#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
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.e7-1		coiled-coil domain containing 91							191.0	185.0	187.0					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458580A>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.110-1A>T	12.37:g.28458580A>T						CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site				Q7Z6B0	CCD91_HUMAN			7	528	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)							B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37		CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	11	413	0	0	0	1	0	11	413				
SLC43A3	29015	broad.mit.edu	37	11	57182112	57182112	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:57182112A>T	ENST00000395123.2	-	11	1340	c.1036T>A	c.(1036-1038)Tac>Aac	p.Y346N	SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000528098.1_5'Flank|SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	346					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TCCTTCTGGTACTTCTGTTTA	0.547																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1036-1038)Tac>Aac		solute carrier family 43, member 3							161.0	158.0	159.0					11																	57182112		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57182112A>T	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1036T>A	11.37:g.57182112A>T	ENSP00000378555:p.Tyr346Asn					SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N|SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N	p.Y346N	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			11	1340	-			346					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.1036T>A	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276931	0.59758	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.97	4.97	0.65823	Major facilitator superfamily domain, general substrate transporter (1);	0.201525	0.44285	D	0.000472	T	0.33352	0.0860	L	0.56769	1.78	0.34914	D	0.74777	B;P;B	0.38745	0.188;0.645;0.075	B;P;B	0.44422	0.166;0.449;0.102	T	0.45366	-0.9266	10	0.28530	T	0.3	-13.7562	8.1888	0.31354	0.8217:0.0:0.0:0.1783	.	359;346;346	E7EQD2;Q8NBI5;A8K2X6	.;S43A3_HUMAN;.	N	346;346;346;346;359	ENSP00000378555:Y346N;ENSP00000378556:Y346N;ENSP00000337561:Y346N;ENSP00000436254:Y346N;ENSP00000434515:Y359N	ENSP00000337561:Y346N	Y	-	1	0	SLC43A3	56938688	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	3.933000	0.56545	1.875000	0.54330	0.379000	0.24179	TAC		0.547	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		8	749	0	0	0	1	0	8	749				
MNT	4335	broad.mit.edu	37	17	2290636	2290636	+	Silent	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:2290636A>C	ENST00000174618.4	-	6	1713	c.1308T>G	c.(1306-1308)ggT>ggG	p.G436G	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	436					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CCGTGGAGCCACCCCCAGCCG	0.672																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1306-1308)ggT>ggG		MAX network transcriptional repressor							31.0	31.0	31.0					17																	2290636		2194	4276	6470	SO:0001819	synonymous_variant	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2290636A>C	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1308T>G	17.37:g.2290636A>C						MNT_ENST00000575374.1_5'UTR	p.G436G	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	6	1713	-			436					A8K6D1|D3DTI7|Q1ED38	Silent	SNP	ENST00000174618.4	37	c.1308T>G	CCDS11018.1																																																																																				0.672	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		10	72	0	0	0	1	0	10	72				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	9	0	0	0	1	0	3	9				
DNAH2	146754	broad.mit.edu	37	17	7630455	7630455	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:7630455T>C	ENST00000572933.1	+	4	1704	c.244T>C	c.(244-246)Tcc>Ccc	p.S82P	DNAH2_ENST00000389173.2_Missense_Mutation_p.S82P|DNAH2_ENST00000570791.1_Missense_Mutation_p.S82P|DNAH2_ENST00000082259.3_Missense_Mutation_p.S82P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	82	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTCTTCCTTTCCCGAGCTGC	0.537																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(244-246)Tcc>Ccc		dynein, axonemal, heavy chain 2							120.0	99.0	106.0					17																	7630455		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7630455T>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.244T>C	17.37:g.7630455T>C	ENSP00000458355:p.Ser82Pro					DNAH2_ENST00000570791.1_Missense_Mutation_p.S82P|DNAH2_ENST00000389173.2_Missense_Mutation_p.S82P|DNAH2_ENST00000082259.3_Missense_Mutation_p.S82P	p.S82P			Q9P225	DYH2_HUMAN			4	1704	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	82			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.244T>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098754	0.56183	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.56611	0.45;0.45	4.38	0.467	0.16721	.	10.506500	0.00481	N	0.000123	T	0.48960	0.1529	N	0.08118	0	0.09310	N	1	B;D	0.67145	0.09;0.996	B;P	0.62014	0.042;0.897	T	0.47947	-0.9077	10	0.31617	T	0.26	.	6.5132	0.22234	0.1575:0.0:0.4862:0.3563	.	82;82	Q9P225;Q9P225-3	DYH2_HUMAN;.	P	82	ENSP00000373825:S82P;ENSP00000082259:S82P	ENSP00000082259:S82P	S	+	1	0	DNAH2	7571180	0.276000	0.24211	0.374000	0.26016	0.968000	0.65278	0.108000	0.15396	0.272000	0.22027	0.482000	0.46254	TCC		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		26	127	0	0	0	1	0	26	127				
CCT8	10694	broad.mit.edu	37	21	30442608	30442608	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr21:30442608C>T	ENST00000286788.4	-	2	317	c.111G>A	c.(109-111)aaG>aaA	p.K37K	CCT8_ENST00000540844.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.K18K|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	37					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GGGCAAGCTCCTTGCAAGCTT	0.358																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(109-111)aaG>aaA		chaperonin containing TCP1, subunit 8 (theta)							82.0	78.0	79.0					21																	30442608		2203	4300	6503	SO:0001819	synonymous_variant	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30442608C>T	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.111G>A	21.37:g.30442608C>T						CCT8_ENST00000542732.1_Silent_p.K18K|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_5'UTR	p.K37K	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			2	317	-			37					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	ENST00000286788.4	37	c.111G>A	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	C	9.371	1.070493	0.20147	.	.	ENSG00000156261	ENST00000431234	.	.	.	4.74	1.94	0.25998	.	.	.	.	.	T	0.52273	0.1724	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43048	-0.9415	4	.	.	.	-17.9556	5.3509	0.16036	0.0:0.4715:0.0:0.5285	.	.	.	.	K	29	.	.	R	-	2	0	CCT8	29364479	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.350000	0.20079	0.724000	0.32296	0.561000	0.74099	AGG		0.358	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			7	34	0	0	0	1	0	7	34				
CYB561A3	220002	broad.mit.edu	37	11	61121350	61121350	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:61121350G>A	ENST00000294072.4	-	4	976	c.299C>T	c.(298-300)gCt>gTt	p.A100V	CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000426130.2_Missense_Mutation_p.A117V|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A100V|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A100V	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	100	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										CGTAAAGACAGCAACCAGCCC	0.602																																						ENST00000426130.2																			0											c.(349-351)gCt>gTt		cytochrome b561 family, member A3							196.0	177.0	183.0					11																	61121350		2203	4299	6502	SO:0001583	missense	220002							g.chr11:61121350G>A	AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.299C>T	11.37:g.61121350G>A	ENSP00000294072:p.Ala100Val					CYB561A3_ENST00000536915.1_Missense_Mutation_p.A100V|CYB561A3_ENST00000294072.4_Missense_Mutation_p.A100V|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A100V|CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000544118.1_Intron	p.A117V	NM_001161454.1	NP_001154926.1					5	1129	-								B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	c.350C>T	CCDS8004.1	.	.	.	.	.	.	.	.	.	.	G	36	5.920141	0.97105	.	.	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000536915;ENST00000540139;ENST00000542361;ENST00000537364;ENST00000539128	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.92	5.01	0.66863	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.053659	0.85682	D	0.000000	T	0.60457	0.2270	M	0.72894	2.215	0.58432	D	0.999998	D;P;D;P	0.58268	0.982;0.938;0.978;0.95	P;P;P;P	0.54460	0.753;0.478;0.638;0.634	T	0.63937	-0.6524	10	0.66056	D	0.02	-22.8953	14.5236	0.67870	0.0697:0.0:0.9302:0.0	.	117;100;100;100	B4DLN9;F5H0P5;F5H1Q2;Q8NBI2	.;.;.;CYAC3_HUMAN	V	117;100;100;100;12;100;100;100	ENSP00000398979:A117V;ENSP00000294072:A100V;ENSP00000389745:A100V;ENSP00000437390:A100V;ENSP00000441085:A12V;ENSP00000443321:A100V;ENSP00000438725:A100V;ENSP00000443005:A100V	ENSP00000294072:A100V	A	-	2	0	CYBASC3	60877926	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	7.484000	0.81180	2.809000	0.96659	0.655000	0.94253	GCT		0.602	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611		3	132	0	0	0	1	0	3	132				
ASTN2	23245	broad.mit.edu	37	9	119204736	119204736	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:119204736T>C	ENST00000313400.4	-	21	3694	c.3594A>G	c.(3592-3594)gcA>gcG	p.A1198A	ASTN2_ENST00000288520.5_Silent_p.A299A|ASTN2_ENST00000341734.4_Silent_p.A250A|ASTN2_ENST00000361209.2_Silent_p.A1147A|ASTN2_ENST00000361477.3_Silent_p.A250A|ASTN2_ENST00000373996.3_Silent_p.A1194A			O75129	ASTN2_HUMAN	astrotactin 2	1198					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCTACCTTCTGCCTTGTTGT	0.498																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3592-3594)gcA>gcG		astrotactin 2							198.0	169.0	179.0					9																	119204736		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119204736T>C	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3594A>G	9.37:g.119204736T>C						ASTN2_ENST00000288520.5_Silent_p.A299A|ASTN2_ENST00000361477.3_Silent_p.A250A|ASTN2_ENST00000361209.2_Silent_p.A1147A|ASTN2_ENST00000341734.4_Silent_p.A250A|ASTN2_ENST00000373996.3_Silent_p.A1194A	p.A1198A			O75129	ASTN2_HUMAN			21	3694	-			1198					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.3594A>G																																																																																					0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		73	302	0	0	0	1	0	73	302				
PCDHA4	56144	broad.mit.edu	37	5	140188113	140188113	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:140188113T>C	ENST00000530339.1	+	1	1341	c.1341T>C	c.(1339-1341)gaT>gaC	p.D447D	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D447D|PCDHA4_ENST00000356878.4_Silent_p.D447D|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGCTGATGTGAACGACA	0.642																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1339-1341)gaT>gaC									86.0	87.0	86.0					5																	140188113		2203	4300	6503	SO:0001819	synonymous_variant	56144							g.chr5:140188113T>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1341T>C	5.37:g.140188113T>C						PCDHA4_ENST00000356878.4_Silent_p.D447D|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.D447D|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.D447D	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1341	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1341T>C	CCDS54916.1																																																																																				0.642	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		13	194	0	0	0	1	0	13	194				
NOX4	50507	broad.mit.edu	37	11	89133249	89133249	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:89133249T>A	ENST00000263317.4	-	11	1250		c.e11-2		NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000525196.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAATATACTAAAAAGCAAC	0.289																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e11-2		NADPH oxidase 4							77.0	79.0	79.0					11																	89133249		2201	4296	6497	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89133249T>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1012-2A>T	11.37:g.89133249T>A						NOX4_ENST00000375979.3_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000542487.1_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			11	1250	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	SNP	ENST00000263317.4	37		CCDS8285.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949672	0.73787	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5774	0.68258	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOX4	88772897	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.989000	0.76219	1.914000	0.55421	0.459000	0.35465	.		0.289	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	4	46	0	0	0	1	0	4	46				
DYRK2	8445	broad.mit.edu	37	12	68052255	68052255	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:68052255G>A	ENST00000344096.3	+	3	1981	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	DYRK2_ENST00000393555.3_Missense_Mutation_p.R450H|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	523	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.R523H(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CCTGCAGTGCGCATGACCCCA	0.577																																						ENST00000344096.3																			2	Substitution - Missense(2)	p.R523H(2)	urinary_tract(1)|kidney(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1567-1569)cGc>cAc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2							71.0	76.0	74.0					12																	68052255		2203	4300	6503	SO:0001583	missense	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68052255G>A	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1568G>A	12.37:g.68052255G>A	ENSP00000342105:p.Arg523His					DYRK2_ENST00000393555.3_Missense_Mutation_p.R450H	p.R523H	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1981	+			523			Protein kinase.		B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	c.1568G>A	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265171	0.80358	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.71579	-0.58;-0.58	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91143	0.7211	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93994	0.7269	9	.	.	.	.	19.9428	0.97171	0.0:0.0:1.0:0.0	.	523	Q92630	DYRK2_HUMAN	H	523;450	ENSP00000342105:R523H;ENSP00000377186:R450H	.	R	+	2	0	DYRK2	66338522	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.869000	0.99810	2.800000	0.96347	0.455000	0.32223	CGC		0.577	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			4	255	0	0	0	1	0	4	255				
HIPK2	28996	broad.mit.edu	37	7	139281488	139281488	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:139281488C>T	ENST00000406875.3	-	12	2786	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Missense_Mutation_p.E871K	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	898	Interaction with TP53 and TP73.|Interaction with UBE2I. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TTCTGTTCCTCCTCCTCGTCC	0.607																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2692-2694)Gag>Aag		homeodomain interacting protein kinase 2							126.0	138.0	134.0					7																	139281488		2201	4291	6492	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139281488C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2692G>A	7.37:g.139281488C>T	ENSP00000385571:p.Glu898Lys					HIPK2_ENST00000428878.2_Missense_Mutation_p.E871K|HIPK2_ENST00000342645.6_Intron	p.E898K	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			12	2786	-	Melanoma(164;0.205)		898			Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.2692G>A		.	.	.	.	.	.	.	.	.	.	C	25.4	4.634415	0.87660	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.25749	1.78;1.78	5.41	5.41	0.78517	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.58432	D	0.999999	P;P	0.39665	0.682;0.59	B;B	0.33121	0.108;0.158	T	0.03364	-1.1044	8	0.51188	T	0.08	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	898;871	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	K	898;871	ENSP00000385571:E898K;ENSP00000413724:E871K	ENSP00000385571:E898K	E	-	1	0	HIPK2	138932028	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.127000	0.77210	2.826000	0.97356	0.655000	0.94253	GAG		0.607	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		71	338	0	0	0	1	0	71	338				
GPR111	222611	broad.mit.edu	37	6	47649012	47649012	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:47649012C>T	ENST00000296862.1	+	6	717	c.717C>T	c.(715-717)acC>acT	p.T239T	GPR111_ENST00000398742.2_Silent_p.T171T|GPR111_ENST00000507065.1_Silent_p.T171T			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	239					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTTACAGCACCATAGCCAACC	0.443																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(511-513)acC>acT		G protein-coupled receptor 111							68.0	66.0	66.0					6																	47649012		2026	4187	6213	SO:0001819	synonymous_variant	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649012C>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.717C>T	6.37:g.47649012C>T						GPR111_ENST00000296862.1_Silent_p.T239T|GPR111_ENST00000507065.1_Silent_p.T171T	p.T171T			Q8IZF7	GP111_HUMAN			5	562	+			239					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	ENST00000296862.1	37	c.513C>T																																																																																					0.443	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		5	192	0	0	0	1	0	5	192				
SENP1	29843	broad.mit.edu	37	12	48442848	48442848	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:48442848G>A	ENST00000004980.5	-	14	1953	c.1475C>T	c.(1474-1476)gCa>gTa	p.A492V	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.A492V|SENP1_ENST00000549518.1_Missense_Mutation_p.A492V|SENP1_ENST00000551330.1_Missense_Mutation_p.A492V|SENP1_ENST00000549595.1_Missense_Mutation_p.A492V			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	492	Protease.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GGTATTAAATGCATGCACACT	0.363																																						ENST00000004980.5																			0				large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(1474-1476)gCa>gTa		SUMO1/sentrin specific peptidase 1							111.0	105.0	107.0					12																	48442848		1865	4114	5979	SO:0001583	missense	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48442848G>A	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1475C>T	12.37:g.48442848G>A	ENSP00000004980:p.Ala492Val					SENP1_ENST00000549595.1_Missense_Mutation_p.A492V|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.A492V|SENP1_ENST00000549518.1_Missense_Mutation_p.A492V|SENP1_ENST00000551330.1_Missense_Mutation_p.A492V	p.A492V			Q9P0U3	SENP1_HUMAN			14	1953	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	492			Protease.		A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	c.1475C>T	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764302	0.89932	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.62	5.62	0.85841	.	0.139486	0.52532	D	0.000072	T	0.29288	0.0729	L	0.37561	1.115	0.80722	D	1	D;P	0.53312	0.959;0.949	P;B	0.46339	0.513;0.379	T	0.00928	-1.1511	10	0.40728	T	0.16	-10.9154	19.2729	0.94018	0.0:0.0:1.0:0.0	.	492;492	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	V	492	ENSP00000004980:A492V;ENSP00000394791:A492V;ENSP00000446681:A492V;ENSP00000450076:A492V;ENSP00000447328:A492V	ENSP00000004980:A492V	A	-	2	0	SENP1	46729115	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.550000	0.73905	2.645000	0.89757	0.650000	0.86243	GCA		0.363	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		27	132	0	0	0	1	0	27	132				
TNKS1BP1	85456	broad.mit.edu	37	11	57076040	57076040	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:57076040C>T	ENST00000532437.1	-	5	4456	c.4145G>A	c.(4144-4146)gGc>gAc	p.G1382D	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1382D			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1382	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGACAAGCTGCCATTGTGCCT	0.652																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4144-4146)gGc>gAc		tankyrase 1 binding protein 1, 182kDa							65.0	78.0	74.0					11																	57076040		2201	4295	6496	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076040C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4145G>A	11.37:g.57076040C>T	ENSP00000437271:p.Gly1382Asp					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1382D	p.G1382D			Q9C0C2	TB182_HUMAN			5	4456	-		all_epithelial(135;0.21)	1382			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4145G>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898788	0.52227	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32272	1.46;1.46	5.08	-0.493	0.12038	.	1.314310	0.05246	N	0.513042	T	0.13628	0.0330	N	0.05534	-0.03	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.23226	-1.0194	10	0.26408	T	0.33	-4.5753	1.8212	0.03111	0.2672:0.43:0.1312:0.1716	.	1382	Q9C0C2	TB182_HUMAN	D	1382	ENSP00000350990:G1382D;ENSP00000437271:G1382D	ENSP00000350990:G1382D	G	-	2	0	TNKS1BP1	56832616	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	0.153000	0.16323	0.179000	0.19938	0.462000	0.41574	GGC		0.652	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		4	185	0	0	0	1	0	4	185				
PXDN	7837	broad.mit.edu	37	2	1677555	1677555	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:1677555C>T	ENST00000252804.4	-	9	928	c.878G>A	c.(877-879)cGc>cAc	p.R293H	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	293	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAAGTTTAGGCGGGAATCTGT	0.507																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(877-879)cGc>cAc		peroxidasin homolog (Drosophila)							124.0	126.0	125.0					2																	1677555		2055	4200	6255	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1677555C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.878G>A	2.37:g.1677555C>T	ENSP00000252804:p.Arg293His					PXDN_ENST00000483018.1_5'UTR	p.R293H	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	9	928	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	293			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.878G>A	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.356500|4.356500	0.82243|0.82243	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.51574	.|0.7	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.056903	.|0.64402	.|D	.|0.000001	T|T	0.65637|0.65637	0.2710|0.2710	L|L	0.57536|0.57536	1.79|1.79	0.58432|0.58432	D|D	0.999998|0.999998	.|D;P	.|0.76494	.|0.999;0.58	.|D;B	.|0.70016	.|0.967;0.187	T|T	0.68078|0.68078	-0.5504|-0.5504	5|10	.|0.87932	.|D	.|0	-30.6332|-30.6332	17.3575|17.3575	0.87341|0.87341	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|293;293	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	T|H	289|293	.|ENSP00000252804:R293H	.|ENSP00000252804:R293H	A|R	-|-	1|2	0|0	PXDN|PXDN	1656562|1656562	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.525000|0.525000	0.34531|0.34531	7.683000|7.683000	0.84093|0.84093	2.583000|2.583000	0.87209|0.87209	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.507	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		89	292	0	0	0	1	0	89	292				
AFF2	2334	broad.mit.edu	37	X	147743694	147743694	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:147743694T>A	ENST00000370460.2	+	3	925	c.446T>A	c.(445-447)aTa>aAa	p.I149K	AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000342251.3_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	149					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACTCTAATACACAGCAAC	0.453																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(445-447)aTa>aAa		AF4/FMR2 family, member 2							189.0	183.0	185.0					X																	147743694		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743694T>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.446T>A	X.37:g.147743694T>A	ENSP00000359489:p.Ile149Lys					AFF2_ENST00000342251.3_Missense_Mutation_p.I145K|AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K	p.I149K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			3	925	+	Acute lymphoblastic leukemia(192;6.56e-05)		149					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.446T>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750251	0.49257	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.31	5.31	0.75309	.	0.271177	0.37483	N	0.002072	T	0.62792	0.2457	N	0.19112	0.55	0.80722	D	1	P;P;P;D;D;P	0.67145	0.949;0.949;0.949;0.995;0.996;0.839	P;P;P;D;D;B	0.78314	0.498;0.498;0.498;0.984;0.991;0.395	T	0.62296	-0.6884	10	0.33940	T	0.23	.	9.2095	0.37309	0.0:0.0824:0.0:0.9176	.	149;145;145;145;149;145	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	K	149;145;145;145	ENSP00000359489:I149K;ENSP00000359486:I145K;ENSP00000345459:I145K;ENSP00000359487:I145K	ENSP00000345459:I145K	I	+	2	0	AFF2	147551386	1.000000	0.71417	0.928000	0.36995	0.856000	0.48823	4.170000	0.58229	1.891000	0.54761	0.486000	0.48141	ATA		0.453	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		7	466	0	0	0	1	0	7	466				
BDH1	622	broad.mit.edu	37	3	197238941	197238941	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:197238941G>A	ENST00000392378.2	-	7	1167	c.857C>T	c.(856-858)aCc>aTc	p.T286I	BDH1_ENST00000392379.1_Missense_Mutation_p.T286I|BDH1_ENST00000358186.2_Missense_Mutation_p.T286I|BDH1_ENST00000441275.1_Missense_Mutation_p.T199I	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	286					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		GCTGCAGTAGGTCTCCATCTT	0.582																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(856-858)aCc>aTc		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						196.0	165.0	175.0					3																	197238941		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238941G>A	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.857C>T	3.37:g.197238941G>A	ENSP00000376183:p.Thr286Ile					BDH1_ENST00000441275.1_Missense_Mutation_p.T199I|BDH1_ENST00000392378.2_Missense_Mutation_p.T286I|BDH1_ENST00000358186.2_Missense_Mutation_p.T286I	p.T286I	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	8	1258	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	286					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.857C>T	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215545	0.39102	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.85	-1.21	0.09524	NAD(P)-binding domain (1);	0.551411	0.21865	N	0.067969	D	0.84933	0.5582	L	0.38175	1.15	0.37796	D	0.927537	B	0.12013	0.005	B	0.12156	0.007	T	0.71384	-0.4609	10	0.29301	T	0.29	.	10.2852	0.43562	0.0:0.284:0.3221:0.3939	.	286	Q02338	BDH_HUMAN	I	286;286;286;199	ENSP00000376183:T286I;ENSP00000350914:T286I;ENSP00000376184:T286I;ENSP00000411014:T199I	ENSP00000350914:T286I	T	-	2	0	BDH1	198723338	1.000000	0.71417	0.888000	0.34837	0.855000	0.48748	1.741000	0.38238	-0.360000	0.08138	-0.169000	0.13324	ACC		0.582	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		85	539	0	0	0	1	0	85	539				
AP1M1	8907	broad.mit.edu	37	19	16317206	16317206	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:16317206A>T	ENST00000291439.3	+	3	703	c.254A>T	c.(253-255)tAt>tTt	p.Y85F	AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y85F|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Missense_Mutation_p.Y85F	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	85					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						TCTTTCCTCTATAAGGTGGTG	0.592																																						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.(253-255)tAt>tTt		adaptor-related protein complex 1, mu 1 subunit							305.0	285.0	292.0					19																	16317206		2203	4300	6503	SO:0001583	missense	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.chr19:16317206A>T		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.254A>T	19.37:g.16317206A>T	ENSP00000291439:p.Tyr85Phe					AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Missense_Mutation_p.Y85F|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y85F|AP1M1_ENST00000541844.1_Intron	p.Y85F	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			3	703	+			85					Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	c.254A>T	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615852	0.46631	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	T;T;T	0.64803	0.47;0.48;-0.12	4.1	4.1	0.47936	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	M	0.81802	2.56	0.80722	D	1	B;P;P	0.50710	0.014;0.937;0.938	B;P;P	0.61003	0.049;0.799;0.882	T	0.78298	-0.2258	10	0.52906	T	0.07	-18.4241	11.9469	0.52934	1.0:0.0:0.0:0.0	.	85;85;85	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	F	85	ENSP00000388996:Y85F;ENSP00000291439:Y85F;ENSP00000411498:Y85F	ENSP00000291439:Y85F	Y	+	2	0	AP1M1	16178206	1.000000	0.71417	0.902000	0.35471	0.518000	0.34316	8.716000	0.91420	1.511000	0.48818	0.533000	0.62120	TAT		0.592	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		7	784	0	0	0	1	0	7	784				
EXTL2	2135	broad.mit.edu	37	1	101339500	101339500	+	Nonstop_Mutation	SNP	A	A	T	rs372520087		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:101339500A>T	ENST00000370114.3	-	5	2427	c.991T>A	c.(991-993)Taa>Aaa	p.*331K	EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K|EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	0					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTACTTTTATATTTTTCTT	0.303																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(991-993)Taa>Aaa		exostosin-like glycosyltransferase 2							42.0	47.0	45.0					1																	101339500		2197	4290	6487	SO:0001578	stop_lost	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339500A>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.991T>A	1.37:g.101339500A>T						EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K	p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2427	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	0					B2R795|D3DT60	Nonstop_Mutation	SNP	ENST00000370114.3	37	c.991T>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760436	0.49468	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6278	0.76874	1.0:0.0:0.0:0.0	.	.	.	.	K	331;331;318	.	.	X	-	1	0	EXTL2	101112088	1.000000	0.71417	0.915000	0.36163	0.555000	0.35460	7.681000	0.84073	2.280000	0.76307	0.460000	0.39030	TAA		0.303	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		3	51	0	0	0	1	0	3	51				
ASH1L	55870	broad.mit.edu	37	1	155314033	155314033	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:155314033G>A	ENST00000368346.3	-	22	8576	c.7937C>T	c.(7936-7938)gCc>gTc	p.A2646V	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.A2641V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2646					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCCAGGTTGGGCATAGTGGGG	0.483																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(7936-7938)gCc>gTc		ash1 (absent, small, or homeotic)-like (Drosophila)							122.0	113.0	116.0					1																	155314033		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155314033G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7937C>T	1.37:g.155314033G>A	ENSP00000357330:p.Ala2646Val					ASH1L_ENST00000392403.3_Missense_Mutation_p.A2641V	p.A2646V			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		22	8576	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2646					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7937C>T		.	.	.	.	.	.	.	.	.	.	G	26.5	4.740374	0.89573	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89270	-2.49;-2.49	5.21	5.21	0.72293	Zinc finger, FYVE/PHD-type (1);	0.097222	0.64402	D	0.000001	D	0.86293	0.5898	L	0.59436	1.845	0.80722	D	1	P;P	0.42456	0.673;0.78	B;B	0.42214	0.211;0.38	D	0.88483	0.3070	10	0.72032	D	0.01	.	18.5454	0.91044	0.0:0.0:1.0:0.0	.	2646;2641	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	2646;2641	ENSP00000357330:A2646V;ENSP00000376204:A2641V	ENSP00000357330:A2646V	A	-	2	0	ASH1L	153580657	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.594000	0.98254	2.716000	0.92895	0.561000	0.74099	GCC		0.483	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		4	278	0	0	0	1	0	4	278				
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e6-1		solute carrier family 26 (anion exchanger), member 4							211.0	198.0	202.0					7																	107315388		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315388A>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.601-1A>T	7.37:g.107315388A>T								NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			6	824	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37		CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797617	0.70567	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107102624	1.000000	0.71417	0.995000	0.50966	0.749000	0.42624	8.456000	0.90359	2.135000	0.66039	0.528000	0.53228	.		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	8	385	0	0	0	1	0	8	385				
ABCA4	24	broad.mit.edu	37	1	94526317	94526317	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:94526317T>A	ENST00000370225.3	-	14	2024		c.e14-2		ABCA4_ENST00000535735.1_Splice_Site	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATCATGAAACTAAAGCAAAAG	0.443																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CS983389	ABCA4	S		c.e14-2		ATP-binding cassette, sub-family A (ABC1), member 4							69.0	55.0	60.0					1																	94526317		2203	4300	6503	SO:0001630	splice_region_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94526317T>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1938-2A>T	1.37:g.94526317T>A						ABCA4_ENST00000535735.1_Splice_Site		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	14	2024	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)						O15112|O60438|O60915|Q0QD48|Q4LE31	Splice_Site	SNP	ENST00000370225.3	37		CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170595	0.78452	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2824	0.82697	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA4	94298905	0.996000	0.38824	0.999000	0.59377	0.902000	0.53008	4.975000	0.63777	2.250000	0.74265	0.533000	0.62120	.		0.443	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	Intron	7	96	0	0	0	1	0	7	96				
NUP155	9631	broad.mit.edu	37	5	37304947	37304947	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:37304947T>A	ENST00000231498.3	-	27	3261		c.e27-2		NUP155_ENST00000381843.2_Splice_Site|NUP155_ENST00000513532.1_Splice_Site|NUP155_ENST00000502533.1_Splice_Site	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa						atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|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)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGTTCAAACTAAAATAAAGA	0.358																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.e27-2		nucleoporin 155kDa							72.0	73.0	73.0					5																	37304947		2203	4300	6503	SO:0001630	splice_region_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37304947T>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3058-2A>T	5.37:g.37304947T>A						NUP155_ENST00000502533.1_Splice_Site|NUP155_ENST00000513532.1_Splice_Site|NUP155_ENST00000381843.2_Splice_Site		NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		27	3261	-	all_lung(31;0.000137)							Q9UBE9|Q9UFL5	Splice_Site	SNP	ENST00000231498.3	37		CCDS3921.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578110	0.86645	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6762	0.77326	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP155	37340704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.638000	0.83328	2.102000	0.63906	0.533000	0.62120	.		0.358	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298	Intron	7	71	0	0	0	1	0	7	71				
PCDHA4	56144	broad.mit.edu	37	5	140188110	140188110	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:140188110T>C	ENST00000530339.1	+	1	1338	c.1338T>C	c.(1336-1338)gcT>gcC	p.A446A	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.A446A|PCDHA4_ENST00000356878.4_Silent_p.A446A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	446	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGGCTGATGTGAACG	0.637																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1336-1338)gcT>gcC									86.0	87.0	87.0					5																	140188110		2203	4300	6503	SO:0001819	synonymous_variant	56144							g.chr5:140188110T>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1338T>C	5.37:g.140188110T>C						PCDHA4_ENST00000356878.4_Silent_p.A446A|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.A446A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A446A	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1338	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1338T>C	CCDS54916.1																																																																																				0.637	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		17	193	0	0	0	1	0	17	193				
CYP1A1	1543	broad.mit.edu	37	15	75013623	75013623	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:75013623G>C	ENST00000379727.3	-	5	1281	c.1083C>G	c.(1081-1083)gaC>gaG	p.D361E	CYP1A1_ENST00000395049.4_Missense_Mutation_p.D361E|CYP1A1_ENST00000567032.1_Missense_Mutation_p.D361E|CYP1A1_ENST00000395048.2_Missense_Mutation_p.D361E|CYP1A1_ENST00000564596.1_Missense_Mutation_p.D100E			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	361					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GATGGGATCTGTCAGAGAGCC	0.612									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1081-1083)gaC>gaG		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						78.0	80.0	79.0					15																	75013623		2197	4296	6493	SO:0001583	missense	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013623G>C	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1083C>G	15.37:g.75013623G>C	ENSP00000369050:p.Asp361Glu					CYP1A1_ENST00000567032.1_Missense_Mutation_p.D361E|CYP1A1_ENST00000395048.2_Missense_Mutation_p.D361E|CYP1A1_ENST00000564596.1_Missense_Mutation_p.D100E|CYP1A1_ENST00000395049.4_Missense_Mutation_p.D361E	p.D361E			P04798	CP1A1_HUMAN			5	1281	-			361					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.1083C>G	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.095945	0.36952	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.72282	-0.64;-0.64;-0.64	5.17	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	H	0.94183	3.505	0.80722	D	1	D;B	0.61697	0.99;0.427	D;P	0.63957	0.92;0.491	D	0.88455	0.3051	10	0.87932	D	0	.	10.8429	0.46726	0.1514:0.0:0.8486:0.0	.	361;361	E7EMT5;P04798	.;CP1A1_HUMAN	E	361;361;361;333	ENSP00000369050:D361E;ENSP00000378488:D361E;ENSP00000378489:D361E	ENSP00000268062:D333E	D	-	3	2	CYP1A1	72800676	1.000000	0.71417	0.948000	0.38648	0.099000	0.18886	2.893000	0.48633	1.193000	0.43086	-0.136000	0.14681	GAC		0.612	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		29	105	0	0	0	1	0	29	105				
ACBD6	84320	broad.mit.edu	37	1	180366742	180366742	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:180366742T>A	ENST00000367595.3	-	6	1261		c.e6-2		ACBD6_ENST00000475338.2_Splice_Site	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6							cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						AGCCCTACCCTAAAAACACAG	0.373																																						ENST00000367595.3																		ACBD6/RRP15(2)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						c.e6-2		acyl-CoA binding domain containing 6							113.0	116.0	115.0					1																	180366742		2203	4300	6503	SO:0001630	splice_region_variant	84320					cytoplasm|nucleus	fatty-acyl-CoA binding	g.chr1:180366742T>A	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.574-2A>T	1.37:g.180366742T>A						ACBD6_ENST00000475338.2_Splice_Site		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN			6	1261	-									Splice_Site	SNP	ENST00000367595.3	37		CCDS1339.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993477	0.74703	.	.	ENSG00000135847	ENST00000367595	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.425	0.67210	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACBD6	178633365	1.000000	0.71417	0.932000	0.37286	0.823000	0.46562	3.512000	0.53407	2.236000	0.73375	0.482000	0.46254	.		0.373	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360	Intron	5	228	0	0	0	1	0	5	228				
ZNF445	353274	broad.mit.edu	37	3	44488853	44488853	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:44488853G>A	ENST00000396077.2	-	8	2657	c.2310C>T	c.(2308-2310)gcC>gcT	p.A770A	ZNF445_ENST00000425708.2_Silent_p.A770A	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	770					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GATTGCGGAAGGCCTTGCCAC	0.527																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(2308-2310)gcC>gcT		zinc finger protein 445							67.0	66.0	67.0					3																	44488853		2203	4300	6503	SO:0001819	synonymous_variant	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488853G>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2310C>T	3.37:g.44488853G>A						ZNF445_ENST00000396077.2_Silent_p.A770A	p.A770A			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	2651	-			770					Q3MJD1	Silent	SNP	ENST00000396077.2	37	c.2310C>T	CCDS2713.1																																																																																				0.527	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		12	28	0	0	0	1	0	12	28				
LRRIQ1	84125	broad.mit.edu	37	12	85546098	85546098	+	Missense_Mutation	SNP	G	G	A	rs532186985	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:85546098G>A	ENST00000393217.2	+	20	4431	c.4370G>A	c.(4369-4371)cGc>cAc	p.R1457H		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1457										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATTCCACCCGCTTCCCTTCA	0.378													G|||	2	0.000399361	0.0	0.0	5008	,	,		15792	0.0		0.001	False		,,,				2504	0.001					ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4369-4371)cGc>cAc		leucine-rich repeats and IQ motif containing 1							141.0	134.0	136.0					12																	85546098		1890	4109	5999	SO:0001583	missense	84125							g.chr12:85546098G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4370G>A	12.37:g.85546098G>A	ENSP00000376910:p.Arg1457His						p.R1457H	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	20	4431	+			1457					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4370G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709676	0.48517	.	.	ENSG00000133640	ENST00000393217	T	0.51817	0.69	5.22	1.82	0.25136	.	.	.	.	.	T	0.25827	0.0629	N	0.14661	0.345	0.21355	N	0.999716	B	0.26547	0.152	B	0.14023	0.01	T	0.13335	-1.0513	9	0.35671	T	0.21	.	6.0222	0.19634	0.3169:0.1473:0.5358:0.0	.	1457	Q96JM4	LRIQ1_HUMAN	H	1457	ENSP00000376910:R1457H	ENSP00000376910:R1457H	R	+	2	0	LRRIQ1	84070229	0.842000	0.29525	0.991000	0.47740	0.960000	0.62799	1.063000	0.30567	0.583000	0.29574	0.586000	0.80456	CGC		0.378	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		24	102	0	0	0	1	0	24	102				
OR10H2	26538	broad.mit.edu	37	19	15839646	15839646	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:15839646G>T	ENST00000305899.3	+	1	813	c.793G>T	c.(793-795)Ggt>Tgt	p.G265C		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CAAGCCCAAAGGTCCCCACTC	0.552																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(793-795)Ggt>Tgt		olfactory receptor, family 10, subfamily H, member 2							163.0	129.0	141.0					19																	15839646		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839646G>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.793G>T	19.37:g.15839646G>T	ENSP00000306095:p.Gly265Cys						p.G265C	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	813	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		265					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.793G>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.723837	0.30593	.	.	ENSG00000171942	ENST00000305899	T	0.00099	8.73	3.39	0.956	0.19608	GPCR, rhodopsin-like superfamily (1);	0.467363	0.17861	N	0.159533	T	0.00271	0.0008	L	0.49778	1.585	0.09310	N	1	D	0.65815	0.995	D	0.67900	0.954	T	0.50659	-0.8802	10	0.87932	D	0	.	5.0401	0.14454	0.1234:0.0:0.6716:0.205	.	265	O60403	O10H2_HUMAN	C	265	ENSP00000306095:G265C	ENSP00000306095:G265C	G	+	1	0	OR10H2	15700646	0.000000	0.05858	0.176000	0.23000	0.568000	0.35870	-1.091000	0.03369	0.416000	0.25844	0.531000	0.56144	GGT		0.552	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			5	546	1	0	0.00116845	1	0.00119936	5	546				
PPWD1	23398	broad.mit.edu	37	5	64867889	64867889	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:64867889T>C	ENST00000261308.5	+	5	817	c.745T>C	c.(745-747)Tac>Cac	p.Y249H	PPWD1_ENST00000535264.1_Missense_Mutation_p.Y219H|PPWD1_ENST00000538977.1_Missense_Mutation_p.Y93H	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	249					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GATGATTGAATACTGGACTGG	0.373																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(745-747)Tac>Cac		peptidylprolyl isomerase domain and WD repeat containing 1							82.0	86.0	84.0					5																	64867889		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64867889T>C	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.745T>C	5.37:g.64867889T>C	ENSP00000261308:p.Tyr249His					PPWD1_ENST00000538977.1_Missense_Mutation_p.Y93H|PPWD1_ENST00000535264.1_Missense_Mutation_p.Y219H	p.Y249H	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	5	817	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	249					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.745T>C	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030171	0.75504	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.63096	-0.02;-0.02;5.02;-0.02	5.83	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.054065	0.85682	N	0.000000	T	0.81479	0.4831	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.84108	0.0399	10	0.87932	D	0	.	11.5754	0.50858	0.0:0.0694:0.0:0.9306	.	219;249	F5H7P7;Q96BP3	.;PPWD1_HUMAN	H	249;219;93;168	ENSP00000261308:Y249H;ENSP00000442371:Y219H;ENSP00000444496:Y93H;ENSP00000423234:Y168H	ENSP00000261308:Y249H	Y	+	1	0	PPWD1	64903645	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	7.979000	0.88103	1.043000	0.40175	0.402000	0.26972	TAC		0.373	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		24	95	0	0	0	1	0	24	95				
FMO1	2326	broad.mit.edu	37	1	171244561	171244561	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:171244561A>C	ENST00000354841.4	+	3	529	c.398A>C	c.(397-399)gAg>gCg	p.E133A	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.E133A|FMO1_ENST00000402921.2_Missense_Mutation_p.E70A	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	133					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)	ATGCATGAAGAGAAGCAAGAG	0.433																																						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.(397-399)gAg>gCg		flavin containing monooxygenase 1							171.0	157.0	162.0					1																	171244561		2203	4300	6503	SO:0001583	missense	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.chr1:171244561A>C	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.398A>C	1.37:g.171244561A>C	ENSP00000346901:p.Glu133Ala					FMO1_ENST00000367750.3_Missense_Mutation_p.E133A|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.E70A	p.E133A			Q01740	FMO1_HUMAN			3	529	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		133					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.398A>C	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.191759	0.38707	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.36	4.44	0.53790	.	0.053294	0.85682	D	0.000000	T	0.19248	0.0462	N	0.05510	-0.035	0.38894	D	0.957173	B;B;B	0.19073	0.002;0.008;0.033	B;B;B	0.24155	0.001;0.051;0.033	T	0.10154	-1.0642	10	0.62326	D	0.03	-3.4659	12.5773	0.56371	0.0838:0.0:0.9162:0.0	.	70;133;133	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	A	133;133;70;133	ENSP00000356724:E133A;ENSP00000406982:E133A;ENSP00000385543:E70A;ENSP00000346901:E133A	ENSP00000346901:E133A	E	+	2	0	FMO1	169511185	1.000000	0.71417	0.999000	0.59377	0.253000	0.25986	3.127000	0.50484	1.352000	0.45808	-0.479000	0.04858	GAG		0.433	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		59	300	0	0	0	1	0	59	300				
TRIM29	23650	broad.mit.edu	37	11	119983152	119983152	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:119983152G>A	ENST00000341846.5	-	9	2158	c.1737C>T	c.(1735-1737)ggC>ggT	p.G579G	TRIM29_ENST00000541857.1_Silent_p.G312G|TRIM29_ENST00000528870.1_Silent_p.G112G|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000524816.3_Silent_p.G145G|TRIM29_ENST00000529044.1_Silent_p.G318G	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	579					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CAATCCCGTTGCCTTTGTTGA	0.587																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(1735-1737)ggC>ggT		tripartite motif containing 29							176.0	138.0	151.0					11																	119983152		2199	4295	6494	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119983152G>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1737C>T	11.37:g.119983152G>A						TRIM29_ENST00000541857.1_Silent_p.G312G|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000528870.1_Silent_p.G112G|TRIM29_ENST00000529044.1_Silent_p.G318G|TRIM29_ENST00000524816.3_Silent_p.G145G	p.G579G	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	9	2158	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	579					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.1737C>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408706	0.25378	.	.	ENSG00000137699	ENST00000525327	.	.	.	5.09	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2524	0.49034	0.0862:0.0:0.9138:0.0	.	.	.	.	X	172	.	.	Q	-	1	0	TRIM29	119488362	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	4.146000	0.58072	2.367000	0.80283	0.561000	0.74099	CAA		0.587	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		8	253	0	0	0	1	0	8	253				
MUC16	94025	broad.mit.edu	37	19	9071380	9071380	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:9071380G>C	ENST00000397910.4	-	3	16269	c.16066C>G	c.(16066-16068)Cag>Gag	p.Q5356E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5358	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						GGGATGCTCTGTGGTGATGTG	0.522																																						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.(16066-16068)Cag>Gag		mucin 16, cell surface associated							143.0	143.0	143.0					19																	9071380		2067	4210	6277	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071380G>C	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.16066C>G	19.37:g.9071380G>C	ENSP00000381008:p.Gln5356Glu						p.Q5356E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16269	-			5358			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16066C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.607	-0.291557	0.05568	.	.	ENSG00000181143	ENST00000397910	T	0.19250	2.16	2.12	-0.226	0.13106	.	.	.	.	.	T	0.09113	0.0225	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.23904	-1.0175	8	0.87932	D	0	.	3.1189	0.06385	0.0:0.474:0.2276:0.2983	.	5356	B5ME49	.	E	5356	ENSP00000381008:Q5356E	ENSP00000381008:Q5356E	Q	-	1	0	MUC16	8932380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.404000	0.07205	-0.259000	0.09432	-0.647000	0.03941	CAG		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	625	0	0	0	1	0	4	625				
THSD4	79875	broad.mit.edu	37	15	72069615	72069615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:72069615C>T	ENST00000355327.3	+	18	3093	c.2959C>T	c.(2959-2961)Cag>Tag	p.Q987*	THSD4_ENST00000261862.6_Nonsense_Mutation_p.Q987*|THSD4_ENST00000357769.4_Nonsense_Mutation_p.Q627*			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	987	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGTGGTGGTCCAGGCAAGACT	0.542																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2959-2961)Cag>Tag		thrombospondin, type I, domain containing 4							103.0	105.0	104.0					15																	72069615		2113	4230	6343	SO:0001587	stop_gained	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72069615C>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2959C>T	15.37:g.72069615C>T	ENSP00000347484:p.Gln987*					THSD4_ENST00000261862.6_Nonsense_Mutation_p.Q987*|THSD4_ENST00000357769.4_Nonsense_Mutation_p.Q627*	p.Q987*			Q6ZMP0	THSD4_HUMAN			18	3093	+			987			PLAC.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Nonsense_Mutation	SNP	ENST00000355327.3	37	c.2959C>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	41	8.641644	0.98897	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	15.4645	0.75387	0.0:1.0:0.0:0.0	.	.	.	.	X	987;987;627	.	ENSP00000261862:Q987X	Q	+	1	0	THSD4	69856669	1.000000	0.71417	0.973000	0.42090	0.971000	0.66376	7.649000	0.83500	2.238000	0.73509	0.655000	0.94253	CAG		0.542	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		24	437	0	0	0	1	0	24	437				
RHCG	51458	broad.mit.edu	37	15	90039695	90039695	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:90039695C>T	ENST00000268122.4	-	1	149	c.81G>A	c.(79-81)ggG>ggA	p.G27G	RHCG_ENST00000544600.1_Silent_p.G27G	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	27					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GCACGAACACCCCGAAGAGAA	0.607																																						ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(79-81)ggG>ggA		Rh family, C glycoprotein							122.0	111.0	115.0					15																	90039695		2200	4299	6499	SO:0001819	synonymous_variant	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90039695C>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.81G>A	15.37:g.90039695C>T						RHCG_ENST00000544600.1_Silent_p.G27G	p.G27G	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			1	149	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		27					A8K4D4|Q6X3Y4	Silent	SNP	ENST00000268122.4	37	c.81G>A	CCDS10351.1																																																																																				0.607	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		47	254	0	0	0	1	0	47	254				
KMT2C	58508	broad.mit.edu	37	7	151874941	151874941	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:151874941T>G	ENST00000262189.6	-	38	7815	c.7597A>C	c.(7597-7599)Aat>Cat	p.N2533H	KMT2C_ENST00000355193.2_Missense_Mutation_p.N2533H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2533	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCAACTGGATTATTCATTTGT	0.443																																						ENST00000355193.2																			0											c.(7597-7599)Aat>Cat		lysine (K)-specific methyltransferase 2C							127.0	131.0	129.0					7																	151874941		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151874941T>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7597A>C	7.37:g.151874941T>G	ENSP00000262189:p.Asn2533His					KMT2C_ENST00000262189.6_Missense_Mutation_p.N2533H	p.N2533H							38	7815	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.7597A>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.72|11.72	1.723893|1.723893	0.30593|0.30593	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.84589|.	-1.87;-1.87|.	5.48|5.48	3.05|3.05	0.35203|0.35203	.|.	0.129457|.	0.34088|.	N|.	0.004270|.	T|.	0.60405|.	0.2266|.	M|M	0.62723|0.62723	1.935|1.935	0.54753|0.54753	D|D	0.999982|0.999982	D;D;D|.	0.76494|.	0.994;0.999;0.999|.	P;D;D|.	0.73380|.	0.832;0.952;0.98|.	T|.	0.54309|.	-0.8313|.	10|.	0.41790|.	T|.	0.15|.	.|.	7.8768|7.8768	0.29599|0.29599	0.0:0.0713:0.1389:0.7898|0.0:0.0713:0.1389:0.7898	.|.	2533;1594;2533|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	H|S	2533|38	ENSP00000262189:N2533H;ENSP00000347325:N2533H|.	ENSP00000262189:N2533H|.	N|X	-|-	1|2	0|2	MLL3|MLL3	151505874|151505874	1.000000|1.000000	0.71417|0.71417	0.012000|0.012000	0.15200|0.15200	0.891000|0.891000	0.51852|0.51852	3.730000|3.730000	0.55006|0.55006	0.376000|0.376000	0.24707|0.24707	0.529000|0.529000	0.55759|0.55759	AAT|TAA		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	131	0	0	0	1	0	4	131				
WARS2	10352	broad.mit.edu	37	1	119576009	119576009	+	Intron	SNP	T	T	A	rs572880016	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:119576009T>A	ENST00000235521.4	-	6	661				WARS2_ENST00000369426.5_Missense_Mutation_p.M213L|WARS2_ENST00000537870.1_Intron	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AACACACACATACCCAAAACA	0.393																																						ENST00000369426.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(637-639)Atg>Ttg		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						115.0	117.0	116.0					1																	119576009		2203	4300	6503	SO:0001627	intron_variant	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119576009T>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.635-27A>T	1.37:g.119576009T>A						WARS2_ENST00000537870.1_Intron|WARS2_ENST00000235521.4_Intron	p.M213L			Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	640	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	0					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.637A>T	CCDS900.1	.	.	.	.	.	.	.	.	.	.	T	7.236	0.600310	0.13939	.	.	ENSG00000116874	ENST00000369426	T	0.40225	1.04	3.78	-7.56	0.01322	.	.	.	.	.	T	0.10035	0.0246	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.20874	-1.0262	9	0.56958	D	0.05	.	16.7624	0.85515	0.0:0.1518:0.0:0.8482	.	213	B1ALR1	.	L	213	ENSP00000358434:M213L	ENSP00000358434:M213L	M	-	1	0	WARS2	119377532	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.196000	0.17176	-2.502000	0.00509	-0.969000	0.02612	ATG		0.393	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		6	355	0	0	0	1	0	6	355				
OR51I2	390064	broad.mit.edu	37	11	5475319	5475319	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:5475319T>C	ENST00000341449.2	+	1	682	c.601T>C	c.(601-603)Ttt>Ctt	p.F201L	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	201					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATGGACTCTTTGTTCTTGT	0.473																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(601-603)Ttt>Ctt		olfactory receptor, family 51, subfamily I, member 2							380.0	320.0	340.0					11																	5475319		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475319T>C	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.601T>C	11.37:g.5475319T>C	ENSP00000341987:p.Phe201Leu					AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.F201L	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	682	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	201					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.601T>C	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463044	0.43736	.	.	ENSG00000187918	ENST00000341449	T	0.00123	8.7	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.092151	0.48767	D	0.000171	T	0.00210	0.0006	M	0.65320	2	0.31294	N	0.689077	P	0.35192	0.489	B	0.39379	0.298	T	0.57021	-0.7882	10	0.25751	T	0.34	.	14.7227	0.69320	0.0:0.0:0.0:1.0	.	201	Q9H344	O51I2_HUMAN	L	201	ENSP00000341987:F201L	ENSP00000341987:F201L	F	+	1	0	OR51I2	5431895	0.000000	0.05858	1.000000	0.80357	0.634000	0.38068	0.294000	0.19047	2.343000	0.79666	0.533000	0.62120	TTT		0.473	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		4	444	0	0	0	1	0	4	444				
TMEM217	221468	broad.mit.edu	37	6	37186648	37186648	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:37186648A>T	ENST00000336655.2	-	2	198	c.159T>A	c.(157-159)agT>agA	p.S53R	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.S53R	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	53						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TTATGATGTTACTTGCACCCC	0.443																																						ENST00000336655.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(157-159)agT>agA		transmembrane protein 217							298.0	273.0	282.0					6																	37186648		2203	4300	6503	SO:0001583	missense	221468					integral to membrane		g.chr6:37186648A>T		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.159T>A	6.37:g.37186648A>T	ENSP00000338164:p.Ser53Arg					TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.S53R	p.S53R	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN			2	198	-			53					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.159T>A	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	A	5.751	0.322975	0.10900	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	4.38	-8.76	0.00830	.	.	.	.	.	T	0.08980	0.0222	L	0.34521	1.04	0.09310	N	1	B;B	0.34241	0.444;0.444	B;B	0.32149	0.141;0.141	T	0.03240	-1.1057	8	0.16896	T	0.51	-0.2671	11.6106	0.51057	0.2201:0.1531:0.6268:0.0	.	53;53	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	R	53	.	ENSP00000338164:S53R	S	-	3	2	TMEM217	37294626	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.807000	0.00361	-2.348000	0.00619	-0.314000	0.08810	AGT		0.443	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		9	1227	0	0	0	1	0	9	1227				
CTNNA2	1496	broad.mit.edu	37	2	80097056	80097056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:80097056C>T	ENST00000402739.4	+	4	585	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000466387.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.Q228*	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	194					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCAAGAAGACAACAGGTGGG	0.403																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(580-582)Caa>Taa		catenin (cadherin-associated protein), alpha 2							107.0	100.0	102.0					2																	80097056		1848	4106	5954	SO:0001587	stop_gained	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80097056C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.580C>T	2.37:g.80097056C>T	ENSP00000384638:p.Gln194*					CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.Q228*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.Q194*	p.Q194*			P26232	CTNA2_HUMAN			9	1304	+			194					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Nonsense_Mutation	SNP	ENST00000402739.4	37	c.580C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.623966	0.98890	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	.	.	.	X	194;194;228;194;194;194	.	ENSP00000355398:Q228X	Q	+	1	0	CTNNA2	79950564	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.498000	0.81546	2.808000	0.96608	0.655000	0.94253	CAA		0.403	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		25	127	0	0	0	1	0	25	127				
ABL1	25	broad.mit.edu	37	9	133753879	133753879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:133753879G>T	ENST00000318560.5	+	8	1729	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	450	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCAGGTGTATGAGCTGCTAGA	0.502			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1348-1350)Gag>Tag		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						173.0	169.0	170.0					9																	133753879		2203	4300	6503	SO:0001587	stop_gained	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133753879G>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1348G>T	9.37:g.133753879G>T	ENSP00000323315:p.Glu450*						p.E450*	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	8	1729	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	450			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Nonsense_Mutation	SNP	ENST00000318560.5	37	c.1348G>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	43	9.902776	0.99292	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	5.16	5.16	0.70880	.	0.051316	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.9943	0.89178	0.0:0.0:1.0:0.0	.	.	.	.	X	265;469;450	.	ENSP00000323315:E450X	E	+	1	0	ABL1	132743700	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.813000	0.99286	2.563000	0.86464	0.655000	0.94253	GAG		0.502	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		8	362	1	0	1.06961e-07	1	1.12774e-07	8	362				
