cccfs	p.P163fs		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	163						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653																																						ENST00000599612.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(484-489)gtccccfs		MPV17 mitochondrial membrane protein-like 2																																				SO:0001589	frameshift_variant	84769					integral to membrane		g.chr19:18305818_18305819insC	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.493dupC	19.37:g.18305825_18305825dupC	ENSP00000469836:p.Pro163fs					MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	p.VP162fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN			4	586_587	+			162					Q96P34|Q96QA0|Q9BSG4	Frame_Shift_Ins	INS	ENST00000599612.2	37	c.486_487insC	CCDS42522.1																																																																																				0.653	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		7	114						7	114	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs						p.*520fs	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		17	647						17	647	---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:41825517_41825518insC	ENST00000269967.3	+	3	663_664	c.541_542insC	c.(541-543)gccfs	p.A181fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	181										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCGGTTCCGGGCCCCCCTGCTA	0.644																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(541-543)cccfs		coiled-coil domain containing 97																																				SO:0001589	frameshift_variant	90324							g.chr19:41825517_41825518insC	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.547dupC	19.37:g.41825523_41825523dupC	ENSP00000269967:p.Ala181fs						p.P181fs	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			3	663_664	+			181					Q658N6|Q96IF3	Frame_Shift_Ins	INS	ENST00000269967.3	37	c.541_542insC	CCDS12578.1																																																																																				0.644	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		8	782						8	782	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)cccfs		carcinoembryonic antigen-related cell adhesion molecule 5																																				SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224865_42224866insC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1802dupC	19.37:g.42224872_42224872dupC	ENSP00000221992:p.Ser599fs					CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs	p.P599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1909_1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Ins	INS	ENST00000221992.6	37	c.1795_1796insC	CCDS12584.1																																																																																				0.545	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		11	335						11	335	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Splice_Site	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:42621520_42621521insG	ENST00000526816.2	-	5	202		c.e5-2		POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q84fs|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGCCTTGATCTGGGGGGGAGAG	0.634																																						ENST00000560398.1																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(250-252)gatfs		POU class 2 homeobox 2																																				SO:0001630	splice_region_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42621520_42621521insG		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.187-2->C	19.37:g.42621527_42621527dupG						POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000560558.1_Intron	p.D84fs			P09086	PO2F2_HUMAN			5	257_258	-		Prostate(69;0.059)	62					Q16648|Q7M4M8|Q9BRS4	Frame_Shift_Ins	INS	ENST00000526816.2	37	c.250_251insC	CCDS56095.1																																																																																				0.634	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		Intron	14	279						14	279	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	527	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		26	710						26	710	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs					CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs	p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		13	327						13	327	---	---	---	---
PLEKHA4	57664	broad.mit.edu	37	19	49362155	49362156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:49362155_49362156insG	ENST00000263265.6	-	8	1488_1489	c.933_934insC	c.(931-936)cccaggfs	p.R312fs	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.R312fs	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	312	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TGGGGACTCCTGGGGGGCTTTC	0.653																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(931-936)ccggagfs		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4																																				SO:0001589	frameshift_variant	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362155_49362156insG	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.934dupC	19.37:g.49362161_49362161dupG	ENSP00000263265:p.Arg312fs					PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.E312fs	p.E312fs	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	8	1488_1489	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	312			Pro-rich.		Q8N4M8|Q8N658	Frame_Shift_Ins	INS	ENST00000263265.6	37	c.933_934insC	CCDS12737.1																																																																																				0.653	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			7	254						7	254	---	---	---	---
BAX	581	broad.mit.edu	37	19	49464240	49464241	+	Intron	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:49464240_49464241insC	ENST00000345358.7	+	5	526				BAX_ENST00000415969.2_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000293288.8_Frame_Shift_Ins_p.P182fs|CTD-2639E6.9_ENST00000599784.1_lincRNA|BAX_ENST00000354470.3_Intron	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		caccgtccctgcccccCGCCAC	0.634																																						ENST00000293288.8																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17						c.(541-546)ctccccfs		BCL2-associated X protein																																				SO:0001627	intron_variant	581				activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	g.chr19:49464240_49464241insC		CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.474+69->C	19.37:g.49464246_49464246dupC						BAX_ENST00000415969.2_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000345358.7_Intron|BAX_ENST00000539787.1_Intron	p.LP181fs	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)	5	543_544	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	0					A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Ins	INS	ENST00000345358.7	37	c.543_544insC	CCDS12742.1																																																																																				0.634	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763		9	238						9	238	---	---	---	---