IGSF22	283284	broad.mit.edu	37	11	18736130	18736130	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:18736130C>T	ENST00000513874.1	-	12	1712	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	525								p.A525T(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCAGTGGCCGCGTGCACGTCG	0.612																																						ENST00000513874.1																			2	Substitution - Missense(2)	p.A525T(2)	endometrium(2)	NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1573-1575)Gcg>Acg		immunoglobulin superfamily, member 22							97.0	103.0	101.0					11																	18736130		2125	4236	6361	SO:0001583	missense	283284							g.chr11:18736130C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1573G>A	11.37:g.18736130C>T	ENSP00000421191:p.Ala525Thr					RP11-1081L13.4_ENST00000527285.1_RNA	p.A525T	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			12	1712	-			525					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1573G>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684541	0.47991	.	.	ENSG00000179057	ENST00000513874	T	0.44881	0.91	4.51	2.56	0.30785	.	0.222355	0.22649	N	0.057359	T	0.43500	0.1250	L	0.31926	0.97	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.20638	-1.0269	10	0.25751	T	0.34	.	3.8325	0.08880	0.1725:0.5787:0.156:0.0928	.	525	D6RGV7	.	T	525	ENSP00000421191:A525T	ENSP00000322422:A525T	A	-	1	0	IGSF22	18692706	0.014000	0.17966	0.147000	0.22382	0.477000	0.33069	1.404000	0.34623	0.315000	0.23110	0.551000	0.68910	GCG		0.612	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		40	174	0	0	0	1	0	40	174				
FAM135B	51059	broad.mit.edu	37	8	139151243	139151243	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:139151243A>T	ENST00000395297.1	-	18	4057	c.3887T>A	c.(3886-3888)cTa>cAa	p.L1296Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1296										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTTTGGCTTAGTTGGTAGAG	0.448										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3886-3888)cTa>cAa		family with sequence similarity 135, member B							120.0	116.0	117.0					8																	139151243		1876	4116	5992	SO:0001583	missense	51059							g.chr8:139151243A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3887T>A	8.37:g.139151243A>T	ENSP00000378710:p.Leu1296Gln	HNSCC(54;0.14)					p.L1296Q	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4057	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1296					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3887T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506384	0.85282	.	.	ENSG00000147724	ENST00000395297	T	0.55413	0.52	5.58	5.58	0.84498	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.64402	D	0.000004	T	0.80099	0.4561	H	0.94925	3.6	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.85891	0.1428	10	0.87932	D	0	-11.1049	14.9336	0.70935	1.0:0.0:0.0:0.0	.	1296	Q49AJ0	F135B_HUMAN	Q	1296	ENSP00000378710:L1296Q	ENSP00000378710:L1296Q	L	-	2	0	FAM135B	139220425	1.000000	0.71417	0.630000	0.29268	0.998000	0.95712	9.339000	0.96797	2.136000	0.66102	0.533000	0.62120	CTA		0.448	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		5	175	0	0	0	1	0	5	175				
ZNF543	125919	broad.mit.edu	37	19	57839655	57839655	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:57839655G>A	ENST00000321545.4	+	4	1170	c.825G>A	c.(823-825)cgG>cgA	p.R275R		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCACCAGCGGATTCACAGTG	0.522																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(823-825)cgG>cgA		zinc finger protein 543							56.0	56.0	56.0					19																	57839655		2203	4300	6503	SO:0001819	synonymous_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839655G>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.825G>A	19.37:g.57839655G>A							p.R275R	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1170	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	275					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	ENST00000321545.4	37	c.825G>A	CCDS33130.1																																																																																				0.522	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		23	98	0	0	0	1	0	23	98				
ZDHHC18	84243	broad.mit.edu	37	1	27176851	27176851	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:27176851T>A	ENST00000374142.4	+	4	801	c.706T>A	c.(706-708)Ttc>Atc	p.F236I		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	236					cellular protein localization (GO:0034613)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		GAACTATCGCTTCTTCTACGC	0.577																																						ENST00000374142.3																			0				endometrium(1)|large_intestine(2)	3						c.(706-708)Ttc>Atc		zinc finger, DHHC-type containing 18							193.0	164.0	174.0					1																	27176851		2203	4300	6503	SO:0001583	missense	84243					integral to membrane	zinc ion binding	g.chr1:27176851T>A	AK056427	CCDS30650.1	1p36.11	2008-05-02			ENSG00000204160	ENSG00000204160		"""Zinc fingers, DHHC-type"""	20712	protein-coding gene	gene with protein product							Standard	NM_032283		Approved	DKFZp667O2416	uc001bnb.3	Q9NUE0	OTTHUMG00000004092	ENST00000374142.4:c.706T>A	1.37:g.27176851T>A	ENSP00000363257:p.Phe236Ile						p.F236I	NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)	4	801	+		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	236					A6NHY9|B4DQ84|Q5JYH0|Q9H020	Missense_Mutation	SNP	ENST00000374142.4	37	c.706T>A	CCDS30650.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004653	0.93287	.	.	ENSG00000204160	ENST00000374142;ENST00000374141;ENST00000534643	T;T;T	0.25085	1.82;1.82;1.82	5.05	5.05	0.67936	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.052238	0.85682	D	0.000000	T	0.42426	0.1202	M	0.67625	2.065	0.49687	D	0.999817	P	0.47484	0.896	P	0.53224	0.721	T	0.40942	-0.9536	10	0.87932	D	0	-9.7432	14.9513	0.71077	0.0:0.0:0.0:1.0	.	236	Q9NUE0	ZDH18_HUMAN	I	236;101;101	ENSP00000363257:F236I;ENSP00000363256:F101I;ENSP00000435510:F101I	ENSP00000363256:F101I	F	+	1	0	ZDHHC18	27049438	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.698000	0.68302	2.114000	0.64651	0.459000	0.35465	TTC		0.577	ZDHHC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011706.3	NM_032283		43	174	0	0	0	1	0	43	174				
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:39757017T>A	ENST00000361418.5	-	7	919		c.e7-2		KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000395670.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.e7-2		kinesin family member 21A							95.0	93.0	94.0					12																	39757017		2203	4300	6503	SO:0001630	splice_region_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39757017T>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.904-2A>T	12.37:g.39757017T>A						KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site				Q7Z4S6	KI21A_HUMAN			7	1323	-		Lung NSC(34;0.179)|all_lung(34;0.213)						A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Splice_Site	SNP	ENST00000361418.5	37		CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306185	0.60305	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7019	0.69162	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21A	38043284	1.000000	0.71417	0.991000	0.47740	0.633000	0.38033	3.341000	0.52151	1.880000	0.54463	0.460000	0.39030	.		0.333	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Intron	4	114	0	0	0	1	0	4	114				
ANKH	56172	broad.mit.edu	37	5	14751238	14751238	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:14751238G>A	ENST00000284268.6	-	5	957	c.627C>T	c.(625-627)tgC>tgT	p.C209C	ANKH_ENST00000535119.1_Silent_p.C11C|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	209					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTAGCCCAGGCACAGGGTGG	0.572																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(625-627)tgC>tgT		ANKH inorganic pyrophosphate transport regulator							88.0	81.0	83.0					5																	14751238		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14751238G>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.627C>T	5.37:g.14751238G>A						ANKH_ENST00000535119.1_Silent_p.C11C|ANKH_ENST00000503939.1_5'UTR	p.C209C	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			5	957	-			209					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.627C>T	CCDS3885.1																																																																																				0.572	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		17	135	0	0	0	1	0	17	135				
ZMYM6	9204	broad.mit.edu	37	1	35496172	35496172	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:35496172A>T	ENST00000357182.4	-	2	296	c.69T>A	c.(67-69)atT>atA	p.I23I	ZMYM6_ENST00000373340.2_Silent_p.I23I|ZMYM6_ENST00000317538.5_Silent_p.I23I|ZMYM6_ENST00000487874.1_Silent_p.I23I|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373333.1_Silent_p.I23I	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	23					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTTCTTCTTTAATTTTGTCCA	0.348																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(67-69)atT>atA		zinc finger, MYM-type 6							130.0	129.0	129.0					1																	35496172		2203	4300	6503	SO:0001819	synonymous_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35496172A>T	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.69T>A	1.37:g.35496172A>T						ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373333.1_Silent_p.I23I|ZMYM6_ENST00000317538.5_Silent_p.I23I|ZMYM6_ENST00000373340.2_Silent_p.I23I|ZMYM6_ENST00000487874.1_Silent_p.I23I	p.I23I	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			2	296	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	23					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	c.69T>A	CCDS387.2																																																																																				0.348	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		6	95	0	0	0	1	0	6	95				
R3HDM2	22864	broad.mit.edu	37	12	57677627	57677627	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:57677627G>A	ENST00000347140.3	-	13	1499	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	R3HDM2_ENST00000358907.2_Missense_Mutation_p.A370V|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000413953.2_Missense_Mutation_p.A97V|R3HDM2_ENST00000403821.2_Missense_Mutation_p.A370V|R3HDM2_ENST00000402412.1_Missense_Mutation_p.A384V|R3HDM2_ENST00000441731.2_Missense_Mutation_p.A31V			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	370						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GATCCTTCCCGCACTGCCGCC	0.507																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1150-1152)gCg>gTg		R3H domain containing 2							204.0	185.0	191.0					12																	57677627		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57677627G>A	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1109C>T	12.37:g.57677627G>A	ENSP00000317903:p.Ala370Val					RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_Missense_Mutation_p.A97V|R3HDM2_ENST00000403821.2_Missense_Mutation_p.A370V|R3HDM2_ENST00000441731.2_Missense_Mutation_p.A31V|R3HDM2_ENST00000347140.3_Missense_Mutation_p.A370V|R3HDM2_ENST00000413953.2_Missense_Mutation_p.A97V|R3HDM2_ENST00000358907.2_Missense_Mutation_p.A370V	p.A384V			Q9Y2K5	R3HD2_HUMAN			13	1541	-			370					Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.1151C>T	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195835	0.58126	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000547262	T;T;T;T;T;T;T;T;T	0.45276	0.91;0.9;1.89;1.91;1.89;0.91;1.48;1.85;0.92	4.69	4.69	0.59074	.	0.185491	0.47093	D	0.000241	T	0.34658	0.0905	L	0.27053	0.805	0.38321	D	0.943519	P;P;P;D	0.63046	0.701;0.892;0.955;0.992	B;B;B;P	0.46362	0.06;0.212;0.207;0.514	T	0.13176	-1.0519	10	0.16896	T	0.51	-2.0451	16.5396	0.84382	0.0:0.0:1.0:0.0	.	370;384;370;97	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	V	97;97;370;384;370;31;135;370;240	ENSP00000409146:A97V;ENSP00000377400:A97V;ENSP00000317903:A370V;ENSP00000385839:A384V;ENSP00000351784:A370V;ENSP00000408536:A31V;ENSP00000394676:A135V;ENSP00000385169:A370V;ENSP00000450411:A240V	ENSP00000317903:A370V	A	-	2	0	R3HDM2	55963894	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	2.372000	0.44257	2.438000	0.82558	0.555000	0.69702	GCG		0.507	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		5	782	0	0	0	1	0	5	782				
GALNT18	374378	broad.mit.edu	37	11	11470318	11470318	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:11470318C>A	ENST00000227756.4	-	2	812	c.401G>T	c.(400-402)cGg>cTg	p.R134L		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	134					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGGCAGGGGCCGGTCCAGGGG	0.662																																						ENST00000227756.4																			0											c.(400-402)cGg>cTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							26.0	25.0	25.0					11																	11470318		2183	4270	6453	SO:0001583	missense	374378							g.chr11:11470318C>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.401G>T	11.37:g.11470318C>A	ENSP00000227756:p.Arg134Leu						p.R134L	NM_198516.2	NP_940918.2					2	812	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.401G>T	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654708	0.88056	.	.	ENSG00000110328	ENST00000227756	T	0.68903	-0.36	5.66	4.75	0.60458	.	0.064020	0.64402	D	0.000018	T	0.69842	0.3156	M	0.87971	2.92	0.58432	D	0.999998	P	0.43024	0.798	B	0.37692	0.256	T	0.76526	-0.2927	10	0.87932	D	0	.	13.1866	0.59684	0.0:0.923:0.0:0.077	.	134	Q6P9A2	GLTL4_HUMAN	L	134	ENSP00000227756:R134L	ENSP00000227756:R134L	R	-	2	0	GALNTL4	11426894	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.071000	0.76770	1.397000	0.46682	0.561000	0.74099	CGG		0.662	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		12	43	1	0	6.31663e-08	1	6.69631e-08	12	43				
SF3B6	51639	broad.mit.edu	37	2	24291303	24291303	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:24291303G>C	ENST00000233468.4	-	3	389	c.176C>G	c.(175-177)aCa>aGa	p.T59R		NM_016047.3	NP_057131.1														NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATAAGCTGTTCCTCTAGT	0.383																																						ENST00000233468.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(175-177)aCa>aGa									152.0	138.0	143.0					2																	24291303		2203	4300	6503	SO:0001583	missense	51639				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr2:24291303G>C																												ENST00000233468.4:c.176C>G	2.37:g.24291303G>C	ENSP00000233468:p.Thr59Arg						p.T59R	NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN			3	389	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		59			RRM.			Missense_Mutation	SNP	ENST00000233468.4	37	c.176C>G	CCDS1707.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916293	0.92249	.	.	ENSG00000115128	ENST00000233468	T	0.16457	2.34	5.05	5.05	0.67936	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55522	-0.8128	10	0.87932	D	0	-25.0545	19.279	0.94044	0.0:0.0:1.0:0.0	.	59	Q9Y3B4	PM14_HUMAN	R	59	ENSP00000233468:T59R	ENSP00000233468:T59R	T	-	2	0	AC008073.5	24144807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.762000	0.98944	2.729000	0.93468	0.650000	0.86243	ACA		0.383	SF3B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246826.1			3	266	0	0	0	1	0	3	266				
KCNN3	3782	broad.mit.edu	37	1	154744736	154744736	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:154744736G>A	ENST00000271915.4	-	3	1478	c.1163C>T	c.(1162-1164)gCa>gTa	p.A388V	KCNN3_ENST00000358505.2_Missense_Mutation_p.A75V|KCNN3_ENST00000361147.4_Missense_Mutation_p.A83V	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	393					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGCCAGGCGTGCCGTCCAGAA	0.607																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(1162-1164)gCa>gTa		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							67.0	61.0	63.0					1																	154744736		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154744736G>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1163C>T	1.37:g.154744736G>A	ENSP00000271915:p.Ala388Val					KCNN3_ENST00000361147.4_Missense_Mutation_p.A83V|KCNN3_ENST00000358505.2_Missense_Mutation_p.A75V	p.A388V	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		3	1478	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		393					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.1163C>T	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915320	0.92178	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.98531	-4.98;-3.85;-4.98	4.69	4.69	0.59074	.	0.000000	0.53938	D	0.000044	D	0.98661	0.9551	M	0.70595	2.14	0.58432	D	0.999999	D;D;P	0.76494	0.999;0.993;0.553	D;D;P	0.80764	0.994;0.978;0.559	D	0.99885	1.1121	10	0.87932	D	0	-8.3302	17.4259	0.87526	0.0:0.0:1.0:0.0	.	394;393;83	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	V	83;388;75	ENSP00000354764:A83V;ENSP00000271915:A388V;ENSP00000351295:A75V	ENSP00000271915:A388V	A	-	2	0	KCNN3	153011360	1.000000	0.71417	0.738000	0.30950	0.925000	0.55904	9.652000	0.98499	2.415000	0.81967	0.561000	0.74099	GCA		0.607	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		19	132	0	0	0	1	0	19	132				
PKHD1	5314	broad.mit.edu	37	6	51524031	51524031	+	Silent	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:51524031A>G	ENST00000371117.3	-	61	11168	c.10893T>C	c.(10891-10893)taT>taC	p.Y3631Y		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3631					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.Y3631Y(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAACTCTTCTATAATGACTAG	0.448																																						ENST00000371117.3																			1	Substitution - coding silent(1)	p.Y3631Y(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10891-10893)taT>taC		polycystic kidney and hepatic disease 1 (autosomal recessive)							122.0	121.0	121.0					6																	51524031		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524031A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10893T>C	6.37:g.51524031A>G							p.Y3631Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	11168	-	Lung NSC(77;0.0605)		3631					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10893T>C	CCDS4935.1																																																																																				0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		79	267	0	0	0	1	0	79	267				
FLG	2312	broad.mit.edu	37	1	152281389	152281389	+	Silent	SNP	C	C	T	rs138652718	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:152281389C>T	ENST00000368799.1	-	3	6008	c.5973G>A	c.(5971-5973)gcG>gcA	p.A1991A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1991	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGATGACGCAGCCTGTC	0.572									Ichthyosis				-|||	9	0.00179712	0.0053	0.0029	5008	,	,		29400	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5971-5973)gcG>gcA		filaggrin		C		29,4377	33.5+/-64.1	0,29,2174	584.0	465.0	505.0		5973	-7.1	0.0	1	dbSNP_134	505	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,29,6474	TT,TC,CC		0.0,0.6582,0.223		1991/4062	152281389	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281389C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5973G>A	1.37:g.152281389C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.A1991A	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6008	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1991			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5973G>A	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	1300	0	0	0	1	0	9	1300				
RPRD1B	58490	broad.mit.edu	37	20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	190					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGGAAAATGCCGCATCAGGG	0.413																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(568-570)gCc>gTc		regulation of nuclear pre-mRNA domain containing 1B							108.0	101.0	103.0					20																	36687836		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36687836C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.569C>T	20.37:g.36687836C>T	ENSP00000362532:p.Ala190Val						p.A190V	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			5	971	+			190					Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.569C>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667224	0.96745	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.4	5.4	0.78164	.	0.046127	0.85682	D	0.000000	T	0.71005	0.3289	M	0.68593	2.085	0.80722	D	1	P	0.51653	0.947	P	0.50537	0.643	T	0.74438	-0.3665	9	0.72032	D	0.01	-10.9352	18.3479	0.90328	0.0:1.0:0.0:0.0	.	190	Q9NQG5	RPR1B_HUMAN	V	190;72	.	ENSP00000362532:A190V	A	+	2	0	RPRD1B	36121250	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.651000	0.83577	2.814000	0.96858	0.563000	0.77884	GCC		0.413	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		4	352	0	0	0	1	0	4	352				
EPHB4	2050	broad.mit.edu	37	7	100401094	100401094	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:100401094G>C	ENST00000358173.3	-	17	3421	c.2953C>G	c.(2953-2955)Ccg>Gcg	p.P985A	EPHB4_ENST00000360620.3_Missense_Mutation_p.P933A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	985					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGTACTGCGGGGCCGGTCCT	0.662																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2953-2955)Ccg>Gcg		EPH receptor B4							35.0	37.0	36.0					7																	100401094		2201	4297	6498	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100401094G>C	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2953C>G	7.37:g.100401094G>C	ENSP00000350896:p.Pro985Ala					EPHB4_ENST00000360620.3_Missense_Mutation_p.P933A	p.P985A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			17	3421	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		985					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2953C>G	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998855	0.54147	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.73363	-0.74;-0.69	4.85	4.85	0.62838	.	0.143292	0.32147	N	0.006512	T	0.60715	0.2290	N	0.14661	0.345	0.20074	N	0.999939	B;B	0.12630	0.006;0.002	B;B	0.14023	0.01;0.01	T	0.59166	-0.7505	10	0.87932	D	0	.	15.5311	0.75964	0.0:0.0:1.0:0.0	.	933;985	Q96L35;P54760	.;EPHB4_HUMAN	A	933;985	ENSP00000353833:P933A;ENSP00000350896:P985A	ENSP00000350896:P985A	P	-	1	0	EPHB4	100239030	.	.	0.813000	0.32504	0.106000	0.19336	.	.	2.249000	0.74217	0.456000	0.33151	CCG		0.662	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		7	27	0	0	0	1	0	7	27				
FRZB	2487	broad.mit.edu	37	2	183731161	183731161	+	Silent	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:183731161G>T	ENST00000295113.4	-	1	729	c.120C>A	c.(118-120)atC>atA	p.I40I		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	40	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCACAGGGGGATGCGGACGG	0.672																																						ENST00000295113.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(118-120)atC>atA		frizzled-related protein							52.0	43.0	46.0					2																	183731161		2203	4300	6503	SO:0001819	synonymous_variant	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183731161G>T	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.120C>A	2.37:g.183731161G>T							p.I40I	NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		1	729	-			40			FZ.		O00181|Q99686	Silent	SNP	ENST00000295113.4	37	c.120C>A	CCDS2286.1																																																																																				0.672	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		17	88	1	0	1.62849e-17	1	1.75515e-17	17	88				
ABCA6	23460	broad.mit.edu	37	17	67079118	67079118	+	Silent	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:67079118A>G	ENST00000284425.2	-	36	4686	c.4512T>C	c.(4510-4512)ctT>ctC	p.L1504L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1504	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)					AATCCTTGCCAAGTTTGTTTT	0.398																																						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.(4510-4512)ctT>ctC		ATP-binding cassette, sub-family A (ABC1), member 6							192.0	198.0	196.0					17																	67079118		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67079118A>G	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.4512T>C	17.37:g.67079118A>G						ABCA6_ENST00000446604.2_5'UTR	p.L1504L	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			36	4686	-	Breast(10;5.65e-12)		1504			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.4512T>C	CCDS11683.1																																																																																				0.398	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		4	670	0	0	0	1	0	4	670				
TAS2R19	259294	broad.mit.edu	37	12	11175081	11175081	+	Silent	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:11175081T>A	ENST00000390673.2	-	1	138	c.90A>T	c.(88-90)gtA>gtT	p.V30V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	30					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAATGACATTTACTAGGGCTA	0.408																																						ENST00000390673.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(88-90)gtA>gtT		taste receptor, type 2, member 19							85.0	80.0	82.0					12																	11175081		2203	4300	6503	SO:0001819	synonymous_variant	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11175081T>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.90A>T	12.37:g.11175081T>A						TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.V30V	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	138	-			30					Q3MIJ4|Q645X8	Silent	SNP	ENST00000390673.2	37	c.90A>T	CCDS8640.1																																																																																				0.408	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		5	159	0	0	0	1	0	5	159				
ABCA13	154664	broad.mit.edu	37	7	48411763	48411763	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:48411763A>T	ENST00000435803.1	+	33	10827		c.e33-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTTTTGGTAGTATATGCGG	0.468																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.e33-1		ATP-binding cassette, sub-family A (ABC1), member 13							123.0	114.0	117.0					7																	48411763		1970	4145	6115	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411763A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10804-1A>T	7.37:g.48411763A>T								NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			33	10827	+								K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37		CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100703	0.37048	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5635	0.76269	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48382309	1.000000	0.71417	0.963000	0.40424	0.101000	0.19017	8.023000	0.88764	2.326000	0.78906	0.533000	0.62120	.		0.468	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron	4	107	0	0	0	1	0	4	107				
ZNF107	51427	broad.mit.edu	37	7	64166913	64166913	+	Missense_Mutation	SNP	G	G	C	rs201233350		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:64166913G>C	ENST00000395391.1	+	4	1606	c.231G>C	c.(229-231)caG>caC	p.Q77H	ZNF107_ENST00000423627.1_Missense_Mutation_p.Q77H|ZNF107_ENST00000344930.3_Missense_Mutation_p.Q77H			Q9UII5	ZN107_HUMAN	zinc finger protein 107	77					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.Q77H(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAATATTCCAGTGTAATAAAT	0.333																																						ENST00000395391.1																			1	Substitution - Missense(1)	p.Q77H(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(229-231)caG>caC		zinc finger protein 107							56.0	52.0	53.0					7																	64166913		2203	4300	6503	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64166913G>C	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.231G>C	7.37:g.64166913G>C	ENSP00000378789:p.Gln77His					ZNF107_ENST00000344930.3_Missense_Mutation_p.Q77H|ZNF107_ENST00000423627.1_Missense_Mutation_p.Q77H	p.Q77H			Q9UII5	ZN107_HUMAN			4	1606	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	77						Missense_Mutation	SNP	ENST00000395391.1	37	c.231G>C	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	6.495	0.459614	0.12342	.	.	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T;T	0.36520	4.51;1.25;1.25;1.25	0.916	-1.83	0.07833	.	.	.	.	.	T	0.43656	0.1257	M	0.94142	3.5	0.09310	N	1	B	0.25206	0.12	B	0.23018	0.043	T	0.43196	-0.9406	9	0.59425	D	0.04	.	3.3593	0.07181	0.3596:0.2313:0.4091:0.0	.	77	Q9UII5	ZN107_HUMAN	H	77	ENSP00000353234:Q77H;ENSP00000343443:Q77H;ENSP00000400037:Q77H;ENSP00000378789:Q77H	ENSP00000343443:Q77H	Q	+	3	2	ZNF107	63804348	0.002000	0.14202	0.006000	0.13384	0.006000	0.05464	-1.325000	0.02687	-2.126000	0.00820	-2.125000	0.00346	CAG		0.333	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		7	27	0	0	0	1	0	7	27				
MUC17	140453	broad.mit.edu	37	7	100681981	100681981	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:100681981C>G	ENST00000306151.4	+	3	7348	c.7284C>G	c.(7282-7284)gtC>gtG	p.V2428V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2428	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTGTCACCACTTCTA	0.522																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7282-7284)gtC>gtG		mucin 17, cell surface associated							362.0	354.0	357.0					7																	100681981		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681981C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7284C>G	7.37:g.100681981C>G							p.V2428V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7348	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2428			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7284C>G	CCDS34711.1																																																																																				0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	865	0	0	0	1	0	6	865				
PCDHA3	56145	broad.mit.edu	37	5	140182210	140182210	+	Silent	SNP	G	G	T	rs368335379		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:140182210G>T	ENST00000522353.2	+	1	1428	c.1428G>T	c.(1426-1428)acG>acT	p.T476T	PCDHA3_ENST00000532566.2_Silent_p.T476T|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	476	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGC	0.667																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1426-1428)acG>acT				G	,,,,	0,4406		0,0,2203	84.0	89.0	87.0		,,1428,,1428	-0.5	1.0	5		87	1,8593		0,1,4296	no	intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_031411.1,NM_031497.1	,,,,	0,1,6499	TT,TG,GG		0.0116,0.0,0.0077	,,,,	,,476/951,,476/825	140182210	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	56145							g.chr5:140182210G>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1428G>T	5.37:g.140182210G>T						PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.T476T|PCDHA2_ENST00000520672.2_Intron	p.T476T	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1428	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1428G>T	CCDS54915.1																																																																																				0.667	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	300	1	0	0.000442599	1	0.000456725	5	300				
FMO5	2330	broad.mit.edu	37	1	146696569	146696569	+	Missense_Mutation	SNP	G	G	A	rs373414071		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:146696569G>A	ENST00000254090.4	-	2	441	c.53C>T	c.(52-54)tCc>tTc	p.S18F	FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Missense_Mutation_p.S18F|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.S18F	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	18						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GCACTTGATGGAAGAGAGCCC	0.502																																						ENST00000254090.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.(52-54)tCc>tTc		flavin containing monooxygenase 5		G	PHE/SER,PHE/SER,PHE/SER	1,4405	2.1+/-5.4	0,1,2202	145.0	135.0	138.0		53,53,53	1.0	0.1	1		138	0,8600		0,0,4300	no	missense,missense,missense	FMO5	NM_001144829.1,NM_001144830.1,NM_001461.2	155,155,155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	18/465,18/286,18/534	146696569	1,13005	2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146696569G>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.53C>T	1.37:g.146696569G>A	ENSP00000254090:p.Ser18Phe					FMO5_ENST00000441068.2_Missense_Mutation_p.S18F|FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Missense_Mutation_p.S18F	p.S18F	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN			2	441	-	all_hematologic(923;0.0487)		18					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.53C>T	CCDS926.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780700	0.70222	2.27E-4	0.0	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272;ENST00000533174;ENST00000533848	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.37	1.04	0.20106	.	0.472546	0.25654	N	0.029195	T	0.67277	0.2876	M	0.89904	3.07	0.19300	N	0.999974	D;D;P;D	0.71674	0.981;0.995;0.767;0.998	D;D;P;D	0.73708	0.948;0.958;0.74;0.981	T	0.69327	-0.5174	10	0.87932	D	0	-4.2792	16.4392	0.83894	0.0:0.5631:0.4369:0.0	.	18;18;18;18	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	F	18	ENSP00000416011:S18F;ENSP00000254090:S18F;ENSP00000358277:S18F;ENSP00000436429:S18F;ENSP00000432569:S18F	ENSP00000254090:S18F	S	-	2	0	FMO5	145163193	0.883000	0.30277	0.086000	0.20670	0.984000	0.73092	1.776000	0.38594	0.011000	0.14865	0.650000	0.86243	TCC		0.502	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		33	185	0	0	0	1	0	33	185				
KRTAP12-3	386683	broad.mit.edu	37	21	46078021	46078021	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr21:46078021G>A	ENST00000397907.1	+	1	173	c.125G>A	c.(124-126)cGc>cAc	p.R42H	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	42	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGCTGCACGCGCATTGTGTGC	0.642																																						ENST00000397907.1																			0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(124-126)cGc>cAc		keratin associated protein 12-3							97.0	110.0	106.0					21																	46078021		2188	4268	6456	SO:0001583	missense	386683					intermediate filament		g.chr21:46078021G>A	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.125G>A	21.37:g.46078021G>A	ENSP00000381005:p.Arg42His					TSPEAR_ENST00000323084.4_Intron	p.R42H	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN			1	173	+			42			14 X 5 AA approximate repeats.			Missense_Mutation	SNP	ENST00000397907.1	37	c.125G>A	CCDS42964.1	.	.	.	.	.	.	.	.	.	.	N	13.22	2.172317	0.38315	.	.	ENSG00000205439	ENST00000397907	T	0.01414	4.92	3.85	2.0	0.26442	.	.	.	.	.	T	0.01661	0.0053	.	.	.	0.09310	N	1	D	0.57571	0.98	B	0.42593	0.392	T	0.52034	-0.8629	8	0.72032	D	0.01	.	6.6436	0.22923	0.2005:0.5959:0.2036:0.0	.	42	P60328	KR123_HUMAN	H	42	ENSP00000381005:R42H	ENSP00000381005:R42H	R	+	2	0	KRTAP12-3	44902449	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.262000	0.18460	0.308000	0.22923	-2.157000	0.00329	CGC		0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			5	466	0	0	0	1	0	5	466				
DHX35	60625	broad.mit.edu	37	20	37620095	37620095	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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	69	0	0	0	1	0	4	69				
LCTL	197021	broad.mit.edu	37	15	66850172	66850172	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:66850172A>C	ENST00000341509.5	-	8	941	c.810T>G	c.(808-810)atT>atG	p.I270M	LCTL_ENST00000537670.1_Missense_Mutation_p.I97M	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	270					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGGGTTACTAATGTCCACAG	0.512																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(808-810)atT>atG		lactase-like							96.0	104.0	101.0					15																	66850172		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66850172A>C	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.810T>G	15.37:g.66850172A>C	ENSP00000343490:p.Ile270Met					LCTL_ENST00000537670.1_Missense_Mutation_p.I97M	p.I270M	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			8	941	-			270					B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.810T>G	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.994355	0.35226	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.31769	1.48;1.48	5.66	-8.56	0.00904	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.635174	0.17053	N	0.188842	T	0.24586	0.0596	L	0.44542	1.39	0.09310	N	0.999997	P	0.35155	0.487	B	0.44085	0.44	T	0.27938	-1.0059	10	0.54805	T	0.06	-2.8872	8.3099	0.32064	0.0744:0.2302:0.6128:0.0825	.	270	Q6UWM7	LCTL_HUMAN	M	97;270	ENSP00000445419:I97M;ENSP00000343490:I270M	ENSP00000343490:I270M	I	-	3	3	LCTL	64637226	0.457000	0.25752	0.000000	0.03702	0.261000	0.26267	-0.160000	0.10041	-1.813000	0.01226	-0.313000	0.08912	ATT		0.512	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		5	260	0	0	0	1	0	5	260				
KRTAP9-4	85280	broad.mit.edu	37	17	39406130	39406130	+	Missense_Mutation	SNP	G	G	A	rs201060748		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:39406130G>A	ENST00000334109.2	+	1	192	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	53	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.R53H(4)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.642													.|||	1	0.000199681	0.0	0.0	5008	,	,		19351	0.0		0.001	False		,,,				2504	0.0					ENST00000334109.2																			4	Substitution - Missense(4)	p.R53H(4)	lung(3)|upper_aerodigestive_tract(1)	breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(157-159)cGc>cAc		keratin associated protein 9-4							60.0	49.0	53.0					17																	39406130		2203	4299	6502	SO:0001583	missense	85280					keratin filament		g.chr17:39406130G>A	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.158G>A	17.37:g.39406130G>A	ENSP00000334922:p.Arg53His						p.R53H	NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	192	+		Breast(137;0.000496)	53			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	c.158G>A	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	2.344	-0.350422	0.05173	.	.	ENSG00000241595	ENST00000334109	T	0.01099	5.34	2.57	-5.14	0.02875	.	.	.	.	.	T	0.01254	0.0041	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39099	-0.9630	9	0.40728	T	0.16	.	2.8899	0.05673	0.2815:0.2222:0.4039:0.0924	.	53	Q9BYQ2	KRA94_HUMAN	H	53	ENSP00000334922:R53H	ENSP00000334922:R53H	R	+	2	0	KRTAP9-4	36659656	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.235000	0.01202	-3.785000	0.00107	-2.699000	0.00136	CGC		0.642	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			6	328	0	0	0	1	0	6	328				
SLC20A2	6575	broad.mit.edu	37	8	42317465	42317465	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:42317465C>T	ENST00000342228.3	-	5	931	c.562G>A	c.(562-564)Gct>Act	p.A188T	SLC20A2_ENST00000520179.1_Missense_Mutation_p.A188T|SLC20A2_ENST00000520262.1_Missense_Mutation_p.A188T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	188					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATGGTAGCAGCATAGAATACT	0.502																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(562-564)Gct>Act		solute carrier family 20 (phosphate transporter), member 2							108.0	91.0	96.0					8																	42317465		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42317465C>T		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.562G>A	8.37:g.42317465C>T	ENSP00000340465:p.Ala188Thr					SLC20A2_ENST00000520262.1_Missense_Mutation_p.A188T|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A188T	p.A188T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	931	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	188						Missense_Mutation	SNP	ENST00000342228.3	37	c.562G>A	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358206	0.95854	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.91521	-2.86;-2.86;-2.86	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	L	0.46741	1.465	0.80722	D	1	D	0.56287	0.975	D	0.69142	0.962	D	0.90790	0.4686	10	0.26408	T	0.33	-21.8667	17.9231	0.88973	0.0:1.0:0.0:0.0	.	188	Q08357	S20A2_HUMAN	T	188	ENSP00000340465:A188T;ENSP00000429754:A188T;ENSP00000429712:A188T	ENSP00000340465:A188T	A	-	1	0	SLC20A2	42436622	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.814000	0.86154	2.833000	0.97629	0.655000	0.94253	GCT		0.502	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			15	91	0	0	0	1	0	15	91				
CYP3A5	1577	broad.mit.edu	37	7	99277508	99277508	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:99277508G>A	ENST00000222982.4	-	1	111	c.12C>T	c.(10-12)atC>atT	p.I4I	CYP3A5_ENST00000339843.2_Silent_p.I4I|CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000343703.5_5'UTR|CYP3A5_ENST00000439761.1_Silent_p.I4I	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	4					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCAAATTTGGGATGAGGTCCA	0.512																																						ENST00000339843.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(10-12)atC>atT		cytochrome P450, family 3, subfamily A, polypeptide 5							145.0	131.0	136.0					7																	99277508		2203	4300	6503	SO:0001819	synonymous_variant	1577							g.chr7:99277508G>A	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.12C>T	7.37:g.99277508G>A						CYP3A5_ENST00000222982.4_Silent_p.I4I|CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000343703.5_5'UTR|CYP3A5_ENST00000439761.1_Silent_p.I4I	p.I4I							1	113	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)							A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	ENST00000222982.4	37	c.12C>T	CCDS5672.1																																																																																				0.512	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			5	130	0	0	0	1	0	5	130				
ARMC5	79798	broad.mit.edu	37	16	31473348	31473348	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:31473348C>T	ENST00000563544.1	+	3	1127	c.581C>T	c.(580-582)gCt>gTt	p.A194V	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000268314.4_Missense_Mutation_p.A194V|ARMC5_ENST00000457010.2_Missense_Mutation_p.A194V|ARMC5_ENST00000538189.1_Missense_Mutation_p.A226V|ARMC5_ENST00000412665.2_Missense_Mutation_p.A30V|ARMC5_ENST00000408912.3_Missense_Mutation_p.A289V			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	194										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCCACTGTGCTGGTAAGAGG	0.567																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(580-582)gCt>gTt		armadillo repeat containing 5							135.0	145.0	142.0					16																	31473348		2099	4217	6316	SO:0001583	missense	79798						binding	g.chr16:31473348C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.581C>T	16.37:g.31473348C>T	ENSP00000456877:p.Ala194Val					ARMC5_ENST00000563544.1_Missense_Mutation_p.A194V|ARMC5_ENST00000538189.1_Missense_Mutation_p.A226V|ARMC5_ENST00000412665.2_Missense_Mutation_p.A30V|ARMC5_ENST00000408912.3_Missense_Mutation_p.A289V|ARMC5_ENST00000268314.4_Missense_Mutation_p.A194V	p.A194V	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			2	1282	+			194					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.581C>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	19.66	3.869608	0.72065	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	4.15	4.15	0.48705	Armadillo-like helical (1);Armadillo-type fold (1);	0.064020	0.64402	D	0.000008	T	0.63558	0.2521	L	0.58101	1.795	0.34116	D	0.663554	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.973	T	0.73874	-0.3845	10	0.52906	T	0.07	-12.4689	14.0017	0.64437	0.0:1.0:0.0:0.0	.	226;226;289;194;194	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	V	289;226;194;194;30	ENSP00000386125:A289V;ENSP00000443995:A226V;ENSP00000268314:A194V;ENSP00000399561:A194V;ENSP00000400183:A30V	ENSP00000268314:A194V	A	+	2	0	ARMC5	31380849	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	6.178000	0.71968	2.168000	0.68352	0.556000	0.70494	GCT		0.567	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		3	169	0	0	0	1	0	3	169				
KRT82	3888	broad.mit.edu	37	12	52793886	52793886	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:52793886C>T	ENST00000257974.2	-	5	902	c.825G>A	c.(823-825)gtG>gtA	p.V275V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	275	Linker 12.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGTCCATCTTCACAATGACCG	0.602																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(823-825)gtG>gtA		keratin 82							80.0	70.0	74.0					12																	52793886		2203	4300	6503	SO:0001819	synonymous_variant	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52793886C>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.825G>A	12.37:g.52793886C>T						RP3-416H24.4_ENST00000547174.1_RNA	p.V275V	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	5	902	-			275			Linker 12.|Rod.			Silent	SNP	ENST00000257974.2	37	c.825G>A	CCDS8826.1																																																																																				0.602	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		21	130	0	0	0	1	0	21	130				
LRRC61	65999	broad.mit.edu	37	7	150034457	150034457	+	Silent	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:150034457T>A	ENST00000359623.4	+	3	1095	c.507T>A	c.(505-507)ggT>ggA	p.G169G	LRRC61_ENST00000493307.1_Silent_p.G169G|LRRC61_ENST00000323078.7_Silent_p.G169G	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	169	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTGGGCGTGGTAGTGAGTTCT	0.652																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(505-507)ggT>ggA		leucine rich repeat containing 61							89.0	90.0	90.0					7																	150034457		2203	4300	6503	SO:0001819	synonymous_variant	65999							g.chr7:150034457T>A	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.507T>A	7.37:g.150034457T>A						LRRC61_ENST00000493307.1_Silent_p.G169G|LRRC61_ENST00000323078.7_Silent_p.G169G	p.G169G	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	1095	+			169			LRRCT.		B3KUW0|D3DWY8	Silent	SNP	ENST00000359623.4	37	c.507T>A	CCDS5901.1																																																																																				0.652	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		36	155	0	0	0	1	0	36	155				
SULT1B1	27284	broad.mit.edu	37	4	70592819	70592819	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:70592819C>T	ENST00000310613.3	-	8	1175	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	293					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AATCTCTGTGCGGAATTGAAG	0.393																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(877-879)cGc>cAc		sulfotransferase family, cytosolic, 1B, member 1							83.0	82.0	82.0					4																	70592819		2202	4298	6500	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70592819C>T	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.878G>A	4.37:g.70592819C>T	ENSP00000308770:p.Arg293His						p.R293H	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			8	1175	-			293					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.878G>A	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	5.703	0.314321	0.10789	.	.	ENSG00000173597	ENST00000310613	T	0.01838	4.61	4.85	1.2	0.21068	.	0.417833	0.19734	N	0.107289	T	0.02267	0.0070	L	0.54965	1.715	0.09310	N	0.999998	P	0.51537	0.946	B	0.37387	0.248	T	0.50750	-0.8791	10	0.22109	T	0.4	.	9.3232	0.37977	0.0:0.7051:0.0:0.2949	.	293	O43704	ST1B1_HUMAN	H	293	ENSP00000308770:R293H	ENSP00000308770:R293H	R	-	2	0	SULT1B1	70627408	0.897000	0.30589	0.000000	0.03702	0.010000	0.07245	2.188000	0.42612	0.062000	0.16340	-0.471000	0.05019	CGC		0.393	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		4	81	0	0	0	1	0	4	81				
MTUS2	23281	broad.mit.edu	37	13	29608253	29608253	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr13:29608253G>T	ENST00000431530.3	+	2	2525	c.2467G>T	c.(2467-2469)Gat>Tat	p.D823Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	813	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTACAGTTCCGATCCTTCAGG	0.458																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2467-2469)Gat>Tat		microtubule associated tumor suppressor candidate 2							102.0	105.0	104.0					13																	29608253		2100	4213	6313	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608253G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2467G>T	13.37:g.29608253G>T	ENSP00000392057:p.Asp823Tyr						p.D823Y	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			2	2525	+			813			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2467G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592964	0.66219	.	.	ENSG00000132938	ENST00000431530	T	0.23754	1.89	5.27	5.27	0.74061	.	0.398317	0.23026	N	0.052792	T	0.49745	0.1575	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.37430	-0.9706	9	.	.	.	.	18.2493	0.89997	0.0:0.0:1.0:0.0	.	813	Q5JR59	MTUS2_HUMAN	Y	823	ENSP00000392057:D823Y	.	D	+	1	0	MTUS2	28506253	1.000000	0.71417	0.112000	0.21494	0.116000	0.19942	6.929000	0.75852	2.614000	0.88457	0.655000	0.94253	GAT		0.458	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		36	163	1	0	6.3237e-29	1	6.89212e-29	36	163				
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368																																						ENST00000274712.3																			0				breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8						c.e4-1		zinc finger, matrin-type 2							166.0	152.0	157.0					5																	140083501		2203	4300	6503	SO:0001630	splice_region_variant	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140083501A>T	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.237-1A>T	5.37:g.140083501A>T								NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	363	+									Splice_Site	SNP	ENST00000274712.3	37		CCDS4239.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787461	0.90367	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0025	0.80306	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZMAT2	140063685	1.000000	0.71417	0.698000	0.30274	0.851000	0.48451	8.932000	0.92897	2.237000	0.73441	0.459000	0.35465	.		0.368	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723	Intron	7	389	0	0	0	1	0	7	389				
RAD18	56852	broad.mit.edu	37	3	8944117	8944117	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:8944117A>T	ENST00000264926.2	-	10	1231	c.1115T>A	c.(1114-1116)gTa>gAa	p.V372E		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	372					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTTATTGTTACTGTTTTTTG	0.308								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(1114-1116)gTa>gAa	Rad6 pathway	RAD18 homolog (S. cerevisiae)							169.0	157.0	161.0					3																	8944117		2202	4300	6502	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8944117A>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1115T>A	3.37:g.8944117A>T	ENSP00000264926:p.Val372Glu						p.V372E	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	10	1231	-			372					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.1115T>A	CCDS2571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.71|19.71	3.878097|3.878097	0.72294|0.72294	.|.	.|.	ENSG00000070950|ENSG00000070950	ENST00000427329|ENST00000264926	.|T	.|0.21543	.|2.0	4.63|4.63	-0.884|-0.884	0.10597|0.10597	.|.	.|0.879574	.|0.09632	.|N	.|0.776134	T|T	0.12689|0.12689	0.0308|0.0308	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|B	.|0.27823	.|0.19	.|B	.|0.20955	.|0.032	T|T	0.37641|0.37641	-0.9697|-0.9697	5|10	.|0.02654	.|T	.|1	-7.1221|-7.1221	4.2604|4.2604	0.10739|0.10739	0.545:0.1698:0.2852:0.0|0.545:0.1698:0.2852:0.0	.|.	.|372	.|Q9NS91	.|RAD18_HUMAN	R|E	8|372	.|ENSP00000264926:V372E	.|ENSP00000264926:V372E	S|V	-|-	3|2	2|0	RAD18|RAD18	8919117|8919117	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.787000|0.787000	0.44495|0.44495	0.250000|0.250000	0.18235|0.18235	-0.296000|-0.296000	0.08947|0.08947	0.460000|0.460000	0.39030|0.39030	AGT|GTA		0.308	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		4	65	0	0	0	1	0	4	65				
DPYSL2	1808	broad.mit.edu	37	8	26481657	26481657	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:26481657A>T	ENST00000311151.5	+	4	725		c.e4-1		DPYSL2_ENST00000523027.1_Splice_Site|DPYSL2_ENST00000521913.1_Splice_Site	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTTTCTTTCTAGTTGACCACG	0.532																																						ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.e4-1		dihydropyrimidinase-like 2							115.0	108.0	110.0					8																	26481657		2203	4300	6503	SO:0001630	splice_region_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26481657A>T	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.314-1A>T	8.37:g.26481657A>T						DPYSL2_ENST00000521913.1_Splice_Site|DPYSL2_ENST00000523027.1_Splice_Site		NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	4	725	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)						A8K5H2|B4DR31|D3DSS7|O00424	Splice_Site	SNP	ENST00000311151.5	37		CCDS6051.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562226	0.65538	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPYSL2	26537574	1.000000	0.71417	0.989000	0.46669	0.646000	0.38490	9.339000	0.96797	2.233000	0.73108	0.533000	0.62120	.		0.532	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386	Intron	7	307	0	0	0	1	0	7	307				
DEPDC5	9681	broad.mit.edu	37	22	32272228	32272228	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:32272228T>A	ENST00000382112.3	+	36	3825	c.3755T>A	c.(3754-3756)gTa>gAa	p.V1252E	DEPDC5_ENST00000535622.1_Missense_Mutation_p.V1161E|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V1261E|DEPDC5_ENST00000400246.1_Missense_Mutation_p.V1261E|DEPDC5_ENST00000400248.2_Missense_Mutation_p.V1230E|DEPDC5_ENST00000539165.1_Missense_Mutation_p.V78E|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V1239E|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V1230E|DEPDC5_ENST00000382105.2_Intron	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1261	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TACAAGATAGTAACGGACAAA	0.517																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3781-3783)gTa>gAa		DEP domain containing 5							114.0	110.0	111.0					22																	32272228		1878	4113	5991	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32272228T>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3755T>A	22.37:g.32272228T>A	ENSP00000371546:p.Val1252Glu					DEPDC5_ENST00000535622.1_Missense_Mutation_p.V1161E|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V1239E|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V1261E|DEPDC5_ENST00000382112.3_Missense_Mutation_p.V1252E|DEPDC5_ENST00000400248.1_Missense_Mutation_p.V1230E|DEPDC5_ENST00000539165.1_Missense_Mutation_p.V78E|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V1230E	p.V1261E			O75140	DEPD5_HUMAN			37	3924	+			1230					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3782T>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	21.6|21.6	4.178987|4.178987	0.78564|0.78564	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T;T	.|0.15256	.|2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.16|5.16	4.12|4.12	0.48240|0.48240	.|DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.307855	.|0.30602	.|N	.|0.009279	T|T	0.27349|0.27349	0.0671|0.0671	L|L	0.55481|0.55481	1.735|1.735	0.58432|0.58432	D|D	0.999997|0.999997	.|P;P;D;P;P;P	.|0.59357	.|0.905;0.736;0.985;0.928;0.883;0.933	.|P;B;P;P;B;B	.|0.56916	.|0.503;0.265;0.809;0.626;0.422;0.422	T|T	0.01390|0.01390	-1.1367|-1.1367	5|10	.|0.62326	.|D	.|0.03	.|.	7.4478|7.4478	0.27221|0.27221	0.0:0.1676:0.0:0.8324|0.0:0.1676:0.0:0.8324	.|.	.|1261;1161;647;1239;1252;1230	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	R|E	636|1161;1239;1230;1161;1261;1252;1261;1230;78	.|ENSP00000440210:V1161E;ENSP00000266091:V1239E;ENSP00000383108:V1230E;ENSP00000383105:V1261E;ENSP00000371546:V1252E;ENSP00000371545:V1261E;ENSP00000383107:V1230E;ENSP00000446286:V78E	.|ENSP00000266091:V1239E	S|V	+|+	3|2	2|0	DEPDC5|DEPDC5	30602228|30602228	1.000000|1.000000	0.71417|0.71417	0.697000|0.697000	0.30258|0.30258	0.960000|0.960000	0.62799|0.62799	3.533000|3.533000	0.53561|0.53561	0.819000|0.819000	0.34492|0.34492	0.524000|0.524000	0.50904|0.50904	AGT|GTA		0.517	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		7	351	0	0	0	1	0	7	351				
OFCC1	266553	broad.mit.edu	37	6	9933181	9933181	+	Splice_Site	SNP	T	T	A	rs368837849		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:9933181T>A	ENST00000472329.1	-	4	244		c.e4-2		OFCC1_ENST00000316020.6_Splice_Site			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				CTTCTTTAACTAGAGCAAAAC	0.388																																						ENST00000316020.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11						c.e4-2		orofacial cleft 1 candidate 1							178.0	176.0	177.0					6																	9933181		2203	4300	6503	SO:0001630	splice_region_variant	266553							g.chr6:9933181T>A	AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000472329.1:c.791-2A>T	6.37:g.9933181T>A						OFCC1_ENST00000472329.1_Splice_Site								4	283	-	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)						Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Splice_Site	SNP	ENST00000472329.1	37			.	.	.	.	.	.	.	.	.	.	T	12.66	2.005147	0.35415	.	.	ENSG00000181355	ENST00000460363;ENST00000492169;ENST00000316020;ENST00000491508	.	.	.	5.84	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.594	0.50962	0.0:0.069:0.0:0.931	.	.	.	.	.	-1	.	.	.	-	.	.	OFCC1	10041167	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	2.876000	0.48498	1.047000	0.40274	0.533000	0.62120	.		0.388	OFCC1-003	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000353310.2	NM_153003	Intron	5	288	0	0	0	1	0	5	288				
ZNF182	7569	broad.mit.edu	37	X	47836772	47836772	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:47836772T>C	ENST00000396965.1	-	7	1064	c.714A>G	c.(712-714)gcA>gcG	p.A238A	ZNF182_ENST00000305127.6_Silent_p.A238A|ZNF182_ENST00000376943.3_Silent_p.A219A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	238					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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTTCCTACATGCAGTACATT	0.408																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(712-714)gcA>gcG		zinc finger protein 182							78.0	76.0	77.0					X																	47836772		2203	4300	6503	SO:0001819	synonymous_variant	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836772T>C	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.714A>G	X.37:g.47836772T>C						ZNF182_ENST00000305127.6_Silent_p.A238A|ZNF182_ENST00000376943.3_Silent_p.A219A	p.A238A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	1064	-			238					A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.714A>G	CCDS35236.1																																																																																				0.408	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		19	34	0	0	0	1	0	19	34				
ZNF512	84450	broad.mit.edu	37	2	27838033	27838033	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:27838033A>T	ENST00000355467.4	+	11	1214		c.e11-1		RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Splice_Site|ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTTGTCTTGTAGTTAAAATAT	0.363																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e11-1		zinc finger protein 512							154.0	145.0	148.0					2																	27838033		2203	4300	6503	SO:0001630	splice_region_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27838033A>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1132-1A>T	2.37:g.27838033A>T						RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Splice_Site|ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site				Q96ME7	ZN512_HUMAN			11	1214	+	Acute lymphoblastic leukemia(172;0.155)							B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Splice_Site	SNP	ENST00000355467.4	37		CCDS1758.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512015	0.85389	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2369	0.59974	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF512	27691537	1.000000	0.71417	0.959000	0.39883	0.942000	0.58702	7.773000	0.85462	2.136000	0.66102	0.533000	0.62120	.		0.363	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434	Intron	8	105	0	0	0	1	0	8	105				
ERCC2	2068	broad.mit.edu	37	19	45857991	45857991	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:45857991C>T	ENST00000391945.4	-	17	1739	c.1662G>A	c.(1660-1662)gaG>gaA	p.E554E	ERCC2_ENST00000391944.3_Silent_p.E476E	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	554	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCGTACCTGCTCATACCAGG	0.602			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1660-1662)gaG>gaA	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							128.0	102.0	111.0					19																	45857991		2203	4300	6503	SO:0001819	synonymous_variant	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45857991C>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1662G>A	19.37:g.45857991C>T						ERCC2_ENST00000391944.3_Silent_p.E476E	p.E554E	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	17	1739	-		Ovarian(192;0.0728)|all_neural(266;0.112)	554			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	c.1662G>A	CCDS33049.1																																																																																				0.602	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		116	470	0	0	0	1	0	116	470				
RALGAPB	57148	broad.mit.edu	37	20	37153552	37153552	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:37153552A>T	ENST00000262879.6	+	11	2035	c.1751A>T	c.(1750-1752)tAc>tTc	p.Y584F	RALGAPB_ENST00000397038.1_Missense_Mutation_p.Y362F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.Y584F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.Y584F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	584					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTGGTTCCTTACTTTATTTCA	0.413																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1750-1752)tAc>tTc		Ral GTPase activating protein, beta subunit (non-catalytic)							296.0	273.0	281.0					20																	37153552		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37153552A>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1751A>T	20.37:g.37153552A>T	ENSP00000262879:p.Tyr584Phe					RALGAPB_ENST00000397042.3_Missense_Mutation_p.Y584F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.Y362F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.Y584F	p.Y584F			Q86X10	RLGPB_HUMAN			11	2035	+			584					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1751A>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.868751	0.91587	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.63913	-0.07;-0.07	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.71592	0.3358	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.56968	0.978;0.974;0.974;0.974	P;D;D;D	0.70487	0.736;0.969;0.969;0.969	T	0.67003	-0.5780	10	0.20046	T	0.44	.	15.6243	0.76840	1.0:0.0:0.0:0.0	.	412;584;584;584	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	F	584;584;584;362;584;412	ENSP00000262879:Y584F;ENSP00000380233:Y584F	ENSP00000262879:Y584F	Y	+	2	0	RALGAPB	36586966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.091000	0.63221	0.459000	0.35465	TAC		0.413	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		9	910	0	0	0	1	0	9	910				
SYDE2	84144	broad.mit.edu	37	1	85648743	85648743	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:85648743T>C	ENST00000341460.5	-	3	1631	c.1582A>G	c.(1582-1584)Aaa>Gaa	p.K528E		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	528					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATGGAAAGTTTCCTCACAGTT	0.353																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1582-1584)Aaa>Gaa		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							149.0	153.0	152.0					1																	85648743		1822	4080	5902	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85648743T>C	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1582A>G	1.37:g.85648743T>C	ENSP00000340594:p.Lys528Glu						p.K528E	NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	1631	-			528					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1582A>G	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041908	0.75732	.	.	ENSG00000097096	ENST00000341460	T	0.13420	2.59	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	M	0.78916	2.43	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	D;D	0.75484	0.965;0.986	T	0.06588	-1.0818	10	0.56958	D	0.05	.	15.4204	0.75006	0.0:0.0:0.0:1.0	.	528;528	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	E	528	ENSP00000340594:K528E	ENSP00000340594:K528E	K	-	1	0	SYDE2	85421331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.695000	0.84257	2.065000	0.61736	0.524000	0.50904	AAA		0.353	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			15	100	0	0	0	1	0	15	100				