SNRNP70	6625	broad.mit.edu	37	19	49589711	49589712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:49589711_49589712insC	ENST00000598441.1	+	2	264_265	c.40_41insC	c.(40-42)gccfs	p.A14fs	SNRNP70_ENST00000221448.5_Frame_Shift_Ins_p.A14fs			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	14					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R16fs*2(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGCCCTCTTTGCCCCCCGTGAC	0.54																																						ENST00000221448.5																			1	Insertion - Frameshift(1)	p.R16fs*2(1)	skin(1)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(40-42)cccfs		small nuclear ribonucleoprotein 70kDa (U1)																																				SO:0001589	frameshift_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49589711_49589712insC		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.46dupC	19.37:g.49589717_49589717dupC	ENSP00000472998:p.Ala14fs					SNRNP70_ENST00000598441.1_Frame_Shift_Ins_p.P14fs	p.P14fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			2	236_237	+			14					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Frame_Shift_Ins	INS	ENST00000598441.1	37	c.40_41insC	CCDS12756.1																																																																																				0.540	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		7	393						7	393	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs					TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		25	445						25	445	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)ggafs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1723-1725)gggfs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243087_50243088insC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1725dupG	19.37:g.50243093_50243093dupC	ENSP00000246801:p.Gly575fs					TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	p.G575fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1806_1807	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	575					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1724_1725insG	CCDS12780.1																																																																																				0.554	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		8	495						8	495	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	5	0.000998403	0.0	0.0	5008	,	,		18990	0.003		0.001	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(997-999)ctgfs		napsin A aspartic peptidase																																				SO:0001589	frameshift_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862305_50862306insC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.998dupG	19.37:g.50862312_50862312dupC	ENSP00000253719:p.Val333fs					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.L333fs	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1205_1206	-		all_neural(266;0.057)	333					Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	c.997_998insG	CCDS12794.1																																																																																				0.530	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		16	360						16	360	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs					KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		7	216						7	216	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)tccfs	p.S242fs	CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.S61fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.S242fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(724-726)cccfs		CCR4-NOT transcription complex, subunit 3																																				SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649666_54649667insC	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.728dupC	19.37:g.54649670_54649670dupC	ENSP00000383954:p.Ser242fs					CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs	p.P242fs			O75175	CNOT3_HUMAN			8	2327_2328	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		242					Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	ENST00000406403.1	37	c.724_725insC	CCDS12880.1																																																																																				0.644	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		7	93						7	93	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55324675	55324675	+	Intron	DEL	A	A	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr19:55324675delA	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000396284.2_Frame_Shift_Del_p.K268fs|KIR2DL4_ENST00000357494.4_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.M271fs*>3(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532																																						ENST00000396284.2																			1	Deletion - Frameshift(1)	p.M271fs*>3(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17						c.(796-798)aafs		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4			,,	51,3917		3,45,1936	66.0	101.0	90.0		,,	-1.0	0.0	19	dbSNP_134	94	51,8005		2,47,3979	no	frameshift,frameshift,intron	KIR2DL4	NM_002255.5,NM_001080772.1,NM_001080770.1	,,	5,92,5915	A1A1,A1R,RR		0.6331,1.2853,0.8483	,,	,,	55324675	102,11922	2077	4226	6303	SO:0001627	intron_variant	3805							g.chr19:55324675delA	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4314A>-	19.37:g.55324675delA						KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000345540.5_Intron	p.K268fs						GBM - Glioblastoma multiforme(193;0.0192)	6	796	+								O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000538269.1	37	c.796delA																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		10	529						10	529	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs					NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	p.VP86fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		8	366						8	366	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)gggcccfs	p.P573fs	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	573					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1714-1719)ggcccafs		FAST kinase domains 5			,,	6,4256		0,6,2125					,,	3.8	1.0			69	7,8247		0,7,4120	no	intron,frameshift,intron	UBOX5,FASTKD5	NM_199415.1,NM_021826.4,NM_014948.2	,,	0,13,6245	A1A1,A1R,RR		0.0848,0.1408,0.1039	,,	,,		13,12503				SO:0001589	frameshift_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128000_3128001insC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1717dupG	20.37:g.3128007_3128007dupC	ENSP00000369618:p.Pro573fs					UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.GP572fs	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	2037_2038	-			572					Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Ins	INS	ENST00000380266.3	37	c.1716_1717insG	CCDS13048.1																																																																																				0.436	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		11	156						11	156	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	ENST00000338380.2																			0				lung(3)|ovary(1)	4						c.(304-309)ccatttfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs						p.F103fs	NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN			3	326_327	-		Myeloproliferative disorder(115;0.0122)	103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			11	187						11	187	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs						p.PK775fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		27	545						27	545	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50305661	50305662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:50305661_50305662insG	ENST00000338821.5	-	9	1004_1005	c.740_741insC	c.