PLG	5340	broad.mit.edu	37	6	161152232	161152232	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:161152232T>C	ENST00000308192.9	+	11	1469	c.1406T>C	c.(1405-1407)cTg>cCg	p.L469P		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	469					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTGTTGTCCTGCTTCCAGAT	0.498																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1405-1407)cTg>cCg		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						101.0	92.0	95.0					6																	161152232		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161152232T>C	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1406T>C	6.37:g.161152232T>C	ENSP00000308938:p.Leu469Pro						p.L469P	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	11	1469	+			469					Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1406T>C	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775779	0.31411	.	.	ENSG00000122194	ENST00000308192	T	0.63417	-0.04	4.5	2.02	0.26589	Kringle-like fold (1);	0.563165	0.13282	U	0.399663	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	10	0.26408	T	0.33	.	0.8475	0.01165	0.4782:0.2073:0.1149:0.1995	.	469	P00747	PLMN_HUMAN	P	469	ENSP00000308938:L469P	ENSP00000308938:L469P	L	+	2	0	PLG	161072222	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.108000	0.10857	0.238000	0.21222	-0.364000	0.07487	CTG		0.498	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		43	214	0	0	0	1	0	43	214				
SLC52A2	79581	broad.mit.edu	37	8	145583069	145583069	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:145583069A>G	ENST00000532887.1	+	2	699	c.116A>G	c.(115-117)aAa>aGa	p.K39R	SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	39					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GTGGTGGTCAAAGAGCTTCCA	0.647																																						ENST00000532887.1																			0											c.(115-117)aAa>aGa		solute carrier family 52 (riboflavin transporter), member 2							98.0	89.0	92.0					8																	145583069		2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583069A>G	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.116A>G	8.37:g.145583069A>G	ENSP00000436768:p.Lys39Arg					SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R	p.K39R			Q9HAB3	RFT3_HUMAN			2	699	+			39					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.116A>G	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008546	0.54361	.	.	ENSG00000185803	ENST00000524541;ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000534725;ENST00000532887;ENST00000329994;ENST00000526752	T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.12	1.72	0.24424	.	0.177750	0.48767	D	0.000176	T	0.79639	0.4480	M	0.72118	2.19	0.52501	D	0.99995	D	0.69078	0.997	D	0.75020	0.985	T	0.74509	-0.3642	10	0.19147	T	0.46	.	6.2933	0.21071	0.7763:0.0:0.2237:0.0	.	39	Q9HAB3	RFT3_HUMAN	R	39	ENSP00000434239:K39R;ENSP00000435820:K39R;ENSP00000434728:K39R;ENSP00000433583:K39R;ENSP00000385961:K39R;ENSP00000431965:K39R;ENSP00000436768:K39R;ENSP00000333638:K39R;ENSP00000433796:K39R	ENSP00000333638:K39R	K	+	2	0	GPR172A	145553877	0.709000	0.27886	0.942000	0.38095	0.876000	0.50452	2.512000	0.45485	0.459000	0.27016	0.334000	0.21626	AAA		0.647	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		2	4	0	0	0	1	0	2	4				
POLR2A	5430	broad.mit.edu	37	17	7417116	7417116	+	Missense_Mutation	SNP	T	T	C	rs564268404		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:7417116T>C	ENST00000322644.6	+	29	5932	c.5533T>C	c.(5533-5535)Tct>Cct	p.S1845P		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1845	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AACCAGTCCTTCTTACAGTCC	0.572													T|||	1	0.000199681	0.0	0.0	5008	,	,		16315	0.0		0.0	False		,,,				2504	0.001					ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5533-5535)Tct>Cct		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							237.0	230.0	233.0					17																	7417116		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7417116T>C			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5533T>C	17.37:g.7417116T>C	ENSP00000314949:p.Ser1845Pro						p.S1845P	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			29	5932	+		Prostate(122;0.173)	1845			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.5533T>C	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.277776	0.40294	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.71579	-0.58	3.94	2.84	0.33178	.	0.305275	0.19908	U	0.103359	T	0.76933	0.4057	M	0.84683	2.71	0.80722	D	1	P	0.43826	0.818	P	0.50314	0.637	T	0.72587	-0.4248	10	0.27082	T	0.32	.	8.7695	0.34724	0.1695:0.0:0.0:0.8305	.	1845	P24928	RPB1_HUMAN	P	1801;1845	ENSP00000314949:S1845P	ENSP00000314949:S1845P	S	+	1	0	SLC35G6	7357840	0.010000	0.17322	0.982000	0.44146	0.840000	0.47671	1.368000	0.34216	0.566000	0.29273	0.248000	0.18094	TCT		0.572	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		37	156	0	0	0	1	0	37	156				
SLC38A11	151258	broad.mit.edu	37	2	165796068	165796068	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:165796068T>A	ENST00000409149.3	-	5	554		c.e5-2		SLC38A11_ENST00000409662.1_Splice_Site|SLC38A11_ENST00000493887.1_5'Flank|SLC38A11_ENST00000303735.4_Splice_Site|SLC38A11_ENST00000409058.1_Splice_Site	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CAGGATCAACTAAAACACAAT	0.313																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.e4-2		solute carrier family 38, member 11							78.0	75.0	76.0					2																	165796068		2203	4300	6503	SO:0001630	splice_region_variant	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165796068T>A		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.263-2A>T	2.37:g.165796068T>A						SLC38A11_ENST00000409149.3_Splice_Site|SLC38A11_ENST00000409058.1_Splice_Site|SLC38A11_ENST00000409662.1_Splice_Site		NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			4	527	-								B4DF99|Q8N887	Splice_Site	SNP	ENST00000409149.3	37		CCDS56142.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787104	0.49997	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.787	0.63117	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC38A11	165504314	1.000000	0.71417	0.983000	0.44433	0.520000	0.34377	6.977000	0.76141	2.230000	0.72887	0.533000	0.62120	.		0.313	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512	Intron	3	30	0	0	0	1	0	3	30				
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(91-93)ttA>ttT		olfactory receptor, family 4, subfamily D, member 11							113.0	107.0	109.0					11																	59271141		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271141A>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.93A>T	11.37:g.59271141A>T	ENSP00000320077:p.Leu31Phe						p.L31F	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	93	+			31						Missense_Mutation	SNP	ENST00000313253.1	37	c.93A>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.463158	0.00171	.	.	ENSG00000176200	ENST00000313253	T	0.00012	9.3	5.45	0.808	0.18719	.	0.176500	0.27147	N	0.020708	T	0.00039	0.0001	N	0.00308	-1.67	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.37776	-0.9691	10	0.02654	T	1	-20.1355	9.01	0.36135	0.1516:0.0:0.6995:0.1488	.	31	Q8NGI4	OR4DB_HUMAN	F	31	ENSP00000320077:L31F	ENSP00000320077:L31F	L	+	3	2	OR4D11	59027717	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	-0.634000	0.05477	0.138000	0.18790	-0.371000	0.07208	TTA		0.448	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		9	231	0	0	0	1	0	9	231				
ZCCHC9	84240	broad.mit.edu	37	5	80600750	80600750	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:80600750T>A	ENST00000254037.2	+	1	3329	c.174T>A	c.(172-174)caT>caA	p.H58Q	ZCCHC9_ENST00000438268.2_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.H58Q			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	58	Poly-Lys.				negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AAGCAAAACATAAAAAGAACA	0.373																																						ENST00000254037.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13						c.(172-174)caT>caA		zinc finger, CCHC domain containing 9							73.0	74.0	74.0					5																	80600750		2203	4300	6503	SO:0001583	missense	84240						nucleic acid binding|zinc ion binding	g.chr5:80600750T>A	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.174T>A	5.37:g.80600750T>A	ENSP00000254037:p.His58Gln					ZCCHC9_ENST00000438268.2_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.H58Q	p.H58Q			Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	1	3329	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	58			Poly-Lys.		B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	c.174T>A	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.367145	0.24771	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.13	-0.957	0.10350	.	0.419800	0.28268	N	0.015978	T	0.19725	0.0474	N	0.14661	0.345	0.19575	N	0.999964	B	0.06786	0.001	B	0.04013	0.001	T	0.19484	-1.0304	10	0.18710	T	0.47	-2.8538	8.0593	0.30623	0.0:0.4515:0.4363:0.1122	.	58	Q8N567	ZCHC9_HUMAN	Q	58	ENSP00000254037:H58Q;ENSP00000385047:H58Q;ENSP00000369546:H58Q;ENSP00000412637:H58Q	ENSP00000254037:H58Q	H	+	3	2	ZCCHC9	80636506	0.982000	0.34865	0.971000	0.41717	0.976000	0.68499	0.113000	0.15499	-0.176000	0.10707	-0.316000	0.08728	CAT		0.373	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		5	86	0	0	0	1	0	5	86				
ZNHIT6	54680	broad.mit.edu	37	1	86173901	86173901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:86173901G>A	ENST00000370574.3	-	1	200	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R23W			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	23					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GGACTTAGCCGCACCCCCTCA	0.602																																						ENST00000431532.2																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(67-69)Cgg>Tgg		zinc finger, HIT-type containing 6							82.0	82.0	82.0					1																	86173901		2203	4300	6503	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86173901G>A	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.67C>T	1.37:g.86173901G>A	ENSP00000359606:p.Arg23Trp					ZNHIT6_ENST00000370574.3_Missense_Mutation_p.R23W	p.R23W	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN			1	215	-			23					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.67C>T	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839136	0.71373	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.61627	0.09;0.43	4.1	3.1	0.35709	.	0.230767	0.22540	N	0.058737	T	0.41994	0.1183	L	0.27053	0.805	0.29331	N	0.866714	D;D	0.76494	0.999;0.999	P;P	0.55999	0.789;0.789	T	0.29243	-1.0018	10	0.87932	D	0	-2.746	9.1753	0.37107	0.0:0.2231:0.7769:0.0	.	23;23	B4DP13;Q9NWK9	.;BCD1_HUMAN	W	23	ENSP00000414344:R23W;ENSP00000359606:R23W	ENSP00000359606:R23W	R	-	1	2	ZNHIT6	85946489	0.366000	0.25014	0.983000	0.44433	0.054000	0.15201	0.552000	0.23376	2.295000	0.77249	0.453000	0.30009	CGG		0.602	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		4	129	0	0	0	1	0	4	129				
FXR2	9513	broad.mit.edu	37	17	7496341	7496341	+	Missense_Mutation	SNP	G	G	A	rs527575662		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:7496341G>A	ENST00000250113.7	-	13	1823	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000538513.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	497						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)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAAGTGGGCCGGGGGGCAGGT	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13599	0.0		0.0	False		,,,				2504	0.0					ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1489-1491)Cgg>Tgg		fragile X mental retardation, autosomal homolog 2							29.0	31.0	31.0					17																	7496341		1822	4064	5886	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496341G>A	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.1489C>T	17.37:g.7496341G>A	ENSP00000250113:p.Arg497Trp						p.R497W	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	13	1823	-			497					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.1489C>T	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440230	0.63067	.	.	ENSG00000129245	ENST00000250113	T	0.46451	0.87	5.63	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	N	0.22421	0.69	0.42876	D	0.994153	B	0.18968	0.032	B	0.13407	0.009	T	0.12553	-1.0543	10	0.72032	D	0.01	-0.1109	13.8984	0.63787	0.0:0.0:0.8465:0.1535	.	497	P51116	FXR2_HUMAN	W	497	ENSP00000250113:R497W	ENSP00000250113:R497W	R	-	1	2	FXR2	7437066	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.341000	0.33907	1.474000	0.48178	0.655000	0.94253	CGG		0.617	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			3	85	0	0	0	1	0	3	85				
ANGPTL4	51129	broad.mit.edu	37	19	8429515	8429515	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:8429515A>T	ENST00000301455.2	+	1	481	c.310A>T	c.(310-312)Agc>Tgc	p.S104C	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.S104C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	104					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GGTCCTTCACAGCCTGCAGGT	0.706																																						ENST00000301455.2																			0				large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						c.(310-312)Agc>Tgc		angiopoietin-like 4							13.0	11.0	12.0					19																	8429515		2149	4167	6316	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8429515A>T	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.310A>T	19.37:g.8429515A>T	ENSP00000301455:p.Ser104Cys					ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.S104C	p.S104C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN			1	481	+			104					A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.310A>T	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.390030	0.42410	.	.	ENSG00000167772	ENST00000301455;ENST00000393962	T;T	0.42900	0.96;0.96	3.5	1.42	0.22433	.	7739.210000	0.00166	N	0.000000	T	0.35278	0.0926	L	0.32530	0.975	0.80722	D	1	B;B	0.18741	0.03;0.03	B;B	0.12156	0.007;0.007	T	0.20107	-1.0285	10	0.62326	D	0.03	.	6.509	0.22212	0.7916:0.0:0.2084:0.0	.	104;104	A8MY84;Q9BY76	.;ANGL4_HUMAN	C	104	ENSP00000301455:S104C;ENSP00000377534:S104C	ENSP00000301455:S104C	S	+	1	0	ANGPTL4	8335515	0.849000	0.29639	0.118000	0.21660	0.183000	0.23260	1.413000	0.34725	0.247000	0.21414	0.398000	0.26397	AGC		0.706	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		6	20	0	0	0	1	0	6	20				
WBSCR17	64409	broad.mit.edu	37	7	71175882	71175882	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:71175882G>C	ENST00000333538.5	+	10	2271	c.1637G>C	c.(1636-1638)aGc>aCc	p.S546T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	546	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGGTCAAGAGCAGCCTGTAC	0.612																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1636-1638)aGc>aCc		Williams-Beuren syndrome chromosome region 17							51.0	47.0	48.0					7																	71175882		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71175882G>C	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1637G>C	7.37:g.71175882G>C	ENSP00000329654:p.Ser546Thr					WBSCR17_ENST00000498380.2_3'UTR	p.S546T	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			10	2271	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	546			Ricin B-type lectin.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1637G>C	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	8.992	0.977856	0.18812	.	.	ENSG00000185274	ENST00000333538	T	0.30981	1.51	5.28	3.48	0.39840	Ricin B-related lectin (1);Ricin B lectin (3);	0.185603	0.56097	N	0.000023	T	0.21427	0.0516	N	0.25647	0.755	0.43238	D	0.995145	B	0.18310	0.027	B	0.17098	0.017	T	0.04281	-1.0963	10	0.56958	D	0.05	.	10.0202	0.42037	0.0753:0.1383:0.7863:0.0	.	546	Q6IS24	GLTL3_HUMAN	T	546	ENSP00000329654:S546T	ENSP00000329654:S546T	S	+	2	0	WBSCR17	70813818	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.777000	0.47717	0.801000	0.34066	-0.119000	0.15052	AGC		0.612	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		9	116	0	0	0	1	0	9	116				
OR4D1	26689	broad.mit.edu	37	17	56232618	56232618	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:56232618A>T	ENST00000268912.5	+	1	125	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	35					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTTAGTCTATGTTACCACC	0.463																																						ENST00000268912.5																			0				kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(103-105)tAt>tTt		olfactory receptor, family 4, subfamily D, member 1							150.0	149.0	149.0					17																	56232618		2037	4214	6251	SO:0001583	missense	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232618A>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.104A>T	17.37:g.56232618A>T	ENSP00000365451:p.Tyr35Phe						p.Y35F	NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN			1	125	+			35					B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	c.104A>T	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	a	15.28	2.787754	0.49997	.	.	ENSG00000141194	ENST00000268912	T	0.04406	3.63	5.63	5.63	0.86233	.	0.000000	0.37437	U	0.002095	T	0.17874	0.0429	M	0.78344	2.41	0.09310	N	1	D	0.55385	0.971	P	0.57324	0.818	T	0.04128	-1.0975	10	0.87932	D	0	-16.5865	13.7938	0.63157	1.0:0.0:0.0:0.0	.	35	Q15615	OR4D1_HUMAN	F	35	ENSP00000365451:Y35F	ENSP00000365451:Y35F	Y	+	2	0	OR4D1	53587617	0.997000	0.39634	0.586000	0.28679	0.233000	0.25261	4.265000	0.58865	2.142000	0.66516	0.443000	0.29094	TAT		0.463	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			6	592	0	0	0	1	0	6	592				
OR2J3	442186	broad.mit.edu	37	6	29079901	29079901	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:29079901C>G	ENST00000377169.1	+	1	234	c.234C>G	c.(232-234)acC>acG	p.T78T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCTACACCACCAGCTCTATCC	0.473																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(232-234)acC>acG		olfactory receptor, family 2, subfamily J, member 3							205.0	210.0	209.0					6																	29079901		1287	2612	3899	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079901C>G		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.234C>G	6.37:g.29079901C>G							p.T78T	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	234	+			78					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.234C>G	CCDS43433.1																																																																																				0.473	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			64	486	0	0	0	1	0	64	486				
PI4K2B	55300	broad.mit.edu	37	4	25258214	25258214	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:25258214C>T	ENST00000264864.6	+	4	863	c.674C>T	c.(673-675)gCa>gTa	p.A225V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.A129V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	225	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				ATTGACCGTGCAAAATCAAGA	0.363																																						ENST00000264864.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15						c.(673-675)gCa>gTa		phosphatidylinositol 4-kinase type 2 beta							119.0	118.0	118.0					4																	25258214		2203	4300	6503	SO:0001583	missense	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25258214C>T	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.674C>T	4.37:g.25258214C>T	ENSP00000264864:p.Ala225Val					PI4K2B_ENST00000512921.1_Missense_Mutation_p.A129V	p.A225V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN			4	863	+		Breast(46;0.173)	225			PI3K/PI4K.		Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	c.674C>T	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164878	0.57476	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	T;T	0.74632	-0.86;-0.86	6.07	6.07	0.98685	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.81044	0.4741	M	0.82323	2.585	0.80722	D	1	P	0.39022	0.655	B	0.43018	0.405	T	0.77360	-0.2617	10	0.23302	T	0.38	-16.8072	20.6593	0.99626	0.0:1.0:0.0:0.0	.	225	Q8TCG2	P4K2B_HUMAN	V	129;225;194	ENSP00000423373:A129V;ENSP00000264864:A225V	ENSP00000264864:A225V	A	+	2	0	PI4K2B	24867312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.188000	0.50958	2.885000	0.99019	0.655000	0.94253	GCA		0.363	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		29	85	0	0	0	1	0	29	85				
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A	rs577866623		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0					ENST00000302124.2																			15	Substitution - coding silent(15)	p.A270A(15)	endometrium(15)	NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(808-810)gcG>gcA		olfactory receptor, family 8, subfamily I, member 2							87.0	85.0	86.0					11																	55861593		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861593G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.810G>A	11.37:g.55861593G>A						OR8I2_ENST00000560768.1_3'UTR	p.A270A			Q8N0Y5	OR8I2_HUMAN			1	841	+	Esophageal squamous(21;0.00693)		270					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.810G>A	CCDS31517.1																																																																																				0.453	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		4	106	0	0	0	1	0	4	106				
TNKS1BP1	85456	broad.mit.edu	37	11	57077445	57077445	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:57077445G>A	ENST00000532437.1	-	5	3051	c.2740C>T	c.(2740-2742)Cac>Tac	p.H914Y	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.H914Y			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	914	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTACCATGGTGGTCCCTCTTC	0.572																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2740-2742)Cac>Tac		tankyrase 1 binding protein 1, 182kDa							190.0	184.0	186.0					11																	57077445		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077445G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2740C>T	11.37:g.57077445G>A	ENSP00000437271:p.His914Tyr					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.H914Y|TNKS1BP1_ENST00000530920.1_5'UTR	p.H914Y			Q9C0C2	TB182_HUMAN			5	3051	-		all_epithelial(135;0.21)	914			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2740C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.651342	0.00785	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30448	1.53;1.53	5.17	3.22	0.36961	.	1.395550	0.04569	N	0.392900	T	0.19046	0.0457	N	0.22421	0.69	0.09310	N	1	B	0.33135	0.399	B	0.31686	0.134	T	0.11891	-1.0569	10	0.02654	T	1	0.1175	8.2807	0.31898	0.0859:0.0:0.7561:0.158	.	914	Q9C0C2	TB182_HUMAN	Y	914	ENSP00000350990:H914Y;ENSP00000437271:H914Y	ENSP00000350990:H914Y	H	-	1	0	TNKS1BP1	56834021	0.000000	0.05858	0.042000	0.18584	0.114000	0.19823	0.786000	0.26844	1.286000	0.44565	0.462000	0.41574	CAC		0.572	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		101	460	0	0	0	1	0	101	460				
LRBA	987	broad.mit.edu	37	4	151511932	151511932	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:151511932C>A	ENST00000357115.3	-	40	6402	c.6159G>T	c.(6157-6159)gaG>gaT	p.E2053D	LRBA_ENST00000510413.1_Missense_Mutation_p.E2042D|LRBA_ENST00000535741.1_Missense_Mutation_p.E2042D|LRBA_ENST00000507224.1_Missense_Mutation_p.E2042D	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2053						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCAGGAGGATCTCGTTTTCTG	0.413																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(6124-6126)gaG>gaT		LPS-responsive vesicle trafficking, beach and anchor containing							121.0	105.0	110.0					4																	151511932		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151511932C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6159G>T	4.37:g.151511932C>A	ENSP00000349629:p.Glu2053Asp					LRBA_ENST00000507224.1_Missense_Mutation_p.E2042D|LRBA_ENST00000510413.1_Missense_Mutation_p.E2042D|LRBA_ENST00000357115.3_Missense_Mutation_p.E2053D	p.E2042D			P50851	LRBA_HUMAN			39	6599	-	all_hematologic(180;0.151)		2053					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6126G>T	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.862507|2.862507	0.51482|0.51482	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.47869|.	0.83;0.83;0.83;0.83|.	5.94|5.94	5.1|5.1	0.69264|0.69264	Domain of unknown function DUF1088 (1);|.	0.254929|.	0.39544|.	N|.	0.001334|.	T|T	0.54983|0.54983	0.1892|0.1892	L|L	0.41027|0.41027	1.25|1.25	0.54753|0.54753	D|D	0.999987|0.999987	B;B|.	0.25048|.	0.117;0.03|.	B;B|.	0.25884|.	0.064;0.028|.	T|T	0.49093|0.49093	-0.8975|-0.8975	10|5	0.22109|.	T|.	0.4|.	.|.	9.4796|9.4796	0.38893|0.38893	0.1434:0.7854:0.0:0.0712|0.1434:0.7854:0.0:0.0712	.|.	2053;2042|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	D|I	2042;2042;2053;2042|695	ENSP00000446299:E2042D;ENSP00000421552:E2042D;ENSP00000349629:E2053D;ENSP00000422180:E2042D|.	ENSP00000349629:E2053D|.	E|R	-|-	3|2	2|0	LRBA|LRBA	151731382|151731382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	2.356000|2.356000	0.44116|0.44116	2.817000|2.817000	0.96982|0.96982	0.557000|0.557000	0.71058|0.71058	GAG|AGA		0.413	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			34	120	1	0	2.87052e-16	1	3.07669e-16	34	120				
MYO1A	4640	broad.mit.edu	37	12	57437906	57437906	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:57437906C>T	ENST00000442789.2	-	10	1015	c.728G>A	c.(727-729)aGc>aAc	p.S243N	MYO1A_ENST00000300119.3_Missense_Mutation_p.S243N|MYO1A_ENST00000544473.1_Missense_Mutation_p.S81N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	243	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGCCCTGAAGCTGGAGGCGTC	0.562																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(727-729)aGc>aAc		myosin IA							100.0	90.0	94.0					12																	57437906		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57437906C>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.728G>A	12.37:g.57437906C>T	ENSP00000393392:p.Ser243Asn					MYO1A_ENST00000544473.1_Missense_Mutation_p.S81N|MYO1A_ENST00000300119.3_Missense_Mutation_p.S243N	p.S243N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			10	1015	-			243			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.728G>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	2.469	-0.322236	0.05350	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.71103	-0.54;-0.54;-0.54	4.81	2.5	0.30297	Myosin head, motor domain (2);	0.099755	0.64402	N	0.000003	T	0.35537	0.0935	N	0.02865	-0.47	0.25449	N	0.988025	B	0.02656	0.0	B	0.04013	0.001	T	0.33085	-0.9882	10	0.02654	T	1	.	5.3982	0.16281	0.0:0.2499:0.0:0.7501	.	243	Q9UBC5	MYO1A_HUMAN	N	243;243;81	ENSP00000300119:S243N;ENSP00000393392:S243N;ENSP00000440514:S81N	ENSP00000300119:S243N	S	-	2	0	MYO1A	55724173	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	3.489000	0.53237	0.446000	0.26666	0.563000	0.77884	AGC		0.562	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		29	127	0	0	0	1	0	29	127				
PKHD1	5314	broad.mit.edu	37	6	51613131	51613131	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:51613131C>T	ENST00000371117.3	-	58	9558	c.9283G>A	c.(9283-9285)Gtt>Att	p.V3095I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V3095I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3095					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTGCCACAACGTTGCCATGG	0.502																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9283-9285)Gtt>Att		polycystic kidney and hepatic disease 1 (autosomal recessive)							218.0	191.0	200.0					6																	51613131		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51613131C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9283G>A	6.37:g.51613131C>T	ENSP00000360158:p.Val3095Ile					PKHD1_ENST00000340994.4_Missense_Mutation_p.V3095I	p.V3095I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9558	-	Lung NSC(77;0.0605)		3095					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9283G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076998	0.20227	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80566	-1.39;-1.26	5.72	3.96	0.45880	Pectin lyase fold/virulence factor (1);	0.170942	0.39834	N	0.001249	T	0.64046	0.2563	L	0.46157	1.445	0.26407	N	0.976322	P;P;P	0.45715	0.865;0.837;0.865	B;B;B	0.43680	0.353;0.185;0.427	T	0.57499	-0.7801	10	0.41790	T	0.15	.	11.8506	0.52410	0.0:0.8589:0.0:0.1411	.	3095;3095;3095	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	I	3095	ENSP00000360158:V3095I;ENSP00000341097:V3095I	ENSP00000341097:V3095I	V	-	1	0	PKHD1	51721090	0.555000	0.26530	0.811000	0.32455	0.010000	0.07245	1.951000	0.40333	0.782000	0.33613	-0.119000	0.15052	GTT		0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	575	0	0	0	1	0	6	575				
USP24	23358	broad.mit.edu	37	1	55622657	55622657	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:55622657C>T	ENST00000294383.6	-	12	1409	c.1410G>A	c.(1408-1410)ttG>ttA	p.L470L	USP24_ENST00000407756.1_Silent_p.L358L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	470					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATCTAACGACAATTTACTAC	0.368																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1408-1410)ttG>ttA		ubiquitin specific peptidase 24							189.0	184.0	186.0					1																	55622657		1835	4091	5926	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55622657C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1410G>A	1.37:g.55622657C>T						USP24_ENST00000407756.1_Silent_p.L358L	p.L470L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			12	1409	-			470					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.1410G>A	CCDS44154.2																																																																																				0.368	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			26	226	0	0	0	1	0	26	226				
MRRF	92399	broad.mit.edu	37	9	125033141	125033141	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:125033141A>T	ENST00000344641.3	+	2	283		c.e2-1		MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000373730.3_Splice_Site|MRRF_ENST00000394315.3_5'Flank|MRRF_ENST00000373723.5_Splice_Site|MRRF_ENST00000373729.1_Intron|MRRF_ENST00000373724.1_Intron	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor						ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TATTCTTTTTAGTGGATGTTT	0.393																																						ENST00000344641.3																			0				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						c.e2-1		mitochondrial ribosome recycling factor							87.0	94.0	92.0					9																	125033141		2203	4300	6503	SO:0001630	splice_region_variant	92399				ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity	g.chr9:125033141A>T	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.-28-1A>T	9.37:g.125033141A>T						MRRF_ENST00000373728.1_Splice_Site|MRRF_ENST00000373727.1_Splice_Site|MRRF_ENST00000373723.4_Splice_Site|MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000373729.1_Intron|MRRF_ENST00000373730.3_Splice_Site		NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN			2	283	+								A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Splice_Site	SNP	ENST00000344641.3	37		CCDS6840.1																																																																																				0.393	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777	Intron	5	236	0	0	0	1	0	5	236				
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.e3-2		nuclear receptor coactivator 2							98.0	92.0	94.0					8																	71129001		1831	4100	5931	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71129001T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.19-2A>T	8.37:g.71129001T>A								NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	163	-	Breast(64;0.201)							Q14CD2	Splice_Site	SNP	ENST00000452400.2	37		CCDS47872.1																																																																																				0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Intron	7	113	0	0	0	1	0	7	113				
KDM5A	5927	broad.mit.edu	37	12	416901	416901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:416901G>A	ENST00000399788.2	-	23	4011	c.3649C>T	c.(3649-3651)Cgg>Tgg	p.R1217W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1217W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1217					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R1217W(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTCGAGACCGCATACAAAGA	0.483			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Missense(2)	p.R1217W(2)	lung(2)	NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3649-3651)Cgg>Tgg		lysine (K)-specific demethylase 5A							86.0	85.0	85.0					12																	416901		1895	4097	5992	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416901G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3649C>T	12.37:g.416901G>A	ENSP00000382688:p.Arg1217Trp					KDM5A_ENST00000382815.4_Missense_Mutation_p.R1217W	p.R1217W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	4011	-			1217					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3649C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905771	0.72868	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	T;T	0.01159	5.25;5.25	5.66	3.6	0.41247	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.09818	0.0241	M	0.92367	3.3	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01266	-1.1401	10	0.87932	D	0	-15.1453	14.4592	0.67438	0.0:0.0:0.6721:0.3278	.	1217;1217	P29375;P29375-2	KDM5A_HUMAN;.	W	1217	ENSP00000382688:R1217W;ENSP00000372265:R1217W	ENSP00000372265:R1217W	R	-	1	2	KDM5A	287162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.977000	0.63792	0.630000	0.30394	0.585000	0.79938	CGG		0.483	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		4	121	0	0	0	1	0	4	121				
GMEB1	10691	broad.mit.edu	37	1	29019452	29019452	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:29019452A>T	ENST00000294409.2	+	5	456		c.e5-1		GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000373816.1_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTACTTTTAGTTCAATGAT	0.403																																						ENST00000373816.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11						c.e5-1		glucocorticoid modulatory element binding protein 1							110.0	101.0	104.0					1																	29019452		2203	4300	6503	SO:0001630	splice_region_variant	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29019452A>T	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.367-1A>T	1.37:g.29019452A>T						GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000294409.2_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site		NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	5	474	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)						B1AT48|Q9NWH1|Q9UKD0	Splice_Site	SNP	ENST00000294409.2	37		CCDS327.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528904	0.85706	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5272	0.75919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GMEB1	28892039	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	7.283000	0.78640	2.311000	0.77944	0.533000	0.62120	.		0.403	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582	Intron	4	90	0	0	0	1	0	4	90				
HIST2H2AB	317772	broad.mit.edu	37	1	149859383	149859383	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:149859383C>T	ENST00000331128.3	-	1	83	c.84G>A	c.(82-84)gtG>gtA	p.V28V	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	28						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCACTCGCCCCACCGGGAACT	0.682																																						ENST00000331128.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(82-84)gtG>gtA		histone cluster 2, H2ab							50.0	57.0	55.0					1																	149859383		2202	4297	6499	SO:0001819	synonymous_variant	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859383C>T	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.84G>A	1.37:g.149859383C>T							p.V28V	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	83	-	Breast(34;0.0124)|all_hematologic(923;0.127)		28						Silent	SNP	ENST00000331128.3	37	c.84G>A	CCDS938.1																																																																																				0.682	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		5	324	0	0	0	1	0	5	324				
LELP1	149018	broad.mit.edu	37	1	153177408	153177408	+	Silent	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:153177408C>A	ENST00000368747.1	+	2	335	c.225C>A	c.(223-225)acC>acA	p.T75T		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	75	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCCTGCACCAAGCCCTGTC	0.627																																						ENST00000368747.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19						c.(223-225)acC>acA		late cornified envelope-like proline-rich 1							118.0	94.0	102.0					1																	153177408		2203	4300	6503	SO:0001819	synonymous_variant	149018							g.chr1:153177408C>A		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.225C>A	1.37:g.153177408C>A							p.T75T	NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	335	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		75			Cys/Pro-rich.		A1L4E1	Silent	SNP	ENST00000368747.1	37	c.225C>A	CCDS30869.1																																																																																				0.627	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		34	127	1	0	8.4185e-14	1	8.97357e-14	34	127				
NAE1	8883	broad.mit.edu	37	16	66844677	66844677	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:66844677T>A	ENST00000290810.3	-	14	1132		c.e14-2		NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000394074.2_Splice_Site|NAE1_ENST00000379463.2_Splice_Site			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TCACGGTAACTAAAAAAGAAT	0.343																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.e15-2		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						91.0	89.0	90.0					16																	66844677		2200	4300	6500	SO:0001630	splice_region_variant	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66844677T>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1035-2A>T	16.37:g.66844677T>A						NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site|NAE1_ENST00000394074.2_Splice_Site		NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	15	1209	-		Ovarian(137;0.0563)						A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Splice_Site	SNP	ENST00000290810.3	37		CCDS10820.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.040061	0.55003	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7654	0.78123	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAE1	65402178	1.000000	0.71417	0.965000	0.40720	0.581000	0.36288	6.861000	0.75478	2.127000	0.65507	0.533000	0.62120	.		0.343	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905	Intron	9	147	0	0	0	1	0	9	147				
OR4A47	403253	broad.mit.edu	37	11	48511101	48511101	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:48511101A>T	ENST00000446524.1	+	1	833	c.757A>T	c.(757-759)Att>Ttt	p.I253F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGTTCCTTGTATTTTTATGTA	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(757-759)Att>Ttt		olfactory receptor, family 4, subfamily A, member 47							210.0	203.0	206.0					11																	48511101		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511101A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.757A>T	11.37:g.48511101A>T	ENSP00000412752:p.Ile253Phe						p.I253F	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	833	+			253						Missense_Mutation	SNP	ENST00000446524.1	37	c.757A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	12.88	2.071358	0.36566	.	.	ENSG00000237388	ENST00000446524	T	0.38887	1.11	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.112422	0.39759	N	0.001267	T	0.53254	0.1785	L	0.49256	1.55	0.34554	D	0.711651	D	0.71674	0.998	D	0.70935	0.971	T	0.66284	-0.5962	10	0.87932	D	0	.	7.5947	0.28041	0.8099:0.0:0.0:0.1901	.	253	Q6IF82	O4A47_HUMAN	F	253	ENSP00000412752:I253F	ENSP00000412752:I253F	I	+	1	0	OR4A47	48467677	0.000000	0.05858	1.000000	0.80357	0.308000	0.27856	0.243000	0.18106	1.692000	0.51112	0.172000	0.16884	ATT		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		8	854	0	0	0	1	0	8	854				
ZBTB1	22890	broad.mit.edu	37	14	64988623	64988623	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr14:64988623A>T	ENST00000554015.1	+	4	832	c.401A>T	c.(400-402)cAg>cTg	p.Q134L	ZBTB1_ENST00000358738.3_Missense_Mutation_p.Q134L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.Q134L|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	134					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TCCAGCAAACAGAACAGCAAA	0.418																																						ENST00000358738.3																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(400-402)cAg>cTg		zinc finger and BTB domain containing 1							107.0	108.0	108.0					14																	64988623		2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64988623A>T	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.401A>T	14.37:g.64988623A>T	ENSP00000451000:p.Gln134Leu					RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Missense_Mutation_p.Q134L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.Q134L	p.Q134L	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	2	792	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	134					A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.401A>T	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.236555	0.22711	.	.	ENSG00000126804	ENST00000553583;ENST00000554015;ENST00000358738;ENST00000394712	T;T;T;T	0.59906	0.23;2.89;3.45;2.89	5.91	4.78	0.61160	.	0.342197	0.26567	N	0.023647	T	0.39200	0.1069	N	0.12182	0.205	0.38834	D	0.955913	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39210	-0.9625	10	0.72032	D	0.01	-8.0448	11.4297	0.50032	0.9304:0.0:0.0696:0.0	.	134;134	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	L	134	ENSP00000451584:Q134L;ENSP00000451000:Q134L;ENSP00000351587:Q134L;ENSP00000378201:Q134L	ENSP00000351587:Q134L	Q	+	2	0	ZBTB1	64058376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.036000	0.57304	2.254000	0.74563	0.533000	0.62120	CAG		0.418	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			26	114	0	0	0	1	0	26	114				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	9	1	0	0.00909568	1	0.00928717	3	9				
A2ML1	144568	broad.mit.edu	37	12	8998036	8998036	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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	100	0	0	0	1	0	5	100				
EP300	2033	broad.mit.edu	37	22	41566408	41566408	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:41566408A>T	ENST00000263253.7	+	27	5505		c.e27-1		RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						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						TTGTATTGTTAGTTACACAAC	0.383			"""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.e27-1		E1A binding protein p300							109.0	99.0	102.0					22																	41566408		2203	4300	6503	SO:0001630	splice_region_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.chr22:41566408A>T	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.4287-1A>T	22.37:g.41566408A>T						RP1-85F18.6_ENST00000415054.1_RNA		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			27	5505	+								B1AKC2	Splice_Site	SNP	ENST00000263253.7	37		CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946030	0.73672	.	.	ENSG00000100393	ENST00000263253	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2125	0.48806	0.8466:0.1534:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39896354	1.000000	0.71417	0.662000	0.29724	0.510000	0.34073	9.237000	0.95368	2.121000	0.65114	0.533000	0.62120	.		0.383	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Intron	4	137	0	0	0	1	0	4	137				
DNAJA4	55466	broad.mit.edu	37	15	78572439	78572439	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:78572439C>G	ENST00000394852.3	+	6	1120	c.930C>G	c.(928-930)ccC>ccG	p.P310P	DNAJA4_ENST00000394855.3_Silent_p.P339P|DNAJA4_ENST00000343789.3_Silent_p.P310P|RP11-762H8.4_ENST00000558192.1_RNA|DNAJA4_ENST00000446172.2_Silent_p.P283P	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	310					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AAGGAATGCCCATCTACAAAG	0.458																																						ENST00000394855.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(1015-1017)ccC>ccG		DnaJ (Hsp40) homolog, subfamily A, member 4							106.0	91.0	96.0					15																	78572439		2196	4293	6489	SO:0001819	synonymous_variant	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78572439C>G	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.930C>G	15.37:g.78572439C>G						DNAJA4_ENST00000446172.2_Silent_p.P283P|DNAJA4_ENST00000394852.3_Silent_p.P310P|DNAJA4_ENST00000343789.3_Silent_p.P310P	p.P339P	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN			7	1245	+			310					E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Silent	SNP	ENST00000394852.3	37	c.1017C>G	CCDS45316.1																																																																																				0.458	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		39	163	0	0	0	1	0	39	163				
FNIP1	96459	broad.mit.edu	37	5	131007746	131007746	+	Silent	SNP	A	A	T	rs75277328	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:131007746A>T	ENST00000510461.1	-	14	2486	c.2391T>A	c.(2389-2391)acT>acA	p.T797T	FNIP1_ENST00000307968.7_Silent_p.T769T|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.T752T	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	797					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTGTTTGTTTAGTTTCTTGAT	0.443																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2305-2307)acT>acA		folliculin interacting protein 1							216.0	199.0	204.0					5																	131007746		2203	4300	6503	SO:0001819	synonymous_variant	96459							g.chr5:131007746A>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2391T>A	5.37:g.131007746A>T						FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.T752T|FNIP1_ENST00000510461.1_Silent_p.T797T	p.T769T	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2306	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.2307T>A	CCDS34227.1																																																																																				0.443	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		6	450	0	0	0	1	0	6	450				
ASTN1	460	broad.mit.edu	37	1	176993851	176993851	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:176993851G>A	ENST00000367654.3	-	6	1349	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	ASTN1_ENST00000361833.2_Missense_Mutation_p.P380S|ASTN1_ENST00000367657.3_Missense_Mutation_p.P380S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.P380S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	380					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTATTCACAGGACTTCGGGGA	0.493																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1138-1140)Cct>Tct		astrotactin 1							130.0	105.0	114.0					1																	176993851		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176993851G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1138C>T	1.37:g.176993851G>A	ENSP00000356626:p.Pro380Ser					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.P380S|ASTN1_ENST00000424564.2_Missense_Mutation_p.P380S|ASTN1_ENST00000361833.2_Missense_Mutation_p.P380S	p.P380S			O14525	ASTN1_HUMAN			6	1151	-			380					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1138C>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.254275	0.80135	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.20463	2.07;2.48;2.46;2.08	5.27	4.36	0.52297	.	0.052212	0.85682	N	0.000000	T	0.19967	0.0480	L	0.34521	1.04	0.80722	D	1	B;B;B	0.26602	0.154;0.035;0.035	B;B;B	0.31751	0.135;0.019;0.034	T	0.04930	-1.0917	10	0.87932	D	0	-15.1469	13.2884	0.60255	0.077:0.0:0.923:0.0	.	380;380;380	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	380	ENSP00000356629:P380S;ENSP00000354536:P380S;ENSP00000356626:P380S;ENSP00000395041:P380S	ENSP00000354536:P380S	P	-	1	0	ASTN1	175260474	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.291000	0.96070	1.217000	0.43442	0.655000	0.94253	CCT		0.493	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		39	184	0	0	0	1	0	39	184				
HBE1	3046	broad.mit.edu	37	11	5289815	5289815	+	Missense_Mutation	SNP	C	C	T	rs374123155		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:5289815C>T	ENST00000380237.1	-	5	672	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	HBE1_ENST00000292896.2_Missense_Mutation_p.V110M|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	110					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCACCATCACGTTACCCAGG	0.463																																						ENST00000380237.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(328-330)Gtg>Atg		hemoglobin, epsilon 1		C	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	173.0	156.0	162.0		328	5.2	0.6	11		162	0,8596		0,0,4298	no	missense	HBE1	NM_005330.3	21	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	110/148	5289815	1,12997	2201	4298	6499	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289815C>T	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.328G>A	11.37:g.5289815C>T	ENSP00000369586:p.Val110Met					HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.V110M	p.V110M			P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	672	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	110					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.328G>A	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099913	0.37048	2.27E-4	0.0	ENSG00000213931	ENST00000380237;ENST00000292896	D;D	0.93426	-3.22;-3.22	6.06	5.15	0.70609	Globin-like (1);Globin, structural domain (1);	0.262249	0.30277	U	0.009983	D	0.89111	0.6622	L	0.46741	1.465	0.19945	N	0.999941	B	0.26577	0.153	B	0.26517	0.07	T	0.77915	-0.2409	10	0.24483	T	0.36	-15.6262	9.192	0.37204	0.0:0.8384:0.0:0.1616	.	110	P02100	HBE_HUMAN	M	110	ENSP00000369586:V110M;ENSP00000292896:V110M	ENSP00000292896:V110M	V	-	1	0	HBE1	5246391	0.029000	0.19370	0.640000	0.29408	0.788000	0.44548	0.267000	0.18552	1.582000	0.49881	0.655000	0.94253	GTG		0.463	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		7	801	0	0	0	1	0	7	801				
SUPT5H	6829	broad.mit.edu	37	19	39966943	39966943	+	Silent	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:39966943G>C	ENST00000599117.1	+	31	3535	c.3168G>C	c.(3166-3168)ctG>ctC	p.L1056L	SUPT5H_ENST00000598725.1_Silent_p.L1056L|SUPT5H_ENST00000359191.6_Silent_p.L1052L|SUPT5H_ENST00000402194.2_Silent_p.L1052L|SUPT5H_ENST00000432763.2_Silent_p.L1056L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1056					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCGTCCTACTGAGCATTGATG	0.587																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(3166-3168)ctG>ctC		suppressor of Ty 5 homolog (S. cerevisiae)							120.0	97.0	105.0					19																	39966943		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39966943G>C	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.3168G>C	19.37:g.39966943G>C						SUPT5H_ENST00000598725.1_Silent_p.L1056L|SUPT5H_ENST00000402194.2_Silent_p.L1052L|SUPT5H_ENST00000432763.2_Silent_p.L1056L|SUPT5H_ENST00000359191.6_Silent_p.L1052L	p.L1056L			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		31	3535	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		1056					O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.3168G>C	CCDS12536.1																																																																																				0.587	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		4	459	0	0	0	1	0	4	459				
FBXL7	23194	broad.mit.edu	37	5	15928017	15928017	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:15928017G>A	ENST00000504595.1	+	3	627	c.146G>A	c.(145-147)cGc>cAc	p.R49H	FBXL7_ENST00000329673.7_Missense_Mutation_p.R37H|FBXL7_ENST00000510662.1_Missense_Mutation_p.R2H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	49					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R49H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTGAGCATGCGCACACTGAGC	0.572																																						ENST00000504595.1																			1	Substitution - Missense(1)	p.R49H(1)	prostate(1)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(145-147)cGc>cAc		F-box and leucine-rich repeat protein 7							89.0	97.0	94.0					5																	15928017		2084	4217	6301	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928017G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.146G>A	5.37:g.15928017G>A	ENSP00000423630:p.Arg49His					FBXL7_ENST00000510662.1_Missense_Mutation_p.R2H|FBXL7_ENST00000329673.7_Missense_Mutation_p.R37H	p.R49H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	627	+			49					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.146G>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514959	0.85389	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.12465	2.88;2.68;2.89	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.01666	-1.1300	10	0.35671	T	0.21	.	19.2506	0.93923	0.0:0.0:1.0:0.0	.	49	Q9UJT9	FBXL7_HUMAN	H	49;2;37	ENSP00000423630:R49H;ENSP00000425184:R2H;ENSP00000329632:R37H	ENSP00000329632:R37H	R	+	2	0	FBXL7	15981017	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.206000	0.95056	2.571000	0.86741	0.563000	0.77884	CGC		0.572	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		4	365	0	0	0	1	0	4	365				
MUC2	4583	broad.mit.edu	37	11	1087470	1087470	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:1087470C>A	ENST00000441003.2	+	24	3248	c.3221C>A	c.(3220-3222)gCc>gAc	p.A1074D	MUC2_ENST00000359061.5_Missense_Mutation_p.A1074D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1074					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TTCTACGAGGCCTGTGTGCAC	0.657																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3220-3222)gCc>gAc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						72.0	86.0	81.0					11																	1087470		2156	4249	6405	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1087470C>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3221C>A	11.37:g.1087470C>A	ENSP00000415183:p.Ala1074Asp					MUC2_ENST00000359061.5_Missense_Mutation_p.A1074D	p.A1074D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	24	3248	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1074					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3221C>A		.	.	.	.	.	.	.	.	.	.	c	14.44	2.537011	0.45176	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.77489	-1.1;-1.1	3.62	3.62	0.41486	.	0.359030	0.20301	U	0.095022	D	0.87289	0.6140	M	0.75264	2.295	0.25582	N	0.986785	D	0.76494	0.999	D	0.87578	0.998	T	0.80386	-0.1404	10	0.87932	D	0	.	15.867	0.79071	0.0:1.0:0.0:0.0	.	1074	E7EUV1	.	D	1074	ENSP00000415183:A1074D;ENSP00000351956:A1074D	ENSP00000351956:A1074D	A	+	2	0	MUC2	1077470	0.985000	0.35326	0.998000	0.56505	0.595000	0.36748	2.257000	0.43240	2.028000	0.59812	0.479000	0.44913	GCC		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	6	1	0	5.18039e-06	1	5.43241e-06	6	6				
SNHG14	104472715	broad.mit.edu	37	15	25332876	25332876	+	RNA	SNP	T	T	C	rs143221036	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:25332876T>C	ENST00000546682.1	+	0	586				SNORD116-20_ENST00000384507.1_lincRNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-18_ENST00000383961.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AACTCTATACTGTCATCCTCG	0.448													C|||	7	0.00139776	0.0053	0.0	5008	,	,		22353	0.0		0.0	False		,,,				2504	0.0					ENST00000546682.1																			0															C		5,1747		0,5,871	266.0	232.0	243.0			-0.1	0.0	15	dbSNP_134	243	4,3978		0,4,1987	no	intergenic				0,9,2858	CC,CT,TT		0.1005,0.2854,0.157			25332876	9,5725	876	1991	2867			104472715							g.chr15:25332876T>C			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.25332876T>C						SNHG14_ENST00000549804.2_RNA|SNORD116-21_ENST00000384529.1_lincRNA|SNHG14_ENST00000553108.1_RNA		NR_003361.1						0	586	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.448	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			5	483	0	0	0	1	0	5	483				
DMXL2	23312	broad.mit.edu	37	15	51758414	51758414	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:51758414T>C	ENST00000251076.5	-	30	7771	c.7484A>G	c.(7483-7485)cAa>cGa	p.Q2495R	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q1859R|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2496R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2495						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTCCTGTATTTGTGTATCTGA	0.313																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(7483-7485)cAa>cGa		Dmx-like 2							103.0	106.0	105.0					15																	51758414		2195	4291	6486	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51758414T>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7484A>G	15.37:g.51758414T>C	ENSP00000251076:p.Gln2495Arg					DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2496R|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q1859R	p.Q2495R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	30	7771	-			2495					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7484A>G	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.865800	0.51588	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.24908	1.97;1.97;1.83	5.16	4.04	0.47022	.	0.053994	0.85682	N	0.000000	T	0.27241	0.0668	M	0.61703	1.905	0.51767	D	0.999934	B;B;B;B	0.13145	0.0;0.007;0.0;0.003	B;B;B;B	0.10450	0.003;0.005;0.001;0.005	T	0.06552	-1.0820	10	0.62326	D	0.03	.	10.8924	0.47002	0.0:0.0734:0.0:0.9266	.	2496;1859;2495;2496	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	R	2495;2496;1859;40	ENSP00000251076:Q2495R;ENSP00000441858:Q2496R;ENSP00000400855:Q1859R	ENSP00000251076:Q2495R	Q	-	2	0	DMXL2	49545706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.337000	0.59310	0.991000	0.38814	0.533000	0.62120	CAA		0.313	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		14	56	0	0	0	1	0	14	56				
IFIT1	3434	broad.mit.edu	37	10	91162071	91162071	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:91162071T>A	ENST00000371804.3	+	2	206	c.39T>A	c.(37-39)agT>agA	p.S13R	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_De_novo_Start_InFrame	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	13					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TCAAGGATAGTCTGGAGCAAT	0.353																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15								interferon-induced protein with tetratricopeptide repeats 1							124.0	115.0	118.0					10																	91162071		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162071T>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.39T>A	10.37:g.91162071T>A	ENSP00000360869:p.Ser13Arg					IFIT1_ENST00000371804.3_Missense_Mutation_p.S13R|LIPA_ENST00000371837.1_Intron		NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			0	1233	+								B3KS50|D3DR31|Q5T7J1|Q96QM5	Translation_Start_Site	SNP	ENST00000371804.3	37		CCDS31243.1	.	.	.	.	.	.	.	.	.	.	T	9.492	1.100908	0.20552	.	.	ENSG00000185745	ENST00000371804	T	0.13901	2.55	5.02	-2.78	0.05859	.	0.764258	0.12047	N	0.504460	T	0.06188	0.0160	N	0.19112	0.55	0.44780	D	0.997789	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.40327	-0.9569	10	0.14656	T	0.56	.	5.3139	0.15845	0.0828:0.5106:0.1885:0.2182	.	13;13	Q5T7J1;P09914	.;IFIT1_HUMAN	R	13	ENSP00000360869:S13R	ENSP00000360869:S13R	S	+	3	2	IFIT1	91152051	0.001000	0.12720	0.002000	0.10522	0.083000	0.17756	-1.401000	0.02502	-0.339000	0.08401	-1.252000	0.01501	AGT		0.353	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		57	340	0	0	0	1	0	57	340				
BMP3	651	broad.mit.edu	37	4	81952663	81952663	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:81952663A>T	ENST00000282701.2	+	1	545	c.225A>T	c.(223-225)acA>acT	p.T75T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	75					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CGGCCCGGACACCGGGCTCCC	0.687																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(223-225)acA>acT		bone morphogenetic protein 3							17.0	20.0	19.0					4																	81952663		2200	4298	6498	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81952663A>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.225A>T	4.37:g.81952663A>T							p.T75T	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			1	545	+			75					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.225A>T	CCDS3588.1																																																																																				0.687	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			10	38	0	0	0	1	0	10	38				
PDCD6IP	10015	broad.mit.edu	37	3	33887039	33887039	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:33887039A>T	ENST00000307296.3	+	12	1977	c.1600A>T	c.(1600-1602)Atc>Ttc	p.I534F	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.I539F			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	534	Interaction with EIAV p9.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GAATGCTGCCATCCCTTCTGC	0.468																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(1600-1602)Atc>Ttc		programmed cell death 6 interacting protein							111.0	91.0	98.0					3																	33887039		2203	4298	6501	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33887039A>T	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1600A>T	3.37:g.33887039A>T	ENSP00000307387:p.Ile534Phe					PDCD6IP_ENST00000457054.2_Missense_Mutation_p.I539F	p.I534F			Q8WUM4	PDC6I_HUMAN			12	1977	+			534			Interaction with EIAV p9.|Self-association.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.1600A>T	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	A	33	5.262669	0.95399	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.33216	1.42;1.42	5.35	5.35	0.76521	.	0.159135	0.53938	D	0.000046	T	0.49253	0.1546	M	0.67953	2.075	0.80722	D	1	D;D;D	0.69078	0.98;0.991;0.997	P;P;P	0.58928	0.637;0.801;0.848	T	0.47711	-0.9096	10	0.42905	T	0.14	-11.4853	15.3395	0.74284	1.0:0.0:0.0:0.0	.	315;539;534	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	F	534;539	ENSP00000307387:I534F;ENSP00000411825:I539F	ENSP00000307387:I534F	I	+	1	0	PDCD6IP	33862043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.228000	0.95250	2.032000	0.59987	0.455000	0.32223	ATC		0.468	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			35	178	0	0	0	1	0	35	178				
EP300	2033	broad.mit.edu	37	22	41566499	41566499	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:41566499A>T	ENST00000263253.7	+	27	5595	c.4376A>T	c.(4375-4377)aAg>aTg	p.K1459M	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1459	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				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)	p.P1458_K1459delPK(1)		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						AAGATACCCAAGCCCAAGCGA	0.468			"""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"""		1	Deletion - In frame(1)	p.P1458_K1459delPK(1)	urinary_tract(1)	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.(4375-4377)aAg>aTg		E1A binding protein p300							135.0	119.0	124.0					22																	41566499		2203	4300	6503	SO:0001583	missense	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.chr22:41566499A>T	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.4376A>T	22.37:g.41566499A>T	ENSP00000263253:p.Lys1459Met					RP1-85F18.6_ENST00000415054.1_RNA	p.K1459M	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			27	5595	+			1459					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4376A>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266175	0.80358	.	.	ENSG00000100393	ENST00000263253	D	0.94457	-3.43	5.5	5.5	0.81552	.	0.000000	0.50627	D	0.000114	D	0.98099	0.9373	H	0.95224	3.64	0.51233	D	0.999915	D	0.89917	1.0	D	0.91635	0.999	D	0.99457	1.0942	10	0.87932	D	0	-12.2287	15.6131	0.76744	1.0:0.0:0.0:0.0	.	1459	Q09472	EP300_HUMAN	M	1459	ENSP00000263253:K1459M	ENSP00000263253:K1459M	K	+	2	0	EP300	39896445	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.237000	0.95368	2.084000	0.62774	0.533000	0.62120	AAG		0.468	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		36	170	0	0	0	1	0	36	170				