(739-741)ccgfs	p.P247fs	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	247					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCGCTGATCGGGGGGTCGCT	0.564																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(739-741)catfs		ATPase, class II, type 9A																																				SO:0001589	frameshift_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50305661_50305662insG	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.741dupC	20.37:g.50305667_50305667dupG	ENSP00000342481:p.Pro247fs					ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.H247fs	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			9	1004_1005	-			247					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Frame_Shift_Ins	INS	ENST00000338821.5	37	c.740_741insC	CCDS33489.1																																																																																				0.564	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		8	296						8	296	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					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(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1654-1656)ccafs		ZFP64 zinc finger protein			,,,	11,4249		0,11,2119					,,,	-3.3	0.0			34	3,8249		0,3,4123	no	intron,frameshift,frameshift,frameshift	ZFP64	NM_199427.2,NM_199426.1,NM_022088.4,NM_018197.2	,,,	0,14,6242	A1A1,A1R,RR		0.0364,0.2582,0.1119	,,,	,,,		14,12498				SO:0001589	frameshift_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769075_50769076insG	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1656dupC	20.37:g.50769082_50769082dupG	ENSP00000216923:p.Pro552fs					ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs	p.P552fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	2004_2005	-			552					Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	ENST00000216923.4	37	c.1655_1656insC	CCDS13440.1																																																																																				0.673	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		8	62						8	62	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(535-537)cccfs		oxysterol binding protein-like 2			,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60854257_60854258insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs					OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	p.P179fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	738_739	+	Breast(26;7.76e-09)		179					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.536_537insC	CCDS13495.1																																																																																				0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		15	141						15	141	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37597905	37597906	+	Frame_Shift_Ins	INS	-	-	C	rs374472573		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr21:37597905_37597906insC	ENST00000399151.3	+	12	1498_1499	c.1413_1414insC	c.(1414-1416)cccfs	p.P472fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	472					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGTCAGCCCTCCCCCCACGGT	0.54																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1411-1416)ccccccfs		dopey family member 2																																				SO:0001589	frameshift_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37597905_37597906insC	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1419dupC	21.37:g.37597911_37597911dupC	ENSP00000382104:p.Pro472fs						p.PP471fs	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			12	1498_1499	+			471					D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Ins	INS	ENST00000399151.3	37	c.1413_1414insC	CCDS13643.1																																																																																				0.540	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		8	581						8	581	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		p.E1093K(1)		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)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.E1093K(1)	skin(1)	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.(3274-3279)ccaaaafs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	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.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs						p.PK1092fs	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			18	3753_3754	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092			Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		8	394						8	394	---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr21:45472274_45472275insA	ENST00000291574.4	+	4	574_575	c.399_400insA	c.(400-402)aaafs	p.K134fs	TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.K134fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	134					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356																																						ENST00000291574.4																			1	Substitution - Missense(1)	p.K133N(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(397-402)aaaaaafs		trafficking protein particle complex 10																																				SO:0001589	frameshift_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45472274_45472275insA	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.407dupA	21.37:g.45472282_45472282dupA	ENSP00000291574:p.Lys134fs					TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs	p.KK133fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			4	574_575	+			133					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Frame_Shift_Ins	INS	ENST00000291574.4	37	c.399_400insA	CCDS13704.1																																																																																				0.356	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		7	484						7	484	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)cggfs	p.R1760fs	MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.R1760fs|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1760	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5278-5280)gctfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47663396_47663397insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5279dupC	21.37:g.47663403_47663403dupG	ENSP00000380820:p.Arg1760fs					MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA	p.A1760fs			O60318	MCM3A_HUMAN			25	5532_5533	-	Breast(49;0.112)		1760					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.5278_5279insC	CCDS13734.1																																																																																				0.525	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		19	312						19	312	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)gggatgfs	p.M465fs	CECR1_ENST00000399837.2_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.M423fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.M224fs	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1390-1395)ggtgaafs		cat eye syndrome chromosome region, candidate 1																																				SO:0001589	frameshift_variant	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662759_17662760insC	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1393dupG	22.37:g.17662765_17662765dupC	ENSP00000382733:p.Met465fs					CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs	p.E465fs			Q9NZK5	CECR1_HUMAN			9	1662_1663	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	465					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Frame_Shift_Ins	INS	ENST00000399839.1	37	c.1392_1393insG	CCDS13742.1																																																																																				0.564	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			9	396						9	396	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1053)gtggggfs	p.VG350fs	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.VG350fs|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CTGGAATACGTGGGGGGCATCA	0.54											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1048-1050)gggfs		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)																																			SO:0001589	frameshift_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21138419_21138420insG	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1055dupG	22.37:g.21138425_21138425dupG	ENSP00000215727:p.Val350fs		OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	746	SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	p.G350fs	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		3	1332_1333	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	350					B2RAI1|D3DX34|Q6IBZ5	Frame_Shift_Ins	INS	ENST00000215727.5	37	c.1049_1050insG	CCDS13783.1																																																																																				0.540	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		10	537						10	537	---	---	---	---