DTYMK	1841	broad.mit.edu	37	2	242625274	242625274	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:242625274C>T	ENST00000305784.2	-	2	356	c.149G>A	c.(148-150)gGc>gAc	p.G50D	DTYMK_ENST00000493095.1_5'UTR	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	50					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)	p.G50D(2)		NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CAGAAGTTTGCCGATTTCAGT	0.388																																						ENST00000305784.2																			2	Substitution - Missense(2)	p.G50D(2)	urinary_tract(1)|lung(1)	NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(148-150)gGc>gAc		deoxythymidylate kinase (thymidylate kinase)							139.0	135.0	137.0					2																	242625274		2203	4296	6499	SO:0001583	missense	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242625274C>T	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.149G>A	2.37:g.242625274C>T	ENSP00000304802:p.Gly50Asp					DTYMK_ENST00000493095.1_5'UTR	p.G50D	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	2	356	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	50					B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	ENST00000305784.2	37	c.149G>A	CCDS2552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.846784|4.846784	0.91277|0.91277	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000420144|ENST00000305784	.|T	.|0.62639	.|0.01	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86875|0.86875	0.6038|0.6038	H|H	0.96805|0.96805	3.885|3.885	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.91331|0.91331	0.5090|0.5090	5|10	.|0.87932	.|D	.|0	-30.7029|-30.7029	19.0388|19.0388	0.92989|0.92989	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|50;50	.|B7ZW70;P23919	.|.;KTHY_HUMAN	T|D	7|50	.|ENSP00000304802:G50D	.|ENSP00000304802:G50D	A|G	-|-	1|2	0|0	DTYMK|DTYMK	242273947|242273947	1.000000|1.000000	0.71417|0.71417	0.796000|0.796000	0.32109|0.32109	0.873000|0.873000	0.50193|0.50193	6.750000|6.750000	0.74888|0.74888	2.472000|2.472000	0.83506|0.83506	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.388	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145		3	122	0	0	0	1	0	3	122				
PEPD	5184	broad.mit.edu	37	19	33882216	33882216	+	Silent	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:33882216C>A	ENST00000244137.7	-	13	1170	c.1137G>T	c.(1135-1137)gtG>gtT	p.V379V	PEPD_ENST00000436370.3_Silent_p.V315V|PEPD_ENST00000397032.4_Silent_p.V338V|PEPD_ENST00000591968.1_5'UTR	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	379					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GGTAGCCTCCCACGTCGTGCA	0.667																																						ENST00000244137.6																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17						c.(1135-1137)gtG>gtT		peptidase D							25.0	29.0	28.0					19																	33882216		2102	4217	6319	SO:0001819	synonymous_variant	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33882216C>A	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1137G>T	19.37:g.33882216C>A						PEPD_ENST00000436370.3_Silent_p.V315V|PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000397032.4_Silent_p.V338V	p.V379V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN			13	1170	-	Esophageal squamous(110;0.137)		379					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Silent	SNP	ENST00000244137.7	37	c.1137G>T	CCDS42544.1																																																																																				0.667	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		6	13	1	0	1	1	1	6	13				
DECR2	26063	broad.mit.edu	37	16	460737	460737	+	Missense_Mutation	SNP	G	G	T	rs370736528		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:460737G>T	ENST00000219481.5	+	6	647	c.509G>T	c.(508-510)cGg>cTg	p.R170L	DECR2_ENST00000424398.2_Missense_Mutation_p.R158L|DECR2_ENST00000461947.1_3'UTR	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	170					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CTGGGGAACCGGGGGCAGGCG	0.701																																						ENST00000219481.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(508-510)cGg>cTg		2,4-dienoyl CoA reductase 2, peroxisomal							17.0	21.0	20.0					16																	460737		2191	4296	6487	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:460737G>T	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.509G>T	16.37:g.460737G>T	ENSP00000219481:p.Arg170Leu					DECR2_ENST00000424398.2_Missense_Mutation_p.R158L|DECR2_ENST00000461947.1_3'UTR	p.R170L	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN			6	647	+		Hepatocellular(16;0.00015)	170					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.509G>T	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004674	0.35320	.	.	ENSG00000242612	ENST00000219481;ENST00000424398	T;T	0.51574	0.7;0.7	5.65	4.69	0.59074	NAD(P)-binding domain (1);	0.196912	0.52532	D	0.000076	T	0.37237	0.0996	L	0.28458	0.855	0.80722	D	1	P	0.46395	0.877	P	0.45138	0.471	T	0.04991	-1.0913	10	0.11794	T	0.64	.	13.0965	0.59195	0.077:0.0:0.923:0.0	.	170	Q9NUI1	DECR2_HUMAN	L	170;158	ENSP00000219481:R170L;ENSP00000400374:R158L	ENSP00000219481:R170L	R	+	2	0	DECR2	400738	1.000000	0.71417	0.876000	0.34364	0.509000	0.34042	6.355000	0.73041	2.674000	0.91012	0.555000	0.69702	CGG		0.701	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		2	2	1	0	1	1	1	2	2				
C2orf47	79568	broad.mit.edu	37	2	200826508	200826508	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:200826508G>C	ENST00000392290.1	+	4	850	c.654G>C	c.(652-654)agG>agC	p.R218S	C2orf47_ENST00000295079.2_Missense_Mutation_p.R218S|C2orf47_ENST00000469156.1_Intron			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	218						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						TCTAAGGAAGGAAGTTTGTTA	0.358																																						ENST00000295079.2																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						c.(652-654)agG>agC		chromosome 2 open reading frame 47							97.0	88.0	91.0					2																	200826508		2203	4300	6503	SO:0001583	missense	79568					mitochondrion		g.chr2:200826508G>C	BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.654G>C	2.37:g.200826508G>C	ENSP00000376111:p.Arg218Ser					C2orf47_ENST00000392290.1_Missense_Mutation_p.R218S|C2orf47_ENST00000469156.1_Intron	p.R218S	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN			5	976	+			218					Q658V9|Q9H671	Missense_Mutation	SNP	ENST00000392290.1	37	c.654G>C	CCDS2329.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178787	0.78564	.	.	ENSG00000162972	ENST00000295079;ENST00000392290	T;T	0.50813	0.73;0.73	6.06	6.06	0.98353	.	0.052233	0.64402	D	0.000001	T	0.61862	0.2381	L	0.59436	1.845	0.49798	D	0.999824	D	0.71674	0.998	D	0.66351	0.943	T	0.63024	-0.6729	10	0.72032	D	0.01	-16.4437	11.4709	0.50268	0.0811:0.0:0.9189:0.0	.	218	Q8WWC4	CB047_HUMAN	S	218	ENSP00000295079:R218S;ENSP00000376111:R218S	ENSP00000295079:R218S	R	+	3	2	C2orf47	200534753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.842000	0.48230	2.880000	0.98712	0.650000	0.86243	AGG		0.358	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520		8	46	0	0	0	1	0	8	46				
TUBGCP3	10426	broad.mit.edu	37	13	113219494	113219494	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr13:113219494T>A	ENST00000261965.3	-	3	371		c.e3-2		TUBGCP3_ENST00000375669.3_Splice_Site	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTCGAATAACTGAAAAGACAG	0.363																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.e3-2		tubulin, gamma complex associated protein 3							130.0	130.0	130.0					13																	113219494		2203	4300	6503	SO:0001630	splice_region_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113219494T>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.185-2A>T	13.37:g.113219494T>A						TUBGCP3_ENST00000375669.3_Splice_Site		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			3	371	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)							O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Splice_Site	SNP	ENST00000261965.3	37		CCDS9525.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662193	0.47572	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2044	0.65725	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TUBGCP3	112267495	1.000000	0.71417	0.889000	0.34880	0.400000	0.30750	6.903000	0.75703	1.836000	0.53414	0.519000	0.50382	.		0.363	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	Intron	4	174	0	0	0	1	0	4	174				
SATB2	23314	broad.mit.edu	37	2	200213434	200213434	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:200213434T>C	ENST00000417098.1	-	7	1979	c.1163A>G	c.(1162-1164)aAc>aGc	p.N388S	SATB2_ENST00000443023.1_Missense_Mutation_p.N329S|SATB2_ENST00000260926.5_Missense_Mutation_p.N388S|SATB2_ENST00000457245.1_Missense_Mutation_p.N388S|SATB2_ENST00000428695.1_Missense_Mutation_p.N270S	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	388					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTGTGCGGTTGAATGCCAC	0.403																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(985-987)aAc>aGc		SATB homeobox 2							117.0	114.0	115.0					2																	200213434		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200213434T>C	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1163A>G	2.37:g.200213434T>C	ENSP00000401112:p.Asn388Ser					SATB2_ENST00000417098.1_Missense_Mutation_p.N388S|SATB2_ENST00000457245.1_Missense_Mutation_p.N388S|SATB2_ENST00000428695.1_Missense_Mutation_p.N270S|SATB2_ENST00000260926.5_Missense_Mutation_p.N388S	p.N329S			Q9UPW6	SATB2_HUMAN			6	2451	-			388					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.986A>G	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526025	0.85600	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.54279	0.6;0.62;0.6;0.58;0.6	5.72	5.72	0.89469	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	L	0.42245	1.32	0.58432	D	0.999998	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.923;0.998;0.987	T	0.68254	-0.5457	10	0.62326	D	0.03	-5.8028	16.0102	0.80396	0.0:0.0:0.0:1.0	.	270;136;388	Q3ZB87;Q9H726;Q9UPW6	.;.;SATB2_HUMAN	S	388;329;388;270;388	ENSP00000401112:N388S;ENSP00000388764:N329S;ENSP00000260926:N388S;ENSP00000388581:N270S;ENSP00000405420:N388S	ENSP00000260926:N388S	N	-	2	0	SATB2	199921679	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	2.190000	0.69967	0.533000	0.62120	AAC		0.403	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		33	172	0	0	0	1	0	33	172				
MITF	4286	broad.mit.edu	37	3	69928509	69928509	+	Missense_Mutation	SNP	C	C	T	rs190215588		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:69928509C>T	ENST00000448226.2	+	2	456	c.329C>T	c.(328-330)aCg>aTg	p.T110M	MITF_ENST00000394355.2_Missense_Mutation_p.T85M|MITF_ENST00000472437.1_Missense_Mutation_p.T58M|MITF_ENST00000352241.4_Missense_Mutation_p.T110M|MITF_ENST00000314589.5_Missense_Mutation_p.T94M|MITF_ENST00000328528.6_Missense_Mutation_p.T109M			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	110					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCCTCTGCCACGCAGGTGCCG	0.527			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						C|||	1	0.000199681	0.0	0.0014	5008	,	,		19008	0.0		0.0	False		,,,				2504	0.0				Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(328-330)aCg>aTg		microphthalmia-associated transcription factor		C	MET/THR,MET/THR,MET/THR,MET/THR	0,4280		0,0,2140	59.0	68.0	65.0		173,326,329,281	6.0	1.0	3		65	3,8487		0,3,4242	yes	missense,missense,missense,missense	MITF	NM_001184967.1,NM_006722.2,NM_198159.2,NM_198177.2	81,81,81,81	0,3,6382	TT,TC,CC		0.0353,0.0,0.0235	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	58/469,109/520,110/521,94/505	69928509	3,12767	2140	4245	6385	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69928509C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.329C>T	3.37:g.69928509C>T	ENSP00000391803:p.Thr110Met					MITF_ENST00000328528.6_Missense_Mutation_p.T109M|MITF_ENST00000448226.2_Missense_Mutation_p.T110M|MITF_ENST00000314589.5_Missense_Mutation_p.T94M|MITF_ENST00000472437.1_Missense_Mutation_p.T58M|MITF_ENST00000394355.2_Missense_Mutation_p.T85M	p.T110M	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	2	492	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	110					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.329C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.71	3.457179	0.63401	0.0	3.53E-4	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000429090;ENST00000433517;ENST00000472437;ENST00000457080;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355	T;T;T;T;T;T;T;T	0.45276	2.76;2.28;2.56;0.9;2.75;1.96;2.76;2.78	6.02	6.02	0.97574	.	0.259337	0.45361	D	0.000380	T	0.27027	0.0662	N	0.17474	0.49	0.50632	D	0.999887	B;P;P;B;P	0.36125	0.266;0.538;0.538;0.227;0.538	B;B;B;B;B	0.22601	0.012;0.04;0.04;0.024;0.04	T	0.05305	-1.0893	9	.	.	.	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	58;85;94;109;110	E9PFN0;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.	M	110;110;58;58;58;109;109;94;94;85	ENSP00000295600:T110M;ENSP00000391803:T110M;ENSP00000418845:T58M;ENSP00000391276:T109M;ENSP00000327867:T109M;ENSP00000398639:T94M;ENSP00000324443:T94M;ENSP00000377884:T85M	.	T	+	2	0	MITF	70011199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.865000	0.98341	0.655000	0.94253	ACG		0.527	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		25	59	0	0	0	1	0	25	59				
DPAGT1	1798	broad.mit.edu	37	11	118981555	118981555	+	5'Flank	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:118981555A>T	ENST00000409993.2	-	0	0				C2CD2L_ENST00000336702.3_Splice_Site|C2CD2L_ENST00000528586.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TCCTGTCTGTAGTTGGAAGTC	0.527																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.e4-1		C2CD2-like							138.0	140.0	139.0					11																	118981555		2200	4295	6495	SO:0001631	upstream_gene_variant	9854					integral to membrane		g.chr11:118981555A>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981555A>T	Exception_encountered							NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			4	929	+								O15216|Q86WV9|Q9BWE6	Splice_Site	SNP	ENST00000409993.2	37		CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	9.174	1.021897	0.19433	.	.	ENSG00000172375	ENST00000336702	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8872	0.52608	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C2CD2L	118486765	1.000000	0.71417	0.855000	0.33649	0.173000	0.22820	7.146000	0.77373	2.026000	0.59711	0.533000	0.62120	.		0.527	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		11	589	0	0	0	1	0	11	589				
MAGEB6	158809	broad.mit.edu	37	X	26212326	26212326	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:26212326C>G	ENST00000379034.1	+	2	512	c.363C>G	c.(361-363)ggC>ggG	p.G121G		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	121	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTGTTTCAGGCTCAAAATATG	0.542																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(361-363)ggC>ggG		melanoma antigen family B, 6							83.0	76.0	79.0					X																	26212326		2189	4254	6443	SO:0001819	synonymous_variant	158809							g.chrX:26212326C>G	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.363C>G	X.37:g.26212326C>G							p.G121G	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	512	+			121			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.363C>G	CCDS14217.1																																																																																				0.542	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		66	111	0	0	0	1	0	66	111				
HYDIN	54768	broad.mit.edu	37	16	70905956	70905956	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:70905956A>G	ENST00000393567.2	-	65	11225	c.11075T>C	c.(11074-11076)aTt>aCt	p.I3692T	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3692					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGAAAGCAATTGTAGCTGA	0.458																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(11074-11076)aTt>aCt		HYDIN, axonemal central pair apparatus protein							67.0	66.0	66.0					16																	70905956		1837	4076	5913	SO:0001583	missense	54768							g.chr16:70905956A>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11075T>C	16.37:g.70905956A>G	ENSP00000377197:p.Ile3692Thr						p.I3692T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			65	11225	-		Ovarian(137;0.0654)	3692					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11075T>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	6.831	0.522523	0.13066	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01025	5.43	4.76	4.76	0.60689	.	2.057610	0.03847	U	0.271693	T	0.01730	0.0055	L	0.38175	1.15	0.80722	D	1	B	0.19200	0.034	B	0.23574	0.047	T	0.53121	-0.8483	10	0.62326	D	0.03	.	12.5305	0.56111	1.0:0.0:0.0:0.0	.	3691	F8WD23	.	T	3692;3691	ENSP00000377197:I3692T	ENSP00000313052:I3691T	I	-	2	0	HYDIN	69463457	0.649000	0.27322	0.005000	0.12908	0.028000	0.11728	6.589000	0.74080	1.769000	0.52152	0.414000	0.27820	ATT		0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	257	0	0	0	1	0	5	257				
SPANXN2	494119	broad.mit.edu	37	X	142795162	142795162	+	Silent	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:142795162T>A	ENST00000370498.1	-	2	1269	c.516A>T	c.(514-516)ggA>ggT	p.G172G		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	172										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTGAAGATCCTTCAGATG	0.468																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(514-516)ggA>ggT		SPANX family, member N2							257.0	229.0	239.0					X																	142795162		2203	4300	6503	SO:0001819	synonymous_variant	494119							g.chrX:142795162T>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.516A>T	X.37:g.142795162T>A							p.G172G	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	1269	-	Acute lymphoblastic leukemia(192;6.56e-05)		172					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.516A>T	CCDS35419.1																																																																																				0.468	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		11	2001	0	0	0	1	0	11	2001				
CDON	50937	broad.mit.edu	37	11	125873838	125873838	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:125873838C>A	ENST00000392693.3	-	10	2112	c.1985G>T	c.(1984-1986)gGt>gTt	p.G662V	CDON_ENST00000263577.7_Missense_Mutation_p.G662V|CDON_ENST00000531738.1_Missense_Mutation_p.G39V	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	662	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTGGCCTTCACCTGCTGCGCT	0.502																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1984-1986)gGt>gTt		cell adhesion associated, oncogene regulated							92.0	78.0	83.0					11																	125873838		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125873838C>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1985G>T	11.37:g.125873838C>A	ENSP00000376458:p.Gly662Val					CDON_ENST00000531738.1_Missense_Mutation_p.G39V|CDON_ENST00000263577.7_Missense_Mutation_p.G662V	p.G662V	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	10	2112	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	662			Fibronectin type-III 1.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.1985G>T	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.557093|3.557093	0.65425|0.65425	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577|ENST00000534661	T;T;T|.	0.74947|.	-0.89;3.25;-0.89|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Fibronectin, type III (4);|.	0.000000|.	0.51477|.	D|.	0.000089|.	D|D	0.83087|0.83087	0.5178|0.5178	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.83058|0.83058	-0.0149|-0.0149	10|5	0.87932|.	D|.	0|.	-25.8961|-25.8961	20.3409|20.3409	0.98764|0.98764	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	662;662;39|.	Q4KMG0;Q4KMG0-2;E9PN78|.	CDON_HUMAN;.;.|.	V|S	662;39;662|637	ENSP00000376458:G662V;ENSP00000432901:G39V;ENSP00000263577:G662V|.	ENSP00000263577:G662V|.	G|R	-|-	2|3	0|2	CDON|CDON	125379048|125379048	1.000000|1.000000	0.71417|0.71417	0.188000|0.188000	0.23233|0.23233	0.216000|0.216000	0.24613|0.24613	7.440000|7.440000	0.80464|0.80464	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.502	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		7	124	1	0	0.000442599	1	0.000456725	7	124				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A						BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site				Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	4	61	0	0	0	1	0	4	61				
HIST2H2AB	317772	broad.mit.edu	37	1	149859428	149859428	+	Silent	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:149859428A>G	ENST00000331128.3	-	1	38	c.39T>C	c.(37-39)gcT>gcC	p.A13A	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	13						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A13A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACTTGGCCTTAGCGCGGGCCT	0.587																																						ENST00000331128.3																			1	Substitution - coding silent(1)	p.A13A(1)	kidney(1)	breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(37-39)gcT>gcC		histone cluster 2, H2ab							56.0	63.0	61.0					1																	149859428		2202	4290	6492	SO:0001819	synonymous_variant	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859428A>G	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.39T>C	1.37:g.149859428A>G							p.A13A	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	38	-	Breast(34;0.0124)|all_hematologic(923;0.127)		13						Silent	SNP	ENST00000331128.3	37	c.39T>C	CCDS938.1																																																																																				0.587	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		5	352	0	0	0	1	0	5	352				
ENO2	2026	broad.mit.edu	37	12	7031929	7031929	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:7031929C>T	ENST00000535366.1	+	11	1897	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	ENO2_ENST00000545045.2_Missense_Mutation_p.A305V|ENO2_ENST00000229277.1_Missense_Mutation_p.A424V|ENO2_ENST00000541477.1_Missense_Mutation_p.A424V|ENO2_ENST00000538763.1_Missense_Mutation_p.A381V|ATN1_ENST00000356654.4_5'Flank|ENO2_ENST00000544774.1_Missense_Mutation_p.A381V|ENO2_ENST00000534977.1_3'UTR			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	424					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTCGCTTTGCCGGACATAAC	0.527																																						ENST00000535366.1																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1270-1272)gCc>gTc		enolase 2 (gamma, neuronal)							246.0	186.0	206.0					12																	7031929		2203	4300	6503	SO:0001583	missense	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7031929C>T	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.1271C>T	12.37:g.7031929C>T	ENSP00000437402:p.Ala424Val					ENO2_ENST00000545045.2_Missense_Mutation_p.A305V|ENO2_ENST00000544774.1_Missense_Mutation_p.A381V|ENO2_ENST00000541477.1_Missense_Mutation_p.A424V|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000538763.1_Missense_Mutation_p.A381V|ENO2_ENST00000229277.1_Missense_Mutation_p.A424V	p.A424V			P09104	ENOG_HUMAN			11	1897	+			424					B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	37	c.1271C>T	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323174	0.81580	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366;ENST00000545045	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	3.74	3.74	0.42951	Enolase, C-terminal (1);	0.186768	0.45606	D	0.000360	T	0.70587	0.3241	M	0.89785	3.06	0.80722	D	1	P;D	0.56968	0.698;0.978	P;P	0.52481	0.654;0.7	T	0.80605	-0.1308	10	0.72032	D	0.01	-12.3691	16.8504	0.85992	0.0:1.0:0.0:0.0	.	381;424	B7Z2X9;P09104	.;ENOG_HUMAN	V	424;424;381;381;424;305	ENSP00000438873:A424V;ENSP00000229277:A424V;ENSP00000441490:A381V;ENSP00000446195:A381V;ENSP00000437402:A424V;ENSP00000438062:A305V	ENSP00000229277:A424V	A	+	2	0	ENO2	6902190	1.000000	0.71417	0.909000	0.35828	0.401000	0.30781	7.416000	0.80143	2.391000	0.81399	0.462000	0.41574	GCC		0.527	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			5	518	0	0	0	1	0	5	518				
SERPING1	710	broad.mit.edu	37	11	57373959	57373959	+	Missense_Mutation	SNP	C	C	G	rs61761890	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:57373959C>G	ENST00000278407.4	+	6	1195	c.968C>G	c.(967-969)cCc>cGc	p.P323R	SERPING1_ENST00000340687.6_Missense_Mutation_p.P323R|SERPING1_ENST00000378324.2_Missense_Mutation_p.P271R|SERPING1_ENST00000378323.4_Missense_Mutation_p.P328R|SERPING1_ENST00000403558.1_Missense_Mutation_p.P366R	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	323					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ATAAAAGTGCCCATGATGAAT	0.428																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(1096-1098)cCc>cGc		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							159.0	153.0	155.0					11																	57373959		2201	4296	6497	SO:0001583	missense	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57373959C>G	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.968C>G	11.37:g.57373959C>G	ENSP00000278407:p.Pro323Arg					SERPING1_ENST00000340687.6_Missense_Mutation_p.P323R|SERPING1_ENST00000378323.4_Missense_Mutation_p.P328R|SERPING1_ENST00000278407.4_Missense_Mutation_p.P323R|SERPING1_ENST00000378324.2_Missense_Mutation_p.P271R	p.P366R	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			5	1463	+			323					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.1097C>G	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158135	0.57368	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.49	0.471	0.16752	Serpin domain (3);	0.848145	0.10481	N	0.669631	D	0.92202	0.7527	M	0.69358	2.11	0.29260	N	0.871368	P;D;P;P	0.56968	0.869;0.978;0.869;0.869	P;P;P;P	0.58013	0.557;0.831;0.557;0.557	D	0.84894	0.0838	10	0.51188	T	0.08	.	8.6538	0.34051	0.0:0.6126:0.0:0.3874	.	328;366;323;323	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	R	323;323;328;271;366	ENSP00000278407:P323R;ENSP00000341861:P323R;ENSP00000367574:P328R;ENSP00000367575:P271R;ENSP00000384420:P366R	ENSP00000278407:P323R	P	+	2	0	SERPING1	57130535	0.029000	0.19370	0.964000	0.40570	0.885000	0.51271	-0.493000	0.06459	0.045000	0.15804	-0.137000	0.14449	CCC		0.428	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		87	264	0	0	0	1	0	87	264				
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(1456-1458)tAc>tTc		polycystic kidney disease 2 (autosomal dominant)							209.0	193.0	198.0					4																	88967931		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88967931A>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1457A>T	4.37:g.88967931A>T	ENSP00000237596:p.Tyr486Phe					PKD2_ENST00000508588.1_Intron	p.Y486F	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	6	1523	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	486					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1457A>T	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486666	0.84854	.	.	ENSG00000118762	ENST00000237596	D	0.96992	-4.2	5.62	5.62	0.85841	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	L	0.59967	1.855	0.80722	D	1	B	0.25486	0.127	B	0.40134	0.32	D	0.95130	0.8254	10	0.62326	D	0.03	-20.057	15.8159	0.78599	1.0:0.0:0.0:0.0	.	486	Q13563	PKD2_HUMAN	F	486	ENSP00000237596:Y486F	ENSP00000237596:Y486F	Y	+	2	0	PKD2	89186955	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.296000	0.96104	2.133000	0.65898	0.482000	0.46254	TAC		0.383	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		6	156	0	0	0	1	0	6	156				
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:51447559A>T	ENST00000262055.4	+	4	429		c.e4-1		LETMD1_ENST00000418425.2_Splice_Site|LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Intron	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.e4-1		LETM1 domain containing 1							288.0	248.0	262.0					12																	51447559		2203	4300	6503	SO:0001630	splice_region_variant	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51447559A>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.391-1A>T	12.37:g.51447559A>T						LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000550929.1_Splice_Site		NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			4	448	+								A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Splice_Site	SNP	ENST00000262055.4	37		CCDS8806.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207058	0.79127	.	.	ENSG00000050426	ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000548209;ENST00000550814;ENST00000418425	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5147	0.67811	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LETMD1	49733826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.747000	0.74872	2.330000	0.79161	0.528000	0.53228	.		0.403	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416	Intron	12	671	0	0	0	1	0	12	671				
KIF11	3832	broad.mit.edu	37	10	94369179	94369179	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:94369179T>A	ENST00000260731.3	+	6	701	c.611T>A	c.(610-612)gTa>gAa	p.V204E		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	204	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)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAATTACAGTACACAACAAG	0.373																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(610-612)gTa>gAa		kinesin family member 11							202.0	222.0	215.0					10																	94369179		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94369179T>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.611T>A	10.37:g.94369179T>A	ENSP00000260731:p.Val204Glu						p.V204E	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			6	701	+			204			Kinesin-motor.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.611T>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821186	0.90873	.	.	ENSG00000138160	ENST00000260731	D	0.89746	-2.56	5.54	5.54	0.83059	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	H	0.98178	4.165	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98231	1.0483	10	0.87932	D	0	.	15.8422	0.78857	0.0:0.0:0.0:1.0	.	204	P52732	KIF11_HUMAN	E	204	ENSP00000260731:V204E	ENSP00000260731:V204E	V	+	2	0	KIF11	94359159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.664000	0.83830	2.323000	0.78572	0.528000	0.53228	GTA		0.373	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		5	318	0	0	0	1	0	5	318				
GSK3B	2932	broad.mit.edu	37	3	119624701	119624701	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:119624701T>A	ENST00000264235.8	-	7	1698		c.e7-2		GSK3B_ENST00000316626.5_Splice_Site	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta						axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ACCATACATCTAAAGAGAAAA	0.373																																						ENST00000264235.8																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.e7-2		glycogen synthase kinase 3 beta	Lithium(DB01356)						160.0	167.0	165.0					3																	119624701		2203	4300	6503	SO:0001630	splice_region_variant	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119624701T>A	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.716-2A>T	3.37:g.119624701T>A						GSK3B_ENST00000316626.5_Splice_Site		NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	7	1698	-								D3DN89|Q9BWH3|Q9UL47	Splice_Site	SNP	ENST00000264235.8	37		CCDS54628.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246777	0.80024	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6655	0.68904	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSK3B	121107391	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	7.144000	0.77357	2.132000	0.65825	0.459000	0.35465	.		0.373	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2		Intron	5	246	0	0	0	1	0	5	246				
CCDC58	131076	broad.mit.edu	37	3	122087171	122087171	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:122087171T>A	ENST00000291458.5	-	3	184		c.e3-2		CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Splice_Site|CCDC58_ENST00000466854.1_5'Flank	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58							mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		TGCCATCAACTAAAAGAACAA	0.328																																						ENST00000291458.5																			0				large_intestine(1)|lung(1)	2						c.e3-2		coiled-coil domain containing 58							32.0	32.0	32.0					3																	122087171		2195	4294	6489	SO:0001630	splice_region_variant	131076							g.chr3:122087171T>A	AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.178-2A>T	3.37:g.122087171T>A						CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Splice_Site		NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	3	184	-								Q32LY6	Splice_Site	SNP	ENST00000291458.5	37		CCDS33838.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114675	0.37339	.	.	ENSG00000160124	ENST00000291458;ENST00000479899;ENST00000479414	.	.	.	5.32	2.96	0.34315	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7687	0.34719	0.0:0.1671:0.0:0.8329	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC58	123569861	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	7.068000	0.76748	0.135000	0.18707	-1.162000	0.01777	.		0.328	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355754.1	NM_001017928	Intron	4	12	0	0	0	1	0	4	12				
TAF4B	6875	broad.mit.edu	37	18	23937652	23937652	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr18:23937652A>T	ENST00000269142.5	+	14	3314		c.e14-1		TAF4B_ENST00000578121.1_Splice_Site	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa						gene expression (GO:0010467)|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)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCCGTCTTCTAGTTACAGCAA	0.383																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.e14-1		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							87.0	75.0	79.0					18																	23937652		1841	4088	5929	SO:0001630	splice_region_variant	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23937652A>T	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2317-1A>T	18.37:g.23937652A>T						TAF4B_ENST00000578121.1_Splice_Site		NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		14	3314	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)							Q29YA4|Q29YA5	Splice_Site	SNP	ENST00000269142.5	37		CCDS42421.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020462	0.54576	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4681	0.61268	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAF4B	22191650	1.000000	0.71417	0.999000	0.59377	0.677000	0.39632	4.889000	0.63171	1.905000	0.55150	0.523000	0.50628	.		0.383	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640	Intron	6	101	0	0	0	1	0	6	101				
HIST2H2BA	337875	broad.mit.edu	37	1	120906203	120906203	+	lincRNA	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:120906203G>A	ENST00000427872.1	-	0	0				RP11-439A17.10_ENST00000426275.1_RNA|HIST2H2BA_ENST00000430394.1_RNA																							CCCGACACCGGCATCTCGTCC	0.612																																						ENST00000430394.1																			0																																																			337875							g.chr1:120906203G>A																													1.37:g.120906203G>A								NR_027337.1						0	176	+									RNA	SNP	ENST00000427872.1	37																																																																																						0.612	RP11-439A17.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098238.1			5	904	0	0	0	1	0	5	904				
PDC	5132	broad.mit.edu	37	1	186415580	186415580	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:186415580G>A	ENST00000391997.2	-	3	278	c.191C>T	c.(190-192)tCa>tTa	p.S64L	PDC_ENST00000456239.2_Missense_Mutation_p.S12L|PDC_ENST00000497198.1_Missense_Mutation_p.S12L|PDC_ENST00000340129.5_Missense_Mutation_p.S64L	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	64					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCGTTCCTTTGAATCTTTGCC	0.338																																						ENST00000391997.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(190-192)tCa>tTa		phosducin							135.0	130.0	132.0					1																	186415580		2203	4300	6503	SO:0001583	missense	5132				G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	g.chr1:186415580G>A	AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.191C>T	1.37:g.186415580G>A	ENSP00000375855:p.Ser64Leu					PDC_ENST00000340129.5_Missense_Mutation_p.S64L|PDC_ENST00000497198.1_Missense_Mutation_p.S12L|PDC_ENST00000456239.2_Missense_Mutation_p.S12L	p.S64L	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)	3	278	-		Breast(1374;1.53e-05)	64					Q14816|Q9UP22|Q9UP23	Missense_Mutation	SNP	ENST00000391997.2	37	c.191C>T	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123089	0.37436	.	.	ENSG00000116703	ENST00000391997;ENST00000497198;ENST00000456239;ENST00000340129	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.36	5.36	0.76844	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	0.595385	0.17558	N	0.169934	T	0.11623	0.0283	N	0.10874	0.06	0.50313	D	0.999868	B	0.26775	0.159	B	0.24701	0.055	T	0.26326	-1.0106	10	0.21014	T	0.42	-39.6172	19.0908	0.93225	0.0:0.0:1.0:0.0	.	64	P20941	PHOS_HUMAN	L	64;12;12;64	ENSP00000375855:S64L;ENSP00000422775:S12L;ENSP00000411564:S12L;ENSP00000342033:S64L	ENSP00000342033:S64L	S	-	2	0	PDC	184682203	1.000000	0.71417	0.584000	0.28653	0.166000	0.22503	6.988000	0.76212	2.498000	0.84270	0.591000	0.81541	TCA		0.338	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577		14	96	0	0	0	1	0	14	96				
TTN	7273	broad.mit.edu	37	2	179434473	179434473	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:179434473A>T	ENST00000591111.1	-	276	71687	c.71463T>A	c.(71461-71463)aaT>aaA	p.N23821K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N16397K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N25462K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N16522K|TTN_ENST00000342992.6_Missense_Mutation_p.N22894K|TTN_ENST00000342175.6_Missense_Mutation_p.N16589K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23821	Fibronectin type-III 73. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TGTTTGTTTTATTAATTCCTG	0.383																																						ENST00000589042.1																			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.(76384-76386)aaT>aaA		titin							100.0	90.0	93.0					2																	179434473		1873	4112	5985	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434473A>T	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.71463T>A	2.37:g.179434473A>T	ENSP00000465570:p.Asn23821Lys					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N22894K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N23821K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N16397K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N16589K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N16522K	p.N25462K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	76610	-			23821			Fibronectin type-III 85.		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.76386T>A		.	.	.	.	.	.	.	.	.	.	A	14.56	2.573187	0.45902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.92	1.02	0.19986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22513	0.0543	N	0.02420	-0.555	0.26996	N	0.965015	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.17715	-1.0360	9	0.87932	D	0	.	1.7774	0.03025	0.4034:0.2327:0.2581:0.1058	.	16397;16522;16589;23821	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	22894;16397;16589;16522;16395	ENSP00000343764:N22894K;ENSP00000434586:N16397K;ENSP00000340554:N16589K;ENSP00000352154:N16522K	ENSP00000340554:N16589K	N	-	3	2	TTN	179142719	0.144000	0.22641	0.891000	0.34965	0.994000	0.84299	-0.260000	0.08708	0.156000	0.19299	0.533000	0.62120	AAT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	69	0	0	0	1	0	6	69				
TANGO6	79613	broad.mit.edu	37	16	68961469	68961469	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:68961469A>T	ENST00000261778.1	+	13	2139		c.e13-1		RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)							integral component of membrane (GO:0016021)											TTCATTTTGTAGTTGAAGTCA	0.393																																						ENST00000261778.1																			0											c.e13-1		transport and golgi organization 6 homolog (Drosophila)							144.0	138.0	140.0					16																	68961469		1933	4140	6073	SO:0001630	splice_region_variant	79613							g.chr16:68961469A>T		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2128-1A>T	16.37:g.68961469A>T						RP11-521L9.1_ENST00000562790.1_lincRNA		NM_024562.1	NP_078838.1					13	2139	+								Q569F9|Q9H9K1	Splice_Site	SNP	ENST00000261778.1	37		CCDS45516.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716247	0.68844	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7237	0.69326	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMCO7	67518970	1.000000	0.71417	0.973000	0.42090	0.833000	0.47200	7.400000	0.79949	1.966000	0.57179	0.533000	0.62120	.		0.393	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2	Intron	5	97	0	0	0	1	0	5	97				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000233190.6_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	59	0	0	0	1	0	4	59				
ABCC3	8714	broad.mit.edu	37	17	48755516	48755516	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:48755516C>T	ENST00000285238.8	+	25	3721	c.3641C>T	c.(3640-3642)gCc>gTc	p.A1214V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1214	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GCACTATTTGCCGTCATCGGG	0.622																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3640-3642)gCc>gTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						131.0	117.0	122.0					17																	48755516		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48755516C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3641C>T	17.37:g.48755516C>T	ENSP00000285238:p.Ala1214Val						p.A1214V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		25	3721	+			1214			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.3641C>T	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438006	0.83885	.	.	ENSG00000108846	ENST00000285238	D	0.89552	-2.53	5.44	5.44	0.79542	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.117723	0.56097	D	0.000024	D	0.94049	0.8093	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94280	0.7519	10	0.72032	D	0.01	-2.7373	19.2521	0.93929	0.0:1.0:0.0:0.0	.	1214	O15438	MRP3_HUMAN	V	1214	ENSP00000285238:A1214V	ENSP00000285238:A1214V	A	+	2	0	ABCC3	46110515	1.000000	0.71417	0.814000	0.32528	0.155000	0.21991	6.010000	0.70753	2.557000	0.86248	0.655000	0.94253	GCC		0.622	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		5	309	0	0	0	1	0	5	309				
C10orf35	219738	broad.mit.edu	37	10	71392632	71392632	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:71392632G>T	ENST00000373279.4	+	4	342	c.183G>T	c.(181-183)caG>caT	p.Q61H	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	61						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GTGCTGCTCAGTCCCCCTTCA	0.632																																						ENST00000373279.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(181-183)caG>caT		chromosome 10 open reading frame 35							71.0	58.0	63.0					10																	71392632		2203	4300	6503	SO:0001583	missense	219738					integral to membrane		g.chr10:71392632G>T	BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.183G>T	10.37:g.71392632G>T	ENSP00000362376:p.Gln61His					C10orf35_ENST00000491890.1_3'UTR	p.Q61H	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN			4	342	+			61						Missense_Mutation	SNP	ENST00000373279.4	37	c.183G>T	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623288	0.46840	.	.	ENSG00000171224	ENST00000373279;ENST00000421716	.	.	.	4.81	2.83	0.33086	.	0.348665	0.23748	N	0.044948	T	0.18676	0.0448	N	0.14661	0.345	0.29536	N	0.852469	B	0.31351	0.32	B	0.31101	0.124	T	0.08743	-1.0707	9	0.41790	T	0.15	-10.4196	5.9677	0.19334	0.1135:0.3121:0.5743:0.0	.	61	Q96D05	CJ035_HUMAN	H	61;103	.	ENSP00000362376:Q61H	Q	+	3	2	C10orf35	71062638	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.180000	0.32005	1.226000	0.43582	0.561000	0.74099	CAG		0.632	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	NM_145306		8	44	1	0	3.86212e-05	1	4.02823e-05	8	44				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000367537.3_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495729A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.313-1A>T	1.37:g.183495729A>T						SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site				Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	10	82	0	0	0	1	0	10	82				
USP32	84669	broad.mit.edu	37	17	58282987	58282987	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:58282987A>C	ENST00000300896.4	-	26	3264	c.3070T>G	c.(3070-3072)Ttc>Gtc	p.F1024V	USP32_ENST00000592339.1_Missense_Mutation_p.F694V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1024	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTTAGGGTGAACATTTCATTT	0.398																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(3070-3072)Ttc>Gtc		ubiquitin specific peptidase 32							173.0	155.0	161.0					17																	58282987		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58282987A>C	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3070T>G	17.37:g.58282987A>C	ENSP00000300896:p.Phe1024Val					USP32_ENST00000592339.1_Missense_Mutation_p.F694V	p.F1024V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		26	3264	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1024					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.3070T>G	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	8.675	0.903734	0.17760	.	.	ENSG00000170832	ENST00000300896	T	0.39997	1.05	4.72	3.41	0.39046	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.533271	0.20961	N	0.082567	T	0.20251	0.0487	N	0.16567	0.415	0.42614	D	0.993327	B	0.02656	0.0	B	0.06405	0.002	T	0.10428	-1.0630	10	0.15952	T	0.53	.	3.4752	0.07582	0.6587:0.0:0.3413:0.0	.	1024	Q8NFA0	UBP32_HUMAN	V	1024	ENSP00000300896:F1024V	ENSP00000300896:F1024V	F	-	1	0	USP32	55637769	1.000000	0.71417	0.983000	0.44433	0.781000	0.44180	4.910000	0.63321	1.881000	0.54492	0.533000	0.62120	TTC		0.398	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		48	176	0	0	0	1	0	48	176				
GPR125	166647	broad.mit.edu	37	4	22437012	22437012	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:22437012A>T	ENST00000334304.5	-	10	1634	c.1365T>A	c.(1363-1365)tcT>tcA	p.S455S	GPR125_ENST00000502482.1_Silent_p.S455S|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Silent_p.S229S	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	455					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCATTTTGTCAGAAAAGTTGG	0.378																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1363-1365)tcT>tcA		G protein-coupled receptor 125							79.0	76.0	77.0					4																	22437012		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22437012A>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1365T>A	4.37:g.22437012A>T						GPR125_ENST00000502482.1_Silent_p.S455S|GPR125_ENST00000508133.1_Silent_p.S229S|GPR125_ENST00000282943.5_5'UTR	p.S455S	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			10	1634	-		Breast(46;0.198)	455					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.1365T>A	CCDS33964.1																																																																																				0.378	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			26	67	0	0	0	1	0	26	67				
HNRNPM	4670	broad.mit.edu	37	19	8550589	8550589	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:8550589G>A	ENST00000325495.4	+	14	1318	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	HNRNPM_ENST00000348943.3_Missense_Mutation_p.G387D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	426	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CTGGGCCACGGCATGGATCGC	0.706																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1159-1161)gGc>gAc		heterogeneous nuclear ribonucleoprotein M							78.0	84.0	82.0					19																	8550589		2202	4298	6500	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550589G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1277G>A	19.37:g.8550589G>A	ENSP00000325376:p.Gly426Asp					HNRNPM_ENST00000325495.4_Missense_Mutation_p.G426D	p.G387D	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1392	+			426					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1160G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354848	0.61293	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.22539	1.95;2.26	5.54	5.54	0.83059	.	0.526441	0.21865	N	0.067965	T	0.42494	0.1205	M	0.69823	2.125	0.58432	D	0.999998	P;P;D;P	0.58620	0.954;0.91;0.983;0.905	P;B;P;B	0.56088	0.66;0.348;0.791;0.403	T	0.32587	-0.9901	10	0.87932	D	0	.	18.0477	0.89337	0.0:0.0:1.0:0.0	.	266;426;387;311	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	D	426;387;311	ENSP00000325376:G426D;ENSP00000325732:G387D	ENSP00000325376:G426D	G	+	2	0	HNRNPM	8456589	1.000000	0.71417	0.997000	0.53966	0.716000	0.41182	6.642000	0.74329	2.606000	0.88127	0.491000	0.48974	GGC		0.706	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			5	556	0	0	0	1	0	5	556				
MYH15	22989	broad.mit.edu	37	3	108147573	108147573	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:108147573A>T	ENST00000273353.3	-	28	3584	c.3528T>A	c.(3526-3528)acT>acA	p.T1176T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1176						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGTTTCTTAGTTATTTCCA	0.493																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(3526-3528)acT>acA		myosin, heavy chain 15							156.0	150.0	152.0					3																	108147573		1946	4152	6098	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147573A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3528T>A	3.37:g.108147573A>T							p.T1176T	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			28	3584	-			1176						Silent	SNP	ENST00000273353.3	37	c.3528T>A	CCDS43127.1																																																																																				0.493	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		6	281	0	0	0	1	0	6	281				
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2644-2646)caT>caA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							151.0	157.0	155.0					9																	32541877		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541877A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2646T>A	9.37:g.32541877A>T	ENSP00000353735:p.His882Gln					TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	p.H882Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2762	-			882			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2646T>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244297	0.39697	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15017	2.46;2.47	5.91	4.76	0.60689	.	0.000000	0.49305	D	0.000157	T	0.09555	0.0235	L	0.29908	0.895	0.32113	N	0.589054	P	0.35272	0.493	B	0.28991	0.097	T	0.17561	-1.0365	10	0.24483	T	0.36	-15.314	5.0089	0.14302	0.6863:0.1565:0.1572:0.0	.	882	Q9NS56	TOPRS_HUMAN	Q	882;817	ENSP00000353735:H882Q;ENSP00000369187:H817Q	ENSP00000353735:H882Q	H	-	3	2	TOPORS	32531877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.101000	0.31037	1.058000	0.40530	0.528000	0.53228	CAT		0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		4	151	0	0	0	1	0	4	151				
MUC16	94025	broad.mit.edu	37	19	8997497	8997497	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:8997497G>C	ENST00000397910.4	-	59	41128	c.40925C>G	c.(40924-40926)aCc>aGc	p.T13642S	MUC16_ENST00000380951.5_Missense_Mutation_p.T283S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13644	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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						GTTGGTGATGGTGAAGTTGAG	0.527																																						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.(40924-40926)aCc>aGc		mucin 16, cell surface associated							165.0	133.0	143.0					19																	8997497		1972	4174	6146	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997497G>C	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.40925C>G	19.37:g.8997497G>C	ENSP00000381008:p.Thr13642Ser					MUC16_ENST00000380951.5_Missense_Mutation_p.T283S	p.T13642S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			59	41128	-			13644	Missing (in Ref. 3; AAK74120).		SEA 11.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40925C>G	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.66|11.66	1.703653|1.703653	0.30232|0.30232	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.50001	.|0.76;0.76	2.86|2.86	2.86|2.86	0.33363|0.33363	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.70046|0.70046	0.3179|0.3179	M|M	0.90483|0.90483	3.12|3.12	.|.	.|.	.|.	.|D;P	.|0.76494	.|0.999;0.917	.|D;D	.|0.81914	.|0.995;0.915	T|T	0.79045|0.79045	-0.1964|-0.1964	4|8	.|0.56958	.|D	.|0.05	-17.7139|-17.7139	9.4213|9.4213	0.38553|0.38553	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|21287;13642	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	A|S	482|13642;283	.|ENSP00000381008:T13642S;ENSP00000370338:T283S	.|ENSP00000370338:T283S	P|T	-|-	1|2	0|0	MUC16|MUC16	8858497|8858497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.159000|0.159000	0.22180|0.22180	3.244000|3.244000	0.51399|0.51399	1.909000|1.909000	0.55274|0.55274	0.555000|0.555000	0.69702|0.69702	CCA|ACC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		123	651	0	0	0	1	0	123	651				
PTPRA	5786	broad.mit.edu	37	20	2945505	2945505	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:2945505A>T	ENST00000216877.6	+	5	473		c.e5-1		PTPRA_ENST00000318266.5_Splice_Site|PTPRA_ENST00000380393.3_Splice_Site|PTPRA_ENST00000425918.2_Splice_Site|PTPRA_ENST00000358719.4_Splice_Site|PTPRA_ENST00000356147.3_Splice_Site|PTPRA_ENST00000399903.2_Splice_Site	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A						axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGTGTTTGTAGTTGCACCTT	0.368																																						ENST00000216877.6																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.e5-1		protein tyrosine phosphatase, receptor type, A							77.0	71.0	73.0					20																	2945505		2203	4300	6503	SO:0001630	splice_region_variant	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2945505A>T		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.74-1A>T	20.37:g.2945505A>T						PTPRA_ENST00000399903.2_Splice_Site|PTPRA_ENST00000358719.4_Splice_Site|PTPRA_ENST00000356147.3_Splice_Site|PTPRA_ENST00000380393.3_Splice_Site|PTPRA_ENST00000318266.5_Splice_Site|PTPRA_ENST00000425918.2_Splice_Site		NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN			5	473	+								A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Splice_Site	SNP	ENST00000216877.6	37		CCDS13039.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954094	0.73902	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000431048;ENST00000418580;ENST00000425918;ENST00000318266;ENST00000430705;ENST00000356147	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3192	0.54975	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRA	2893505	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	4.416000	0.59815	2.222000	0.72286	0.533000	0.62120	.		0.368	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3		Intron	5	79	0	0	0	1	0	5	79				
OR4K5	79317	broad.mit.edu	37	14	20388869	20388869	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr14:20388869A>T	ENST00000315915.4	+	1	129	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	35						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(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGTGTTGTATACAGTCATT	0.403																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(103-105)tAt>tTt		olfactory receptor, family 4, subfamily K, member 5							193.0	201.0	198.0					14																	20388869		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388869A>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.104A>T	14.37:g.20388869A>T	ENSP00000319511:p.Tyr35Phe						p.Y35F	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	129	+	all_cancers(95;0.00108)		35					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.104A>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	10.48	1.361696	0.24684	.	.	ENSG00000176281	ENST00000315915	T	0.04406	3.63	4.41	4.41	0.53225	.	0.000000	0.45867	D	0.000337	T	0.10423	0.0255	M	0.77103	2.36	0.31688	N	0.642233	P	0.37423	0.594	B	0.40285	0.325	T	0.02059	-1.1221	10	0.66056	D	0.02	.	11.614	0.51078	1.0:0.0:0.0:0.0	.	35	Q8NGD3	OR4K5_HUMAN	F	35	ENSP00000319511:Y35F	ENSP00000319511:Y35F	Y	+	2	0	OR4K5	19458709	0.996000	0.38824	0.119000	0.21687	0.287000	0.27160	3.354000	0.52254	1.838000	0.53458	0.533000	0.62120	TAT		0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		5	363	0	0	0	1	0	5	363				
ESYT1	23344	broad.mit.edu	37	12	56525276	56525276	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:56525276C>T	ENST00000394048.5	+	6	994	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	244	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTTTTGCGGGTGATACT	0.517																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(730-732)Cgg>Tgg		extended synaptotagmin-like protein 1							192.0	199.0	197.0					12																	56525276		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56525276C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.730C>T	12.37:g.56525276C>T	ENSP00000377612:p.Arg244Trp					ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W	p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			6	994	+			244					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.730C>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426900	0.62733	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	D;D;D	0.82619	-1.63;-1.63;-1.63	5.78	4.85	0.62838	.	0.113750	0.64402	D	0.000016	D	0.91630	0.7355	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.92360	0.5896	10	0.87932	D	0	-26.1118	15.8705	0.79117	0.1355:0.8644:0.0:0.0	.	244;244	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	W	244;198;244;244	ENSP00000377612:R244W;ENSP00000267113:R244W;ENSP00000445952:R244W	ENSP00000267113:R244W	R	+	1	2	ESYT1	54811543	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	2.663000	0.46774	2.906000	0.99361	0.655000	0.94253	CGG		0.517	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		4	326	0	0	0	1	0	4	326				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	9	0	0	0	1	0	3	9				
RHCG	51458	broad.mit.edu	37	15	90039695	90039695	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:90039695C>T	ENST00000268122.4	-	1	149	c.81G>A	c.(79-81)ggG>ggA	p.G27G	RHCG_ENST00000544600.1_Silent_p.G27G	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	27					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GCACGAACACCCCGAAGAGAA	0.607																																						ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(79-81)ggG>ggA		Rh family, C glycoprotein							122.0	111.0	115.0					15																	90039695		2200	4299	6499	SO:0001819	synonymous_variant	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90039695C>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.81G>A	15.37:g.90039695C>T						RHCG_ENST00000544600.1_Silent_p.G27G	p.G27G	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			1	149	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		27					A8K4D4|Q6X3Y4	Silent	SNP	ENST00000268122.4	37	c.81G>A	CCDS10351.1																																																																																				0.607	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		47	254	0	0	0	1	0	47	254				
CCT8	10694	broad.mit.edu	37	21	30442608	30442608	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr21:30442608C>T	ENST00000286788.4	-	2	317	c.111G>A	c.(109-111)aaG>aaA	p.K37K	CCT8_ENST00000540844.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.K18K|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	37					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GGGCAAGCTCCTTGCAAGCTT	0.358																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(109-111)aaG>aaA		chaperonin containing TCP1, subunit 8 (theta)							82.0	78.0	79.0					21																	30442608		2203	4300	6503	SO:0001819	synonymous_variant	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30442608C>T	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.111G>A	21.37:g.30442608C>T						CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.K18K|CCT8_ENST00000540844.1_5'UTR	p.K37K	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			2	317	-			37					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	ENST00000286788.4	37	c.111G>A	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	C	9.371	1.070493	0.20147	.	.	ENSG00000156261	ENST00000431234	.	.	.	4.74	1.94	0.25998	.	.	.	.	.	T	0.52273	0.1724	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43048	-0.9415	4	.	.	.	-17.9556	5.3509	0.16036	0.0:0.4715:0.0:0.5285	.	.	.	.	K	29	.	.	R	-	2	0	CCT8	29364479	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.350000	0.20079	0.724000	0.32296	0.561000	0.74099	AGG		0.358	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			7	34	0	0	0	1	0	7	34				
CYB561A3	220002	broad.mit.edu	37	11	61121350	61121350	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:61121350G>A	ENST00000294072.4	-	4	976	c.299C>T	c.(298-300)gCt>gTt	p.A100V	CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000426130.2_Missense_Mutation_p.A117V|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A100V|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A100V	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	100	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										CGTAAAGACAGCAACCAGCCC	0.602																																						ENST00000426130.2																			0											c.(349-351)gCt>gTt		cytochrome b561 family, member A3							196.0	177.0	183.0					11																	61121350		2203	4299	6502	SO:0001583	missense	220002							g.chr11:61121350G>A	AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.299C>T	11.37:g.61121350G>A	ENSP00000294072:p.Ala100Val					CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000294072.4_Missense_Mutation_p.A100V|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A100V|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A100V|CYB561A3_ENST00000544118.1_Intron	p.A117V	NM_001161454.1	NP_001154926.1					5	1129	-								B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	c.350C>T	CCDS8004.1	.	.	.	.	.	.	.	.	.	.	G	36	5.920141	0.97105	.	.	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000536915;ENST00000540139;ENST00000542361;ENST00000537364;ENST00000539128	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.92	5.01	0.66863	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.053659	0.85682	D	0.000000	T	0.60457	0.2270	M	0.72894	2.215	0.58432	D	0.999998	D;P;D;P	0.58268	0.982;0.938;0.978;0.95	P;P;P;P	0.54460	0.753;0.478;0.638;0.634	T	0.63937	-0.6524	10	0.66056	D	0.02	-22.8953	14.5236	0.67870	0.0697:0.0:0.9302:0.0	.	117;100;100;100	B4DLN9;F5H0P5;F5H1Q2;Q8NBI2	.;.;.;CYAC3_HUMAN	V	117;100;100;100;12;100;100;100	ENSP00000398979:A117V;ENSP00000294072:A100V;ENSP00000389745:A100V;ENSP00000437390:A100V;ENSP00000441085:A12V;ENSP00000443321:A100V;ENSP00000438725:A100V;ENSP00000443005:A100V	ENSP00000294072:A100V	A	-	2	0	CYBASC3	60877926	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	7.484000	0.81180	2.809000	0.96659	0.655000	0.94253	GCT		0.602	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611		3	132	0	0	0	1	0	3	132				