CRYBB1	1414	broad.mit.edu	37	22	26995459	26995460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:26995459_26995460insG	ENST00000215939.2	-	6	883_884	c.753_754insC	c.(751-756)cccaagfs	p.K252fs	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	252	C-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGGACTCACTTGGGGGGCTCTG	0.554																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(751-756)ccagtgfs		crystallin, beta B1																																				SO:0001589	frameshift_variant	1414				visual perception		structural constituent of eye lens	g.chr22:26995459_26995460insG		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.754dupC	22.37:g.26995465_26995465dupG	ENSP00000215939:p.Lys252fs						p.V252fs	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			6	883_884	-			252			C-terminal arm.			Frame_Shift_Ins	INS	ENST00000215939.2	37	c.753_754insC	CCDS13840.1																																																																																				0.554	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		7	338						7	338	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			1	Deletion - Frameshift(1)	p.G163fs*20(1)	lung(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(487-489)ggafs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38895454_38895455insC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489dupG	22.37:g.38895461_38895461dupC	ENSP00000380033:p.Gly163fs					DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	p.G163fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			3	587_588	-	Melanoma(58;0.0286)		84			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.488_489insG	CCDS46706.1																																																																																				0.381	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		8	202						8	202	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)tccfs	p.S1234fs	TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.S1124fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.S430fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.45																																						ENST00000454349.2																			0				breast(1)	1						c.(3700-3702)cccfs		trinucleotide repeat containing 6B																																				SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40681766_40681767insC	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3706dupC	22.37:g.40681772_40681772dupC	ENSP00000401946:p.Ser1234fs					TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs	p.P1234fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			12	3911_3912	+			1234					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	ENST00000454349.2	37	c.3700_3701insC	CCDS54533.1																																																																																				0.450	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				12	355						12	355	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6964-6966)cccfs	p.P2322fs	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2322					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6961-6966)caccccfs		E1A binding protein p300																																				SO:0001589	frameshift_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574678_41574679insC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6970dupC	22.37:g.41574685_41574685dupC	ENSP00000263253:p.Pro2322fs					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.HP2321fs	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	8182_8183	+			2321					B1AKC2	Frame_Shift_Ins	INS	ENST00000263253.7	37	c.6963_6964insC	CCDS14010.1																																																																																				0.609	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		7	86						7	86	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)tccfs	p.S432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.52																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1294-1296)cccfs		sterol regulatory element binding transcription factor 2																																				SO:0001589	frameshift_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42271636_42271637insC	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1301dupC	22.37:g.42271643_42271643dupC	ENSP00000354476:p.Ser432fs						p.P432fs	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			7	1460_1461	+			432			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Ins	INS	ENST00000361204.4	37	c.1294_1295insC	CCDS14023.1																																																																																				0.520	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		12	219						12	219	---	---	---	---
ARSA	410	broad.mit.edu	37	22	51065756	51065757	+	Frame_Shift_Ins	INS	-	-	C	rs74315455		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chr22:51065756_51065757insC	ENST00000547307.1	-	2	701_702	c.296_297insG	c.(295-297)ggcfs	p.G99fs	ARSA_ENST00000356098.5_Frame_Shift_Ins_p.G101fs|ARSA_ENST00000547805.1_Frame_Shift_Ins_p.G99fs|ARSA_ENST00000453344.2_Frame_Shift_Ins_p.G15fs|ARSA_ENST00000395621.3_Frame_Shift_Ins_p.G101fs|ARSA_ENST00000216124.5_Frame_Shift_Ins_p.G101fs|ARSA_ENST00000395619.3_Frame_Shift_Ins_p.G101fs			P15289	ARSA_HUMAN	arylsulfatase A	99			G -> D (in MLD; adult type; dbSNP:rs74315455). {ECO:0000269|PubMed:1673291, ECO:0000269|PubMed:21265945}.|G -> V (in MLD; late-infantile form; dbSNP:rs74315455). {ECO:0000269|PubMed:10477432}.		autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CCAGGGGCAGGCCCCCCCGGGA	0.718																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9	GRCh37	CI090050|CM910050|CM990175	ARSA	I|M	rs74315455	c.(295-297)gctfs		arylsulfatase A	Micafungin(DB01141)																																			SO:0001589	frameshift_variant	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51065756_51065757insC	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.297dupG	22.37:g.51065763_51065763dupC	ENSP00000448440:p.Gly99fs					ARSA_ENST00000453344.2_Frame_Shift_Ins_p.A15fs|ARSA_ENST00000216124.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000356098.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000395621.3_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000547805.1_Frame_Shift_Ins_p.A99fs|ARSA_ENST00000395619.3_Frame_Shift_Ins_p.A101fs	p.A99fs			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	701_702	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	99		G -> D (in MLD; adult type).|G -> V (in MLD; late-infantile form).			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Frame_Shift_Ins	INS	ENST00000547307.1	37	c.296_297insG																																																																																					0.718	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		2	4						2	4	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs					SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		8	707						8	707	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs					SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	p.R142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			6	477_478	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		7	358						7	358	---	---	---	---
TIMM17B	10245	broad.mit.edu	37	X	48751486	48751487	+	Frame_Shift_Ins	INS	-	-	C	rs367759797		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:48751486_48751487insC	ENST00000376582.3	-	5	360_361	c.212_213insG	c.(211-213)ggcfs	p.G71fs	TIMM17B_ENST00000495490.2_Frame_Shift_Ins_p.G91fs|TIMM17B_ENST00000396779.3_Frame_Shift_Ins_p.G121fs|TIMM17B_ENST00000472645.1_5'UTR|TIMM17B_ENST00000465150.2_Frame_Shift_Ins_p.G121fs	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	71					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						TGGAGAACAGGCCCCCCCACAC	0.574																																						ENST00000396779.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(361-363)gctfs		translocase of inner mitochondrial membrane 17 homolog B (yeast)																																				SO:0001589	frameshift_variant	10245				protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chrX:48751486_48751487insC	AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.213dupG	X.37:g.48751493_48751493dupC	ENSP00000365766:p.Gly71fs					TIMM17B_ENST00000466995.1_5'UTR|TIMM17B_ENST00000376582.3_Frame_Shift_Ins_p.A71fs	p.A121fs	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN			6	510_511	-			71					A8K2E2|J3KPV3|Q9UJV0	Frame_Shift_Ins	INS	ENST00000376582.3	37	c.362_363insG	CCDS14308.1																																																																																				0.574	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2	NM_005834		3	5						3	5	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	2664fe7c-61ae-40cc-9411-7b4cd795169a	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gccfs		transcription factor binding to IGHM enhancer 3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs					TFE3_ENST00000493583.1_5'UTR	p.A482fs	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1704_1705	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		17	190						17	190	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636586	36636587	+	Frame_Shift_Ins	INS	-	-	C	rs145462639		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:36636586_36636587insC	ENST00000373151.2	+	2	277_278	c.61_62insC	c.(61-63)accfs	p.T21fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.T21fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.T21fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	21	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GGTCGCCAGGACCCCCCCAGAG	0.614																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(61-63)cccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636586_36636587insC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.68dupC	1.37:g.36636593_36636593dupC	ENSP00000362244:p.Thr21fs					MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P21fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P21fs	p.P21fs			Q3KQU3	MA7D1_HUMAN			2	514_515	+		Myeloproliferative disorder(586;0.0393)	21			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.61_62insC	CCDS30673.1																																																																																				0.614	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		8	295						8	295	---	---	---	---
LURAP1	541468	broad.mit.edu	37	1	46685795	46685802	+	Frame_Shift_Del	DEL	GTGGACCA	GTGGACCA	-	rs368699041		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:46685795_46685802delGTGGACCA	ENST00000371980.3	+	2	716_723	c.623_630delGTGGACCA	c.(622-630)ggtggaccafs	p.GGP208fs	POMGNT1_ENST00000396420.3_5'UTR|POMGNT1_ENST00000371992.1_5'UTR	NM_001013615.2	NP_001013633.1	Q96LR2	LURA1_HUMAN	leucine rich adaptor protein 1	208					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)											AGGCTTCAAGGTGGACCACCTGAGTCAC	0.587																																						ENST00000371980.3																			0											c.(622-630)gfs		leucine rich adaptor protein 1																																				SO:0001589	frameshift_variant	541468				positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm		g.chr1:46685795_46685802delGTGGACCA	AK057892	CCDS30703.1	1p34.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000171357	ENSG00000171357			32327	protein-coding gene	gene with protein product	"""leucine repeat adaptor protein 35a"""		"""chromosome 1 open reading frame 190"""	C1orf190		21048106	Standard	NM_001013615		Approved	FLJ25163, LRAP35a	uc010oma.2	Q96LR2	OTTHUMG00000007605	ENST00000371980.3:c.623_630delGTGGACCA	1.37:g.46685795_46685802delGTGGACCA	ENSP00000361048:p.Gly208fs					POMGNT1_ENST00000396420.3_5'UTR|POMGNT1_ENST00000371992.1_5'UTR	p.GGP208fs	NM_001013615.2	NP_001013633.1	Q96LR2	CA190_HUMAN			2	716_723	+			208						Frame_Shift_Del	DEL	ENST00000371980.3	37	c.623_630delGTGGACCA	CCDS30703.1																																																																																				0.587	LURAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020154.1	NM_001013615		25	85						25	85	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325835	152325848	+	Frame_Shift_Del	DEL	GTGGTATCTCCTGT	GTGGTATCTCCTGT	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:152325835_152325848delGTGGTATCTCCTGT	ENST00000388718.5	-	3	4486_4499	c.4414_4427delACAGGAGATACCAC	c.(4414-4428)acaggagataccactfs	p.TGDTT1472fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1472					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)			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)			GGCATGTCTAGTGGTATCTCCTGTCTGTCCATGA	0.5																																						ENST00000388718.5																			0				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.(4414-4428)tfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325835_152325848delGTGGTATCTCCTGT	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.4414_4427delACAGGAGATACCAC	1.37:g.152325835_152325848delGTGGTATCTCCTGT	ENSP00000373370:p.Thr1472fs					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.TGDTT1472fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4486_4499	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1472					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.4414_4427delACAGGAGATACCAC	CCDS30861.1																																																																																				0.500	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		35	632						35	632	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C	rs535534188		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr1:158262099_158262100insC	ENST00000368170.3	+	3	833_834	c.554_555insC	c.