PCDHA4	56144	broad.mit.edu	37	5	140188113	140188113	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:140188113T>C	ENST00000530339.1	+	1	1341	c.1341T>C	c.(1339-1341)gaT>gaC	p.D447D	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D447D|PCDHA4_ENST00000356878.4_Silent_p.D447D|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGCTGATGTGAACGACA	0.642																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1339-1341)gaT>gaC									86.0	87.0	86.0					5																	140188113		2203	4300	6503	SO:0001819	synonymous_variant	56144							g.chr5:140188113T>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1341T>C	5.37:g.140188113T>C						PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D447D|PCDHA4_ENST00000356878.4_Silent_p.D447D	p.D447D	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1341	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1341T>C	CCDS54916.1																																																																																				0.642	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		13	194	0	0	0	1	0	13	194				
NOX4	50507	broad.mit.edu	37	11	89133249	89133249	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:89133249T>A	ENST00000263317.4	-	11	1250		c.e11-2		NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000525196.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAATATACTAAAAAGCAAC	0.289																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e11-2		NADPH oxidase 4							77.0	79.0	79.0					11																	89133249		2201	4296	6497	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89133249T>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1012-2A>T	11.37:g.89133249T>A						NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			11	1250	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	SNP	ENST00000263317.4	37		CCDS8285.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949672	0.73787	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5774	0.68258	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOX4	88772897	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.989000	0.76219	1.914000	0.55421	0.459000	0.35465	.		0.289	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	4	46	0	0	0	1	0	4	46				
HIPK2	28996	broad.mit.edu	37	7	139281488	139281488	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:139281488C>T	ENST00000406875.3	-	12	2786	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Missense_Mutation_p.E871K	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	898	Interaction with TP53 and TP73.|Interaction with UBE2I. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TTCTGTTCCTCCTCCTCGTCC	0.607																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2692-2694)Gag>Aag		homeodomain interacting protein kinase 2							126.0	138.0	134.0					7																	139281488		2201	4291	6492	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139281488C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2692G>A	7.37:g.139281488C>T	ENSP00000385571:p.Glu898Lys					HIPK2_ENST00000428878.2_Missense_Mutation_p.E871K|HIPK2_ENST00000342645.6_Intron	p.E898K	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			12	2786	-	Melanoma(164;0.205)		898			Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.2692G>A		.	.	.	.	.	.	.	.	.	.	C	25.4	4.634415	0.87660	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.25749	1.78;1.78	5.41	5.41	0.78517	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.58432	D	0.999999	P;P	0.39665	0.682;0.59	B;B	0.33121	0.108;0.158	T	0.03364	-1.1044	8	0.51188	T	0.08	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	898;871	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	K	898;871	ENSP00000385571:E898K;ENSP00000413724:E871K	ENSP00000385571:E898K	E	-	1	0	HIPK2	138932028	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.127000	0.77210	2.826000	0.97356	0.655000	0.94253	GAG		0.607	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		71	338	0	0	0	1	0	71	338				
GPR111	222611	broad.mit.edu	37	6	47649012	47649012	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:47649012C>T	ENST00000296862.1	+	6	717	c.717C>T	c.(715-717)acC>acT	p.T239T	GPR111_ENST00000398742.2_Silent_p.T171T|GPR111_ENST00000507065.1_Silent_p.T171T			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	239					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTTACAGCACCATAGCCAACC	0.443																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(511-513)acC>acT		G protein-coupled receptor 111							68.0	66.0	66.0					6																	47649012		2026	4187	6213	SO:0001819	synonymous_variant	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649012C>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.717C>T	6.37:g.47649012C>T						GPR111_ENST00000507065.1_Silent_p.T171T|GPR111_ENST00000296862.1_Silent_p.T239T	p.T171T			Q8IZF7	GP111_HUMAN			5	562	+			239					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	ENST00000296862.1	37	c.513C>T																																																																																					0.443	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		5	192	0	0	0	1	0	5	192				
SENP1	29843	broad.mit.edu	37	12	48442848	48442848	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:48442848G>A	ENST00000004980.5	-	14	1953	c.1475C>T	c.(1474-1476)gCa>gTa	p.A492V	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.A492V|SENP1_ENST00000549518.1_Missense_Mutation_p.A492V|SENP1_ENST00000551330.1_Missense_Mutation_p.A492V|SENP1_ENST00000549595.1_Missense_Mutation_p.A492V			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	492	Protease.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GGTATTAAATGCATGCACACT	0.363																																						ENST00000004980.5																			0				large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(1474-1476)gCa>gTa		SUMO1/sentrin specific peptidase 1							111.0	105.0	107.0					12																	48442848		1865	4114	5979	SO:0001583	missense	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48442848G>A	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1475C>T	12.37:g.48442848G>A	ENSP00000004980:p.Ala492Val					SENP1_ENST00000551330.1_Missense_Mutation_p.A492V|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.A492V|SENP1_ENST00000549595.1_Missense_Mutation_p.A492V|SENP1_ENST00000448372.1_Missense_Mutation_p.A492V	p.A492V			Q9P0U3	SENP1_HUMAN			14	1953	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	492			Protease.		A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	c.1475C>T	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764302	0.89932	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.62	5.62	0.85841	.	0.139486	0.52532	D	0.000072	T	0.29288	0.0729	L	0.37561	1.115	0.80722	D	1	D;P	0.53312	0.959;0.949	P;B	0.46339	0.513;0.379	T	0.00928	-1.1511	10	0.40728	T	0.16	-10.9154	19.2729	0.94018	0.0:0.0:1.0:0.0	.	492;492	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	V	492	ENSP00000004980:A492V;ENSP00000394791:A492V;ENSP00000446681:A492V;ENSP00000450076:A492V;ENSP00000447328:A492V	ENSP00000004980:A492V	A	-	2	0	SENP1	46729115	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.550000	0.73905	2.645000	0.89757	0.650000	0.86243	GCA		0.363	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		27	132	0	0	0	1	0	27	132				
TNKS1BP1	85456	broad.mit.edu	37	11	57076040	57076040	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:57076040C>T	ENST00000532437.1	-	5	4456	c.4145G>A	c.(4144-4146)gGc>gAc	p.G1382D	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1382D			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1382	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGACAAGCTGCCATTGTGCCT	0.652																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4144-4146)gGc>gAc		tankyrase 1 binding protein 1, 182kDa							65.0	78.0	74.0					11																	57076040		2201	4295	6496	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076040C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4145G>A	11.37:g.57076040C>T	ENSP00000437271:p.Gly1382Asp					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1382D	p.G1382D			Q9C0C2	TB182_HUMAN			5	4456	-		all_epithelial(135;0.21)	1382			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4145G>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898788	0.52227	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32272	1.46;1.46	5.08	-0.493	0.12038	.	1.314310	0.05246	N	0.513042	T	0.13628	0.0330	N	0.05534	-0.03	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.23226	-1.0194	10	0.26408	T	0.33	-4.5753	1.8212	0.03111	0.2672:0.43:0.1312:0.1716	.	1382	Q9C0C2	TB182_HUMAN	D	1382	ENSP00000350990:G1382D;ENSP00000437271:G1382D	ENSP00000350990:G1382D	G	-	2	0	TNKS1BP1	56832616	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	0.153000	0.16323	0.179000	0.19938	0.462000	0.41574	GGC		0.652	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		4	185	0	0	0	1	0	4	185				
PXDN	7837	broad.mit.edu	37	2	1677555	1677555	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:1677555C>T	ENST00000252804.4	-	9	928	c.878G>A	c.(877-879)cGc>cAc	p.R293H	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	293	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAAGTTTAGGCGGGAATCTGT	0.507																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(877-879)cGc>cAc		peroxidasin homolog (Drosophila)							124.0	126.0	125.0					2																	1677555		2055	4200	6255	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1677555C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.878G>A	2.37:g.1677555C>T	ENSP00000252804:p.Arg293His					PXDN_ENST00000483018.1_5'UTR	p.R293H	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	9	928	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	293			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.878G>A	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.356500|4.356500	0.82243|0.82243	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.51574	.|0.7	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.056903	.|0.64402	.|D	.|0.000001	T|T	0.65637|0.65637	0.2710|0.2710	L|L	0.57536|0.57536	1.79|1.79	0.58432|0.58432	D|D	0.999998|0.999998	.|D;P	.|0.76494	.|0.999;0.58	.|D;B	.|0.70016	.|0.967;0.187	T|T	0.68078|0.68078	-0.5504|-0.5504	5|10	.|0.87932	.|D	.|0	-30.6332|-30.6332	17.3575|17.3575	0.87341|0.87341	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|293;293	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	T|H	289|293	.|ENSP00000252804:R293H	.|ENSP00000252804:R293H	A|R	-|-	1|2	0|0	PXDN|PXDN	1656562|1656562	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.525000|0.525000	0.34531|0.34531	7.683000|7.683000	0.84093|0.84093	2.583000|2.583000	0.87209|0.87209	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.507	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		89	292	0	0	0	1	0	89	292				
BDH1	622	broad.mit.edu	37	3	197238941	197238941	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:197238941G>A	ENST00000392378.2	-	7	1167	c.857C>T	c.(856-858)aCc>aTc	p.T286I	BDH1_ENST00000392379.1_Missense_Mutation_p.T286I|BDH1_ENST00000358186.2_Missense_Mutation_p.T286I|BDH1_ENST00000441275.1_Missense_Mutation_p.T199I	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	286					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		GCTGCAGTAGGTCTCCATCTT	0.582																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(856-858)aCc>aTc		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						196.0	165.0	175.0					3																	197238941		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238941G>A	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.857C>T	3.37:g.197238941G>A	ENSP00000376183:p.Thr286Ile					BDH1_ENST00000358186.2_Missense_Mutation_p.T286I|BDH1_ENST00000441275.1_Missense_Mutation_p.T199I|BDH1_ENST00000392378.2_Missense_Mutation_p.T286I	p.T286I	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	8	1258	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	286					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.857C>T	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215545	0.39102	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.85	-1.21	0.09524	NAD(P)-binding domain (1);	0.551411	0.21865	N	0.067969	D	0.84933	0.5582	L	0.38175	1.15	0.37796	D	0.927537	B	0.12013	0.005	B	0.12156	0.007	T	0.71384	-0.4609	10	0.29301	T	0.29	.	10.2852	0.43562	0.0:0.284:0.3221:0.3939	.	286	Q02338	BDH_HUMAN	I	286;286;286;199	ENSP00000376183:T286I;ENSP00000350914:T286I;ENSP00000376184:T286I;ENSP00000411014:T199I	ENSP00000350914:T286I	T	-	2	0	BDH1	198723338	1.000000	0.71417	0.888000	0.34837	0.855000	0.48748	1.741000	0.38238	-0.360000	0.08138	-0.169000	0.13324	ACC		0.582	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		85	539	0	0	0	1	0	85	539				
ASH1L	55870	broad.mit.edu	37	1	155314033	155314033	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:155314033G>A	ENST00000368346.3	-	22	8576	c.7937C>T	c.(7936-7938)gCc>gTc	p.A2646V	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.A2641V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2646					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCCAGGTTGGGCATAGTGGGG	0.483																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(7936-7938)gCc>gTc		ash1 (absent, small, or homeotic)-like (Drosophila)							122.0	113.0	116.0					1																	155314033		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155314033G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7937C>T	1.37:g.155314033G>A	ENSP00000357330:p.Ala2646Val					ASH1L_ENST00000392403.3_Missense_Mutation_p.A2641V	p.A2646V			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		22	8576	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2646					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7937C>T		.	.	.	.	.	.	.	.	.	.	G	26.5	4.740374	0.89573	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89270	-2.49;-2.49	5.21	5.21	0.72293	Zinc finger, FYVE/PHD-type (1);	0.097222	0.64402	D	0.000001	D	0.86293	0.5898	L	0.59436	1.845	0.80722	D	1	P;P	0.42456	0.673;0.78	B;B	0.42214	0.211;0.38	D	0.88483	0.3070	10	0.72032	D	0.01	.	18.5454	0.91044	0.0:0.0:1.0:0.0	.	2646;2641	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	2646;2641	ENSP00000357330:A2646V;ENSP00000376204:A2641V	ENSP00000357330:A2646V	A	-	2	0	ASH1L	153580657	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.594000	0.98254	2.716000	0.92895	0.561000	0.74099	GCC		0.483	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		4	278	0	0	0	1	0	4	278				
CYP3A5	1577	broad.mit.edu	37	7	99277508	99277508	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:99277508G>A	ENST00000222982.4	-	1	111	c.12C>T	c.(10-12)atC>atT	p.I4I	CYP3A5_ENST00000339843.2_Silent_p.I4I|CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000343703.5_5'UTR|CYP3A5_ENST00000439761.1_Silent_p.I4I	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	4					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCAAATTTGGGATGAGGTCCA	0.512																																						ENST00000339843.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(10-12)atC>atT		cytochrome P450, family 3, subfamily A, polypeptide 5							145.0	131.0	136.0					7																	99277508		2203	4300	6503	SO:0001819	synonymous_variant	1577							g.chr7:99277508G>A	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.12C>T	7.37:g.99277508G>A						CYP3A5_ENST00000439761.1_Silent_p.I4I|CYP3A5_ENST00000222982.4_Silent_p.I4I|CYP3A5_ENST00000343703.5_5'UTR|CYP3A5_ENST00000480723.1_5'UTR	p.I4I							1	113	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)							A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	ENST00000222982.4	37	c.12C>T	CCDS5672.1																																																																																				0.512	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			5	130	0	0	0	1	0	5	130				
PCDHA4	56144	broad.mit.edu	37	5	140188110	140188110	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:140188110T>C	ENST00000530339.1	+	1	1338	c.1338T>C	c.(1336-1338)gcT>gcC	p.A446A	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.A446A|PCDHA4_ENST00000356878.4_Silent_p.A446A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	446	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGGCTGATGTGAACG	0.637																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1336-1338)gcT>gcC									86.0	87.0	87.0					5																	140188110		2203	4300	6503	SO:0001819	synonymous_variant	56144							g.chr5:140188110T>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1338T>C	5.37:g.140188110T>C						PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.A446A|PCDHA4_ENST00000356878.4_Silent_p.A446A	p.A446A	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1338	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1338T>C	CCDS54916.1																																																																																				0.637	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		17	193	0	0	0	1	0	17	193				
CYP1A1	1543	broad.mit.edu	37	15	75013623	75013623	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:75013623G>C	ENST00000379727.3	-	5	1281	c.1083C>G	c.(1081-1083)gaC>gaG	p.D361E	CYP1A1_ENST00000395049.4_Missense_Mutation_p.D361E|CYP1A1_ENST00000567032.1_Missense_Mutation_p.D361E|CYP1A1_ENST00000395048.2_Missense_Mutation_p.D361E|CYP1A1_ENST00000564596.1_Missense_Mutation_p.D100E			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	361					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GATGGGATCTGTCAGAGAGCC	0.612									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1081-1083)gaC>gaG		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						78.0	80.0	79.0					15																	75013623		2197	4296	6493	SO:0001583	missense	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013623G>C	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1083C>G	15.37:g.75013623G>C	ENSP00000369050:p.Asp361Glu					CYP1A1_ENST00000564596.1_Missense_Mutation_p.D100E|CYP1A1_ENST00000395048.2_Missense_Mutation_p.D361E|CYP1A1_ENST00000567032.1_Missense_Mutation_p.D361E|CYP1A1_ENST00000395049.4_Missense_Mutation_p.D361E	p.D361E			P04798	CP1A1_HUMAN			5	1281	-			361					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.1083C>G	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.095945	0.36952	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.72282	-0.64;-0.64;-0.64	5.17	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	H	0.94183	3.505	0.80722	D	1	D;B	0.61697	0.99;0.427	D;P	0.63957	0.92;0.491	D	0.88455	0.3051	10	0.87932	D	0	.	10.8429	0.46726	0.1514:0.0:0.8486:0.0	.	361;361	E7EMT5;P04798	.;CP1A1_HUMAN	E	361;361;361;333	ENSP00000369050:D361E;ENSP00000378488:D361E;ENSP00000378489:D361E	ENSP00000268062:D333E	D	-	3	2	CYP1A1	72800676	1.000000	0.71417	0.948000	0.38648	0.099000	0.18886	2.893000	0.48633	1.193000	0.43086	-0.136000	0.14681	GAC		0.612	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		29	105	0	0	0	1	0	29	105				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	26	0	0	0	1	0	3	26				
ZNF445	353274	broad.mit.edu	37	3	44488853	44488853	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:44488853G>A	ENST00000396077.2	-	8	2657	c.2310C>T	c.(2308-2310)gcC>gcT	p.A770A	ZNF445_ENST00000425708.2_Silent_p.A770A	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	770					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GATTGCGGAAGGCCTTGCCAC	0.527																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(2308-2310)gcC>gcT		zinc finger protein 445							67.0	66.0	67.0					3																	44488853		2203	4300	6503	SO:0001819	synonymous_variant	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488853G>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2310C>T	3.37:g.44488853G>A						ZNF445_ENST00000396077.2_Silent_p.A770A	p.A770A			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	2651	-			770					Q3MJD1	Silent	SNP	ENST00000396077.2	37	c.2310C>T	CCDS2713.1																																																																																				0.527	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		12	28	0	0	0	1	0	12	28				
LRRIQ1	84125	broad.mit.edu	37	12	85546098	85546098	+	Missense_Mutation	SNP	G	G	A	rs532186985	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:85546098G>A	ENST00000393217.2	+	20	4431	c.4370G>A	c.(4369-4371)cGc>cAc	p.R1457H		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1457										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATTCCACCCGCTTCCCTTCA	0.378													G|||	2	0.000399361	0.0	0.0	5008	,	,		15792	0.0		0.001	False		,,,				2504	0.001					ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4369-4371)cGc>cAc		leucine-rich repeats and IQ motif containing 1							141.0	134.0	136.0					12																	85546098		1890	4109	5999	SO:0001583	missense	84125							g.chr12:85546098G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4370G>A	12.37:g.85546098G>A	ENSP00000376910:p.Arg1457His						p.R1457H	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	20	4431	+			1457					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4370G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709676	0.48517	.	.	ENSG00000133640	ENST00000393217	T	0.51817	0.69	5.22	1.82	0.25136	.	.	.	.	.	T	0.25827	0.0629	N	0.14661	0.345	0.21355	N	0.999716	B	0.26547	0.152	B	0.14023	0.01	T	0.13335	-1.0513	9	0.35671	T	0.21	.	6.0222	0.19634	0.3169:0.1473:0.5358:0.0	.	1457	Q96JM4	LRIQ1_HUMAN	H	1457	ENSP00000376910:R1457H	ENSP00000376910:R1457H	R	+	2	0	LRRIQ1	84070229	0.842000	0.29525	0.991000	0.47740	0.960000	0.62799	1.063000	0.30567	0.583000	0.29574	0.586000	0.80456	CGC		0.378	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		24	102	0	0	0	1	0	24	102				
OR10H2	26538	broad.mit.edu	37	19	15839646	15839646	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:15839646G>T	ENST00000305899.3	+	1	813	c.793G>T	c.(793-795)Ggt>Tgt	p.G265C		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CAAGCCCAAAGGTCCCCACTC	0.552																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(793-795)Ggt>Tgt		olfactory receptor, family 10, subfamily H, member 2							163.0	129.0	141.0					19																	15839646		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839646G>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.793G>T	19.37:g.15839646G>T	ENSP00000306095:p.Gly265Cys						p.G265C	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	813	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		265					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.793G>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.723837	0.30593	.	.	ENSG00000171942	ENST00000305899	T	0.00099	8.73	3.39	0.956	0.19608	GPCR, rhodopsin-like superfamily (1);	0.467363	0.17861	N	0.159533	T	0.00271	0.0008	L	0.49778	1.585	0.09310	N	1	D	0.65815	0.995	D	0.67900	0.954	T	0.50659	-0.8802	10	0.87932	D	0	.	5.0401	0.14454	0.1234:0.0:0.6716:0.205	.	265	O60403	O10H2_HUMAN	C	265	ENSP00000306095:G265C	ENSP00000306095:G265C	G	+	1	0	OR10H2	15700646	0.000000	0.05858	0.176000	0.23000	0.568000	0.35870	-1.091000	0.03369	0.416000	0.25844	0.531000	0.56144	GGT		0.552	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			5	546	1	0	0.00116845	1	0.0012127	5	546				
PPWD1	23398	broad.mit.edu	37	5	64867889	64867889	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:64867889T>C	ENST00000261308.5	+	5	817	c.745T>C	c.(745-747)Tac>Cac	p.Y249H	PPWD1_ENST00000535264.1_Missense_Mutation_p.Y219H|PPWD1_ENST00000538977.1_Missense_Mutation_p.Y93H	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	249					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GATGATTGAATACTGGACTGG	0.373																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(745-747)Tac>Cac		peptidylprolyl isomerase domain and WD repeat containing 1							82.0	86.0	84.0					5																	64867889		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64867889T>C	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.745T>C	5.37:g.64867889T>C	ENSP00000261308:p.Tyr249His					PPWD1_ENST00000538977.1_Missense_Mutation_p.Y93H|PPWD1_ENST00000535264.1_Missense_Mutation_p.Y219H	p.Y249H	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	5	817	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	249					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.745T>C	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030171	0.75504	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.63096	-0.02;-0.02;5.02;-0.02	5.83	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.054065	0.85682	N	0.000000	T	0.81479	0.4831	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.84108	0.0399	10	0.87932	D	0	.	11.5754	0.50858	0.0:0.0694:0.0:0.9306	.	219;249	F5H7P7;Q96BP3	.;PPWD1_HUMAN	H	249;219;93;168	ENSP00000261308:Y249H;ENSP00000442371:Y219H;ENSP00000444496:Y93H;ENSP00000423234:Y168H	ENSP00000261308:Y249H	Y	+	1	0	PPWD1	64903645	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	7.979000	0.88103	1.043000	0.40175	0.402000	0.26972	TAC		0.373	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		24	95	0	0	0	1	0	24	95				
FMO1	2326	broad.mit.edu	37	1	171244561	171244561	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:171244561A>C	ENST00000354841.4	+	3	529	c.398A>C	c.(397-399)gAg>gCg	p.E133A	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.E133A|FMO1_ENST00000402921.2_Missense_Mutation_p.E70A	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	133					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)	ATGCATGAAGAGAAGCAAGAG	0.433																																						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.(397-399)gAg>gCg		flavin containing monooxygenase 1							171.0	157.0	162.0					1																	171244561		2203	4300	6503	SO:0001583	missense	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.chr1:171244561A>C	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.398A>C	1.37:g.171244561A>C	ENSP00000346901:p.Glu133Ala					FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.E133A|FMO1_ENST00000402921.2_Missense_Mutation_p.E70A	p.E133A			Q01740	FMO1_HUMAN			3	529	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		133					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.398A>C	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.191759	0.38707	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.36	4.44	0.53790	.	0.053294	0.85682	D	0.000000	T	0.19248	0.0462	N	0.05510	-0.035	0.38894	D	0.957173	B;B;B	0.19073	0.002;0.008;0.033	B;B;B	0.24155	0.001;0.051;0.033	T	0.10154	-1.0642	10	0.62326	D	0.03	-3.4659	12.5773	0.56371	0.0838:0.0:0.9162:0.0	.	70;133;133	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	A	133;133;70;133	ENSP00000356724:E133A;ENSP00000406982:E133A;ENSP00000385543:E70A;ENSP00000346901:E133A	ENSP00000346901:E133A	E	+	2	0	FMO1	169511185	1.000000	0.71417	0.999000	0.59377	0.253000	0.25986	3.127000	0.50484	1.352000	0.45808	-0.479000	0.04858	GAG		0.433	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		59	300	0	0	0	1	0	59	300				
TRIM29	23650	broad.mit.edu	37	11	119983152	119983152	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:119983152G>A	ENST00000341846.5	-	9	2158	c.1737C>T	c.(1735-1737)ggC>ggT	p.G579G	TRIM29_ENST00000541857.1_Silent_p.G312G|TRIM29_ENST00000528870.1_Silent_p.G112G|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000524816.3_Silent_p.G145G|TRIM29_ENST00000529044.1_Silent_p.G318G	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	579					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CAATCCCGTTGCCTTTGTTGA	0.587																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(1735-1737)ggC>ggT		tripartite motif containing 29							176.0	138.0	151.0					11																	119983152		2199	4295	6494	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119983152G>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1737C>T	11.37:g.119983152G>A						TRIM29_ENST00000529044.1_Silent_p.G318G|TRIM29_ENST00000528870.1_Silent_p.G112G|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000541857.1_Silent_p.G312G|TRIM29_ENST00000524816.3_Silent_p.G145G	p.G579G	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	9	2158	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	579					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.1737C>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408706	0.25378	.	.	ENSG00000137699	ENST00000525327	.	.	.	5.09	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2524	0.49034	0.0862:0.0:0.9138:0.0	.	.	.	.	X	172	.	.	Q	-	1	0	TRIM29	119488362	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	4.146000	0.58072	2.367000	0.80283	0.561000	0.74099	CAA		0.587	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		8	253	0	0	0	1	0	8	253				
MUC16	94025	broad.mit.edu	37	19	9071380	9071380	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:9071380G>C	ENST00000397910.4	-	3	16269	c.16066C>G	c.(16066-16068)Cag>Gag	p.Q5356E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5358	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						GGGATGCTCTGTGGTGATGTG	0.522																																						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.(16066-16068)Cag>Gag		mucin 16, cell surface associated							143.0	143.0	143.0					19																	9071380		2067	4210	6277	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071380G>C	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.16066C>G	19.37:g.9071380G>C	ENSP00000381008:p.Gln5356Glu						p.Q5356E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16269	-			5358			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16066C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.607	-0.291557	0.05568	.	.	ENSG00000181143	ENST00000397910	T	0.19250	2.16	2.12	-0.226	0.13106	.	.	.	.	.	T	0.09113	0.0225	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.23904	-1.0175	8	0.87932	D	0	.	3.1189	0.06385	0.0:0.474:0.2276:0.2983	.	5356	B5ME49	.	E	5356	ENSP00000381008:Q5356E	ENSP00000381008:Q5356E	Q	-	1	0	MUC16	8932380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.404000	0.07205	-0.259000	0.09432	-0.647000	0.03941	CAG		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	625	0	0	0	1	0	4	625				
ABCA13	154664	broad.mit.edu	37	7	48411763	48411763	+	Splice_Site	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:48411763A>T	ENST00000435803.1	+	33	10827		c.e33-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTTTTGGTAGTATATGCGG	0.468																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.e33-1		ATP-binding cassette, sub-family A (ABC1), member 13							123.0	114.0	117.0					7																	48411763		1970	4145	6115	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411763A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10804-1A>T	7.37:g.48411763A>T								NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			33	10827	+								K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37		CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100703	0.37048	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5635	0.76269	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48382309	1.000000	0.71417	0.963000	0.40424	0.101000	0.19017	8.023000	0.88764	2.326000	0.78906	0.533000	0.62120	.		0.468	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron	4	107	0	0	0	1	0	4	107				
THSD4	79875	broad.mit.edu	37	15	72069615	72069615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:72069615C>T	ENST00000355327.3	+	18	3093	c.2959C>T	c.(2959-2961)Cag>Tag	p.Q987*	THSD4_ENST00000261862.6_Nonsense_Mutation_p.Q987*|THSD4_ENST00000357769.4_Nonsense_Mutation_p.Q627*			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	987	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGTGGTGGTCCAGGCAAGACT	0.542																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2959-2961)Cag>Tag		thrombospondin, type I, domain containing 4							103.0	105.0	104.0					15																	72069615		2113	4230	6343	SO:0001587	stop_gained	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72069615C>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2959C>T	15.37:g.72069615C>T	ENSP00000347484:p.Gln987*					THSD4_ENST00000357769.4_Nonsense_Mutation_p.Q627*|THSD4_ENST00000261862.6_Nonsense_Mutation_p.Q987*	p.Q987*			Q6ZMP0	THSD4_HUMAN			18	3093	+			987			PLAC.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Nonsense_Mutation	SNP	ENST00000355327.3	37	c.2959C>T	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	41	8.641644	0.98897	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	15.4645	0.75387	0.0:1.0:0.0:0.0	.	.	.	.	X	987;987;627	.	ENSP00000261862:Q987X	Q	+	1	0	THSD4	69856669	1.000000	0.71417	0.973000	0.42090	0.971000	0.66376	7.649000	0.83500	2.238000	0.73509	0.655000	0.94253	CAG		0.542	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		24	437	0	0	0	1	0	24	437				
TBC1D1	23216	broad.mit.edu	37	4	38022213	38022213	+	Splice_Site	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:38022213G>A	ENST00000261439.4	+	5	1329	c.974G>A	c.(973-975)gGc>gAc	p.G325D	TBC1D1_ENST00000508802.1_Splice_Site_p.G325D	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	325	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTTTGGCAGGGCATCAGACAC	0.458																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.e5-1		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							270.0	259.0	263.0					4																	38022213		2203	4300	6503	SO:0001630	splice_region_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38022213G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.973-1G>A	4.37:g.38022213G>A						TBC1D1_ENST00000508802.1_Splice_Site_p.G325_splice	p.G325_splice	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			5	1329	+			325			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Splice_Site	SNP	ENST00000261439.4	37	c.972_splice	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905016	0.92035	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.14266	2.52;2.52;2.52	5.48	5.48	0.80851	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.51477	D	0.000095	T	0.36054	0.0953	L	0.54908	1.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.03555	-1.1025	10	0.87932	D	0	-20.7573	19.3503	0.94381	0.0:0.0:1.0:0.0	.	325;325;325	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	D	325;325;196	ENSP00000423651:G325D;ENSP00000261439:G325D;ENSP00000396877:G196D	ENSP00000261439:G325D	G	+	2	0	TBC1D1	37698608	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	9.730000	0.98797	2.576000	0.86940	0.467000	0.42956	GGC		0.458	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	Missense_Mutation	5	417	0	0	0	1	0	5	417				
OR51I2	390064	broad.mit.edu	37	11	5475319	5475319	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:5475319T>C	ENST00000341449.2	+	1	682	c.601T>C	c.(601-603)Ttt>Ctt	p.F201L	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	201					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATGGACTCTTTGTTCTTGT	0.473																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(601-603)Ttt>Ctt		olfactory receptor, family 51, subfamily I, member 2							380.0	320.0	340.0					11																	5475319		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475319T>C	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.601T>C	11.37:g.5475319T>C	ENSP00000341987:p.Phe201Leu					HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	p.F201L	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	682	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	201					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.601T>C	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463044	0.43736	.	.	ENSG00000187918	ENST00000341449	T	0.00123	8.7	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.092151	0.48767	D	0.000171	T	0.00210	0.0006	M	0.65320	2	0.31294	N	0.689077	P	0.35192	0.489	B	0.39379	0.298	T	0.57021	-0.7882	10	0.25751	T	0.34	.	14.7227	0.69320	0.0:0.0:0.0:1.0	.	201	Q9H344	O51I2_HUMAN	L	201	ENSP00000341987:F201L	ENSP00000341987:F201L	F	+	1	0	OR51I2	5431895	0.000000	0.05858	1.000000	0.80357	0.634000	0.38068	0.294000	0.19047	2.343000	0.79666	0.533000	0.62120	TTT		0.473	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		4	444	0	0	0	1	0	4	444				
CTNNA2	1496	broad.mit.edu	37	2	80097056	80097056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:80097056C>T	ENST00000402739.4	+	4	585	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000466387.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.Q228*	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	194					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCAAGAAGACAACAGGTGGG	0.403																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(580-582)Caa>Taa		catenin (cadherin-associated protein), alpha 2							107.0	100.0	102.0					2																	80097056		1848	4106	5954	SO:0001587	stop_gained	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80097056C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.580C>T	2.37:g.80097056C>T	ENSP00000384638:p.Gln194*					CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.Q194*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.Q228*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.Q194*	p.Q194*			P26232	CTNA2_HUMAN			9	1304	+			194					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Nonsense_Mutation	SNP	ENST00000402739.4	37	c.580C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.623966	0.98890	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	.	.	.	X	194;194;228;194;194;194	.	ENSP00000355398:Q228X	Q	+	1	0	CTNNA2	79950564	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.498000	0.81546	2.808000	0.96608	0.655000	0.94253	CAA		0.403	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		25	127	0	0	0	1	0	25	127				
ABL1	25	broad.mit.edu	37	9	133753879	133753879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr9:133753879G>T	ENST00000318560.5	+	8	1729	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	450	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCAGGTGTATGAGCTGCTAGA	0.502			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1348-1350)Gag>Tag		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						173.0	169.0	170.0					9																	133753879		2203	4300	6503	SO:0001587	stop_gained	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133753879G>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1348G>T	9.37:g.133753879G>T	ENSP00000323315:p.Glu450*						p.E450*	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	8	1729	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	450			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Nonsense_Mutation	SNP	ENST00000318560.5	37	c.1348G>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	43	9.902776	0.99292	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	5.16	5.16	0.70880	.	0.051316	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.9943	0.89178	0.0:0.0:1.0:0.0	.	.	.	.	X	265;469;450	.	ENSP00000323315:E450X	E	+	1	0	ABL1	132743700	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.813000	0.99286	2.563000	0.86464	0.655000	0.94253	GAG		0.502	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		8	362	1	0	1.06961e-07	1	1.15383e-07	8	362				
IGSF22	283284	broad.mit.edu	37	11	18736130	18736130	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:18736130C>T	ENST00000513874.1	-	12	1712	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	525								p.A525T(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCAGTGGCCGCGTGCACGTCG	0.612																																						ENST00000513874.1																			2	Substitution - Missense(2)	p.A525T(2)	endometrium(2)	NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1573-1575)Gcg>Acg		immunoglobulin superfamily, member 22							97.0	103.0	101.0					11																	18736130		2125	4236	6361	SO:0001583	missense	283284							g.chr11:18736130C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1573G>A	11.37:g.18736130C>T	ENSP00000421191:p.Ala525Thr					RP11-1081L13.4_ENST00000527285.1_RNA	p.A525T	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			12	1712	-			525					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1573G>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684541	0.47991	.	.	ENSG00000179057	ENST00000513874	T	0.44881	0.91	4.51	2.56	0.30785	.	0.222355	0.22649	N	0.057359	T	0.43500	0.1250	L	0.31926	0.97	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.20638	-1.0269	10	0.25751	T	0.34	.	3.8325	0.08880	0.1725:0.5787:0.156:0.0928	.	525	D6RGV7	.	T	525	ENSP00000421191:A525T	ENSP00000322422:A525T	A	-	1	0	IGSF22	18692706	0.014000	0.17966	0.147000	0.22382	0.477000	0.33069	1.404000	0.34623	0.315000	0.23110	0.551000	0.68910	GCG		0.612	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		40	174	0	0	0	1	0	40	174				
FAM135B	51059	broad.mit.edu	37	8	139151243	139151243	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr8:139151243A>T	ENST00000395297.1	-	18	4057	c.3887T>A	c.(3886-3888)cTa>cAa	p.L1296Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1296										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTTTGGCTTAGTTGGTAGAG	0.448										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3886-3888)cTa>cAa		family with sequence similarity 135, member B							120.0	116.0	117.0					8																	139151243		1876	4116	5992	SO:0001583	missense	51059							g.chr8:139151243A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3887T>A	8.37:g.139151243A>T	ENSP00000378710:p.Leu1296Gln	HNSCC(54;0.14)					p.L1296Q	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4057	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1296					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3887T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506384	0.85282	.	.	ENSG00000147724	ENST00000395297	T	0.55413	0.52	5.58	5.58	0.84498	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.64402	D	0.000004	T	0.80099	0.4561	H	0.94925	3.6	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.85891	0.1428	10	0.87932	D	0	-11.1049	14.9336	0.70935	1.0:0.0:0.0:0.0	.	1296	Q49AJ0	F135B_HUMAN	Q	1296	ENSP00000378710:L1296Q	ENSP00000378710:L1296Q	L	-	2	0	FAM135B	139220425	1.000000	0.71417	0.630000	0.29268	0.998000	0.95712	9.339000	0.96797	2.136000	0.66102	0.533000	0.62120	CTA		0.448	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		5	175	0	0	0	1	0	5	175				
ZNF543	125919	broad.mit.edu	37	19	57839655	57839655	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:57839655G>A	ENST00000321545.4	+	4	1170	c.825G>A	c.(823-825)cgG>cgA	p.R275R		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCACCAGCGGATTCACAGTG	0.522																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(823-825)cgG>cgA		zinc finger protein 543							56.0	56.0	56.0					19																	57839655		2203	4300	6503	SO:0001819	synonymous_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839655G>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.825G>A	19.37:g.57839655G>A							p.R275R	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1170	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	275					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	ENST00000321545.4	37	c.825G>A	CCDS33130.1																																																																																				0.522	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		23	98	0	0	0	1	0	23	98				
KMT2C	58508	broad.mit.edu	37	7	151874941	151874941	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:151874941T>G	ENST00000262189.6	-	38	7815	c.7597A>C	c.(7597-7599)Aat>Cat	p.N2533H	KMT2C_ENST00000355193.2_Missense_Mutation_p.N2533H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2533	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCAACTGGATTATTCATTTGT	0.443																																						ENST00000355193.2																			0											c.(7597-7599)Aat>Cat		lysine (K)-specific methyltransferase 2C							127.0	131.0	129.0					7																	151874941		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151874941T>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7597A>C	7.37:g.151874941T>G	ENSP00000262189:p.Asn2533His					KMT2C_ENST00000262189.6_Missense_Mutation_p.N2533H	p.N2533H							38	7815	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.7597A>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.72|11.72	1.723893|1.723893	0.30593|0.30593	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.84589|.	-1.87;-1.87|.	5.48|5.48	3.05|3.05	0.35203|0.35203	.|.	0.129457|.	0.34088|.	N|.	0.004270|.	T|.	0.60405|.	0.2266|.	M|M	0.62723|0.62723	1.935|1.935	0.54753|0.54753	D|D	0.999982|0.999982	D;D;D|.	0.76494|.	0.994;0.999;0.999|.	P;D;D|.	0.73380|.	0.832;0.952;0.98|.	T|.	0.54309|.	-0.8313|.	10|.	0.41790|.	T|.	0.15|.	.|.	7.8768|7.8768	0.29599|0.29599	0.0:0.0713:0.1389:0.7898|0.0:0.0713:0.1389:0.7898	.|.	2533;1594;2533|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	H|S	2533|38	ENSP00000262189:N2533H;ENSP00000347325:N2533H|.	ENSP00000262189:N2533H|.	N|X	-|-	1|2	0|2	MLL3|MLL3	151505874|151505874	1.000000|1.000000	0.71417|0.71417	0.012000|0.012000	0.15200|0.15200	0.891000|0.891000	0.51852|0.51852	3.730000|3.730000	0.55006|0.55006	0.376000|0.376000	0.24707|0.24707	0.529000|0.529000	0.55759|0.55759	AAT|TAA		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	131	0	0	0	1	0	4	131				
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:39757017T>A	ENST00000361418.5	-	7	919		c.e7-2		KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000395670.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.e7-2		kinesin family member 21A							95.0	93.0	94.0					12																	39757017		2203	4300	6503	SO:0001630	splice_region_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39757017T>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.904-2A>T	12.37:g.39757017T>A						KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site				Q7Z4S6	KI21A_HUMAN			7	1323	-		Lung NSC(34;0.179)|all_lung(34;0.213)						A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Splice_Site	SNP	ENST00000361418.5	37		CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306185	0.60305	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7019	0.69162	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21A	38043284	1.000000	0.71417	0.991000	0.47740	0.633000	0.38033	3.341000	0.52151	1.880000	0.54463	0.460000	0.39030	.		0.333	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Intron	4	114	0	0	0	1	0	4	114				
ANKH	56172	broad.mit.edu	37	5	14751238	14751238	+	Silent	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:14751238G>A	ENST00000284268.6	-	5	957	c.627C>T	c.(625-627)tgC>tgT	p.C209C	ANKH_ENST00000535119.1_Silent_p.C11C|ANKH_ENST00000503939.1_5'UTR	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	209					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTAGCCCAGGCACAGGGTGG	0.572																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(625-627)tgC>tgT		ANKH inorganic pyrophosphate transport regulator							88.0	81.0	83.0					5																	14751238		2203	4300	6503	SO:0001819	synonymous_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14751238G>A	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.627C>T	5.37:g.14751238G>A						ANKH_ENST00000535119.1_Silent_p.C11C|ANKH_ENST00000503939.1_5'UTR	p.C209C	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			5	957	-			209					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	c.627C>T	CCDS3885.1																																																																																				0.572	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		17	135	0	0	0	1	0	17	135				
SF3B6	51639	broad.mit.edu	37	2	24291303	24291303	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:24291303G>C	ENST00000233468.4	-	3	389	c.176C>G	c.(175-177)aCa>aGa	p.T59R		NM_016047.3	NP_057131.1														NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATAAGCTGTTCCTCTAGT	0.383																																						ENST00000233468.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(175-177)aCa>aGa									152.0	138.0	143.0					2																	24291303		2203	4300	6503	SO:0001583	missense	51639				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr2:24291303G>C																												ENST00000233468.4:c.176C>G	2.37:g.24291303G>C	ENSP00000233468:p.Thr59Arg						p.T59R	NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN			3	389	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		59			RRM.			Missense_Mutation	SNP	ENST00000233468.4	37	c.176C>G	CCDS1707.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916293	0.92249	.	.	ENSG00000115128	ENST00000233468	T	0.16457	2.34	5.05	5.05	0.67936	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55522	-0.8128	10	0.87932	D	0	-25.0545	19.279	0.94044	0.0:0.0:1.0:0.0	.	59	Q9Y3B4	PM14_HUMAN	R	59	ENSP00000233468:T59R	ENSP00000233468:T59R	T	-	2	0	AC008073.5	24144807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.762000	0.98944	2.729000	0.93468	0.650000	0.86243	ACA		0.383	SF3B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246826.1			3	266	0	0	0	1	0	3	266				
USP24	23358	broad.mit.edu	37	1	55622657	55622657	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:55622657C>T	ENST00000294383.6	-	12	1409	c.1410G>A	c.(1408-1410)ttG>ttA	p.L470L	USP24_ENST00000407756.1_Silent_p.L358L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	470					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATCTAACGACAATTTACTAC	0.368																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1408-1410)ttG>ttA		ubiquitin specific peptidase 24							189.0	184.0	186.0					1																	55622657		1835	4091	5926	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55622657C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1410G>A	1.37:g.55622657C>T						USP24_ENST00000407756.1_Silent_p.L358L	p.L470L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			12	1409	-			470					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.1410G>A	CCDS44154.2																																																																																				0.368	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			26	226	0	0	0	1	0	26	226				
KCNN3	3782	broad.mit.edu	37	1	154744736	154744736	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:154744736G>A	ENST00000271915.4	-	3	1478	c.1163C>T	c.(1162-1164)gCa>gTa	p.A388V	KCNN3_ENST00000358505.2_Missense_Mutation_p.A75V|KCNN3_ENST00000361147.4_Missense_Mutation_p.A83V	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	393					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGCCAGGCGTGCCGTCCAGAA	0.607																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(1162-1164)gCa>gTa		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							67.0	61.0	63.0					1																	154744736		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154744736G>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1163C>T	1.37:g.154744736G>A	ENSP00000271915:p.Ala388Val					KCNN3_ENST00000358505.2_Missense_Mutation_p.A75V|KCNN3_ENST00000361147.4_Missense_Mutation_p.A83V	p.A388V	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		3	1478	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		393					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.1163C>T	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915320	0.92178	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.98531	-4.98;-3.85;-4.98	4.69	4.69	0.59074	.	0.000000	0.53938	D	0.000044	D	0.98661	0.9551	M	0.70595	2.14	0.58432	D	0.999999	D;D;P	0.76494	0.999;0.993;0.553	D;D;P	0.80764	0.994;0.978;0.559	D	0.99885	1.1121	10	0.87932	D	0	-8.3302	17.4259	0.87526	0.0:0.0:1.0:0.0	.	394;393;83	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	V	83;388;75	ENSP00000354764:A83V;ENSP00000271915:A388V;ENSP00000351295:A75V	ENSP00000271915:A388V	A	-	2	0	KCNN3	153011360	1.000000	0.71417	0.738000	0.30950	0.925000	0.55904	9.652000	0.98499	2.415000	0.81967	0.561000	0.74099	GCA		0.607	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		19	132	0	0	0	1	0	19	132				
PKHD1	5314	broad.mit.edu	37	6	51524031	51524031	+	Silent	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:51524031A>G	ENST00000371117.3	-	61	11168	c.10893T>C	c.(10891-10893)taT>taC	p.Y3631Y		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3631					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.Y3631Y(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAACTCTTCTATAATGACTAG	0.448																																						ENST00000371117.3																			1	Substitution - coding silent(1)	p.Y3631Y(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10891-10893)taT>taC		polycystic kidney and hepatic disease 1 (autosomal recessive)							122.0	121.0	121.0					6																	51524031		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524031A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10893T>C	6.37:g.51524031A>G							p.Y3631Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	11168	-	Lung NSC(77;0.0605)		3631					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10893T>C	CCDS4935.1																																																																																				0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		79	267	0	0	0	1	0	79	267				
RPRD1B	58490	broad.mit.edu	37	20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	190					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGGAAAATGCCGCATCAGGG	0.413																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(568-570)gCc>gTc		regulation of nuclear pre-mRNA domain containing 1B							108.0	101.0	103.0					20																	36687836		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36687836C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.569C>T	20.37:g.36687836C>T	ENSP00000362532:p.Ala190Val						p.A190V	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			5	971	+			190					Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.569C>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667224	0.96745	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.4	5.4	0.78164	.	0.046127	0.85682	D	0.000000	T	0.71005	0.3289	M	0.68593	2.085	0.80722	D	1	P	0.51653	0.947	P	0.50537	0.643	T	0.74438	-0.3665	9	0.72032	D	0.01	-10.9352	18.3479	0.90328	0.0:1.0:0.0:0.0	.	190	Q9NQG5	RPR1B_HUMAN	V	190;72	.	ENSP00000362532:A190V	A	+	2	0	RPRD1B	36121250	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.651000	0.83577	2.814000	0.96858	0.563000	0.77884	GCC		0.413	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		4	352	0	0	0	1	0	4	352				
TNS1	7145	broad.mit.edu	37	2	218669198	218669198	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:218669198G>A	ENST00000171887.4	-	33	5644	c.5192C>T	c.(5191-5193)gCc>gTc	p.A1731V	TNS1_ENST00000430930.1_Missense_Mutation_p.A1710V|TNS1_ENST00000419504.1_Missense_Mutation_p.A1717V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1731					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.A1731V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTTTTGGCCGGCATTCAGCAT	0.612																																						ENST00000171887.4																			1	Substitution - Missense(1)	p.A1731V(1)	lung(1)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(5191-5193)gCc>gTc		tensin 1							111.0	105.0	107.0					2																	218669198		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218669198G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.5192C>T	2.37:g.218669198G>A	ENSP00000171887:p.Ala1731Val					TNS1_ENST00000430930.1_Missense_Mutation_p.A1710V|TNS1_ENST00000419504.1_Missense_Mutation_p.A1717V	p.A1731V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	33	5644	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1731					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.5192C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	g	14.05	2.420453	0.42918	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.72	4.72	0.59763	Phosphotyrosine interaction domain (1);Tensin phosphotyrosine-binding domain (1);	0.614408	0.16923	N	0.193990	T	0.29556	0.0737	L	0.43923	1.385	0.80722	D	1	P;P;B	0.40000	0.698;0.521;0.132	B;B;B	0.37550	0.253;0.197;0.158	T	0.13150	-1.0520	10	0.52906	T	0.07	.	16.0626	0.80847	0.0:0.0:1.0:0.0	.	1731;1710;1717	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	V	1731;869;1717;1710	ENSP00000171887:A1731V;ENSP00000394171:A869V;ENSP00000408724:A1717V;ENSP00000406016:A1710V	ENSP00000171887:A1731V	A	-	2	0	TNS1	218377443	.	.	0.431000	0.26735	0.277000	0.26821	.	.	2.450000	0.82876	0.394000	0.25966	GCC		0.612	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		5	372	0	0	0	1	0	5	372				
EPHB4	2050	broad.mit.edu	37	7	100401094	100401094	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:100401094G>C	ENST00000358173.3	-	17	3421	c.2953C>G	c.(2953-2955)Ccg>Gcg	p.P985A	EPHB4_ENST00000360620.3_Missense_Mutation_p.P933A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	985					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGTACTGCGGGGCCGGTCCT	0.662																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2953-2955)Ccg>Gcg		EPH receptor B4							35.0	37.0	36.0					7																	100401094		2201	4297	6498	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100401094G>C	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2953C>G	7.37:g.100401094G>C	ENSP00000350896:p.Pro985Ala					EPHB4_ENST00000360620.3_Missense_Mutation_p.P933A	p.P985A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			17	3421	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		985					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2953C>G	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998855	0.54147	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.73363	-0.74;-0.69	4.85	4.85	0.62838	.	0.143292	0.32147	N	0.006512	T	0.60715	0.2290	N	0.14661	0.345	0.20074	N	0.999939	B;B	0.12630	0.006;0.002	B;B	0.14023	0.01;0.01	T	0.59166	-0.7505	10	0.87932	D	0	.	15.5311	0.75964	0.0:0.0:1.0:0.0	.	933;985	Q96L35;P54760	.;EPHB4_HUMAN	A	933;985	ENSP00000353833:P933A;ENSP00000350896:P985A	ENSP00000350896:P985A	P	-	1	0	EPHB4	100239030	.	.	0.813000	0.32504	0.106000	0.19336	.	.	2.249000	0.74217	0.456000	0.33151	CCG		0.662	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		7	27	0	0	0	1	0	7	27				
FRZB	2487	broad.mit.edu	37	2	183731161	183731161	+	Silent	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:183731161G>T	ENST00000295113.4	-	1	729	c.120C>A	c.(118-120)atC>atA	p.I40I		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	40	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCACAGGGGGATGCGGACGG	0.672																																						ENST00000295113.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(118-120)atC>atA		frizzled-related protein							52.0	43.0	46.0					2																	183731161		2203	4300	6503	SO:0001819	synonymous_variant	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183731161G>T	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.120C>A	2.37:g.183731161G>T							p.I40I	NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		1	729	-			40			FZ.		O00181|Q99686	Silent	SNP	ENST00000295113.4	37	c.120C>A	CCDS2286.1																																																																																				0.672	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		17	88	1	0	1.62849e-17	1	1.81385e-17	17	88				
ABCA6	23460	broad.mit.edu	37	17	67079118	67079118	+	Silent	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:67079118A>G	ENST00000284425.2	-	36	4686	c.4512T>C	c.(4510-4512)ctT>ctC	p.L1504L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1504	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)					AATCCTTGCCAAGTTTGTTTT	0.398																																						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.(4510-4512)ctT>ctC		ATP-binding cassette, sub-family A (ABC1), member 6							192.0	198.0	196.0					17																	67079118		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67079118A>G	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.4512T>C	17.37:g.67079118A>G						ABCA6_ENST00000446604.2_5'UTR	p.L1504L	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			36	4686	-	Breast(10;5.65e-12)		1504			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.4512T>C	CCDS11683.1																																																																																				0.398	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		4	670	0	0	0	1	0	4	670				
CASP12	100506742	broad.mit.edu	37	11	104762024	104762024	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:104762024C>T	ENST00000422698.2	-	4	558	c.540G>A	c.(538-540)ggG>ggA	p.G180G	CASP12_ENST00000508062.1_Silent_p.G96G|CASP12_ENST00000494737.1_Intron|CASP12_ENST00000446862.1_Silent_p.G180G|CASP12_ENST00000375726.2_Silent_p.G180G|CASP12_ENST00000448103.1_Intron|CASP12_ENST00000441710.1_Silent_p.G180G|CASP12_ENST00000433738.1_Intron|CASP12_ENST00000447913.1_Intron	NM_001191016.1	NP_001177945.1	Q6UXS9	CASPC_HUMAN	caspase 12 (gene/pseudogene)	180					endoplasmic reticulum unfolded protein response (GO:0030968)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)			breast(1)	1						AGTGCTTGGTCCCACAGATTC	0.473																																						ENST00000422698.2																			0				breast(1)	1						c.(538-540)ggG>ggA		caspase 12 (gene/pseudogene)																																				SO:0001819	synonymous_variant	100506742				apoptosis|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity	g.chr11:104762024C>T	AF464191		11q22.3	2011-02-14	2007-12-17	2006-02-17	ENSG00000204403	ENSG00000204403		"""Caspases"""	19004	protein-coding gene	gene with protein product		608633	"""caspase 12 pseudogene 1"", ""caspase 12"""	CASP12P1		12054529, 9038361, 16917906, 16532395	Standard	NM_001191016		Approved		uc031qdo.1	Q6UXS9	OTTHUMG00000154965	ENST00000422698.2:c.540G>A	11.37:g.104762024C>T						CASP12_ENST00000441710.1_Silent_p.G180G|CASP12_ENST00000494737.1_Intron|CASP12_ENST00000508062.1_Silent_p.G96G|CASP12_ENST00000433738.1_Intron|CASP12_ENST00000448103.1_Intron|CASP12_ENST00000446862.1_Silent_p.G180G|CASP12_ENST00000447913.1_Intron|CASP12_ENST00000375726.2_Silent_p.G180G	p.G180G	NM_001191016.1	NP_001177945.1	Q6UXS9	CASPC_HUMAN			4	558	-			180					D6RBN7	Silent	SNP	ENST00000422698.2	37	c.540G>A	CCDS55785.1																																																																																				0.473	CASP12-008	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337832.2	NM_001191016		3	8	0	0	0	1	0	3	8				
ZNF107	51427	broad.mit.edu	37	7	64166913	64166913	+	Missense_Mutation	SNP	G	G	C	rs201233350		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:64166913G>C	ENST00000395391.1	+	4	1606	c.231G>C	c.(229-231)caG>caC	p.Q77H	ZNF107_ENST00000423627.1_Missense_Mutation_p.Q77H|ZNF107_ENST00000344930.3_Missense_Mutation_p.Q77H			Q9UII5	ZN107_HUMAN	zinc finger protein 107	77					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.Q77H(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAATATTCCAGTGTAATAAAT	0.333																																						ENST00000395391.1																			1	Substitution - Missense(1)	p.Q77H(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(229-231)caG>caC		zinc finger protein 107							56.0	52.0	53.0					7																	64166913		2203	4300	6503	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64166913G>C	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.231G>C	7.37:g.64166913G>C	ENSP00000378789:p.Gln77His					ZNF107_ENST00000423627.1_Missense_Mutation_p.Q77H|ZNF107_ENST00000344930.3_Missense_Mutation_p.Q77H	p.Q77H			Q9UII5	ZN107_HUMAN			4	1606	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	77						Missense_Mutation	SNP	ENST00000395391.1	37	c.231G>C	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	6.495	0.459614	0.12342	.	.	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T;T	0.36520	4.51;1.25;1.25;1.25	0.916	-1.83	0.07833	.	.	.	.	.	T	0.43656	0.1257	M	0.94142	3.5	0.09310	N	1	B	0.25206	0.12	B	0.23018	0.043	T	0.43196	-0.9406	9	0.59425	D	0.04	.	3.3593	0.07181	0.3596:0.2313:0.4091:0.0	.	77	Q9UII5	ZN107_HUMAN	H	77	ENSP00000353234:Q77H;ENSP00000343443:Q77H;ENSP00000400037:Q77H;ENSP00000378789:Q77H	ENSP00000343443:Q77H	Q	+	3	2	ZNF107	63804348	0.002000	0.14202	0.006000	0.13384	0.006000	0.05464	-1.325000	0.02687	-2.126000	0.00820	-2.125000	0.00346	CAG		0.333	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		7	27	0	0	0	1	0	7	27				