(553-558)tgccccfs	p.CP185fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	185					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGAAGCACTTGCCCCCGATTTC	0.45																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(553-555)tccfs		CD1c molecule																																				SO:0001589	frameshift_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262099_158262100insC	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.559dupC	1.37:g.158262104_158262104dupC	ENSP00000357152:p.Cys185fs						p.S185fs	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			3	833_834	+	all_hematologic(112;0.0378)		185					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Frame_Shift_Ins	INS	ENST00000368170.3	37	c.554_555insC	CCDS1175.1																																																																																				0.450	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		9	1699						9	1699	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54096596	54096596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:54096596delT	ENST00000404125.1	-	44	5235	c.5180delA	c.(5179-5181)catfs	p.H1727fs	PSME4_ENST00000421748.2_Frame_Shift_Del_p.H871fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1727	Bromodomain-like (BRDL).				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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGCTCAAAATGAATCTGCAT	0.408																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5179-5181)ctfs		proteasome (prosome, macropain) activator subunit 4							208.0	197.0	201.0					2																	54096596		2203	4300	6503	SO:0001589	frameshift_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54096596delT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5180delA	2.37:g.54096596delT	ENSP00000384211:p.His1727fs					PSME4_ENST00000421748.2_Frame_Shift_Del_p.H871fs|PSME4_ENST00000476586.1_5'UTR	p.H1727fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		44	5235	-			1727					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Del	DEL	ENST00000404125.1	37	c.5180delA	CCDS33197.2																																																																																				0.408	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		22	306						22	306	---	---	---	---
LOC101928553	101928553	broad.mit.edu	37	2	149629672	149629673	+	RNA	INS	-	-	C	rs370090371|rs535247185		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr2:149629672_149629673insC	ENST00000601658.1	-	0	676																											CTCTGGCCCTGCCCCCCCCCAA	0.441																																						ENST00000601658.1																			0																																																			101928553							g.chr2:149629672_149629673insC																													2.37:g.149629681_149629681dupC														0	676	-									RNA	INS	ENST00000601658.1	37																																																																																						0.441	AC105402.4-002	KNOWN	basic	antisense	antisense	OTTHUMT00000462024.1			6	6						6	6	---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155461206	155461207	+	Splice_Site	INS	-	-	AGA			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr4:155461206_155461207insAGA	ENST00000499023.2	-	11	1066		c.e11-1		PLRG1_ENST00000302078.5_Splice_Site|PLRG1_ENST00000393905.2_Splice_Site	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CATCCCAAATCTATAAAAACAC	0.342																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.e11-1		pleiotropic regulator 1																																				SO:0001630	splice_region_variant	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155461206_155461207insAGA	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.940-1->TCT	4.37:g.155461206_155461207insAGA						PLRG1_ENST00000393905.2_Splice_Site|PLRG1_ENST00000302078.5_Splice_Site		NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			11	1066	-	all_hematologic(180;0.215)	Renal(120;0.0854)						B3KMK4|Q3KQY5|Q8WUD8	Splice_Site	INS	ENST00000499023.2	37		CCDS34083.1																																																																																				0.342	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669	Intron	43	125						43	125	---	---	---	---
ZNF366	167465	broad.mit.edu	37	5	71739905	71739906	+	Frame_Shift_Ins	INS	-	-	G	rs188688331		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:71739905_71739906insG	ENST00000318442.5	-	5	2402_2403	c.1912_1913insC	c.(1912-1914)cagfs	p.Q638fs	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	638	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTGCTGGCTCTGGGGGGCCAGG	0.653																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1912-1914)gagfs		zinc finger protein 366																																				SO:0001589	frameshift_variant	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739905_71739906insG	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1913dupC	5.37:g.71739911_71739911dupG	ENSP00000313158:p.Gln638fs						p.E638fs	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2402_2403	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	638					Q5HYI9|Q7RTV4	Frame_Shift_Ins	INS	ENST00000318442.5	37	c.1912_1913insC	CCDS4015.1																																																																																				0.653	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			7	311						7	311	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149580754	149580755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:149580754_149580755insC	ENST00000230671.2	+	6	1197_1198	c.826_827insC	c.(826-828)accfs	p.T276fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.T276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	276					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTTCTATCTCACCCCCCAGTTC	0.634																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(826-828)cccfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149580754_149580755insC	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.832dupC	5.37:g.149580760_149580760dupC	ENSP00000230671:p.Thr276fs					SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs	p.P276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1197_1198	+		all_hematologic(541;0.224)	276					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.826_827insC	CCDS4305.1																																																																																				0.634	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		8	497						8	497	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(910-912)gggfs	p.G304fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.G304fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	304					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(907-912)ttggggfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581960_149581961insG	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.915dupG	5.37:g.149581966_149581966dupG	ENSP00000230671:p.Gly304fs					SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	p.LG303fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1280_1281	+		all_hematologic(541;0.224)	303					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.909_910insG	CCDS4305.1																																																																																				0.569	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		7	1174						7	1174	---	---	---	---