PCDHA3	56145	broad.mit.edu	37	5	140182210	140182210	+	Silent	SNP	G	G	T	rs368335379		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:140182210G>T	ENST00000522353.2	+	1	1428	c.1428G>T	c.(1426-1428)acG>acT	p.T476T	PCDHA3_ENST00000532566.2_Silent_p.T476T|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	476	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGC	0.667																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1426-1428)acG>acT				G	,,,,	0,4406		0,0,2203	84.0	89.0	87.0		,,1428,,1428	-0.5	1.0	5		87	1,8593		0,1,4296	no	intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_031411.1,NM_031497.1	,,,,	0,1,6499	TT,TG,GG		0.0116,0.0,0.0077	,,,,	,,476/951,,476/825	140182210	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	56145							g.chr5:140182210G>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1428G>T	5.37:g.140182210G>T						PCDHA3_ENST00000532566.2_Silent_p.T476T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	p.T476T	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1428	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1428G>T	CCDS54915.1																																																																																				0.667	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	300	1	0	0.000442599	1	0.000462871	5	300				
FMO5	2330	broad.mit.edu	37	1	146696569	146696569	+	Missense_Mutation	SNP	G	G	A	rs373414071		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:146696569G>A	ENST00000254090.4	-	2	441	c.53C>T	c.(52-54)tCc>tTc	p.S18F	FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Missense_Mutation_p.S18F|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.S18F	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	18						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GCACTTGATGGAAGAGAGCCC	0.502																																						ENST00000254090.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.(52-54)tCc>tTc		flavin containing monooxygenase 5		G	PHE/SER,PHE/SER,PHE/SER	1,4405	2.1+/-5.4	0,1,2202	145.0	135.0	138.0		53,53,53	1.0	0.1	1		138	0,8600		0,0,4300	no	missense,missense,missense	FMO5	NM_001144829.1,NM_001144830.1,NM_001461.2	155,155,155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	18/465,18/286,18/534	146696569	1,13005	2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146696569G>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.53C>T	1.37:g.146696569G>A	ENSP00000254090:p.Ser18Phe					FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Missense_Mutation_p.S18F|FMO5_ENST00000441068.2_Missense_Mutation_p.S18F	p.S18F	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN			2	441	-	all_hematologic(923;0.0487)		18					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.53C>T	CCDS926.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780700	0.70222	2.27E-4	0.0	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272;ENST00000533174;ENST00000533848	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.37	1.04	0.20106	.	0.472546	0.25654	N	0.029195	T	0.67277	0.2876	M	0.89904	3.07	0.19300	N	0.999974	D;D;P;D	0.71674	0.981;0.995;0.767;0.998	D;D;P;D	0.73708	0.948;0.958;0.74;0.981	T	0.69327	-0.5174	10	0.87932	D	0	-4.2792	16.4392	0.83894	0.0:0.5631:0.4369:0.0	.	18;18;18;18	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	F	18	ENSP00000416011:S18F;ENSP00000254090:S18F;ENSP00000358277:S18F;ENSP00000436429:S18F;ENSP00000432569:S18F	ENSP00000254090:S18F	S	-	2	0	FMO5	145163193	0.883000	0.30277	0.086000	0.20670	0.984000	0.73092	1.776000	0.38594	0.011000	0.14865	0.650000	0.86243	TCC		0.502	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		33	185	0	0	0	1	0	33	185				
LCTL	197021	broad.mit.edu	37	15	66850172	66850172	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:66850172A>C	ENST00000341509.5	-	8	941	c.810T>G	c.(808-810)atT>atG	p.I270M	LCTL_ENST00000537670.1_Missense_Mutation_p.I97M	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	270					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGGGTTACTAATGTCCACAG	0.512																																						ENST00000341509.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(808-810)atT>atG		lactase-like							96.0	104.0	101.0					15																	66850172		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66850172A>C	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.810T>G	15.37:g.66850172A>C	ENSP00000343490:p.Ile270Met					LCTL_ENST00000537670.1_Missense_Mutation_p.I97M	p.I270M	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN			8	941	-			270					B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.810T>G	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.994355	0.35226	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.31769	1.48;1.48	5.66	-8.56	0.00904	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.635174	0.17053	N	0.188842	T	0.24586	0.0596	L	0.44542	1.39	0.09310	N	0.999997	P	0.35155	0.487	B	0.44085	0.44	T	0.27938	-1.0059	10	0.54805	T	0.06	-2.8872	8.3099	0.32064	0.0744:0.2302:0.6128:0.0825	.	270	Q6UWM7	LCTL_HUMAN	M	97;270	ENSP00000445419:I97M;ENSP00000343490:I270M	ENSP00000343490:I270M	I	-	3	3	LCTL	64637226	0.457000	0.25752	0.000000	0.03702	0.261000	0.26267	-0.160000	0.10041	-1.813000	0.01226	-0.313000	0.08912	ATT		0.512	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		5	260	0	0	0	1	0	5	260				
ZNF182	7569	broad.mit.edu	37	X	47836772	47836772	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chrX:47836772T>C	ENST00000396965.1	-	7	1064	c.714A>G	c.(712-714)gcA>gcG	p.A238A	ZNF182_ENST00000305127.6_Silent_p.A238A|ZNF182_ENST00000376943.3_Silent_p.A219A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	238					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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTTCCTACATGCAGTACATT	0.408																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(712-714)gcA>gcG		zinc finger protein 182							78.0	76.0	77.0					X																	47836772		2203	4300	6503	SO:0001819	synonymous_variant	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836772T>C	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.714A>G	X.37:g.47836772T>C						ZNF182_ENST00000305127.6_Silent_p.A238A|ZNF182_ENST00000376943.3_Silent_p.A219A	p.A238A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	1064	-			238					A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.714A>G	CCDS35236.1																																																																																				0.408	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		19	34	0	0	0	1	0	19	34				
CRIPAK	285464	broad.mit.edu	37	4	1388471	1388471	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:1388471C>T	ENST00000324803.4	+	1	3132	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	58					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACGTGCCCATGT	0.637																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(172-174)Cgt>Tgt		cysteine-rich PAK1 inhibitor							256.0	239.0	245.0					4																	1388471		2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388471C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.172C>T	4.37:g.1388471C>T	ENSP00000323978:p.Arg58Cys						p.R58C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3132	+			58					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.172C>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242707	0.22796	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.25912	1.77	1.11	-2.22	0.06952	.	.	.	.	.	T	0.10852	0.0265	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.06405	0.002	T	0.22417	-1.0217	9	0.72032	D	0.01	.	5.2904	0.15723	0.0:0.3764:0.0:0.6236	.	58	Q8N1N5	CRPAK_HUMAN	C	58;51	ENSP00000323978:R58C	ENSP00000323978:R58C	R	+	1	0	CRIPAK	1378471	0.029000	0.19370	0.001000	0.08648	0.005000	0.04900	1.181000	0.32017	-0.604000	0.05760	-0.506000	0.04501	CGT		0.637	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		6	370	0	0	0	1	0	6	370				
ARMC5	79798	broad.mit.edu	37	16	31473348	31473348	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr16:31473348C>T	ENST00000563544.1	+	3	1127	c.581C>T	c.(580-582)gCt>gTt	p.A194V	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000268314.4_Missense_Mutation_p.A194V|ARMC5_ENST00000457010.2_Missense_Mutation_p.A194V|ARMC5_ENST00000538189.1_Missense_Mutation_p.A226V|ARMC5_ENST00000412665.2_Missense_Mutation_p.A30V|ARMC5_ENST00000408912.3_Missense_Mutation_p.A289V			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	194										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCCACTGTGCTGGTAAGAGG	0.567																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(580-582)gCt>gTt		armadillo repeat containing 5							135.0	145.0	142.0					16																	31473348		2099	4217	6316	SO:0001583	missense	79798						binding	g.chr16:31473348C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.581C>T	16.37:g.31473348C>T	ENSP00000456877:p.Ala194Val					ARMC5_ENST00000412665.2_Missense_Mutation_p.A30V|ARMC5_ENST00000268314.4_Missense_Mutation_p.A194V|ARMC5_ENST00000538189.1_Missense_Mutation_p.A226V|ARMC5_ENST00000408912.3_Missense_Mutation_p.A289V|ARMC5_ENST00000563544.1_Missense_Mutation_p.A194V	p.A194V	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			2	1282	+			194					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.581C>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	19.66	3.869608	0.72065	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	4.15	4.15	0.48705	Armadillo-like helical (1);Armadillo-type fold (1);	0.064020	0.64402	D	0.000008	T	0.63558	0.2521	L	0.58101	1.795	0.34116	D	0.663554	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.973	T	0.73874	-0.3845	10	0.52906	T	0.07	-12.4689	14.0017	0.64437	0.0:1.0:0.0:0.0	.	226;226;289;194;194	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	V	289;226;194;194;30	ENSP00000386125:A289V;ENSP00000443995:A226V;ENSP00000268314:A194V;ENSP00000399561:A194V;ENSP00000400183:A30V	ENSP00000268314:A194V	A	+	2	0	ARMC5	31380849	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	6.178000	0.71968	2.168000	0.68352	0.556000	0.70494	GCT		0.567	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		3	169	0	0	0	1	0	3	169				
KRT82	3888	broad.mit.edu	37	12	52793886	52793886	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:52793886C>T	ENST00000257974.2	-	5	902	c.825G>A	c.(823-825)gtG>gtA	p.V275V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	275	Linker 12.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGTCCATCTTCACAATGACCG	0.602																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(823-825)gtG>gtA		keratin 82							80.0	70.0	74.0					12																	52793886		2203	4300	6503	SO:0001819	synonymous_variant	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52793886C>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.825G>A	12.37:g.52793886C>T						RP3-416H24.4_ENST00000547174.1_RNA	p.V275V	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	5	902	-			275			Linker 12.|Rod.			Silent	SNP	ENST00000257974.2	37	c.825G>A	CCDS8826.1																																																																																				0.602	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		21	130	0	0	0	1	0	21	130				
SULT1B1	27284	broad.mit.edu	37	4	70592819	70592819	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:70592819C>T	ENST00000310613.3	-	8	1175	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	293					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AATCTCTGTGCGGAATTGAAG	0.393																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(877-879)cGc>cAc		sulfotransferase family, cytosolic, 1B, member 1							83.0	82.0	82.0					4																	70592819		2202	4298	6500	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70592819C>T	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.878G>A	4.37:g.70592819C>T	ENSP00000308770:p.Arg293His						p.R293H	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			8	1175	-			293					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.878G>A	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	C	5.703	0.314321	0.10789	.	.	ENSG00000173597	ENST00000310613	T	0.01838	4.61	4.85	1.2	0.21068	.	0.417833	0.19734	N	0.107289	T	0.02267	0.0070	L	0.54965	1.715	0.09310	N	0.999998	P	0.51537	0.946	B	0.37387	0.248	T	0.50750	-0.8791	10	0.22109	T	0.4	.	9.3232	0.37977	0.0:0.7051:0.0:0.2949	.	293	O43704	ST1B1_HUMAN	H	293	ENSP00000308770:R293H	ENSP00000308770:R293H	R	-	2	0	SULT1B1	70627408	0.897000	0.30589	0.000000	0.03702	0.010000	0.07245	2.188000	0.42612	0.062000	0.16340	-0.471000	0.05019	CGC		0.393	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		4	81	0	0	0	1	0	4	81				
PDC	5132	broad.mit.edu	37	1	186415580	186415580	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:186415580G>A	ENST00000391997.2	-	3	278	c.191C>T	c.(190-192)tCa>tTa	p.S64L	PDC_ENST00000456239.2_Missense_Mutation_p.S12L|PDC_ENST00000497198.1_Missense_Mutation_p.S12L|PDC_ENST00000340129.5_Missense_Mutation_p.S64L	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	64					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCGTTCCTTTGAATCTTTGCC	0.338																																						ENST00000391997.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(190-192)tCa>tTa		phosducin							135.0	130.0	132.0					1																	186415580		2203	4300	6503	SO:0001583	missense	5132				G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	g.chr1:186415580G>A	AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.191C>T	1.37:g.186415580G>A	ENSP00000375855:p.Ser64Leu					PDC_ENST00000497198.1_Missense_Mutation_p.S12L|PDC_ENST00000456239.2_Missense_Mutation_p.S12L|PDC_ENST00000340129.5_Missense_Mutation_p.S64L	p.S64L	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)	3	278	-		Breast(1374;1.53e-05)	64					Q14816|Q9UP22|Q9UP23	Missense_Mutation	SNP	ENST00000391997.2	37	c.191C>T	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123089	0.37436	.	.	ENSG00000116703	ENST00000391997;ENST00000497198;ENST00000456239;ENST00000340129	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.36	5.36	0.76844	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	0.595385	0.17558	N	0.169934	T	0.11623	0.0283	N	0.10874	0.06	0.50313	D	0.999868	B	0.26775	0.159	B	0.24701	0.055	T	0.26326	-1.0106	10	0.21014	T	0.42	-39.6172	19.0908	0.93225	0.0:0.0:1.0:0.0	.	64	P20941	PHOS_HUMAN	L	64;12;12;64	ENSP00000375855:S64L;ENSP00000422775:S12L;ENSP00000411564:S12L;ENSP00000342033:S64L	ENSP00000342033:S64L	S	-	2	0	PDC	184682203	1.000000	0.71417	0.584000	0.28653	0.166000	0.22503	6.988000	0.76212	2.498000	0.84270	0.591000	0.81541	TCA		0.338	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577		14	96	0	0	0	1	0	14	96				
MTUS2	23281	broad.mit.edu	37	13	29608253	29608253	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr13:29608253G>T	ENST00000431530.3	+	2	2525	c.2467G>T	c.(2467-2469)Gat>Tat	p.D823Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	813	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTACAGTTCCGATCCTTCAGG	0.458																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2467-2469)Gat>Tat		microtubule associated tumor suppressor candidate 2							102.0	105.0	104.0					13																	29608253		2100	4213	6313	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608253G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2467G>T	13.37:g.29608253G>T	ENSP00000392057:p.Asp823Tyr						p.D823Y	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			2	2525	+			813			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2467G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592964	0.66219	.	.	ENSG00000132938	ENST00000431530	T	0.23754	1.89	5.27	5.27	0.74061	.	0.398317	0.23026	N	0.052792	T	0.49745	0.1575	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.37430	-0.9706	9	.	.	.	.	18.2493	0.89997	0.0:0.0:1.0:0.0	.	813	Q5JR59	MTUS2_HUMAN	Y	823	ENSP00000392057:D823Y	.	D	+	1	0	MTUS2	28506253	1.000000	0.71417	0.112000	0.21494	0.116000	0.19942	6.929000	0.75852	2.614000	0.88457	0.655000	0.94253	GAT		0.458	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		36	163	1	0	6.3237e-29	1	7.15989e-29	36	163				
ERCC2	2068	broad.mit.edu	37	19	45857991	45857991	+	Silent	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:45857991C>T	ENST00000391945.4	-	17	1739	c.1662G>A	c.(1660-1662)gaG>gaA	p.E554E	ERCC2_ENST00000391944.3_Silent_p.E476E	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	554	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCGTACCTGCTCATACCAGG	0.602			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1660-1662)gaG>gaA	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							128.0	102.0	111.0					19																	45857991		2203	4300	6503	SO:0001819	synonymous_variant	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45857991C>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1662G>A	19.37:g.45857991C>T						ERCC2_ENST00000391944.3_Silent_p.E476E	p.E554E	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	17	1739	-		Ovarian(192;0.0728)|all_neural(266;0.112)	554			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	c.1662G>A	CCDS33049.1																																																																																				0.602	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		116	470	0	0	0	1	0	116	470				
SLC20A2	6575	broad.mit.edu	37	8	42317465	42317465	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr8:42317465C>T	ENST00000342228.3	-	5	931	c.562G>A	c.(562-564)Gct>Act	p.A188T	SLC20A2_ENST00000520179.1_Missense_Mutation_p.A188T|SLC20A2_ENST00000520262.1_Missense_Mutation_p.A188T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	188					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATGGTAGCAGCATAGAATACT	0.502																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(562-564)Gct>Act		solute carrier family 20 (phosphate transporter), member 2							108.0	91.0	96.0					8																	42317465		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42317465C>T		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.562G>A	8.37:g.42317465C>T	ENSP00000340465:p.Ala188Thr					SLC20A2_ENST00000520262.1_Missense_Mutation_p.A188T|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A188T	p.A188T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	931	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	188						Missense_Mutation	SNP	ENST00000342228.3	37	c.562G>A	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358206	0.95854	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.91521	-2.86;-2.86;-2.86	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	L	0.46741	1.465	0.80722	D	1	D	0.56287	0.975	D	0.69142	0.962	D	0.90790	0.4686	10	0.26408	T	0.33	-21.8667	17.9231	0.88973	0.0:1.0:0.0:0.0	.	188	Q08357	S20A2_HUMAN	T	188	ENSP00000340465:A188T;ENSP00000429754:A188T;ENSP00000429712:A188T	ENSP00000340465:A188T	A	-	1	0	SLC20A2	42436622	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.814000	0.86154	2.833000	0.97629	0.655000	0.94253	GCT		0.502	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			15	91	0	0	0	1	0	15	91				
SYDE2	84144	broad.mit.edu	37	1	85648743	85648743	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:85648743T>C	ENST00000341460.5	-	3	1631	c.1582A>G	c.(1582-1584)Aaa>Gaa	p.K528E		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	528					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATGGAAAGTTTCCTCACAGTT	0.353																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1582-1584)Aaa>Gaa		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							149.0	153.0	152.0					1																	85648743		1822	4080	5902	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85648743T>C	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1582A>G	1.37:g.85648743T>C	ENSP00000340594:p.Lys528Glu						p.K528E	NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	1631	-			528					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1582A>G	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041908	0.75732	.	.	ENSG00000097096	ENST00000341460	T	0.13420	2.59	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	M	0.78916	2.43	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	D;D	0.75484	0.965;0.986	T	0.06588	-1.0818	10	0.56958	D	0.05	.	15.4204	0.75006	0.0:0.0:0.0:1.0	.	528;528	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	E	528	ENSP00000340594:K528E	ENSP00000340594:K528E	K	-	1	0	SYDE2	85421331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.695000	0.84257	2.065000	0.61736	0.524000	0.50904	AAA		0.353	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			15	100	0	0	0	1	0	15	100				
PLG	5340	broad.mit.edu	37	6	161152232	161152232	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:161152232T>C	ENST00000308192.9	+	11	1469	c.1406T>C	c.(1405-1407)cTg>cCg	p.L469P		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	469					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTGTTGTCCTGCTTCCAGAT	0.498																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1405-1407)cTg>cCg		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						101.0	92.0	95.0					6																	161152232		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161152232T>C	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1406T>C	6.37:g.161152232T>C	ENSP00000308938:p.Leu469Pro						p.L469P	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	11	1469	+			469					Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1406T>C	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775779	0.31411	.	.	ENSG00000122194	ENST00000308192	T	0.63417	-0.04	4.5	2.02	0.26589	Kringle-like fold (1);	0.563165	0.13282	U	0.399663	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	10	0.26408	T	0.33	.	0.8475	0.01165	0.4782:0.2073:0.1149:0.1995	.	469	P00747	PLMN_HUMAN	P	469	ENSP00000308938:L469P	ENSP00000308938:L469P	L	+	2	0	PLG	161072222	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.108000	0.10857	0.238000	0.21222	-0.364000	0.07487	CTG		0.498	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		43	214	0	0	0	1	0	43	214				
SLC52A2	79581	broad.mit.edu	37	8	145583069	145583069	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr8:145583069A>G	ENST00000532887.1	+	2	699	c.116A>G	c.(115-117)aAa>aGa	p.K39R	SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	39					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GTGGTGGTCAAAGAGCTTCCA	0.647																																						ENST00000532887.1																			0											c.(115-117)aAa>aGa		solute carrier family 52 (riboflavin transporter), member 2							98.0	89.0	92.0					8																	145583069		2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583069A>G	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.116A>G	8.37:g.145583069A>G	ENSP00000436768:p.Lys39Arg					SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R	p.K39R			Q9HAB3	RFT3_HUMAN			2	699	+			39					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.116A>G	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008546	0.54361	.	.	ENSG00000185803	ENST00000524541;ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000534725;ENST00000532887;ENST00000329994;ENST00000526752	T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.12	1.72	0.24424	.	0.177750	0.48767	D	0.000176	T	0.79639	0.4480	M	0.72118	2.19	0.52501	D	0.99995	D	0.69078	0.997	D	0.75020	0.985	T	0.74509	-0.3642	10	0.19147	T	0.46	.	6.2933	0.21071	0.7763:0.0:0.2237:0.0	.	39	Q9HAB3	RFT3_HUMAN	R	39	ENSP00000434239:K39R;ENSP00000435820:K39R;ENSP00000434728:K39R;ENSP00000433583:K39R;ENSP00000385961:K39R;ENSP00000431965:K39R;ENSP00000436768:K39R;ENSP00000333638:K39R;ENSP00000433796:K39R	ENSP00000333638:K39R	K	+	2	0	GPR172A	145553877	0.709000	0.27886	0.942000	0.38095	0.876000	0.50452	2.512000	0.45485	0.459000	0.27016	0.334000	0.21626	AAA		0.647	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		2	4	0	0	0	1	0	2	4				
POLR2A	5430	broad.mit.edu	37	17	7417116	7417116	+	Missense_Mutation	SNP	T	T	C	rs564268404		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:7417116T>C	ENST00000322644.6	+	29	5932	c.5533T>C	c.(5533-5535)Tct>Cct	p.S1845P		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1845	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AACCAGTCCTTCTTACAGTCC	0.572													T|||	1	0.000199681	0.0	0.0	5008	,	,		16315	0.0		0.0	False		,,,				2504	0.001					ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5533-5535)Tct>Cct		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							237.0	230.0	233.0					17																	7417116		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7417116T>C			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5533T>C	17.37:g.7417116T>C	ENSP00000314949:p.Ser1845Pro						p.S1845P	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			29	5932	+		Prostate(122;0.173)	1845			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.5533T>C	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.277776	0.40294	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.71579	-0.58	3.94	2.84	0.33178	.	0.305275	0.19908	U	0.103359	T	0.76933	0.4057	M	0.84683	2.71	0.80722	D	1	P	0.43826	0.818	P	0.50314	0.637	T	0.72587	-0.4248	10	0.27082	T	0.32	.	8.7695	0.34724	0.1695:0.0:0.0:0.8305	.	1845	P24928	RPB1_HUMAN	P	1801;1845	ENSP00000314949:S1845P	ENSP00000314949:S1845P	S	+	1	0	SLC35G6	7357840	0.010000	0.17322	0.982000	0.44146	0.840000	0.47671	1.368000	0.34216	0.566000	0.29273	0.248000	0.18094	TCT		0.572	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		37	156	0	0	0	1	0	37	156				
SLC38A11	151258	broad.mit.edu	37	2	165796068	165796068	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:165796068T>A	ENST00000409149.3	-	5	554		c.e5-2		SLC38A11_ENST00000409662.1_Splice_Site|SLC38A11_ENST00000493887.1_5'Flank|SLC38A11_ENST00000303735.4_Splice_Site|SLC38A11_ENST00000409058.1_Splice_Site	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CAGGATCAACTAAAACACAAT	0.313																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.e4-2		solute carrier family 38, member 11							78.0	75.0	76.0					2																	165796068		2203	4300	6503	SO:0001630	splice_region_variant	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165796068T>A		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.263-2A>T	2.37:g.165796068T>A						SLC38A11_ENST00000409662.1_Splice_Site|SLC38A11_ENST00000409058.1_Splice_Site|SLC38A11_ENST00000409149.3_Splice_Site		NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			4	527	-								B4DF99|Q8N887	Splice_Site	SNP	ENST00000409149.3	37		CCDS56142.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787104	0.49997	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.787	0.63117	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC38A11	165504314	1.000000	0.71417	0.983000	0.44433	0.520000	0.34377	6.977000	0.76141	2.230000	0.72887	0.533000	0.62120	.		0.313	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512	Intron	3	30	0	0	0	1	0	3	30				
ZCCHC9	84240	broad.mit.edu	37	5	80600750	80600750	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:80600750T>A	ENST00000254037.2	+	1	3329	c.174T>A	c.(172-174)caT>caA	p.H58Q	ZCCHC9_ENST00000438268.2_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.H58Q			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	58	Poly-Lys.				negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AAGCAAAACATAAAAAGAACA	0.373																																						ENST00000254037.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13						c.(172-174)caT>caA		zinc finger, CCHC domain containing 9							73.0	74.0	74.0					5																	80600750		2203	4300	6503	SO:0001583	missense	84240						nucleic acid binding|zinc ion binding	g.chr5:80600750T>A	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.174T>A	5.37:g.80600750T>A	ENSP00000254037:p.His58Gln					ZCCHC9_ENST00000407610.3_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.H58Q|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.H58Q	p.H58Q			Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	1	3329	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	58			Poly-Lys.		B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	c.174T>A	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.367145	0.24771	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.13	-0.957	0.10350	.	0.419800	0.28268	N	0.015978	T	0.19725	0.0474	N	0.14661	0.345	0.19575	N	0.999964	B	0.06786	0.001	B	0.04013	0.001	T	0.19484	-1.0304	10	0.18710	T	0.47	-2.8538	8.0593	0.30623	0.0:0.4515:0.4363:0.1122	.	58	Q8N567	ZCHC9_HUMAN	Q	58	ENSP00000254037:H58Q;ENSP00000385047:H58Q;ENSP00000369546:H58Q;ENSP00000412637:H58Q	ENSP00000254037:H58Q	H	+	3	2	ZCCHC9	80636506	0.982000	0.34865	0.971000	0.41717	0.976000	0.68499	0.113000	0.15499	-0.176000	0.10707	-0.316000	0.08728	CAT		0.373	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		5	86	0	0	0	1	0	5	86				
ZNHIT6	54680	broad.mit.edu	37	1	86173901	86173901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:86173901G>A	ENST00000370574.3	-	1	200	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R23W			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	23					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GGACTTAGCCGCACCCCCTCA	0.602																																						ENST00000431532.2																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(67-69)Cgg>Tgg		zinc finger, HIT-type containing 6							82.0	82.0	82.0					1																	86173901		2203	4300	6503	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86173901G>A	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.67C>T	1.37:g.86173901G>A	ENSP00000359606:p.Arg23Trp					ZNHIT6_ENST00000370574.3_Missense_Mutation_p.R23W	p.R23W	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN			1	215	-			23					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.67C>T	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839136	0.71373	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.61627	0.09;0.43	4.1	3.1	0.35709	.	0.230767	0.22540	N	0.058737	T	0.41994	0.1183	L	0.27053	0.805	0.29331	N	0.866714	D;D	0.76494	0.999;0.999	P;P	0.55999	0.789;0.789	T	0.29243	-1.0018	10	0.87932	D	0	-2.746	9.1753	0.37107	0.0:0.2231:0.7769:0.0	.	23;23	B4DP13;Q9NWK9	.;BCD1_HUMAN	W	23	ENSP00000414344:R23W;ENSP00000359606:R23W	ENSP00000359606:R23W	R	-	1	2	ZNHIT6	85946489	0.366000	0.25014	0.983000	0.44433	0.054000	0.15201	0.552000	0.23376	2.295000	0.77249	0.453000	0.30009	CGG		0.602	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		4	129	0	0	0	1	0	4	129				
FXR2	9513	broad.mit.edu	37	17	7496341	7496341	+	Missense_Mutation	SNP	G	G	A	rs527575662		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:7496341G>A	ENST00000250113.7	-	13	1823	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000538513.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	497						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)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAAGTGGGCCGGGGGGCAGGT	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13599	0.0		0.0	False		,,,				2504	0.0					ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1489-1491)Cgg>Tgg		fragile X mental retardation, autosomal homolog 2							29.0	31.0	31.0					17																	7496341		1822	4064	5886	SO:0001583	missense	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496341G>A	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.1489C>T	17.37:g.7496341G>A	ENSP00000250113:p.Arg497Trp						p.R497W	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	13	1823	-			497					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	c.1489C>T	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440230	0.63067	.	.	ENSG00000129245	ENST00000250113	T	0.46451	0.87	5.63	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.31358	0.0794	N	0.22421	0.69	0.42876	D	0.994153	B	0.18968	0.032	B	0.13407	0.009	T	0.12553	-1.0543	10	0.72032	D	0.01	-0.1109	13.8984	0.63787	0.0:0.0:0.8465:0.1535	.	497	P51116	FXR2_HUMAN	W	497	ENSP00000250113:R497W	ENSP00000250113:R497W	R	-	1	2	FXR2	7437066	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.341000	0.33907	1.474000	0.48178	0.655000	0.94253	CGG		0.617	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			3	85	0	0	0	1	0	3	85				
ANGPTL4	51129	broad.mit.edu	37	19	8429515	8429515	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:8429515A>T	ENST00000301455.2	+	1	481	c.310A>T	c.(310-312)Agc>Tgc	p.S104C	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.S104C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	104					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GGTCCTTCACAGCCTGCAGGT	0.706																																						ENST00000301455.2																			0				large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						c.(310-312)Agc>Tgc		angiopoietin-like 4							13.0	11.0	12.0					19																	8429515		2149	4167	6316	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8429515A>T	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.310A>T	19.37:g.8429515A>T	ENSP00000301455:p.Ser104Cys					ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.S104C	p.S104C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN			1	481	+			104					A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.310A>T	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.390030	0.42410	.	.	ENSG00000167772	ENST00000301455;ENST00000393962	T;T	0.42900	0.96;0.96	3.5	1.42	0.22433	.	7739.210000	0.00166	N	0.000000	T	0.35278	0.0926	L	0.32530	0.975	0.80722	D	1	B;B	0.18741	0.03;0.03	B;B	0.12156	0.007;0.007	T	0.20107	-1.0285	10	0.62326	D	0.03	.	6.509	0.22212	0.7916:0.0:0.2084:0.0	.	104;104	A8MY84;Q9BY76	.;ANGL4_HUMAN	C	104	ENSP00000301455:S104C;ENSP00000377534:S104C	ENSP00000301455:S104C	S	+	1	0	ANGPTL4	8335515	0.849000	0.29639	0.118000	0.21660	0.183000	0.23260	1.413000	0.34725	0.247000	0.21414	0.398000	0.26397	AGC		0.706	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		6	20	0	0	0	1	0	6	20				
OR2J3	442186	broad.mit.edu	37	6	29079901	29079901	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:29079901C>G	ENST00000377169.1	+	1	234	c.234C>G	c.(232-234)acC>acG	p.T78T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCTACACCACCAGCTCTATCC	0.473																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(232-234)acC>acG		olfactory receptor, family 2, subfamily J, member 3							205.0	210.0	209.0					6																	29079901		1287	2612	3899	SO:0001819	synonymous_variant	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079901C>G		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.234C>G	6.37:g.29079901C>G							p.T78T	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	234	+			78					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	c.234C>G	CCDS43433.1																																																																																				0.473	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			64	486	0	0	0	1	0	64	486				
PI4K2B	55300	broad.mit.edu	37	4	25258214	25258214	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:25258214C>T	ENST00000264864.6	+	4	863	c.674C>T	c.(673-675)gCa>gTa	p.A225V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.A129V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	225	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				ATTGACCGTGCAAAATCAAGA	0.363																																						ENST00000264864.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15						c.(673-675)gCa>gTa		phosphatidylinositol 4-kinase type 2 beta							119.0	118.0	118.0					4																	25258214		2203	4300	6503	SO:0001583	missense	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25258214C>T	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.674C>T	4.37:g.25258214C>T	ENSP00000264864:p.Ala225Val					PI4K2B_ENST00000512921.1_Missense_Mutation_p.A129V	p.A225V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN			4	863	+		Breast(46;0.173)	225			PI3K/PI4K.		Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	c.674C>T	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164878	0.57476	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	T;T	0.74632	-0.86;-0.86	6.07	6.07	0.98685	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.81044	0.4741	M	0.82323	2.585	0.80722	D	1	P	0.39022	0.655	B	0.43018	0.405	T	0.77360	-0.2617	10	0.23302	T	0.38	-16.8072	20.6593	0.99626	0.0:1.0:0.0:0.0	.	225	Q8TCG2	P4K2B_HUMAN	V	129;225;194	ENSP00000423373:A129V;ENSP00000264864:A225V	ENSP00000264864:A225V	A	+	2	0	PI4K2B	24867312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.188000	0.50958	2.885000	0.99019	0.655000	0.94253	GCA		0.363	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		29	85	0	0	0	1	0	29	85				
GALNT18	374378	broad.mit.edu	37	11	11470318	11470318	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:11470318C>A	ENST00000227756.4	-	2	812	c.401G>T	c.(400-402)cGg>cTg	p.R134L		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	134					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGGCAGGGGCCGGTCCAGGGG	0.662																																						ENST00000227756.4																			0											c.(400-402)cGg>cTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							26.0	25.0	25.0					11																	11470318		2183	4270	6453	SO:0001583	missense	374378							g.chr11:11470318C>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.401G>T	11.37:g.11470318C>A	ENSP00000227756:p.Arg134Leu						p.R134L	NM_198516.2	NP_940918.2					2	812	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.401G>T	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654708	0.88056	.	.	ENSG00000110328	ENST00000227756	T	0.68903	-0.36	5.66	4.75	0.60458	.	0.064020	0.64402	D	0.000018	T	0.69842	0.3156	M	0.87971	2.92	0.58432	D	0.999998	P	0.43024	0.798	B	0.37692	0.256	T	0.76526	-0.2927	10	0.87932	D	0	.	13.1866	0.59684	0.0:0.923:0.0:0.077	.	134	Q6P9A2	GLTL4_HUMAN	L	134	ENSP00000227756:R134L	ENSP00000227756:R134L	R	-	2	0	GALNTL4	11426894	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.071000	0.76770	1.397000	0.46682	0.561000	0.74099	CGG		0.662	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		12	43	1	0	6.31663e-08	1	6.86808e-08	12	43				
TNKS1BP1	85456	broad.mit.edu	37	11	57077445	57077445	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:57077445G>A	ENST00000532437.1	-	5	3051	c.2740C>T	c.(2740-2742)Cac>Tac	p.H914Y	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.H914Y			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	914	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTACCATGGTGGTCCCTCTTC	0.572																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2740-2742)Cac>Tac		tankyrase 1 binding protein 1, 182kDa							190.0	184.0	186.0					11																	57077445		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077445G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2740C>T	11.37:g.57077445G>A	ENSP00000437271:p.His914Tyr					TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.H914Y	p.H914Y			Q9C0C2	TB182_HUMAN			5	3051	-		all_epithelial(135;0.21)	914			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2740C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.651342	0.00785	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30448	1.53;1.53	5.17	3.22	0.36961	.	1.395550	0.04569	N	0.392900	T	0.19046	0.0457	N	0.22421	0.69	0.09310	N	1	B	0.33135	0.399	B	0.31686	0.134	T	0.11891	-1.0569	10	0.02654	T	1	0.1175	8.2807	0.31898	0.0859:0.0:0.7561:0.158	.	914	Q9C0C2	TB182_HUMAN	Y	914	ENSP00000350990:H914Y;ENSP00000437271:H914Y	ENSP00000350990:H914Y	H	-	1	0	TNKS1BP1	56834021	0.000000	0.05858	0.042000	0.18584	0.114000	0.19823	0.786000	0.26844	1.286000	0.44565	0.462000	0.41574	CAC		0.572	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		101	460	0	0	0	1	0	101	460				
LRBA	987	broad.mit.edu	37	4	151511932	151511932	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:151511932C>A	ENST00000357115.3	-	40	6402	c.6159G>T	c.(6157-6159)gaG>gaT	p.E2053D	LRBA_ENST00000510413.1_Missense_Mutation_p.E2042D|LRBA_ENST00000535741.1_Missense_Mutation_p.E2042D|LRBA_ENST00000507224.1_Missense_Mutation_p.E2042D	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2053						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCAGGAGGATCTCGTTTTCTG	0.413																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(6124-6126)gaG>gaT		LPS-responsive vesicle trafficking, beach and anchor containing							121.0	105.0	110.0					4																	151511932		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151511932C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6159G>T	4.37:g.151511932C>A	ENSP00000349629:p.Glu2053Asp					LRBA_ENST00000357115.3_Missense_Mutation_p.E2053D|LRBA_ENST00000510413.1_Missense_Mutation_p.E2042D|LRBA_ENST00000507224.1_Missense_Mutation_p.E2042D	p.E2042D			P50851	LRBA_HUMAN			39	6599	-	all_hematologic(180;0.151)		2053					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6126G>T	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.862507|2.862507	0.51482|0.51482	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.47869|.	0.83;0.83;0.83;0.83|.	5.94|5.94	5.1|5.1	0.69264|0.69264	Domain of unknown function DUF1088 (1);|.	0.254929|.	0.39544|.	N|.	0.001334|.	T|T	0.54983|0.54983	0.1892|0.1892	L|L	0.41027|0.41027	1.25|1.25	0.54753|0.54753	D|D	0.999987|0.999987	B;B|.	0.25048|.	0.117;0.03|.	B;B|.	0.25884|.	0.064;0.028|.	T|T	0.49093|0.49093	-0.8975|-0.8975	10|5	0.22109|.	T|.	0.4|.	.|.	9.4796|9.4796	0.38893|0.38893	0.1434:0.7854:0.0:0.0712|0.1434:0.7854:0.0:0.0712	.|.	2053;2042|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	D|I	2042;2042;2053;2042|695	ENSP00000446299:E2042D;ENSP00000421552:E2042D;ENSP00000349629:E2053D;ENSP00000422180:E2042D|.	ENSP00000349629:E2053D|.	E|R	-|-	3|2	2|0	LRBA|LRBA	151731382|151731382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	2.356000|2.356000	0.44116|0.44116	2.817000|2.817000	0.96982|0.96982	0.557000|0.557000	0.71058|0.71058	GAG|AGA		0.413	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			34	120	1	0	2.87052e-16	1	3.17146e-16	34	120				
MYO1A	4640	broad.mit.edu	37	12	57437906	57437906	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:57437906C>T	ENST00000442789.2	-	10	1015	c.728G>A	c.(727-729)aGc>aAc	p.S243N	MYO1A_ENST00000300119.3_Missense_Mutation_p.S243N|MYO1A_ENST00000544473.1_Missense_Mutation_p.S81N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	243	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGCCCTGAAGCTGGAGGCGTC	0.562																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(727-729)aGc>aAc		myosin IA							100.0	90.0	94.0					12																	57437906		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57437906C>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.728G>A	12.37:g.57437906C>T	ENSP00000393392:p.Ser243Asn					MYO1A_ENST00000544473.1_Missense_Mutation_p.S81N|MYO1A_ENST00000300119.3_Missense_Mutation_p.S243N	p.S243N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			10	1015	-			243			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.728G>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	2.469	-0.322236	0.05350	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.71103	-0.54;-0.54;-0.54	4.81	2.5	0.30297	Myosin head, motor domain (2);	0.099755	0.64402	N	0.000003	T	0.35537	0.0935	N	0.02865	-0.47	0.25449	N	0.988025	B	0.02656	0.0	B	0.04013	0.001	T	0.33085	-0.9882	10	0.02654	T	1	.	5.3982	0.16281	0.0:0.2499:0.0:0.7501	.	243	Q9UBC5	MYO1A_HUMAN	N	243;243;81	ENSP00000300119:S243N;ENSP00000393392:S243N;ENSP00000440514:S81N	ENSP00000300119:S243N	S	-	2	0	MYO1A	55724173	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	3.489000	0.53237	0.446000	0.26666	0.563000	0.77884	AGC		0.562	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		29	127	0	0	0	1	0	29	127				
SERPING1	710	broad.mit.edu	37	11	57373959	57373959	+	Missense_Mutation	SNP	C	C	G	rs61761890	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:57373959C>G	ENST00000278407.4	+	6	1195	c.968C>G	c.(967-969)cCc>cGc	p.P323R	SERPING1_ENST00000340687.6_Missense_Mutation_p.P323R|SERPING1_ENST00000378324.2_Missense_Mutation_p.P271R|SERPING1_ENST00000378323.4_Missense_Mutation_p.P328R|SERPING1_ENST00000403558.1_Missense_Mutation_p.P366R	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	323					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ATAAAAGTGCCCATGATGAAT	0.428																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(1096-1098)cCc>cGc		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							159.0	153.0	155.0					11																	57373959		2201	4296	6497	SO:0001583	missense	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57373959C>G	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.968C>G	11.37:g.57373959C>G	ENSP00000278407:p.Pro323Arg					SERPING1_ENST00000378323.4_Missense_Mutation_p.P328R|SERPING1_ENST00000340687.6_Missense_Mutation_p.P323R|SERPING1_ENST00000278407.4_Missense_Mutation_p.P323R|SERPING1_ENST00000378324.2_Missense_Mutation_p.P271R	p.P366R	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			5	1463	+			323					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	c.1097C>G	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158135	0.57368	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.49	0.471	0.16752	Serpin domain (3);	0.848145	0.10481	N	0.669631	D	0.92202	0.7527	M	0.69358	2.11	0.29260	N	0.871368	P;D;P;P	0.56968	0.869;0.978;0.869;0.869	P;P;P;P	0.58013	0.557;0.831;0.557;0.557	D	0.84894	0.0838	10	0.51188	T	0.08	.	8.6538	0.34051	0.0:0.6126:0.0:0.3874	.	328;366;323;323	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	R	323;323;328;271;366	ENSP00000278407:P323R;ENSP00000341861:P323R;ENSP00000367574:P328R;ENSP00000367575:P271R;ENSP00000384420:P366R	ENSP00000278407:P323R	P	+	2	0	SERPING1	57130535	0.029000	0.19370	0.964000	0.40570	0.885000	0.51271	-0.493000	0.06459	0.045000	0.15804	-0.137000	0.14449	CCC		0.428	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		87	264	0	0	0	1	0	87	264				
DNAH2	146754	broad.mit.edu	37	17	7630455	7630455	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:7630455T>C	ENST00000572933.1	+	4	1704	c.244T>C	c.(244-246)Tcc>Ccc	p.S82P	DNAH2_ENST00000389173.2_Missense_Mutation_p.S82P|DNAH2_ENST00000570791.1_Missense_Mutation_p.S82P|DNAH2_ENST00000082259.3_Missense_Mutation_p.S82P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	82	Stem. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTCTTCCTTTCCCGAGCTGC	0.537																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(244-246)Tcc>Ccc		dynein, axonemal, heavy chain 2							120.0	99.0	106.0					17																	7630455		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7630455T>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.244T>C	17.37:g.7630455T>C	ENSP00000458355:p.Ser82Pro					DNAH2_ENST00000570791.1_Missense_Mutation_p.S82P|DNAH2_ENST00000082259.3_Missense_Mutation_p.S82P|DNAH2_ENST00000389173.2_Missense_Mutation_p.S82P	p.S82P			Q9P225	DYH2_HUMAN			4	1704	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	82			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.244T>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098754	0.56183	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.56611	0.45;0.45	4.38	0.467	0.16721	.	10.506500	0.00481	N	0.000123	T	0.48960	0.1529	N	0.08118	0	0.09310	N	1	B;D	0.67145	0.09;0.996	B;P	0.62014	0.042;0.897	T	0.47947	-0.9077	10	0.31617	T	0.26	.	6.5132	0.22234	0.1575:0.0:0.4862:0.3563	.	82;82	Q9P225;Q9P225-3	DYH2_HUMAN;.	P	82	ENSP00000373825:S82P;ENSP00000082259:S82P	ENSP00000082259:S82P	S	+	1	0	DNAH2	7571180	0.276000	0.24211	0.374000	0.26016	0.968000	0.65278	0.108000	0.15396	0.272000	0.22027	0.482000	0.46254	TCC		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		26	127	0	0	0	1	0	26	127				
KDM5A	5927	broad.mit.edu	37	12	416901	416901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:416901G>A	ENST00000399788.2	-	23	4011	c.3649C>T	c.(3649-3651)Cgg>Tgg	p.R1217W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1217W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1217					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R1217W(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTCGAGACCGCATACAAAGA	0.483			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Missense(2)	p.R1217W(2)	lung(2)	NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3649-3651)Cgg>Tgg		lysine (K)-specific demethylase 5A							86.0	85.0	85.0					12																	416901		1895	4097	5992	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416901G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3649C>T	12.37:g.416901G>A	ENSP00000382688:p.Arg1217Trp					KDM5A_ENST00000382815.4_Missense_Mutation_p.R1217W	p.R1217W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	4011	-			1217					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3649C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905771	0.72868	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	T;T	0.01159	5.25;5.25	5.66	3.6	0.41247	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.09818	0.0241	M	0.92367	3.3	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01266	-1.1401	10	0.87932	D	0	-15.1453	14.4592	0.67438	0.0:0.0:0.6721:0.3278	.	1217;1217	P29375;P29375-2	KDM5A_HUMAN;.	W	1217	ENSP00000382688:R1217W;ENSP00000372265:R1217W	ENSP00000372265:R1217W	R	-	1	2	KDM5A	287162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.977000	0.63792	0.630000	0.30394	0.585000	0.79938	CGG		0.483	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		4	121	0	0	0	1	0	4	121				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	268	0	0	0	1	0	5	268				
ZBTB1	22890	broad.mit.edu	37	14	64988623	64988623	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr14:64988623A>T	ENST00000554015.1	+	4	832	c.401A>T	c.(400-402)cAg>cTg	p.Q134L	ZBTB1_ENST00000358738.3_Missense_Mutation_p.Q134L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.Q134L|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	134					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TCCAGCAAACAGAACAGCAAA	0.418																																						ENST00000358738.3																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(400-402)cAg>cTg		zinc finger and BTB domain containing 1							107.0	108.0	108.0					14																	64988623		2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64988623A>T	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.401A>T	14.37:g.64988623A>T	ENSP00000451000:p.Gln134Leu					ZBTB1_ENST00000554015.1_Missense_Mutation_p.Q134L|ZBTB1_ENST00000394712.2_Missense_Mutation_p.Q134L|RP11-973N13.4_ENST00000554918.1_RNA	p.Q134L	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	2	792	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	134					A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.401A>T	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.236555	0.22711	.	.	ENSG00000126804	ENST00000553583;ENST00000554015;ENST00000358738;ENST00000394712	T;T;T;T	0.59906	0.23;2.89;3.45;2.89	5.91	4.78	0.61160	.	0.342197	0.26567	N	0.023647	T	0.39200	0.1069	N	0.12182	0.205	0.38834	D	0.955913	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39210	-0.9625	10	0.72032	D	0.01	-8.0448	11.4297	0.50032	0.9304:0.0:0.0696:0.0	.	134;134	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	L	134	ENSP00000451584:Q134L;ENSP00000451000:Q134L;ENSP00000351587:Q134L;ENSP00000378201:Q134L	ENSP00000351587:Q134L	Q	+	2	0	ZBTB1	64058376	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.036000	0.57304	2.254000	0.74563	0.533000	0.62120	CAG		0.418	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			26	114	0	0	0	1	0	26	114				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	9	1	0	0.00909568	1	0.00936923	3	9				
DNAJA4	55466	broad.mit.edu	37	15	78572439	78572439	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:78572439C>G	ENST00000394852.3	+	6	1120	c.930C>G	c.(928-930)ccC>ccG	p.P310P	DNAJA4_ENST00000394855.3_Silent_p.P339P|DNAJA4_ENST00000343789.3_Silent_p.P310P|RP11-762H8.4_ENST00000558192.1_RNA|DNAJA4_ENST00000446172.2_Silent_p.P283P	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	310					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						AAGGAATGCCCATCTACAAAG	0.458																																						ENST00000394855.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(1015-1017)ccC>ccG		DnaJ (Hsp40) homolog, subfamily A, member 4							106.0	91.0	96.0					15																	78572439		2196	4293	6489	SO:0001819	synonymous_variant	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78572439C>G	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.930C>G	15.37:g.78572439C>G						DNAJA4_ENST00000446172.2_Silent_p.P283P|DNAJA4_ENST00000343789.3_Silent_p.P310P|DNAJA4_ENST00000394852.3_Silent_p.P310P	p.P339P	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN			7	1245	+			310					E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Silent	SNP	ENST00000394852.3	37	c.1017C>G	CCDS45316.1																																																																																				0.458	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		39	163	0	0	0	1	0	39	163				
ASTN1	460	broad.mit.edu	37	1	176993851	176993851	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:176993851G>A	ENST00000367654.3	-	6	1349	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	ASTN1_ENST00000361833.2_Missense_Mutation_p.P380S|ASTN1_ENST00000367657.3_Missense_Mutation_p.P380S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.P380S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	380					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTATTCACAGGACTTCGGGGA	0.493																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1138-1140)Cct>Tct		astrotactin 1							130.0	105.0	114.0					1																	176993851		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176993851G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1138C>T	1.37:g.176993851G>A	ENSP00000356626:p.Pro380Ser					ASTN1_ENST00000424564.2_Missense_Mutation_p.P380S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.P380S|ASTN1_ENST00000367657.3_Missense_Mutation_p.P380S	p.P380S			O14525	ASTN1_HUMAN			6	1151	-			380					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1138C>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.254275	0.80135	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.20463	2.07;2.48;2.46;2.08	5.27	4.36	0.52297	.	0.052212	0.85682	N	0.000000	T	0.19967	0.0480	L	0.34521	1.04	0.80722	D	1	B;B;B	0.26602	0.154;0.035;0.035	B;B;B	0.31751	0.135;0.019;0.034	T	0.04930	-1.0917	10	0.87932	D	0	-15.1469	13.2884	0.60255	0.077:0.0:0.923:0.0	.	380;380;380	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	380	ENSP00000356629:P380S;ENSP00000354536:P380S;ENSP00000356626:P380S;ENSP00000395041:P380S	ENSP00000354536:P380S	P	-	1	0	ASTN1	175260474	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.291000	0.96070	1.217000	0.43442	0.655000	0.94253	CCT		0.493	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		39	184	0	0	0	1	0	39	184				
HBE1	3046	broad.mit.edu	37	11	5289815	5289815	+	Missense_Mutation	SNP	C	C	T	rs374123155		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:5289815C>T	ENST00000380237.1	-	5	672	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	HBE1_ENST00000292896.2_Missense_Mutation_p.V110M|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	110					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCACCATCACGTTACCCAGG	0.463																																						ENST00000380237.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(328-330)Gtg>Atg		hemoglobin, epsilon 1		C	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	173.0	156.0	162.0		328	5.2	0.6	11		162	0,8596		0,0,4298	no	missense	HBE1	NM_005330.3	21	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	110/148	5289815	1,12997	2201	4298	6499	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289815C>T	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.328G>A	11.37:g.5289815C>T	ENSP00000369586:p.Val110Met					HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.V110M|HBG2_ENST00000380259.2_Intron	p.V110M			P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	672	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	110					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.328G>A	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099913	0.37048	2.27E-4	0.0	ENSG00000213931	ENST00000380237;ENST00000292896	D;D	0.93426	-3.22;-3.22	6.06	5.15	0.70609	Globin-like (1);Globin, structural domain (1);	0.262249	0.30277	U	0.009983	D	0.89111	0.6622	L	0.46741	1.465	0.19945	N	0.999941	B	0.26577	0.153	B	0.26517	0.07	T	0.77915	-0.2409	10	0.24483	T	0.36	-15.6262	9.192	0.37204	0.0:0.8384:0.0:0.1616	.	110	P02100	HBE_HUMAN	M	110	ENSP00000369586:V110M;ENSP00000292896:V110M	ENSP00000292896:V110M	V	-	1	0	HBE1	5246391	0.029000	0.19370	0.640000	0.29408	0.788000	0.44548	0.267000	0.18552	1.582000	0.49881	0.655000	0.94253	GTG		0.463	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		7	801	0	0	0	1	0	7	801				
SUPT5H	6829	broad.mit.edu	37	19	39966943	39966943	+	Silent	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:39966943G>C	ENST00000599117.1	+	31	3535	c.3168G>C	c.(3166-3168)ctG>ctC	p.L1056L	SUPT5H_ENST00000598725.1_Silent_p.L1056L|SUPT5H_ENST00000359191.6_Silent_p.L1052L|SUPT5H_ENST00000402194.2_Silent_p.L1052L|SUPT5H_ENST00000432763.2_Silent_p.L1056L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	1056					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCGTCCTACTGAGCATTGATG	0.587																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(3166-3168)ctG>ctC		suppressor of Ty 5 homolog (S. cerevisiae)							120.0	97.0	105.0					19																	39966943		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39966943G>C	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.3168G>C	19.37:g.39966943G>C						SUPT5H_ENST00000359191.6_Silent_p.L1052L|SUPT5H_ENST00000432763.2_Silent_p.L1056L|SUPT5H_ENST00000598725.1_Silent_p.L1056L|SUPT5H_ENST00000402194.2_Silent_p.L1052L	p.L1056L			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		31	3535	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		1056					O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.3168G>C	CCDS12536.1																																																																																				0.587	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		4	459	0	0	0	1	0	4	459				
FBXL7	23194	broad.mit.edu	37	5	15928017	15928017	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:15928017G>A	ENST00000504595.1	+	3	627	c.146G>A	c.(145-147)cGc>cAc	p.R49H	FBXL7_ENST00000329673.7_Missense_Mutation_p.R37H|FBXL7_ENST00000510662.1_Missense_Mutation_p.R2H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	49					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R49H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTGAGCATGCGCACACTGAGC	0.572																																						ENST00000504595.1																			1	Substitution - Missense(1)	p.R49H(1)	prostate(1)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(145-147)cGc>cAc		F-box and leucine-rich repeat protein 7							89.0	97.0	94.0					5																	15928017		2084	4217	6301	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928017G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.146G>A	5.37:g.15928017G>A	ENSP00000423630:p.Arg49His					FBXL7_ENST00000329673.7_Missense_Mutation_p.R37H|FBXL7_ENST00000510662.1_Missense_Mutation_p.R2H	p.R49H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	627	+			49					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.146G>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514959	0.85389	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.12465	2.88;2.68;2.89	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.01666	-1.1300	10	0.35671	T	0.21	.	19.2506	0.93923	0.0:0.0:1.0:0.0	.	49	Q9UJT9	FBXL7_HUMAN	H	49;2;37	ENSP00000423630:R49H;ENSP00000425184:R2H;ENSP00000329632:R37H	ENSP00000329632:R37H	R	+	2	0	FBXL7	15981017	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.206000	0.95056	2.571000	0.86741	0.563000	0.77884	CGC		0.572	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		4	365	0	0	0	1	0	4	365				
MUC2	4583	broad.mit.edu	37	11	1087470	1087470	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:1087470C>A	ENST00000441003.2	+	24	3248	c.3221C>A	c.(3220-3222)gCc>gAc	p.A1074D	MUC2_ENST00000359061.5_Missense_Mutation_p.A1074D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1074					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TTCTACGAGGCCTGTGTGCAC	0.657																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3220-3222)gCc>gAc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						72.0	86.0	81.0					11																	1087470		2156	4249	6405	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1087470C>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3221C>A	11.37:g.1087470C>A	ENSP00000415183:p.Ala1074Asp					MUC2_ENST00000359061.5_Missense_Mutation_p.A1074D	p.A1074D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	24	3248	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1074					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3221C>A		.	.	.	.	.	.	.	.	.	.	c	14.44	2.537011	0.45176	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.77489	-1.1;-1.1	3.62	3.62	0.41486	.	0.359030	0.20301	U	0.095022	D	0.87289	0.6140	M	0.75264	2.295	0.25582	N	0.986785	D	0.76494	0.999	D	0.87578	0.998	T	0.80386	-0.1404	10	0.87932	D	0	.	15.867	0.79071	0.0:1.0:0.0:0.0	.	1074	E7EUV1	.	D	1074	ENSP00000415183:A1074D;ENSP00000351956:A1074D	ENSP00000351956:A1074D	A	+	2	0	MUC2	1077470	0.985000	0.35326	0.998000	0.56505	0.595000	0.36748	2.257000	0.43240	2.028000	0.59812	0.479000	0.44913	GCC		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	6	1	0	5.18039e-06	1	5.54464e-06	6	6				
MUC16	94025	broad.mit.edu	37	19	8997497	8997497	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:8997497G>C	ENST00000397910.4	-	59	41128	c.40925C>G	c.(40924-40926)aCc>aGc	p.T13642S	MUC16_ENST00000380951.5_Missense_Mutation_p.T283S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13644	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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						GTTGGTGATGGTGAAGTTGAG	0.527																																						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.(40924-40926)aCc>aGc		mucin 16, cell surface associated							165.0	133.0	143.0					19																	8997497		1972	4174	6146	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997497G>C	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.40925C>G	19.37:g.8997497G>C	ENSP00000381008:p.Thr13642Ser					MUC16_ENST00000380951.5_Missense_Mutation_p.T283S	p.T13642S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			59	41128	-			13644	Missing (in Ref. 3; AAK74120).		SEA 11.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40925C>G	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.66|11.66	1.703653|1.703653	0.30232|0.30232	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.50001	.|0.76;0.76	2.86|2.86	2.86|2.86	0.33363|0.33363	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.70046|0.70046	0.3179|0.3179	M|M	0.90483|0.90483	3.12|3.12	.|.	.|.	.|.	.|D;P	.|0.76494	.|0.999;0.917	.|D;D	.|0.81914	.|0.995;0.915	T|T	0.79045|0.79045	-0.1964|-0.1964	4|8	.|0.56958	.|D	.|0.05	-17.7139|-17.7139	9.4213|9.4213	0.38553|0.38553	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|21287;13642	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	A|S	482|13642;283	.|ENSP00000381008:T13642S;ENSP00000370338:T283S	.|ENSP00000370338:T283S	P|T	-|-	1|2	0|0	MUC16|MUC16	8858497|8858497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.159000|0.159000	0.22180|0.22180	3.244000|3.244000	0.51399|0.51399	1.909000|1.909000	0.55274|0.55274	0.555000|0.555000	0.69702|0.69702	CCA|ACC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		123	651	0	0	0	1	0	123	651				
IFIT1	3434	broad.mit.edu	37	10	91162071	91162071	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr10:91162071T>A	ENST00000371804.3	+	2	206	c.39T>A	c.(37-39)agT>agA	p.S13R	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_De_novo_Start_InFrame	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	13					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TCAAGGATAGTCTGGAGCAAT	0.353																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15								interferon-induced protein with tetratricopeptide repeats 1							124.0	115.0	118.0					10																	91162071		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162071T>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.39T>A	10.37:g.91162071T>A	ENSP00000360869:p.Ser13Arg					LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.S13R		NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			0	1233	+								B3KS50|D3DR31|Q5T7J1|Q96QM5	Translation_Start_Site	SNP	ENST00000371804.3	37		CCDS31243.1	.	.	.	.	.	.	.	.	.	.	T	9.492	1.100908	0.20552	.	.	ENSG00000185745	ENST00000371804	T	0.13901	2.55	5.02	-2.78	0.05859	.	0.764258	0.12047	N	0.504460	T	0.06188	0.0160	N	0.19112	0.55	0.44780	D	0.997789	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.40327	-0.9569	10	0.14656	T	0.56	.	5.3139	0.15845	0.0828:0.5106:0.1885:0.2182	.	13;13	Q5T7J1;P09914	.;IFIT1_HUMAN	R	13	ENSP00000360869:S13R	ENSP00000360869:S13R	S	+	3	2	IFIT1	91152051	0.001000	0.12720	0.002000	0.10522	0.083000	0.17756	-1.401000	0.02502	-0.339000	0.08401	-1.252000	0.01501	AGT		0.353	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		57	340	0	0	0	1	0	57	340				
BMP3	651	broad.mit.edu	37	4	81952663	81952663	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:81952663A>T	ENST00000282701.2	+	1	545	c.225A>T	c.(223-225)acA>acT	p.T75T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	75					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CGGCCCGGACACCGGGCTCCC	0.687																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(223-225)acA>acT		bone morphogenetic protein 3							17.0	20.0	19.0					4																	81952663		2200	4298	6498	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81952663A>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.225A>T	4.37:g.81952663A>T							p.T75T	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			1	545	+			75					Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.225A>T	CCDS3588.1																																																																																				0.687	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			10	38	0	0	0	1	0	10	38				
PDCD6IP	10015	broad.mit.edu	37	3	33887039	33887039	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:33887039A>T	ENST00000307296.3	+	12	1977	c.1600A>T	c.(1600-1602)Atc>Ttc	p.I534F	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.I539F			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	534	Interaction with EIAV p9.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GAATGCTGCCATCCCTTCTGC	0.468																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(1600-1602)Atc>Ttc		programmed cell death 6 interacting protein							111.0	91.0	98.0					3																	33887039		2203	4298	6501	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33887039A>T	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1600A>T	3.37:g.33887039A>T	ENSP00000307387:p.Ile534Phe					PDCD6IP_ENST00000457054.2_Missense_Mutation_p.I539F	p.I534F			Q8WUM4	PDC6I_HUMAN			12	1977	+			534			Interaction with EIAV p9.|Self-association.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.1600A>T	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	A	33	5.262669	0.95399	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.33216	1.42;1.42	5.35	5.35	0.76521	.	0.159135	0.53938	D	0.000046	T	0.49253	0.1546	M	0.67953	2.075	0.80722	D	1	D;D;D	0.69078	0.98;0.991;0.997	P;P;P	0.58928	0.637;0.801;0.848	T	0.47711	-0.9096	10	0.42905	T	0.14	-11.4853	15.3395	0.74284	1.0:0.0:0.0:0.0	.	315;539;534	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	F	534;539	ENSP00000307387:I534F;ENSP00000411825:I539F	ENSP00000307387:I534F	I	+	1	0	PDCD6IP	33862043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.228000	0.95250	2.032000	0.59987	0.455000	0.32223	ATC		0.468	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			35	178	0	0	0	1	0	35	178				
EP300	2033	broad.mit.edu	37	22	41566499	41566499	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr22:41566499A>T	ENST00000263253.7	+	27	5595	c.4376A>T	c.(4375-4377)aAg>aTg	p.K1459M	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1459	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				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)	p.P1458_K1459delPK(1)		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						AAGATACCCAAGCCCAAGCGA	0.468			"""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"""		1	Deletion - In frame(1)	p.P1458_K1459delPK(1)	urinary_tract(1)	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.(4375-4377)aAg>aTg		E1A binding protein p300							135.0	119.0	124.0					22																	41566499		2203	4300	6503	SO:0001583	missense	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.chr22:41566499A>T	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.4376A>T	22.37:g.41566499A>T	ENSP00000263253:p.Lys1459Met					RP1-85F18.6_ENST00000415054.1_RNA	p.K1459M	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			27	5595	+			1459					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4376A>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266175	0.80358	.	.	ENSG00000100393	ENST00000263253	D	0.94457	-3.43	5.5	5.5	0.81552	.	0.000000	0.50627	D	0.000114	D	0.98099	0.9373	H	0.95224	3.64	0.51233	D	0.999915	D	0.89917	1.0	D	0.91635	0.999	D	0.99457	1.0942	10	0.87932	D	0	-12.2287	15.6131	0.76744	1.0:0.0:0.0:0.0	.	1459	Q09472	EP300_HUMAN	M	1459	ENSP00000263253:K1459M	ENSP00000263253:K1459M	K	+	2	0	EP300	39896445	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.237000	0.95368	2.084000	0.62774	0.533000	0.62120	AAG		0.468	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		36	170	0	0	0	1	0	36	170				
DTYMK	1841	broad.mit.edu	37	2	242625274	242625274	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:242625274C>T	ENST00000305784.2	-	2	356	c.149G>A	c.(148-150)gGc>gAc	p.G50D	DTYMK_ENST00000493095.1_5'UTR	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	50					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)	p.G50D(2)		NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CAGAAGTTTGCCGATTTCAGT	0.388																																						ENST00000305784.2																			2	Substitution - Missense(2)	p.G50D(2)	urinary_tract(1)|lung(1)	NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(148-150)gGc>gAc		deoxythymidylate kinase (thymidylate kinase)							139.0	135.0	137.0					2																	242625274		2203	4296	6499	SO:0001583	missense	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242625274C>T	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.149G>A	2.37:g.242625274C>T	ENSP00000304802:p.Gly50Asp					DTYMK_ENST00000493095.1_5'UTR	p.G50D	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	2	356	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	50					B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	ENST00000305784.2	37	c.149G>A	CCDS2552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.846784|4.846784	0.91277|0.91277	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000420144|ENST00000305784	.|T	.|0.62639	.|0.01	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86875|0.86875	0.6038|0.6038	H|H	0.96805|0.96805	3.885|3.885	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.91331|0.91331	0.5090|0.5090	5|10	.|0.87932	.|D	.|0	-30.7029|-30.7029	19.0388|19.0388	0.92989|0.92989	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|50;50	.|B7ZW70;P23919	.|.;KTHY_HUMAN	T|D	7|50	.|ENSP00000304802:G50D	.|ENSP00000304802:G50D	A|G	-|-	1|2	0|0	DTYMK|DTYMK	242273947|242273947	1.000000|1.000000	0.71417|0.71417	0.796000|0.796000	0.32109|0.32109	0.873000|0.873000	0.50193|0.50193	6.750000|6.750000	0.74888|0.74888	2.472000|2.472000	0.83506|0.83506	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.388	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145		3	122	0	0	0	1	0	3	122				
PEPD	5184	broad.mit.edu	37	19	33882216	33882216	+	Silent	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:33882216C>A	ENST00000244137.7	-	13	1170	c.1137G>T	c.(1135-1137)gtG>gtT	p.V379V	PEPD_ENST00000436370.3_Silent_p.V315V|PEPD_ENST00000397032.4_Silent_p.V338V|PEPD_ENST00000591968.1_5'UTR	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	379					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GGTAGCCTCCCACGTCGTGCA	0.667																																						ENST00000244137.6																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17						c.(1135-1137)gtG>gtT		peptidase D							25.0	29.0	28.0					19																	33882216		2102	4217	6319	SO:0001819	synonymous_variant	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33882216C>A	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1137G>T	19.37:g.33882216C>A						PEPD_ENST00000436370.3_Silent_p.V315V|PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000397032.4_Silent_p.V338V	p.V379V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN			13	1170	-	Esophageal squamous(110;0.137)		379					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Silent	SNP	ENST00000244137.7	37	c.1137G>T	CCDS42544.1																																																																																				0.667	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		6	13	1	0	1	1	1	6	13				
SATB2	23314	broad.mit.edu	37	2	200213434	200213434	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:200213434T>C	ENST00000417098.1	-	7	1979	c.1163A>G	c.(1162-1164)aAc>aGc	p.N388S	SATB2_ENST00000443023.1_Missense_Mutation_p.N329S|SATB2_ENST00000260926.5_Missense_Mutation_p.N388S|SATB2_ENST00000457245.1_Missense_Mutation_p.N388S|SATB2_ENST00000428695.1_Missense_Mutation_p.N270S	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	388					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTGTGCGGTTGAATGCCAC	0.403																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(985-987)aAc>aGc		SATB homeobox 2							117.0	114.0	115.0					2																	200213434		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200213434T>C	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1163A>G	2.37:g.200213434T>C	ENSP00000401112:p.Asn388Ser					SATB2_ENST00000428695.1_Missense_Mutation_p.N270S|SATB2_ENST00000260926.5_Missense_Mutation_p.N388S|SATB2_ENST00000457245.1_Missense_Mutation_p.N388S|SATB2_ENST00000417098.1_Missense_Mutation_p.N388S	p.N329S			Q9UPW6	SATB2_HUMAN			6	2451	-			388					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.986A>G	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526025	0.85600	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.54279	0.6;0.62;0.6;0.58;0.6	5.72	5.72	0.89469	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	L	0.42245	1.32	0.58432	D	0.999998	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.923;0.998;0.987	T	0.68254	-0.5457	10	0.62326	D	0.03	-5.8028	16.0102	0.80396	0.0:0.0:0.0:1.0	.	270;136;388	Q3ZB87;Q9H726;Q9UPW6	.;.;SATB2_HUMAN	S	388;329;388;270;388	ENSP00000401112:N388S;ENSP00000388764:N329S;ENSP00000260926:N388S;ENSP00000388581:N270S;ENSP00000405420:N388S	ENSP00000260926:N388S	N	-	2	0	SATB2	199921679	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	2.190000	0.69967	0.533000	0.62120	AAC		0.403	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		33	172	0	0	0	1	0	33	172				
C2orf47	79568	broad.mit.edu	37	2	200826508	200826508	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:200826508G>C	ENST00000392290.1	+	4	850	c.654G>C	c.(652-654)agG>agC	p.R218S	C2orf47_ENST00000295079.2_Missense_Mutation_p.R218S|C2orf47_ENST00000469156.1_Intron			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	218						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						TCTAAGGAAGGAAGTTTGTTA	0.358																																						ENST00000295079.2																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						c.(652-654)agG>agC		chromosome 2 open reading frame 47							97.0	88.0	91.0					2																	200826508		2203	4300	6503	SO:0001583	missense	79568					mitochondrion		g.chr2:200826508G>C	BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.654G>C	2.37:g.200826508G>C	ENSP00000376111:p.Arg218Ser					C2orf47_ENST00000469156.1_Intron|C2orf47_ENST00000392290.1_Missense_Mutation_p.R218S	p.R218S	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN			5	976	+			218					Q658V9|Q9H671	Missense_Mutation	SNP	ENST00000392290.1	37	c.654G>C	CCDS2329.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178787	0.78564	.	.	ENSG00000162972	ENST00000295079;ENST00000392290	T;T	0.50813	0.73;0.73	6.06	6.06	0.98353	.	0.052233	0.64402	D	0.000001	T	0.61862	0.2381	L	0.59436	1.845	0.49798	D	0.999824	D	0.71674	0.998	D	0.66351	0.943	T	0.63024	-0.6729	10	0.72032	D	0.01	-16.4437	11.4709	0.50268	0.0811:0.0:0.9189:0.0	.	218	Q8WWC4	CB047_HUMAN	S	218	ENSP00000295079:R218S;ENSP00000376111:R218S	ENSP00000295079:R218S	R	+	3	2	C2orf47	200534753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.842000	0.48230	2.880000	0.98712	0.650000	0.86243	AGG		0.358	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520		8	46	0	0	0	1	0	8	46				
MITF	4286	broad.mit.edu	37	3	69928509	69928509	+	Missense_Mutation	SNP	C	C	T	rs190215588		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:69928509C>T	ENST00000448226.2	+	2	456	c.329C>T	c.(328-330)aCg>aTg	p.T110M	MITF_ENST00000394355.2_Missense_Mutation_p.T85M|MITF_ENST00000472437.1_Missense_Mutation_p.T58M|MITF_ENST00000352241.4_Missense_Mutation_p.T110M|MITF_ENST00000314589.5_Missense_Mutation_p.T94M|MITF_ENST00000328528.6_Missense_Mutation_p.T109M			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	110					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCCTCTGCCACGCAGGTGCCG	0.527			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						C|||	1	0.000199681	0.0	0.0014	5008	,	,		19008	0.0		0.0	False		,,,				2504	0.0				Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(328-330)aCg>aTg		microphthalmia-associated transcription factor		C	MET/THR,MET/THR,MET/THR,MET/THR	0,4280		0,0,2140	59.0	68.0	65.0		173,326,329,281	6.0	1.0	3		65	3,8487		0,3,4242	yes	missense,missense,missense,missense	MITF	NM_001184967.1,NM_006722.2,NM_198159.2,NM_198177.2	81,81,81,81	0,3,6382	TT,TC,CC		0.0353,0.0,0.0235	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	58/469,109/520,110/521,94/505	69928509	3,12767	2140	4245	6385	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69928509C>T		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.329C>T	3.37:g.69928509C>T	ENSP00000391803:p.Thr110Met					MITF_ENST00000328528.6_Missense_Mutation_p.T109M|MITF_ENST00000448226.2_Missense_Mutation_p.T110M|MITF_ENST00000394355.2_Missense_Mutation_p.T85M|MITF_ENST00000472437.1_Missense_Mutation_p.T58M|MITF_ENST00000314589.5_Missense_Mutation_p.T94M	p.T110M	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	2	492	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	110					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.329C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.71	3.457179	0.63401	0.0	3.53E-4	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000429090;ENST00000433517;ENST00000472437;ENST00000457080;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355	T;T;T;T;T;T;T;T	0.45276	2.76;2.28;2.56;0.9;2.75;1.96;2.76;2.78	6.02	6.02	0.97574	.	0.259337	0.45361	D	0.000380	T	0.27027	0.0662	N	0.17474	0.49	0.50632	D	0.999887	B;P;P;B;P	0.36125	0.266;0.538;0.538;0.227;0.538	B;B;B;B;B	0.22601	0.012;0.04;0.04;0.024;0.04	T	0.05305	-1.0893	9	.	.	.	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	58;85;94;109;110	E9PFN0;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.	M	110;110;58;58;58;109;109;94;94;85	ENSP00000295600:T110M;ENSP00000391803:T110M;ENSP00000418845:T58M;ENSP00000391276:T109M;ENSP00000327867:T109M;ENSP00000398639:T94M;ENSP00000324443:T94M;ENSP00000377884:T85M	.	T	+	2	0	MITF	70011199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.865000	0.98341	0.655000	0.94253	ACG		0.527	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		25	59	0	0	0	1	0	25	59				
MAGEB6	158809	broad.mit.edu	37	X	26212326	26212326	+	Silent	SNP	C	C	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chrX:26212326C>G	ENST00000379034.1	+	2	512	c.363C>G	c.(361-363)ggC>ggG	p.G121G		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	121	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTGTTTCAGGCTCAAAATATG	0.542																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(361-363)ggC>ggG		melanoma antigen family B, 6							83.0	76.0	79.0					X																	26212326		2189	4254	6443	SO:0001819	synonymous_variant	158809							g.chrX:26212326C>G	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.363C>G	X.37:g.26212326C>G							p.G121G	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	512	+			121			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.363C>G	CCDS14217.1																																																																																				0.542	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		66	111	0	0	0	1	0	66	111				
HYDIN	54768	broad.mit.edu	37	16	70905956	70905956	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr16:70905956A>G	ENST00000393567.2	-	65	11225	c.11075T>C	c.(11074-11076)aTt>aCt	p.I3692T	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3692					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAGAAAGCAATTGTAGCTGA	0.458																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(11074-11076)aTt>aCt		HYDIN, axonemal central pair apparatus protein							67.0	66.0	66.0					16																	70905956		1837	4076	5913	SO:0001583	missense	54768							g.chr16:70905956A>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11075T>C	16.37:g.70905956A>G	ENSP00000377197:p.Ile3692Thr						p.I3692T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			65	11225	-		Ovarian(137;0.0654)	3692					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.11075T>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	A	6.831	0.522523	0.13066	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01025	5.43	4.76	4.76	0.60689	.	2.057610	0.03847	U	0.271693	T	0.01730	0.0055	L	0.38175	1.15	0.80722	D	1	B	0.19200	0.034	B	0.23574	0.047	T	0.53121	-0.8483	10	0.62326	D	0.03	.	12.5305	0.56111	1.0:0.0:0.0:0.0	.	3691	F8WD23	.	T	3692;3691	ENSP00000377197:I3692T	ENSP00000313052:I3691T	I	-	2	0	HYDIN	69463457	0.649000	0.27322	0.005000	0.12908	0.028000	0.11728	6.589000	0.74080	1.769000	0.52152	0.414000	0.27820	ATT		0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	257	0	0	0	1	0	5	257				
SPANXN2	494119	broad.mit.edu	37	X	142795162	142795162	+	Silent	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chrX:142795162T>A	ENST00000370498.1	-	2	1269	c.516A>T	c.(514-516)ggA>ggT	p.G172G		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	172										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTGAAGATCCTTCAGATG	0.468																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(514-516)ggA>ggT		SPANX family, member N2							257.0	229.0	239.0					X																	142795162		2203	4300	6503	SO:0001819	synonymous_variant	494119							g.chrX:142795162T>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.516A>T	X.37:g.142795162T>A							p.G172G	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	1269	-	Acute lymphoblastic leukemia(192;6.56e-05)		172					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.516A>T	CCDS35419.1																																																																																				0.468	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		11	2001	0	0	0	1	0	11	2001				
CDON	50937	broad.mit.edu	37	11	125873838	125873838	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr11:125873838C>A	ENST00000392693.3	-	10	2112	c.1985G>T	c.(1984-1986)gGt>gTt	p.G662V	CDON_ENST00000263577.7_Missense_Mutation_p.G662V|CDON_ENST00000531738.1_Missense_Mutation_p.G39V	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	662	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTGGCCTTCACCTGCTGCGCT	0.502																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1984-1986)gGt>gTt		cell adhesion associated, oncogene regulated							92.0	78.0	83.0					11																	125873838		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125873838C>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1985G>T	11.37:g.125873838C>A	ENSP00000376458:p.Gly662Val					CDON_ENST00000263577.7_Missense_Mutation_p.G662V|CDON_ENST00000531738.1_Missense_Mutation_p.G39V	p.G662V	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	10	2112	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	662			Fibronectin type-III 1.		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.1985G>T	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.557093|3.557093	0.65425|0.65425	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577|ENST00000534661	T;T;T|.	0.74947|.	-0.89;3.25;-0.89|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Fibronectin, type III (4);|.	0.000000|.	0.51477|.	D|.	0.000089|.	D|D	0.83087|0.83087	0.5178|0.5178	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.83058|0.83058	-0.0149|-0.0149	10|5	0.87932|.	D|.	0|.	-25.8961|-25.8961	20.3409|20.3409	0.98764|0.98764	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	662;662;39|.	Q4KMG0;Q4KMG0-2;E9PN78|.	CDON_HUMAN;.;.|.	V|S	662;39;662|637	ENSP00000376458:G662V;ENSP00000432901:G39V;ENSP00000263577:G662V|.	ENSP00000263577:G662V|.	G|R	-|-	2|3	0|2	CDON|CDON	125379048|125379048	1.000000|1.000000	0.71417|0.71417	0.188000|0.188000	0.23233|0.23233	0.216000|0.216000	0.24613|0.24613	7.440000|7.440000	0.80464|0.80464	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.502	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		7	124	1	0	0.000442599	1	0.000462871	7	124				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A						BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site				Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	4	61	0	0	0	1	0	4	61				
ENO2	2026	broad.mit.edu	37	12	7031929	7031929	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr12:7031929C>T	ENST00000535366.1	+	11	1897	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	ENO2_ENST00000545045.2_Missense_Mutation_p.A305V|ENO2_ENST00000229277.1_Missense_Mutation_p.A424V|ENO2_ENST00000541477.1_Missense_Mutation_p.A424V|ENO2_ENST00000538763.1_Missense_Mutation_p.A381V|ATN1_ENST00000356654.4_5'Flank|ENO2_ENST00000544774.1_Missense_Mutation_p.A381V|ENO2_ENST00000534977.1_3'UTR			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	424					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTCGCTTTGCCGGACATAAC	0.527																																						ENST00000535366.1																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1270-1272)gCc>gTc		enolase 2 (gamma, neuronal)							246.0	186.0	206.0					12																	7031929		2203	4300	6503	SO:0001583	missense	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7031929C>T	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.1271C>T	12.37:g.7031929C>T	ENSP00000437402:p.Ala424Val					ENO2_ENST00000545045.2_Missense_Mutation_p.A305V|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000544774.1_Missense_Mutation_p.A381V|ENO2_ENST00000541477.1_Missense_Mutation_p.A424V|ENO2_ENST00000229277.1_Missense_Mutation_p.A424V|ENO2_ENST00000538763.1_Missense_Mutation_p.A381V	p.A424V			P09104	ENOG_HUMAN			11	1897	+			424					B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	37	c.1271C>T	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323174	0.81580	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366;ENST00000545045	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	3.74	3.74	0.42951	Enolase, C-terminal (1);	0.186768	0.45606	D	0.000360	T	0.70587	0.3241	M	0.89785	3.06	0.80722	D	1	P;D	0.56968	0.698;0.978	P;P	0.52481	0.654;0.7	T	0.80605	-0.1308	10	0.72032	D	0.01	-12.3691	16.8504	0.85992	0.0:1.0:0.0:0.0	.	381;424	B7Z2X9;P09104	.;ENOG_HUMAN	V	424;424;381;381;424;305	ENSP00000438873:A424V;ENSP00000229277:A424V;ENSP00000441490:A381V;ENSP00000446195:A381V;ENSP00000437402:A424V;ENSP00000438062:A305V	ENSP00000229277:A424V	A	+	2	0	ENO2	6902190	1.000000	0.71417	0.909000	0.35828	0.401000	0.30781	7.416000	0.80143	2.391000	0.81399	0.462000	0.41574	GCC		0.527	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			5	518	0	0	0	1	0	5	518				
DMXL2	23312	broad.mit.edu	37	15	51758414	51758414	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:51758414T>C	ENST00000251076.5	-	30	7771	c.7484A>G	c.(7483-7485)cAa>cGa	p.Q2495R	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q1859R|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2496R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2495						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTCCTGTATTTGTGTATCTGA	0.313																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(7483-7485)cAa>cGa		Dmx-like 2							103.0	106.0	105.0					15																	51758414		2195	4291	6486	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51758414T>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7484A>G	15.37:g.51758414T>C	ENSP00000251076:p.Gln2495Arg					RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2496R|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q1859R	p.Q2495R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	30	7771	-			2495					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7484A>G	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.865800	0.51588	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.24908	1.97;1.97;1.83	5.16	4.04	0.47022	.	0.053994	0.85682	N	0.000000	T	0.27241	0.0668	M	0.61703	1.905	0.51767	D	0.999934	B;B;B;B	0.13145	0.0;0.007;0.0;0.003	B;B;B;B	0.10450	0.003;0.005;0.001;0.005	T	0.06552	-1.0820	10	0.62326	D	0.03	.	10.8924	0.47002	0.0:0.0734:0.0:0.9266	.	2496;1859;2495;2496	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	R	2495;2496;1859;40	ENSP00000251076:Q2495R;ENSP00000441858:Q2496R;ENSP00000400855:Q1859R	ENSP00000251076:Q2495R	Q	-	2	0	DMXL2	49545706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.337000	0.59310	0.991000	0.38814	0.533000	0.62120	CAA		0.313	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		14	56	0	0	0	1	0	14	56				
KIF11	3832	broad.mit.edu	37	10	94369179	94369179	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr10:94369179T>A	ENST00000260731.3	+	6	701	c.611T>A	c.(610-612)gTa>gAa	p.V204E		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	204	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)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAATTACAGTACACAACAAG	0.373																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(610-612)gTa>gAa		kinesin family member 11							202.0	222.0	215.0					10																	94369179		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94369179T>A	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.611T>A	10.37:g.94369179T>A	ENSP00000260731:p.Val204Glu						p.V204E	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			6	701	+			204			Kinesin-motor.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.611T>A	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821186	0.90873	.	.	ENSG00000138160	ENST00000260731	D	0.89746	-2.56	5.54	5.54	0.83059	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	H	0.98178	4.165	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98231	1.0483	10	0.87932	D	0	.	15.8422	0.78857	0.0:0.0:0.0:1.0	.	204	P52732	KIF11_HUMAN	E	204	ENSP00000260731:V204E	ENSP00000260731:V204E	V	+	2	0	KIF11	94359159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.664000	0.83830	2.323000	0.78572	0.528000	0.53228	GTA		0.373	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		5	318	0	0	0	1	0	5	318				
KRTAP12-3	386683	broad.mit.edu	37	21	46078021	46078021	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr21:46078021G>A	ENST00000397907.1	+	1	173	c.125G>A	c.(124-126)cGc>cAc	p.R42H	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	42	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGCTGCACGCGCATTGTGTGC	0.642																																						ENST00000397907.1																			0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(124-126)cGc>cAc		keratin associated protein 12-3							97.0	110.0	106.0					21																	46078021		2188	4268	6456	SO:0001583	missense	386683					intermediate filament		g.chr21:46078021G>A	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.125G>A	21.37:g.46078021G>A	ENSP00000381005:p.Arg42His					TSPEAR_ENST00000323084.4_Intron	p.R42H	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN			1	173	+			42			14 X 5 AA approximate repeats.			Missense_Mutation	SNP	ENST00000397907.1	37	c.125G>A	CCDS42964.1	.	.	.	.	.	.	.	.	.	.	N	13.22	2.172317	0.38315	.	.	ENSG00000205439	ENST00000397907	T	0.01414	4.92	3.85	2.0	0.26442	.	.	.	.	.	T	0.01661	0.0053	.	.	.	0.09310	N	1	D	0.57571	0.98	B	0.42593	0.392	T	0.52034	-0.8629	8	0.72032	D	0.01	.	6.6436	0.22923	0.2005:0.5959:0.2036:0.0	.	42	P60328	KR123_HUMAN	H	42	ENSP00000381005:R42H	ENSP00000381005:R42H	R	+	2	0	KRTAP12-3	44902449	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.262000	0.18460	0.308000	0.22923	-2.157000	0.00329	CGC		0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			5	466	0	0	0	1	0	5	466				
LELP1	149018	broad.mit.edu	37	1	153177408	153177408	+	Silent	SNP	C	C	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:153177408C>A	ENST00000368747.1	+	2	335	c.225C>A	c.(223-225)acC>acA	p.T75T		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	75	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCCTGCACCAAGCCCTGTC	0.627																																						ENST00000368747.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19						c.(223-225)acC>acA		late cornified envelope-like proline-rich 1							118.0	94.0	102.0					1																	153177408		2203	4300	6503	SO:0001819	synonymous_variant	149018							g.chr1:153177408C>A		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.225C>A	1.37:g.153177408C>A							p.T75T	NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	335	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		75			Cys/Pro-rich.		A1L4E1	Silent	SNP	ENST00000368747.1	37	c.225C>A	CCDS30869.1																																																																																				0.627	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857		34	127	1	0	8.4185e-14	1	9.22668e-14	34	127				
LRRC61	65999	broad.mit.edu	37	7	150034457	150034457	+	Silent	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:150034457T>A	ENST00000359623.4	+	3	1095	c.507T>A	c.(505-507)ggT>ggA	p.G169G	LRRC61_ENST00000493307.1_Silent_p.G169G|LRRC61_ENST00000323078.7_Silent_p.G169G	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	169	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTGGGCGTGGTAGTGAGTTCT	0.652																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(505-507)ggT>ggA		leucine rich repeat containing 61							89.0	90.0	90.0					7																	150034457		2203	4300	6503	SO:0001819	synonymous_variant	65999							g.chr7:150034457T>A	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.507T>A	7.37:g.150034457T>A						LRRC61_ENST00000323078.7_Silent_p.G169G|LRRC61_ENST00000493307.1_Silent_p.G169G	p.G169G	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	1095	+			169			LRRCT.		B3KUW0|D3DWY8	Silent	SNP	ENST00000359623.4	37	c.507T>A	CCDS5901.1																																																																																				0.652	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		36	155	0	0	0	1	0	36	155				
ZDHHC18	84243	broad.mit.edu	37	1	27176851	27176851	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:27176851T>A	ENST00000374142.4	+	4	801	c.706T>A	c.(706-708)Ttc>Atc	p.F236I		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	236					cellular protein localization (GO:0034613)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		GAACTATCGCTTCTTCTACGC	0.577																																						ENST00000374142.3																			0				endometrium(1)|large_intestine(2)	3						c.(706-708)Ttc>Atc		zinc finger, DHHC-type containing 18							193.0	164.0	174.0					1																	27176851		2203	4300	6503	SO:0001583	missense	84243					integral to membrane	zinc ion binding	g.chr1:27176851T>A	AK056427	CCDS30650.1	1p36.11	2008-05-02			ENSG00000204160	ENSG00000204160		"""Zinc fingers, DHHC-type"""	20712	protein-coding gene	gene with protein product							Standard	NM_032283		Approved	DKFZp667O2416	uc001bnb.3	Q9NUE0	OTTHUMG00000004092	ENST00000374142.4:c.706T>A	1.37:g.27176851T>A	ENSP00000363257:p.Phe236Ile						p.F236I	NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)	4	801	+		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	236					A6NHY9|B4DQ84|Q5JYH0|Q9H020	Missense_Mutation	SNP	ENST00000374142.4	37	c.706T>A	CCDS30650.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004653	0.93287	.	.	ENSG00000204160	ENST00000374142;ENST00000374141;ENST00000534643	T;T;T	0.25085	1.82;1.82;1.82	5.05	5.05	0.67936	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.052238	0.85682	D	0.000000	T	0.42426	0.1202	M	0.67625	2.065	0.49687	D	0.999817	P	0.47484	0.896	P	0.53224	0.721	T	0.40942	-0.9536	10	0.87932	D	0	-9.7432	14.9513	0.71077	0.0:0.0:0.0:1.0	.	236	Q9NUE0	ZDH18_HUMAN	I	236;101;101	ENSP00000363257:F236I;ENSP00000363256:F101I;ENSP00000435510:F101I	ENSP00000363256:F101I	F	+	1	0	ZDHHC18	27049438	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.698000	0.68302	2.114000	0.64651	0.459000	0.35465	TTC		0.577	ZDHHC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011706.3	NM_032283		43	174	0	0	0	1	0	43	174				
ABCC3	8714	broad.mit.edu	37	17	48755516	48755516	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:48755516C>T	ENST00000285238.8	+	25	3721	c.3641C>T	c.(3640-3642)gCc>gTc	p.A1214V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1214	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GCACTATTTGCCGTCATCGGG	0.622																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3640-3642)gCc>gTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						131.0	117.0	122.0					17																	48755516		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48755516C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3641C>T	17.37:g.48755516C>T	ENSP00000285238:p.Ala1214Val						p.A1214V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		25	3721	+			1214			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.3641C>T	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438006	0.83885	.	.	ENSG00000108846	ENST00000285238	D	0.89552	-2.53	5.44	5.44	0.79542	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.117723	0.56097	D	0.000024	D	0.94049	0.8093	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94280	0.7519	10	0.72032	D	0.01	-2.7373	19.2521	0.93929	0.0:1.0:0.0:0.0	.	1214	O15438	MRP3_HUMAN	V	1214	ENSP00000285238:A1214V	ENSP00000285238:A1214V	A	+	2	0	ABCC3	46110515	1.000000	0.71417	0.814000	0.32528	0.155000	0.21991	6.010000	0.70753	2.557000	0.86248	0.655000	0.94253	GCC		0.622	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		5	309	0	0	0	1	0	5	309				
C10orf35	219738	broad.mit.edu	37	10	71392632	71392632	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr10:71392632G>T	ENST00000373279.4	+	4	342	c.183G>T	c.(181-183)caG>caT	p.Q61H	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	61						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GTGCTGCTCAGTCCCCCTTCA	0.632																																						ENST00000373279.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(181-183)caG>caT		chromosome 10 open reading frame 35							71.0	58.0	63.0					10																	71392632		2203	4300	6503	SO:0001583	missense	219738					integral to membrane		g.chr10:71392632G>T	BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.183G>T	10.37:g.71392632G>T	ENSP00000362376:p.Gln61His					C10orf35_ENST00000491890.1_3'UTR	p.Q61H	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN			4	342	+			61						Missense_Mutation	SNP	ENST00000373279.4	37	c.183G>T	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623288	0.46840	.	.	ENSG00000171224	ENST00000373279;ENST00000421716	.	.	.	4.81	2.83	0.33086	.	0.348665	0.23748	N	0.044948	T	0.18676	0.0448	N	0.14661	0.345	0.29536	N	0.852469	B	0.31351	0.32	B	0.31101	0.124	T	0.08743	-1.0707	9	0.41790	T	0.15	-10.4196	5.9677	0.19334	0.1135:0.3121:0.5743:0.0	.	61	Q96D05	CJ035_HUMAN	H	61;103	.	ENSP00000362376:Q61H	Q	+	3	2	C10orf35	71062638	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.180000	0.32005	1.226000	0.43582	0.561000	0.74099	CAG		0.632	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	NM_145306		8	44	1	0	3.86212e-05	1	4.10163e-05	8	44				
USP32	84669	broad.mit.edu	37	17	58282987	58282987	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:58282987A>C	ENST00000300896.4	-	26	3264	c.3070T>G	c.(3070-3072)Ttc>Gtc	p.F1024V	USP32_ENST00000592339.1_Missense_Mutation_p.F694V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1024	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTTAGGGTGAACATTTCATTT	0.398																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(3070-3072)Ttc>Gtc		ubiquitin specific peptidase 32							173.0	155.0	161.0					17																	58282987		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58282987A>C	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3070T>G	17.37:g.58282987A>C	ENSP00000300896:p.Phe1024Val					USP32_ENST00000592339.1_Missense_Mutation_p.F694V	p.F1024V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		26	3264	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1024					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.3070T>G	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	8.675	0.903734	0.17760	.	.	ENSG00000170832	ENST00000300896	T	0.39997	1.05	4.72	3.41	0.39046	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.533271	0.20961	N	0.082567	T	0.20251	0.0487	N	0.16567	0.415	0.42614	D	0.993327	B	0.02656	0.0	B	0.06405	0.002	T	0.10428	-1.0630	10	0.15952	T	0.53	.	3.4752	0.07582	0.6587:0.0:0.3413:0.0	.	1024	Q8NFA0	UBP32_HUMAN	V	1024	ENSP00000300896:F1024V	ENSP00000300896:F1024V	F	-	1	0	USP32	55637769	1.000000	0.71417	0.983000	0.44433	0.781000	0.44180	4.910000	0.63321	1.881000	0.54492	0.533000	0.62120	TTC		0.398	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		48	176	0	0	0	1	0	48	176				
GPR125	166647	broad.mit.edu	37	4	22437012	22437012	+	Silent	SNP	A	A	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:22437012A>T	ENST00000334304.5	-	10	1634	c.1365T>A	c.(1363-1365)tcT>tcA	p.S455S	GPR125_ENST00000502482.1_Silent_p.S455S|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Silent_p.S229S	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	455					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCATTTTGTCAGAAAAGTTGG	0.378																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1363-1365)tcT>tcA		G protein-coupled receptor 125							79.0	76.0	77.0					4																	22437012		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22437012A>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1365T>A	4.37:g.22437012A>T						GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Silent_p.S455S|GPR125_ENST00000508133.1_Silent_p.S229S	p.S455S	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			10	1634	-		Breast(46;0.198)	455					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.1365T>A	CCDS33964.1																																																																																				0.378	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			26	67	0	0	0	1	0	26	67				
ASTN2	23245	broad.mit.edu	37	9	119204736	119204736	+	Silent	SNP	T	T	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr9:119204736T>C	ENST00000313400.4	-	21	3694	c.3594A>G	c.(3592-3594)gcA>gcG	p.A1198A	ASTN2_ENST00000288520.5_Silent_p.A299A|ASTN2_ENST00000341734.4_Silent_p.A250A|ASTN2_ENST00000361209.2_Silent_p.A1147A|ASTN2_ENST00000361477.3_Silent_p.A250A|ASTN2_ENST00000373996.3_Silent_p.A1194A			O75129	ASTN2_HUMAN	astrotactin 2	1198					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCTACCTTCTGCCTTGTTGT	0.498																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3592-3594)gcA>gcG		astrotactin 2							198.0	169.0	179.0					9																	119204736		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119204736T>C	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3594A>G	9.37:g.119204736T>C						ASTN2_ENST00000361209.2_Silent_p.A1147A|ASTN2_ENST00000288520.5_Silent_p.A299A|ASTN2_ENST00000373996.3_Silent_p.A1194A|ASTN2_ENST00000361477.3_Silent_p.A250A|ASTN2_ENST00000341734.4_Silent_p.A250A	p.A1198A			O75129	ASTN2_HUMAN			21	3694	-			1198					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.3594A>G																																																																																					0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		73	302	0	0	0	1	0	73	302				
PADI6	353238	broad.mit.edu	37	1	17725285	17725286	+	RNA	DEL	AC	AC	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:17725285_17725286delAC	ENST00000434762.2	+	0	1844_1845							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGCTGACTAACATCCCCTCTG	0.599																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17725285_17725286delAC	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17725285_17725286delAC										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1844_1845	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.599	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		22	129						22	129	---	---	---	---
LDLRAP1	26119	broad.mit.edu	37	1	25889626	25889627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:25889626_25889627insC	ENST00000374338.4	+	6	717_718	c.598_599insC	c.(598-600)accfs	p.T200fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	200					amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGACTGCACCCCCTCCTTG	0.634																																						ENST00000374338.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(598-600)cccfs		low density lipoprotein receptor adaptor protein 1																																				SO:0001589	frameshift_variant	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25889626_25889627insC	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.603dupC	1.37:g.25889631_25889631dupC	ENSP00000363458:p.Thr200fs					LDLRAP1_ENST00000488127.1_3'UTR	p.P200fs	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	6	717_718	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	200					A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Frame_Shift_Ins	INS	ENST00000374338.4	37	c.598_599insC	CCDS30639.1																																																																																				0.634	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		7	197						7	197	---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26608878	26608883	+	In_Frame_Del	DEL	CCGGGA	CCGGGA	-	rs1134580|rs1134581|rs140364749	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:26608878_26608883delCCGGGA	ENST00000374222.1	-	16	1934_1939	c.1470_1475delTCCCGG	c.(1468-1476)ggtcccggc>ggc	p.490_492GPG>G	UBXN11_ENST00000374217.2_In_Frame_Del_p.457_459GPG>G|UBXN11_ENST00000357089.4_In_Frame_Del_p.457_459GPG>G|UBXN11_ENST00000374223.1_In_Frame_Del_p.247_249GPG>G|UBXN11_ENST00000374221.3_In_Frame_Del_p.490_492GPG>G|UBXN11_ENST00000314675.7_In_Frame_Del_p.370_372GPG>G			Q5T124	UBX11_HUMAN	UBX domain protein 11	490	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggactggggccgggaccgggaccgg	0.718																																						ENST00000314675.7																			1	Deletion - In frame(1)	p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1108-1116)ggc>gg		UBX domain protein 11																																				SO:0001651	inframe_deletion	91544					cytoplasm|cytoskeleton		g.chr1:26608878_26608883delCCGGGA	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1470_1475delTCCCGG	1.37:g.26608884_26608889delCCGGGA	ENSP00000363339:p.Gly492_Pro493del					UBXN11_ENST00000374222.1_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPG247del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPG457del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPG490del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPG457del	p.GPG370del	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1189_1194	-			490					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	In_Frame_Del	DEL	ENST00000374222.1	37	c.1110_1115delTCCCGG	CCDS41288.1																																																																																				0.718	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		19	49						19	49	---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26885310	26885311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:26885310_26885311insC	ENST00000374168.2	+	14	1251_1252	c.1097_1098insC	c.(1096-1101)atccccfs	p.IP366fs	RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.IP375fs|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_ENST00000374162.2_Frame_Shift_Ins_p.IP274fs	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_ENST00000531382.1_Frame_Shift_Ins_p.T375fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T355fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T350fs	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		8	192						8	192	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs	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_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|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		20	648						20	648	---	---	---	---
RAB42	115273	broad.mit.edu	37	1	28920546	28920547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:28920546_28920547insG	ENST00000373826.3	+	2	541_542	c.235_236insG	c.(235-237)tggfs	p.W79fs	TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	79					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGGCTGGGGGGGTGTC	0.584																																						ENST00000373826.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(235-237)gggfs		RAB42, member RAS oncogene family																																				SO:0001589	frameshift_variant	115273				small GTPase mediated signal transduction	membrane	GTP binding	g.chr1:28920546_28920547insG	BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"""RAB, member RAS oncogene"""	28702	protein-coding gene	gene with protein product			"""RAB42, member RAS homolog family"""				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.242dupG	1.37:g.28920553_28920553dupG	ENSP00000362932:p.Trp79fs					RAB42_ENST00000465518.1_3'UTR|TAF12_ENST00000471683.1_Intron	p.G79fs	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)	2	541_542	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	79					B2R5G2	Frame_Shift_Ins	INS	ENST00000373826.3	37	c.235_236insG	CCDS325.1																																																																																				0.584	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010371.1	NM_152304		9	121						9	121	---	---	---	---
BAI2	576	broad.mit.edu	37	1	32207235	32207236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:32207235_32207236insG	ENST00000373658.3	-	10	2017_2018	c.1676_1677insC	c.(1675-1677)ccgfs	p.P559fs	BAI2_ENST00000440175.2_Frame_Shift_Ins_p.P201fs|BAI2_ENST00000527361.1_Frame_Shift_Ins_p.P559fs|BAI2_ENST00000398542.1_Frame_Shift_Ins_p.P492fs|BAI2_ENST00000257070.4_Frame_Shift_Ins_p.P559fs|BAI2_ENST00000373655.2_Frame_Shift_Ins_p.P559fs|BAI2_ENST00000398538.1_Frame_Shift_Ins_p.P547fs|BAI2_ENST00000398556.3_Frame_Shift_Ins_p.P507fs|BAI2_ENST00000398547.1_Frame_Shift_Ins_p.P492fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	559					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P559Q(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGAGGCATTCGGGGGGCACTT	0.594																																						ENST00000373658.3																			1	Substitution - Missense(1)	p.P559Q(1)	central_nervous_system(1)	breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1675-1677)caafs		brain-specific angiogenesis inhibitor 2																																				SO:0001589	frameshift_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207235_32207236insG	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1677dupC	1.37:g.32207241_32207241dupG	ENSP00000362762:p.Pro559fs					BAI2_ENST00000257070.4_Frame_Shift_Ins_p.Q559fs|BAI2_ENST00000373655.2_Frame_Shift_Ins_p.Q559fs|BAI2_ENST00000527361.1_Frame_Shift_Ins_p.Q559fs|BAI2_ENST00000398542.1_Frame_Shift_Ins_p.Q492fs|BAI2_ENST00000398538.1_Frame_Shift_Ins_p.Q547fs|BAI2_ENST00000398547.1_Frame_Shift_Ins_p.Q492fs|BAI2_ENST00000398556.3_Frame_Shift_Ins_p.Q507fs|BAI2_ENST00000440175.2_Frame_Shift_Ins_p.Q201fs	p.Q559fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	10	2017_2018	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	559					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Frame_Shift_Ins	INS	ENST00000373658.3	37	c.1676_1677insC	CCDS346.2																																																																																				0.594	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		17	235						17	235	---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)cggfs	p.R310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.R271fs	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.5																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(928-930)gggfs		KH domain containing, RNA binding, signal transduction associated 1																																				SO:0001589	frameshift_variant	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32503458_32503459insG	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.934dupG	1.37:g.32503464_32503464dupG	ENSP00000313829:p.Arg310fs					KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	p.G310fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN			6	1095_1096	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	310			Arg/Gly-rich.			Frame_Shift_Ins	INS	ENST00000327300.7	37	c.928_929insG	CCDS350.1																																																																																				0.500	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		8	446						8	446	---	---	---	---
BMP8A	353500	broad.mit.edu	37	1	39988691	39988692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:39988691_39988692insC	ENST00000331593.5	+	6	1307_1308	c.961_962insC	c.(961-963)gccfs	p.A321fs	RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	321					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGGTCATCGCCCCCCAAGGC	0.644																																						ENST00000331593.5																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(961-963)cccfs		bone morphogenetic protein 8a																																				SO:0001589	frameshift_variant	353500				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:39988691_39988692insC	AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.967dupC	1.37:g.39988697_39988697dupC	ENSP00000327440:p.Ala321fs					RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000440190.1_RNA	p.P321fs	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		6	1307_1308	+	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	321					Q5T3A5	Frame_Shift_Ins	INS	ENST00000331593.5	37	c.961_962insC	CCDS437.1																																																																																				0.644	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809		7	478						7	478	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)caafs	p.Q304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.Q194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(910-912)aaafs		zinc finger, MYND-type containing 12																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42898878_42898879insG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.911dupC	1.37:g.42898884_42898884dupG	ENSP00000361646:p.Gln304fs					ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	p.K304fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			7	1179_1180	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	304					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Ins	INS	ENST00000372565.3	37	c.910_911insC	CCDS467.1																																																																																				0.411	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		8	396						8	396	---	---	---	---
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)gccfs	p.A696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.47																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2086-2088)cccfs		lysine (K)-specific demethylase 4A																																				SO:0001589	frameshift_variant	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44156564_44156565insC	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2092dupC	1.37:g.44156570_44156570dupC	ENSP00000361473:p.Ala696fs						p.P696fs	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			14	2220_2221	+			696					Q5VVB1	Frame_Shift_Ins	INS	ENST00000372396.3	37	c.2086_2087insC	CCDS491.1																																																																																				0.470	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		8	763						8	763	---	---	---	---
LRRC41	10489	broad.mit.edu	37	1	46752129	46752129	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:46752129delA	ENST00000343304.6	-	4	685	c.400delT	c.(400-402)tccfs	p.S134fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	134					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGAACATGGGAAAAAAAGGCC	0.483																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(400-402)ccfs		leucine rich repeat containing 41							69.0	63.0	65.0					1																	46752129		2203	4300	6503	SO:0001589	frameshift_variant	10489							g.chr1:46752129delA	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.400delT	1.37:g.46752129delA	ENSP00000343298:p.Ser134fs					LRRC41_ENST00000472710.1_5'UTR	p.S134fs	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	685	-	Acute lymphoblastic leukemia(166;0.155)		134					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Frame_Shift_Del	DEL	ENST00000343304.6	37	c.400delT	CCDS533.1																																																																																				0.483	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		7	466						7	466	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs					FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		34	623						34	623	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron	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_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron	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		16	327						16	327	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G	rs368823178		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGACGATCAACGGGGGGGCCAC	0.54			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1288-1290)cttfs		Janus kinase 1																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65325832_65325833insG	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1290dupC	1.37:g.65325839_65325839dupG	ENSP00000343204:p.Pro430fs						p.L430fs	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	9	1537_1538	-			430					Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.1289_1290insC	CCDS41346.1																																																																																				0.540	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		10	357						10	357	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)gggcacfs	p.H432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1291-1296)ggacaafs		guanylate binding protein 7																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613321_89613322insC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1294dupG	1.37:g.89613328_89613328dupC	ENSP00000294671:p.His432fs						p.Q432fs	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1431_1432	-		Lung NSC(277;0.0908)	432						Frame_Shift_Ins	INS	ENST00000294671.2	37	c.1293_1294insG	CCDS720.1																																																																																				0.436	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		7	133						7	133	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		18	331						18	331	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:114523958_114523959insC	ENST00000320334.4	+	3	862_863	c.788_789insC	c.(787-792)atccccfs	p.IP263fs	OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.IP243fs	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(727-729)accfs		olfactomedin-like 3																																				SO:0001589	frameshift_variant	56944				multicellular organismal development	extracellular region		g.chr1:114523958_114523959insC	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.795dupC	1.37:g.114523965_114523965dupC	ENSP00000322273:p.Ile263fs					OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs	p.T243fs			Q9NRN5	OLFL3_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)	4	1016_1017	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	263			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	c.728_729insC	CCDS870.1																																																																																				0.559	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		10	294						10	294	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G	rs202019968		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	712						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4105-4107)Aat>Gat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145327548A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4105A>G	1.37:g.145327548A>G	ENSP00000345684:p.Asn1369Asp					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.N1369D	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	32	4140	+	all_hematologic(923;0.032)		1369					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4105A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.181510	0.00308	.	.	ENSG00000163386	ENST00000342960	T	0.03301	3.98	1.5	-0.755	0.11061	.	.	.	.	.	T	0.00210	0.0006	N	0.00179	-1.91	0.09310	N	1	.	.	.	.	.	.	T	0.40608	-0.9554	7	0.02654	T	1	.	5.1791	0.15150	0.6356:0.0:0.3644:0.0	.	.	.	.	D	1369	ENSP00000345684:N1369D	ENSP00000345684:N1369D	N	+	1	0	NBPF10	144038905	0.003000	0.15002	0.004000	0.12327	0.050000	0.14768	-0.536000	0.06135	-0.488000	0.06726	-1.353000	0.01230	AAT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	4	0	0	0	1	0	3	4				
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		9	419						9	419	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1257)tgccccfs	p.CP418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.CP383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584022_145584023insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1259dupC	1.37:g.145584028_145584028dupC	ENSP00000376765:p.Cys418fs					PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	p.S418fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			10	1343_1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1253_1254insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		9	825						9	825	---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149885018	149885019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:149885018_149885019insC	ENST00000369146.3	-	2	864_865	c.374_375insG	c.(373-375)ggcfs	p.G125fs	SV2A_ENST00000369145.1_Frame_Shift_Ins_p.G125fs	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	125					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(373-375)gttfs		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)																																			SO:0001589	frameshift_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885018_149885019insC	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.375dupG	1.37:g.149885025_149885025dupC	ENSP00000358142:p.Gly125fs					SV2A_ENST00000369145.1_Frame_Shift_Ins_p.V125fs	p.V125fs	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	864_865	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		125					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Frame_Shift_Ins	INS	ENST00000369146.3	37	c.374_375insG	CCDS940.1																																																																																				0.629	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			7	142						7	142	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G	rs548049340		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)ccafs	p.P19fs	RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.P19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(55-57)cggfs		regulatory factor X, 5 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151318740_151318741insG		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.57dupC	1.37:g.151318747_151318747dupG	ENSP00000290524:p.Pro19fs					RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs	p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	234_235	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		19					B7Z848|D3DV19|E9PFU4|Q5VWC3	Frame_Shift_Ins	INS	ENST00000290524.4	37	c.56_57insC	CCDS994.1																																																																																				0.554	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		14	413						14	413	---	---	---	---
LCE1B	353132	broad.mit.edu	37	1	152785008	152785009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:152785008_152785009insC	ENST00000360090.3	+	1	562_563	c.86_87insC	c.(85-90)tgccccfs	p.CP29fs		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	29	Pro-rich.				keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCTAGATGCCCCCCAAAGT	0.629																																						ENST00000360090.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18						c.(85-87)tccfs		late cornified envelope 1B																																				SO:0001589	frameshift_variant	353132				keratinization			g.chr1:152785008_152785009insC	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.92dupC	1.37:g.152785014_152785014dupC	ENSP00000353203:p.Cys29fs						p.S29fs	NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	562_563	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Pro-rich.		A4IF40	Frame_Shift_Ins	INS	ENST00000360090.3	37	c.86_87insC	CCDS1027.1																																																																																				0.629	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		8	305						8	305	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000368211.4																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs					MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN			2	190_191	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		10	262						10	262	---	---	---	---