PTPN12	5782	broad.mit.edu	37	7	77256343	77256343	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr7:77256343delT	ENST00000248594.6	+	13	1619	c.1347delT	c.(1345-1347)agtfs	p.S449fs	PTPN12_ENST00000415482.2_Frame_Shift_Del_p.S330fs|PTPN12_ENST00000435495.2_Frame_Shift_Del_p.S319fs	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	449					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GACCAAAAAGTTTTGATGGGA	0.338																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1345-1347)agfs		protein tyrosine phosphatase, non-receptor type 12							49.0	53.0	52.0					7																	77256343		2202	4299	6501	SO:0001589	frameshift_variant	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256343delT		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1347delT	7.37:g.77256343delT	ENSP00000248594:p.Ser449fs					PTPN12_ENST00000415482.2_Frame_Shift_Del_p.S330fs|PTPN12_ENST00000435495.2_Frame_Shift_Del_p.S319fs	p.S449fs	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	1619	+			449					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Frame_Shift_Del	DEL	ENST00000248594.6	37	c.1347delT	CCDS5592.1																																																																																				0.338	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			16	59						16	59	---	---	---	---
C8orf37-AS1	100616530	broad.mit.edu	37	8	96415908	96415918	+	lincRNA	DEL	TTTTTTTTTTT	TTTTTTTTTTT	-	rs547474951|rs140735178		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr8:96415908_96415918delTTTTTTTTTTT	ENST00000521905.1	+	0	126																											aataaaAGACttttttttttttttttttttt	0.322																																						ENST00000521905.1																			0																																																			100616530							g.chr8:96415908_96415918delTTTTTTTTTTT																													8.37:g.96415908_96415918delTTTTTTTTTTT														0	126	+									RNA	DEL	ENST00000521905.1	37																																																																																						0.322	KB-1047C11.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000379669.1			4	3						4	3	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104175780	104175781	+	Frame_Shift_Ins	INS	-	-	G	rs561554640		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr10:104175780_104175781insG	ENST00000020673.5	-	3	1276_1277	c.750_751insC	c.(748-753)cccagcfs	p.S251fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.S251fs|PSD_ENST00000492902.2_5'Flank	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	251					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TTACCTGAGCTGGGGGGGTCCA	0.604																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(748-753)ccgctcfs		pleckstrin and Sec7 domain containing																																				SO:0001589	frameshift_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104175780_104175781insG	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.751dupC	10.37:g.104175787_104175787dupG	ENSP00000020673:p.Ser251fs					PSD_ENST00000406432.1_Frame_Shift_Ins_p.L251fs	p.L251fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	3	1276_1277	-			251					B1AKX7|D3DR87|Q15673|Q8IVG0	Frame_Shift_Ins	INS	ENST00000020673.5	37	c.750_751insC	CCDS31272.1																																																																																				0.604	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			2	4						2	4	---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:66055104_66055105insG	ENST00000376901.4	-	4	575_576	c.391_392insC	c.(391-393)cggfs	p.R131fs	YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.R131fs|YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000526497.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)		p.R131L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAGA	0.624																																						ENST00000376901.4																			1	Substitution - Missense(1)	p.R131L(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(391-393)gcafs		Yip1 interacting factor homolog A (S. cerevisiae)				18,4246		0,18,2114						4.8	1.0			29	10,8242		0,10,4116	no	frameshift	YIF1A	NM_020470.2		0,28,6230	A1A1,A1R,RR		0.1212,0.4221,0.2237				28,12488				SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055104_66055105insG	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.392dupC	11.37:g.66055111_66055111dupG	ENSP00000366098:p.Arg131fs					YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.A131fs|YIF1A_ENST00000471387.2_5'UTR	p.A131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			4	575_576	-			131					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Ins	INS	ENST00000376901.4	37	c.391_392insC	CCDS8132.1																																																																																				0.624	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		7	63						7	63	---	---	---	---
COA4	51287	broad.mit.edu	37	11	73584444	73584447	+	Intron	DEL	AGAA	AGAA	-	rs200767166		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr11:73584444_73584447delAGAA	ENST00000355693.4	-	2	232				COA4_ENST00000541455.1_Frame_Shift_Del_p.FY2fs|COA4_ENST00000537581.1_5'Flank|COA4_ENST00000537289.1_Intron|COA4_ENST00000545127.1_Intron	NM_016565.2	NP_057649.2	Q9NYJ1	COA4_HUMAN	cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)							mitochondrion (GO:0005739)											GGGAGTCTATAGAACATTAACAGG	0.471																																						ENST00000541455.1																			0											c.(4-9)atfs		cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)																																				SO:0001627	intron_variant	51287							g.chr11:73584444_73584447delAGAA	AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Mitochondrial respiratory chain complex assembly factors"""	24604	protein-coding gene	gene with protein product		608016	"""coiled-coil-helix-coiled-coil-helix domain containing 8"""	CHCHD8		11085516, 20624914	Standard	NM_016565		Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000355693.4:c.16-5TTCT>-	11.37:g.73584444_73584447delAGAA						COA4_ENST00000545127.1_Intron|COA4_ENST00000537289.1_Intron|COA4_ENST00000355693.4_Intron	p.FY2fs							2	397_400	-								B2RAA0|Q69YU4	Frame_Shift_Del	DEL	ENST00000355693.4	37	c.4_7delTTCT	CCDS8225.1																																																																																				0.471	COA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397878.1	NM_016565		32	89						32	89	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269805	31269806	+	RNA	INS	-	-	AAG	rs67001718|rs10650892|rs59759240	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:31269805_31269806insAAG	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAATATTCCTCAAACTTCTCTT	0.307														3185	0.635982	0.7133	0.6095	5008	,	,		11539	0.8284		0.4274	False		,,,				2504	0.5665					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														144203							g.chr12:31269805_31269806insAAG																													12.37:g.31269805_31269806insAAG														0	52	-									RNA	INS	ENST00000542490.1	37																																																																																						0.307	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			4	3						4	3	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121878782	121878783	+	Splice_Site	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr12:121878782_121878783insG	ENST00000377071.4	-	21	3521		c.e21-2		KDM2B_ENST00000377069.4_Splice_Site|KDM2B_ENST00000542973.1_Splice_Site|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B						embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCGGAGCCCTGGGGGGACATA	0.658																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.e20-2		lysine (K)-specific demethylase 2B																																				SO:0001630	splice_region_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121878782_121878783insG	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3449-2->C	12.37:g.121878788_121878788dupG						KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Splice_Site|KDM2B_ENST00000542973.1_Splice_Site		NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			20	3648	-								A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Splice_Site	INS	ENST00000377071.4	37		CCDS41850.1																																																																																				0.658	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	Intron	10	696						10	696	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21862449	21862450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:21862449_21862450insG	ENST00000557364.1	-	31	5848_5849	c.5585_5586insC	c.(5584-5586)ccafs	p.P1862fs	SNORD8_ENST00000363915.1_RNA|SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Frame_Shift_Ins_p.P1583fs|CHD8_ENST00000399982.2_Frame_Shift_Ins_p.P1862fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1862					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTCCAGCTGCTGGGGGAAGGCG	0.5																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(5584-5586)cgcfs		chromodomain helicase DNA binding protein 8																																				SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21862449_21862450insG	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5586dupC	14.37:g.21862454_21862454dupG	ENSP00000451601:p.Pro1862fs					CHD8_ENST00000430710.3_Frame_Shift_Ins_p.R1583fs|CHD8_ENST00000557364.1_Frame_Shift_Ins_p.R1862fs	p.R1862fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	30	5649_5650	-	all_cancers(95;0.00121)		1862					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Ins	INS	ENST00000557364.1	37	c.5585_5586insC	CCDS53885.1																																																																																				0.500	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		7	326						7	326	---	---	---	---
FAM161B	145483	broad.mit.edu	37	14	74413296	74413297	+	Frame_Shift_Ins	INS	-	-	G	rs113301882	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr14:74413296_74413297insG	ENST00000534936.1	-	2	171_172	c.66_67insC	c.(64-69)cccgagfs	p.E23fs	FAM161B_ENST00000286544.3_Frame_Shift_Ins_p.E86fs			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	23										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCGAAGGACTCGGGGGGAAATA	0.465																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(253-258)ccagtcfs		family with sequence similarity 161, member B																																				SO:0001589	frameshift_variant	145483							g.chr14:74413296_74413297insG	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.67dupC	14.37:g.74413302_74413302dupG	ENSP00000445326:p.Glu23fs					FAM161B_ENST00000534936.1_Frame_Shift_Ins_p.V23fs	p.V86fs	NM_152445.2	NP_689658.2					2	453_454	-								B7Z882|J3KNA2	Frame_Shift_Ins	INS	ENST00000534936.1	37	c.255_256insC																																																																																					0.465	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		7	561						7	561	---	---	---	---
U91319.1	0	broad.mit.edu	37	16	13356515	13356516	+	lincRNA	INS	-	-	AGGAAGGGAGGG	rs71147794		TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr16:13356515_13356516insAGGAAGGGAGGG	ENST00000571619.1	+	0	178																											ggaaggaaggaaggaaggaagg	0.465																																						ENST00000571619.1																			0																																																			0							g.chr16:13356515_13356516insAGGAAGGGAGGG																													16.37:g.13356515_13356516insAGGAAGGGAGGG														0	178	+									RNA	INS	ENST00000571619.1	37																																																																																						0.465	U91319.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436324.1			2	4						2	4	---	---	---	---
AP1M1	8907	broad.mit.edu	37	19	16314383	16314384	+	Frame_Shift_Ins	INS	-	-	G	rs146546344	byFrequency	TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:16314383_16314384insG	ENST00000291439.3	+	2	605_606	c.156_157insG	c.(157-159)gggfs	p.G53fs	AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.G53fs|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.G53fs	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	53					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCCTGGCCCACGGGGGGGTCCG	0.594																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(154-159)caggggfs		adaptor-related protein complex 1, mu 1 subunit																																				SO:0001589	frameshift_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16314383_16314384insG		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.163dupG	19.37:g.16314390_16314390dupG	ENSP00000291439:p.Gly53fs					AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000590756.1_Intron	p.QG52fs	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			2	605_606	+			52					Q4TTY5	Frame_Shift_Ins	INS	ENST00000291439.3	37	c.156_157insG	CCDS12342.1																																																																																				0.594	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		8	178						8	178	---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:41825517_41825518insC	ENST00000269967.3	+	3	663_664	c.541_542insC	c.(541-543)gccfs	p.A181fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	181										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCGGTTCCGGGCCCCCCTGCTA	0.644																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(541-543)cccfs		coiled-coil domain containing 97																																				SO:0001589	frameshift_variant	90324							g.chr19:41825517_41825518insC	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.547dupC	19.37:g.41825523_41825523dupC	ENSP00000269967:p.Ala181fs						p.P181fs	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			3	663_664	+			181					Q658N6|Q96IF3	Frame_Shift_Ins	INS	ENST00000269967.3	37	c.541_542insC	CCDS12578.1																																																																																				0.644	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		8	782						8	782	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3380-01A-01W-0886-08	TCGA-A3-3380-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5365a094-7a92-4649-96fc-836a70647bbe	4d170618-3340-476a-a943-2f3ce7207c7c	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)ggafs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1723-1725)gggfs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243087_50243088insC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1725dupG	19.37:g.50243093_50243093dupC	ENSP00000246801:p.Gly575fs					TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	p.G575fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1806_1807	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	575					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1724_1725insG	CCDS12780.1																																																																																				0.554	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		8	495						8	495	---	---	---	---