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1134)gtccccfs	p.VP377fs	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.Q380fs*12(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)					CCGGCCCTGGTCCCCCCCCAGG	0.53			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	1	Insertion - Frameshift(1)	p.Q380fs*12(1)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1129-1131)gccfs		papillary renal cell carcinoma (translocation-associated)				24,4242		0,24,2109						4.4	0.9			74	14,8240		0,14,4113	no	frameshift	PRCC	NM_005973.4		0,38,6222	A1A1,A1R,RR		0.1696,0.5626,0.3035				38,12482				SO:0001589	frameshift_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156761535_156761536insC	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.1138dupC	1.37:g.156761543_156761543dupC	ENSP00000271526:p.Val377fs					PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	p.A377fs	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			4	1402_1403	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		377					A8K1F7|O00665|O00724|Q5SZ06	Frame_Shift_Ins	INS	ENST00000271526.4	37	c.1130_1131insC	CCDS1157.1																																																																																				0.530	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		13	243						13	243	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159900127	159900128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:159900127_159900128insC	ENST00000368094.1	-	15	2112_2113	c.1915_1916insG	c.(1915-1917)gtafs	p.V639fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.V623fs|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	639	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCAGGAGTACCCCCCGGGGT	0.673																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1915-1917)actfs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159900127_159900128insC	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1916dupG	1.37:g.159900133_159900133dupC	ENSP00000357073:p.Val639fs					IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.T623fs	p.T639fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	2112_2113	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	639			Fibronectin type-III 2.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.1915_1916insG	CCDS44254.1																																																																																				0.673	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		10	816						10	816	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160134105	160134106	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:160134105_160134106insT	ENST00000368081.4	+	7	1409_1410	c.938_939insT	c.(937-942)acttttfs	p.TF313fs		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	313					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTGGTGTCACTTTTTTTGCGC	0.535																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(937-939)attfs		ATPase, Na+/K+ transporting, alpha 4 polypeptide																																				SO:0001589	frameshift_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160134105_160134106insT	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.945dupT	1.37:g.160134112_160134112dupT	ENSP00000357060:p.Thr313fs						p.I313fs	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1409_1410	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		313					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Frame_Shift_Ins	INS	ENST00000368081.4	37	c.938_939insT	CCDS1197.1																																																																																				0.535	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		8	802						8	802	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.LG408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574																																						ENST00000367662.3																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.L408fs*49(2)|p.L408L(2)	lung(4)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1222-1224)cggfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563963_176563964insG	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1229dupG	1.37:g.176563969_176563969dupG	ENSP00000356634:p.Leu408fs					PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2387_2388	+			408					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.1223_1224insG	CCDS41438.1																																																																																				0.574	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			9	669						9	669	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)gggaggfs	p.R584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.R584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1747-1752)ggggtafs		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046125_201046126insC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1750dupG	1.37:g.201046131_201046131dupC	ENSP00000355192:p.Arg584fs					CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1975_1976	-			584					A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Ins	INS	ENST00000362061.3	37	c.1749_1750insG	CCDS1407.1																																																																																				0.574	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		10	589						10	589	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000341360.2_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_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_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		16	232						16	232	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367057.3_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_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	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		11	385						11	385	---	---	---	---
SERTAD4	56256	broad.mit.edu	37	1	210411418	210411419	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:210411418_210411419insC	ENST00000367012.3	+	2	343_344	c.113_114insC	c.(112-117)agccccfs	p.SP38fs	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	38						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GGAGGCCCAAGCCCCCCAGGGC	0.619																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(112-114)accfs		SERTA domain containing 4																																				SO:0001589	frameshift_variant	56256						protein binding	g.chr1:210411418_210411419insC	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.119dupC	1.37:g.210411424_210411424dupC	ENSP00000355979:p.Ser38fs					SERTAD4_ENST00000490620.1_3'UTR	p.T38fs	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	2	343_344	+			38					B2RD32	Frame_Shift_Ins	INS	ENST00000367012.3	37	c.113_114insC	CCDS1494.1																																																																																				0.619	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		9	343						9	343	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)ggcfs	p.G304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.G216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				ACATCGTGGTGCCCCCCGACAT	0.589																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(910-912)gacfs		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)																																			SO:0001589	frameshift_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567546_229567547insC	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.912dupG	1.37:g.229567552_229567552dupC	ENSP00000355645:p.Gly304fs					ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	p.D304fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			6	1013_1014	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	304					P02568|P99020|Q5T8M9	Frame_Shift_Ins	INS	ENST00000366684.3	37	c.911_912insG	CCDS1578.1																																																																																				0.589	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		9	397						9	397	---	---	---	---
CAD	790	broad.mit.edu	37	2	27456981	27456982	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:27456981_27456982insC	ENST00000403525.1	+	21	3460_3461	c.3316_3317insC	c.(3316-3318)accfs	p.T1106fs	CAD_ENST00000264705.4_Frame_Shift_Ins_p.T1169fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACGCTGGTGACCCCCCCACAA	0.574																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3505-3507)cccfs		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456981_27456982insC	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3323dupC	2.37:g.27456988_27456988dupC	ENSP00000384510:p.Thr1106fs					CAD_ENST00000403525.1_Frame_Shift_Ins_p.P1106fs	p.P1169fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			22	3667_3668	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1169			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Ins	INS	ENST00000403525.1	37	c.3505_3506insC																																																																																					0.574	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			7	154						7	154	---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27479379	27479380	+	Frame_Shift_Ins	INS	-	-	G	rs146572471	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:27479379_27479380insG	ENST00000233535.4	-	7	1244_1245	c.892_893insC	c.(892-894)cgcfs	p.R298fs	SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.R293fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	298					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)	p.R298H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACATTGCGGGGGGTACCT	0.604																																						ENST00000233535.4																			1	Substitution - Missense(1)	p.R298H(1)	pancreas(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(892-894)caafs		solute carrier family 30 (zinc transporter), member 3																																				SO:0001589	frameshift_variant	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27479379_27479380insG	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.893dupC	2.37:g.27479385_27479385dupG	ENSP00000233535:p.Arg298fs					SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.Q293fs	p.Q298fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			7	1244_1245	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		298					Q8TC03	Frame_Shift_Ins	INS	ENST00000233535.4	37	c.892_893insC	CCDS1743.1																																																																																				0.604	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			9	267						9	267	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.S785fs|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2752-2757)ccgcaafs		dynactin 1																																				SO:0001589	frameshift_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593376_74593377insG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2755dupC	2.37:g.74593382_74593382dupG	ENSP00000354791:p.Ser919fs					DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs	p.Q919fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			23	3071_3072	-			919					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Frame_Shift_Ins	INS	ENST00000361874.3	37	c.2754_2755insC	CCDS1939.1																																																																																				0.559	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		9	925						9	925	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C	rs547055147	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:74687542_74687543insC	ENST00000233615.2	+	4	818_819	c.544_545insC	c.(544-546)gccfs	p.A182fs	WBP1_ENST00000393972.3_Frame_Shift_Ins_p.A216fs|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.A179fs|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													CCCCCCc|CCCCCCC|CCCCCCCC|insertion	4	0.000798722	0.0015	0.0	5008	,	,		17122	0.001		0.0	False		,,,				2504	0.001					ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(646-648)cccfs		WW domain binding protein 1																																				SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74687542_74687543insC	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.551dupC	2.37:g.74687549_74687549dupC	ENSP00000233615:p.Ala182fs					WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000494741.1_3'UTR	p.P216fs			Q96G27	WBP1_HUMAN			5	849_850	+			182					B2RE02|O95637	Frame_Shift_Ins	INS	ENST00000233615.2	37	c.646_647insC	CCDS1943.1																																																																																				0.604	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		7	87						7	87	---	---	---	---
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	lincRNA	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1				long intergenic non-protein coding RNA 152																		AAAATAAATTTCCCCCCAGAAC	0.455																																						ENST00000409054.1																			0																																																			112597							g.chr2:87865524_87865525insC	BC009508		2p11.2	2014-02-14	2011-08-11	2011-08-11	ENSG00000222041	ENSG00000222041		"""Long non-coding RNAs"""	28717	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 59"", ""non-protein coding RNA 152"""	C2orf59, NCRNA00152		24523021, 23801869, 22689435, 24036268	Standard	NR_024204		Approved	MGC4677	uc002ssk.4		OTTHUMG00000130273		2.37:g.87865530_87865530dupC								NR_015395.1						0	278	+									RNA	INS	ENST00000409054.1	37																																																																																						0.455	LINC00152-005	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000330387.3	XR_042051		9	375						9	375	---	---	---	---
FER1L5	90342	broad.mit.edu	37	2	97365230	97365231	+	RNA	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:97365230_97365231insG	ENST00000457909.1	+	0	4113							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCGGTGAGGGAGGGGGGCACAG	0.579																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)																																						90342					integral to membrane		g.chr2:97365230_97365231insG	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97365236_97365236dupG										A0AVI2	FR1L5_HUMAN			0	4113	+								Q17RH2|Q6ZU24	RNA	INS	ENST00000457909.1	37																																																																																						0.579	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		7	379						7	379	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)tccfs	p.S241fs	IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.S241fs|IL1R2_ENST00000393414.2_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		8	423						8	423	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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	258						8	258	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133540513	133540514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:133540513_133540514insG	ENST00000409261.1	-	14	4243_4244	c.3870_3871insC	c.(3868-3873)cccatcfs	p.I1291fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.I1291fs|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1291										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GACCCTTCGATGGGGGGCGTAG	0.55																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3868-3873)cctcgafs		NCK-associated protein 5																																				SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133540513_133540514insG	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3871dupC	2.37:g.133540519_133540519dupG	ENSP00000387128:p.Ile1291fs					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.R1291fs|NCKAP5_ENST00000409213.1_Intron	p.R1291fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4243_4244	-			1291					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Ins	INS	ENST00000409261.1	37	c.3870_3871insC	CCDS46418.1																																																																																				0.550	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	265						7	265	---	---	---	---
NR4A2	4929	broad.mit.edu	37	2	157186373	157186374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:157186373_157186374insG	ENST00000339562.4	-	3	687_688	c.325_326insC	c.(325-327)cagfs	p.Q109fs	NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.Q46fs|NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.Q109fs|NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.Q120fs|NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.Q109fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.Q46fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	109	Gln-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Q109fs*3(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTCCTCAGACTGGGGGGGCAGG	0.604																																						ENST00000339562.4																			1	Insertion - Frameshift(1)	p.Q109fs*3(1)	ovary(1)	breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(325-327)gtcfs		nuclear receptor subfamily 4, group A, member 2																																				SO:0001589	frameshift_variant	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186373_157186374insG	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.326dupC	2.37:g.157186380_157186380dupG	ENSP00000344479:p.Gln109fs					NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.V109fs|NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.V109fs|NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.V120fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.V46fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.V46fs	p.V109fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			3	687_688	-			109			Gln-rich.		Q16311|Q53RZ2|Q6NXU0	Frame_Shift_Ins	INS	ENST00000339562.4	37	c.325_326insC	CCDS2201.1																																																																																				0.604	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			9	121						9	121	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)gcafs	p.A749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCTTTACTTGCCCCCCGAAAG	0.485																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Insertion - Frameshift(1)	p.A749fs*3(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2245-2247)aagfs		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)																																			SO:0001589	frameshift_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256860_163256861insC	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2246dupG	2.37:g.163256866_163256866dupC	ENSP00000331727:p.Ala749fs						p.K749fs	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			10	2344_2345	-			749					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Frame_Shift_Ins	INS	ENST00000332142.5	37	c.2245_2246insG	CCDS2219.1																																																																																				0.485	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		8	289						8	289	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs	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_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR	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			12	303						12	303	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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					CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_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		27	582						27	582	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs					ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	p.G559fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		12	511						12	511	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220168477	220168478	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:220168477_220168478insG	ENST00000295718.2	-	4	596_597	c.356_357insC	c.(355-357)ccafs	p.P119fs	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.P29fs|PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.P119fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	119					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACGGGGCTCTGGGGGGCGAAG	0.55																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(355-357)cgafs		protein tyrosine phosphatase, receptor type, N																																				SO:0001589	frameshift_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220168477_220168478insG		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.357dupC	2.37:g.220168483_220168483dupG	ENSP00000295718:p.Pro119fs					PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.R29fs|PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.R119fs|AC114803.3_ENST00000417355.1_RNA	p.R119fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	4	596_597	-		Renal(207;0.0474)	119					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Frame_Shift_Ins	INS	ENST00000295718.2	37	c.356_357insC	CCDS2440.1																																																																																				0.550	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			8	448						8	448	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220502412	220502413	+	Frame_Shift_Ins	INS	-	-	C	rs548755718		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:220502412_220502413insC	ENST00000358055.3	+	17	3157_3158	c.2645_2646insC	c.(2644-2649)ggccccfs	p.GP882fs	SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.GP882fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.GP909fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.GP909fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.GP882fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	882	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCACCGAGGGCCCCCCCAGCC	0.644																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2644-2646)gccfs		solute carrier family 4 (anion exchanger), member 3																																				SO:0001589	frameshift_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220502412_220502413insC		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2652dupC	2.37:g.220502419_220502419dupC	ENSP00000350756:p.Gly882fs					SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.A909fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.A909fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.A882fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.A882fs	p.A882fs			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	3157_3158	+		Renal(207;0.0183)	882			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	ENST00000358055.3	37	c.2645_2646insC	CCDS2445.1																																																																																				0.644	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		8	90						8	90	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-942)tgccccfs	p.CP313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCAGTGCCATGCCCCCCCAAGG	0.619																																						ENST00000272907.6																			0											c.(937-939)tccfs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2																																				SO:0001589	frameshift_variant	57624							g.chr2:226447071_226447072insC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.945dupC	2.37:g.226447078_226447078dupC	ENSP00000272907:p.Cys313fs					NYAP2_ENST00000409269.2_Intron	p.S313fs	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1351_1352	+			313			Pro-rich.		A2RRN4|Q96NL2	Frame_Shift_Ins	INS	ENST00000272907.6	37	c.938_939insC	CCDS46529.1																																																																																				0.619	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		12	162						12	162	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs			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		24	517						24	517	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)tggfs	p.W853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.W809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2557-2559)gggfs		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234365951_234365952insG	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2564dupG	2.37:g.234365958_234365958dupG	ENSP00000264057:p.Trp853fs					DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	p.G853fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	21	2569_2570	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	853					Q14158|Q6PK55|Q8NG53	Frame_Shift_Ins	INS	ENST00000264057.2	37	c.2557_2558insG	CCDS2504.1																																																																																				0.579	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		8	212						8	212	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs	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_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	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	327						15	327	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.V826fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2548-2550)gatfs		SLIT-ROBO Rho GTPase activating protein 3																																				SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034599_9034600insC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2549dupG	3.37:g.9034606_9034606dupC	ENSP00000373347:p.Val850fs					SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	p.D850fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	2975_2976	-			850					Q8IX13|Q8IZV8	Frame_Shift_Ins	INS	ENST00000383836.3	37	c.2548_2549insG	CCDS2572.1																																																																																				0.554	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			12	228						12	228	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10183717	10183725	+	In_Frame_Del	DEL	GCTGCGCTC	GCTGCGCTC	-	rs5030826|rs104893827|rs104893826		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:10183717_10183725delGCTGCGCTC	ENST00000256474.2	+	1	1026_1034	c.186_194delGCTGCGCTC	c.(184-195)gtgctgcgctcg>gtg	p.LRS63del	VHL_ENST00000345392.2_In_Frame_Del_p.LRS63del|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	63			L -> P (in pheochromocytoma). {ECO:0000269|PubMed:9663592}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.S65fs*2(3)|p.V62fs*68(2)|p.E52_S65del(2)|p.L63fs*4(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.S65P(1)|p.L63*(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.G57fs*4(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*70(1)|p.P61fs*61(1)|p.S65A(1)|p.V62fs*3(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCGGCCCGTGCTGCGCTCGGTGAACTCG	0.727		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		50	Substitution - Missense(17)|Deletion - Frameshift(14)|Substitution - Nonsense(11)|Deletion - In frame(4)|Complex - frameshift(2)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.S65fs*2(3)|p.V62fs*68(2)|p.E52_S65del(2)|p.L63fs*4(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.S65P(1)|p.L63*(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.G57fs*4(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*70(1)|p.P61fs*61(1)|p.S65A(1)|p.V62fs*3(1)|p.V62fs*1(1)	kidney(48)|adrenal_gland(1)|soft_tissue(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CD941803|CM020977|CM023992|CM941362|CM941363|CM941364|CM981997|CM981998	VHL	D|M	rs104893826|rs104893827|rs5030826	c.(184-195)gtg>gt		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10183717_10183725delGCTGCGCTC	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.186_194delGCTGCGCTC	3.37:g.10183717_10183725delGCTGCGCTC	ENSP00000256474:p.Leu63_Ser65del					VHL_ENST00000345392.2_In_Frame_Del_p.VLRS62del	p.VLRS62del	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	1	1026_1034	+			62					B2RE45|Q13599|Q6PDA9	In_Frame_Del	DEL	ENST00000256474.2	37	c.186_194delGCTGCGCTC	CCDS2597.1																																																																																				0.727	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		2	4						2	4	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855|rs63751031		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)accfs	p.T495fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.T397fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.T254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.47		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		2	Substitution - Missense(1)|Whole gene deletion(1)	p.T495A(1)|p.0?(1)	ovary(1)|breast(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(1483-1485)cccfs	Mismatch excision repair (MMR)	mutL homolog 1																																				SO:0001589	frameshift_variant	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37070348_37070349insC	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1489dupC	3.37:g.37070354_37070354dupC	ENSP00000231790:p.Thr495fs					MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs	p.P495fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			13	1699_1700	+			495			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Frame_Shift_Ins	INS	ENST00000231790.2	37	c.1483_1484insC	CCDS2663.1																																																																																				0.470	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		9	688						9	688	---	---	---	---
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C	rs374442833		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1432-1434)cccfs	p.P478fs	VILL_ENST00000465644.1_Frame_Shift_Ins_p.P196fs|VILL_ENST00000383759.2_Frame_Shift_Ins_p.P478fs			O15195	VILL_HUMAN	villin-like	478					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594																																						ENST00000283713.6																			1	Insertion - Frameshift(1)	p.H480fs*38(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1429-1434)gaccccfs		villin-like				6,4260		0,6,2127						5.0	1.0			127	3,8251		0,3,4124	no	frameshift	VILL	NM_015873.3		0,9,6251	A1A1,A1R,RR		0.0363,0.1406,0.0719				9,12511				SO:0001589	frameshift_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38043303_38043304insC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1438dupC	3.37:g.38043310_38043310dupC	ENSP00000283713:p.Pro478fs					VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs|VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs	p.DP477fs			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	13	1697_1698	+			477					A8MZP1|Q9BT80|Q9BWH7	Frame_Shift_Ins	INS	ENST00000283713.6	37	c.1431_1432insC	CCDS2670.2																																																																																				0.594	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		7	258						7	258	---	---	---	---
NCKIPSD	51517	broad.mit.edu	37	3	48716892	48716893	+	Splice_Site	INS	-	-	G	rs546326030	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:48716892_48716893insG	ENST00000294129.2	-	9	1609		c.e9-2		NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGGTGGTCTGGGGGGGACAA	0.569																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.e9-2		NCK interacting protein with SH3 domain																																				SO:0001630	splice_region_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48716892_48716893insG	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1490-2->C	3.37:g.48716899_48716899dupG						NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site		NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	9	1609	-								B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Splice_Site	INS	ENST00000294129.2	37		CCDS2776.1																																																																																				0.569	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453	Intron	8	113						8	113	---	---	---	---
RBM15B	29890	broad.mit.edu	37	3	51431352	51431353	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:51431352_51431353insG	ENST00000323686.4	+	1	2622_2623	c.2522_2523insG	c.(2521-2526)gtggggfs	p.VG841fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	841	Interaction with Epstein-Barr virus BMLF1.|SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCTTGCCAGTGGGGGGGTCCA	0.609																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(2521-2523)gggfs		RNA binding motif protein 15B																																				SO:0001589	frameshift_variant	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51431352_51431353insG	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2529dupG	3.37:g.51431359_51431359dupG	ENSP00000313890:p.Val841fs						p.G841fs	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2622_2623	+			841			Interaction with Epstein-Barr virus BMLF1.|SPOC.		A4QPG7|Q6QE19|Q9BV96	Frame_Shift_Ins	INS	ENST00000323686.4	37	c.2522_2523insG	CCDS33764.1																																																																																				0.609	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		7	91						7	91	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52677285	52677285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:52677285delT	ENST00000296302.7	-	9	975	c.974delA	c.(973-975)aatfs	p.N325fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000356770.4_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N325fs			Q86U86	PB1_HUMAN	polybromo 1	325					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCTAGTGGGATTTCTCTCTTC	0.438			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000296302.7				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(973-975)atfs		polybromo 1							181.0	172.0	175.0					3																	52677285		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52677285delT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.974delA	3.37:g.52677285delT	ENSP00000296302:p.Asn325fs					PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000356770.4_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N325fs	p.N325fs			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	9	975	-			325					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.974delA																																																																																					0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		29	86						29	86	---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53220652	53220653	+	Frame_Shift_Ins	INS	-	-	G	rs377107086		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:53220652_53220653insG	ENST00000394729.2	+	13	1621_1622	c.1293_1294insG	c.(1294-1296)gggfs	p.G432fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.G432fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	432	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGTTCCTCAACGGGGGGGACCT	0.604																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1291-1296)aaggggfs		protein kinase C, delta																																				SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220652_53220653insG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1300dupG	3.37:g.53220659_53220659dupG	ENSP00000378217:p.Gly432fs					PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.KG431fs	p.KG431fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	13	1621_1622	+		Ovarian(412;0.0728)	431			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Ins	INS	ENST00000394729.2	37	c.1293_1294insG	CCDS2870.1																																																																																				0.604	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			9	732						9	732	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggafs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(493-495)ggtfs		vestigial like 3 (Drosophila)																																				SO:0001589	frameshift_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018182_87018183insC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.495dupG	3.37:g.87018188_87018188dupC	ENSP00000381436:p.Gly165fs					VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	857_858	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	165						Frame_Shift_Ins	INS	ENST00000398399.2	37	c.494_495insG	CCDS43110.1																																																																																				0.579	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		9	319						9	319	---	---	---	---
CPOX	1371	broad.mit.edu	37	3	98304318	98304319	+	Frame_Shift_Ins	INS	-	-	G	rs201231166		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:98304318_98304319insG	ENST00000264193.2	-	5	1356_1357	c.1138_1139insC	c.(1138-1140)cagfs	p.Q380fs		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	380					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGCTTCTCCTGGGGGGTGAAT	0.5																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16	GRCh37	CD011866	CPOX	D		c.(1138-1140)ggafs		coproporphyrinogen oxidase																																				SO:0001589	frameshift_variant	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304318_98304319insG	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1139dupC	3.37:g.98304324_98304324dupG	ENSP00000264193:p.Gln380fs						p.G380fs	NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN			5	1356_1357	-			380					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Frame_Shift_Ins	INS	ENST00000264193.2	37	c.1138_1139insC	CCDS2932.1																																																																																				0.500	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		8	535						8	535	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108819313	108819314	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:108819313_108819314insT	ENST00000483760.1	-	5	307_308	c.264_265insA	c.(262-267)aaacggfs	p.R89fs	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Frame_Shift_Ins_p.R89fs					MORC family CW-type zinc finger 1									p.R89W(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTGACAGCCGTTTTTTGGATC	0.406																																						ENST00000232603.5																			1	Substitution - Missense(1)	p.R89W(1)	prostate(1)	breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(262-267)aaggctfs		MORC family CW-type zinc finger 1																																				SO:0001589	frameshift_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108819313_108819314insT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.265dupA	3.37:g.108819319_108819319dupT	ENSP00000417282:p.Arg89fs					MORC1_ENST00000483760.1_Frame_Shift_Ins_p.A89fs	p.A89fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			5	346_347	-			89						Frame_Shift_Ins	INS	ENST00000483760.1	37	c.264_265insA																																																																																					0.406	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			7	722						7	722	---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(313-315)gggfs	p.G105fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.G101fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	105					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(310-315)gaggggfs		thyrotropin-releasing hormone																																				SO:0001589	frameshift_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695642_129695643insG		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.319dupG	3.37:g.129695649_129695649dupG	ENSP00000303452:p.Gly105fs					TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	p.EG104fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	839_840	+			104					B2R8R1|Q2TB83	Frame_Shift_Ins	INS	ENST00000302649.3	37	c.312_313insG	CCDS3066.1																																																																																				0.569	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		12	230						12	230	---	---	---	---
ANAPC13	25847	broad.mit.edu	37	3	134197443	134197444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:134197443_134197444insG	ENST00000510994.1	-	3	943_944	c.213_214insC	c.(211-216)cccattfs	p.I72fs	ANAPC13_ENST00000511751.1_Frame_Shift_Ins_p.I72fs|ANAPC13_ENST00000354910.5_Frame_Shift_Ins_p.I72fs|ANAPC13_ENST00000514612.1_Frame_Shift_Ins_p.I72fs	NM_001242374.1	NP_001229303.1	Q9BS18	APC13_HUMAN	anaphase promoting complex subunit 13	72					mitotic nuclear division (GO:0007067)|protein K11-linked ubiquitination (GO:0070979)	anaphase-promoting complex (GO:0005680)				lung(1)|skin(1)	2						CAGTTTCCAATGGGGGGAACAT	0.421																																						ENST00000510994.1																			0				lung(1)|skin(1)	2						c.(211-216)ccttggfs		anaphase promoting complex subunit 13																																				SO:0001589	frameshift_variant	25847				cell division|mitosis|protein K11-linked ubiquitination	anaphase-promoting complex		g.chr3:134197443_134197444insG	AF086169	CCDS3085.1	3q22.1	2011-06-15				ENSG00000129055		"""Anaphase promoting complex subunits"""	24540	protein-coding gene	gene with protein product		614484				15060174	Standard	NM_015391		Approved	SWM1, APC13, DKFZP566D193	uc003eqi.3	Q9BS18		ENST00000510994.1:c.214dupC	3.37:g.134197449_134197449dupG	ENSP00000421842:p.Ile72fs					ANAPC13_ENST00000354910.5_Frame_Shift_Ins_p.W72fs|ANAPC13_ENST00000514612.1_Frame_Shift_Ins_p.W72fs|ANAPC13_ENST00000511751.1_Frame_Shift_Ins_p.W72fs	p.W72fs	NM_001242374.1	NP_001229303.1	Q9BS18	APC13_HUMAN			3	943_944	-			72					Q9Y3V0	Frame_Shift_Ins	INS	ENST00000510994.1	37	c.213_214insC	CCDS3085.1																																																																																				0.421	ANAPC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357412.1	NM_015391		8	276						8	276	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(943-945)gggfs	p.G315fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.G315fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	315										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(940-945)atggggfs		sterile alpha motif domain containing 7																																				SO:0001589	frameshift_variant	344658							g.chr3:169646267_169646268insG	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.948dupG	3.37:g.169646273_169646273dupG	ENSP00000391299:p.Gly315fs					SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		7	1331_1332	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		314						Frame_Shift_Ins	INS	ENST00000428432.2	37	c.942_943insG	CCDS3209.1																																																																																				0.381	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		8	289						8	289	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)accfs	p.T305fs	HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.T320fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.T305fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.T331fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.T290fs|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CACCAGTGGCACCCCCCTCATC	0.54																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(913-915)cccfs		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic																																				SO:0001589	frameshift_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823745_183823746insC	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.919dupC	3.37:g.183823751_183823751dupC	ENSP00000401444:p.Thr305fs					HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs	p.P305fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1379_1380	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		305					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Frame_Shift_Ins	INS	ENST00000415389.2	37	c.913_914insC	CCDS58868.1																																																																																				0.540	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		7	646						7	646	---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G	rs559993367		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccgcafs	p.A145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(430-435)cccagafs		leucine zipper-EF-hand containing transmembrane protein 1																																				SO:0001589	frameshift_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843235_1843236insG	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.433dupC	4.37:g.1843242_1843242dupG	ENSP00000305653:p.Ala145fs						p.R145fs	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	728_729	-			145					B4DED2|Q9UF65	Frame_Shift_Ins	INS	ENST00000302787.2	37	c.432_433insC	CCDS3355.1																																																																																				0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			8	211						8	211	---	---	---	---
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351																																					Colon(86;1802 1843 17863 46794)	ENST00000295256.5																			0				breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(409-414)gggagafs		hematopoietic prostaglandin D synthase	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223320_95223321insC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.412dupG	4.37:g.95223326_95223326dupC	ENSP00000295256:p.Arg138fs						p.R138fs	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN			5	501_502	-			138			GST C-terminal.		Q6FHT9	Frame_Shift_Ins	INS	ENST00000295256.5	37	c.411_412insG	CCDS3640.1																																																																																				0.351	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		12	682						12	682	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1471-1473)agafs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140293_96140294insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs					UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	p.R491fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1819_1820	-		Hepatocellular(203;0.114)	491					Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1471_1472insC	CCDS3643.1																																																																																				0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		19	707						19	707	---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119239601	119239601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:119239601delT	ENST00000296498.3	-	5	1364	c.1082delA	c.(1081-1083)aagfs	p.K361fs		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	361	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGGAGCTCTTTGGACACTG	0.483																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1081-1083)agfs		protease, serine, 12 (neurotrypsin, motopsin)							115.0	109.0	111.0					4																	119239601		2203	4300	6503	SO:0001589	frameshift_variant	8492					membrane	scavenger receptor activity	g.chr4:119239601delT	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1082delA	4.37:g.119239601delT	ENSP00000296498:p.Lys361fs						p.K361fs	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			5	1364	-			361			SRCR 2.		Q9UP16	Frame_Shift_Del	DEL	ENST00000296498.3	37	c.1082delA	CCDS3709.1																																																																																				0.483	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			61	230						61	230	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs						p.G11fs	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			9	232						9	232	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		7	618						7	618	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs					SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		17	1043						17	1043	---	---	---	---
ZSWIM6	57688	broad.mit.edu	37	5	60628441	60628441	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:60628441delC	ENST00000252744.5	+	1	342	c.342delC	c.(340-342)ttcfs	p.F114fs		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	114	Gly-rich.				neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						ATTGGTCCTTCCCCCGCAGCG	0.736																																						ENST00000252744.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						c.(340-342)ttfs		zinc finger, SWIM-type containing 6							7.0	10.0	9.0					5																	60628441		683	1573	2256	SO:0001589	frameshift_variant	57688						zinc ion binding	g.chr5:60628441delC	BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.342delC	5.37:g.60628441delC	ENSP00000252744:p.Phe114fs						p.F114fs	NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN			1	342	+			114			Gly-rich.			Frame_Shift_Del	DEL	ENST00000252744.5	37	c.342delC	CCDS47215.1																																																																																				0.736	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368710.1	NM_020928		2	4						2	4	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71490419	71490420	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:71490419_71490420insA	ENST00000296755.7	+	5	1535_1536	c.1237_1238insA	c.(1237-1239)caafs	p.Q413fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	413					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATTCTTTTCCAAAAAATGGGA	0.401																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1237-1239)aaafs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490419_71490420insA	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1243dupA	5.37:g.71490425_71490425dupA	ENSP00000296755:p.Gln413fs						p.K413fs	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1535_1536	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	413					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.1237_1238insA	CCDS4012.1																																																																																				0.401	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		8	491						8	491	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs						p.T1965fs	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		8	309						8	309	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495243	71495245	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:71495243_71495245delGAA	ENST00000296755.7	+	5	6359_6361	c.6061_6063delGAA	c.(6061-6063)gaadel	p.E2021del		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2021					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCCTGAGTCTGAAGGTTATTCCT	0.463																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6061-6063)del		microtubule-associated protein 1B																																				SO:0001651	inframe_deletion	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495243_71495245delGAA	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6061_6063delGAA	5.37:g.71495243_71495245delGAA	ENSP00000296755:p.Glu2021del						p.E2021del	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6359_6361	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2021					A2BDK5	In_Frame_Del	DEL	ENST00000296755.7	37	c.6061_6063delGAA	CCDS4012.1																																																																																				0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		16	641						16	641	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984683	123984684	+	Frame_Shift_Ins	INS	-	-	C	rs565938874		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		8	214						8	214	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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	247						14	247	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cctfs	p.P1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.P1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				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)	p.P1623P(2)		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)		TGCTATTGACAGGGGGGCATGT	0.505																																						ENST00000508053.1																			2	Substitution - coding silent(2)	p.P1623P(2)	lung(2)	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.(4867-4869)cgtfs		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.chr5:127648336_127648337insG	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.4869dupC	5.37:g.127648342_127648342dupG	ENSP00000424571:p.Pro1623fs					FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs	p.R1623fs			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)	43	5842_5843	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1623			TB 6.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.4868_4869insC	CCDS34222.1																																																																																				0.505	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	955						7	955	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C	rs386134209|rs386134208		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)tccfs	p.S280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.S304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280			S -> F (in CDSP; reduces carnitine transport). {ECO:0000269|PubMed:21922592}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8	GRCh37	CM045438	SLC22A5	M		c.(838-840)cccfs		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)																																			SO:0001589	frameshift_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722730_131722731insC	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.844dupC	5.37:g.131722736_131722736dupC	ENSP00000245407:p.Ser280fs		OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	p.P280fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1059_1060	+		all_cancers(142;0.0751)|Breast(839;0.198)	280					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Frame_Shift_Ins	INS	ENST00000245407.3	37	c.838_839insC	CCDS4154.1																																																																																				0.545	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		13	1073						13	1073	---	---	---	---
FSTL4	23105	broad.mit.edu	37	5	132534816	132534817	+	Frame_Shift_Ins	INS	-	-	C	rs140495211		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:132534816_132534817insC	ENST00000265342.7	-	16	2748_2749	c.2499_2500insG	c.(2497-2502)gggaccfs	p.T834fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T834fs*>9(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCACTGTGGTCCCCCCCTTTA	0.584																																						ENST00000265342.7																			1	Deletion - Frameshift(1)	p.T834fs*>9(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2497-2502)ggccacfs		follistatin-like 4																																				SO:0001589	frameshift_variant	23105					extracellular region	calcium ion binding	g.chr5:132534816_132534817insC	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2500dupG	5.37:g.132534823_132534823dupC	ENSP00000265342:p.Thr834fs					CTB-49A3.2_ENST00000509051.1_RNA	p.H834fs	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2748_2749	-		all_cancers(142;0.244)	834					Q8TBU0|Q9UPU1	Frame_Shift_Ins	INS	ENST00000265342.7	37	c.2499_2500insG	CCDS34238.1																																																																																				0.584	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		8	230						8	230	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(766-768)gggfs	p.G256fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	256					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(763-768)ccggggfs		pleckstrin and Sec7 domain containing 2																																				SO:0001589	frameshift_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193287_139193288insG	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.772dupG	5.37:g.139193294_139193294dupG	ENSP00000274710:p.Gly256fs						p.PG255fs	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	970_971	+			255					D3DQD3|Q8N3J8	Frame_Shift_Ins	INS	ENST00000274710.3	37	c.765_766insG	CCDS4216.1																																																																																				0.614	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		10	243						10	243	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs	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		16	816						16	816	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	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		7	907						7	907	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		13	361						13	361	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:149755744_149755745insC	ENST00000504761.2	+	13	1993_1994	c.1993_1994insC	c.(1993-1995)gccfs	p.A665fs	TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.A588fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240). {ECO:0000269|PubMed:15019983, ECO:0000269|PubMed:8563749, ECO:0000269|PubMed:9074926, ECO:0000269|PubMed:9096354}.		skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1993-1995)cccfs		Treacher Collins-Franceschetti syndrome 1																																				SO:0001589	frameshift_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755744_149755745insC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1999dupC	5.37:g.149755750_149755750dupC	ENSP00000421655:p.Ala665fs					TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs	p.P665fs			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2101_2102	+		all_hematologic(541;0.224)	665		A -> P (in dbSNP:rs2071240).			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	c.1993_1994insC	CCDS54936.1																																																																																				0.584	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		12	506						12	506	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1741-1743)gggfs	p.G581fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	658					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.55																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1738-1743)ccggggfs		La ribonucleoprotein domain family, member 1																																				SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181821_154181822insG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1747dupG	5.37:g.154181828_154181828dupG	ENSP00000336721:p.Gly581fs						p.PG580fs	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1764_1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	657					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Ins	INS	ENST00000336314.4	37	c.1740_1741insG	CCDS4328.1																																																																																				0.550	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		8	407						8	407	---	---	---	---
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C	rs200489390		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)ggtfs	p.G212fs	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_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_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_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		8	199						8	199	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)cccaagfs	p.K274fs	KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.K274fs|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.K255fs	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	274						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|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;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(817-822)ccagatfs		KIAA1191																																				SO:0001589	frameshift_variant	57179						protein binding	g.chr5:175774701_175774702insG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.820dupC	5.37:g.175774707_175774707dupG	ENSP00000298569:p.Lys274fs					KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs	p.D274fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1352_1353	-	all_cancers(89;0.00575)|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)	274					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Ins	INS	ENST00000298569.4	37	c.819_820insC	CCDS4399.1																																																																																				0.579	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		9	509						9	509	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178541085	178541086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr5:178541085_178541086insG	ENST00000251582.7	-	22	3519_3520	c.3418_3419insC	c.(3418-3420)ctgfs	p.L1140fs		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1140					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGGACCTCCAGGGGGGTGCTT	0.569																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(3418-3420)ggafs		ADAM metallopeptidase with thrombospondin type 1 motif, 2																																				SO:0001589	frameshift_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541085_178541086insG	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3419dupC	5.37:g.178541091_178541091dupG	ENSP00000251582:p.Leu1140fs						p.G1140fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3519_3520	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1140						Frame_Shift_Ins	INS	ENST00000251582.7	37	c.3418_3419insC	CCDS4444.1																																																																																				0.569	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		8	571						8	571	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		9	362						9	362	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(310-312)cccfs	p.P104fs	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	43					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584																																						ENST00000379345.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(307-312)ctccccfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13185110_13185111insC	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379345.2:c.315dupC	6.37:g.13185116_13185116dupC	ENSP00000368650:p.Pro104fs					PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron	p.LP103fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	550_551	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	237					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379345.2	37	c.309_310insC																																																																																					0.584	PHACTR1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166420		11	261						11	261	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs					PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs	p.G251fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		23	383						23	383	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:17837307_17837308insC	ENST00000259711.6	-	11	1061_1062	c.956_957insG	c.(955-957)ggcfs	p.G319fs	KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378814.5_Frame_Shift_Ins_p.G319fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.45																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(955-957)gaafs		kinesin family member 13A																																				SO:0001589	frameshift_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17837307_17837308insC	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.957dupG	6.37:g.17837313_17837313dupC	ENSP00000259711:p.Gly319fs					KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs	p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		11	955_956	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	319					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Ins	INS	ENST00000259711.6	37	c.956_957insG	CCDS47381.1																																																																																				0.450	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			13	259						13	259	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C	rs577436927		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(259-261)cccfs	p.P87fs		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485																																						ENST00000378491.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(256-261)gtccccfs		neurensin 1																																				SO:0001589	frameshift_variant	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145844_24145845insC	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.264dupC	6.37:g.24145850_24145850dupC	ENSP00000367752:p.Pro87fs						p.VP86fs	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN			4	559_560	+			86						Frame_Shift_Ins	INS	ENST00000378491.4	37	c.258_259insC	CCDS4549.1																																																																																				0.485	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		11	317						11	317	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		21	1244						21	1244	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs					MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs	p.P70fs			Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		16	376						16	376	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30569931	30569932	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:30569931_30569932insG	ENST00000376511.2	-	19	3046_3047	c.2494_2495insC	c.(2494-2496)cacfs	p.H832fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	832	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						AGGGCCTTCGTGGGGGCGATGT	0.678																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2494-2496)cgafs		protein phosphatase 1, regulatory subunit 10																																				SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30569931_30569932insG	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2495dupC	6.37:g.30569936_30569936dupG	ENSP00000365694:p.His832fs						p.R832fs	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	3046_3047	-			832			Gly-rich.		O00405	Frame_Shift_Ins	INS	ENST00000376511.2	37	c.2494_2495insC	CCDS4681.1																																																																																				0.678	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		7	1360						7	1360	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				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|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs	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_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|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			10	469						10	469	---	---	---	---
GPSM3	63940	broad.mit.edu	37	6	32159157	32159158	+	Frame_Shift_Ins	INS	-	-	G	rs149772913|rs139749211	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:32159157_32159158insG	ENST00000375040.3	-	4	860_861	c.468_469insC	c.(466-471)cccacafs	p.T157fs	GPSM3_ENST00000487761.1_Frame_Shift_Ins_p.T154fs|GPSM3_ENST00000375043.3_Frame_Shift_Ins_p.T157fs|PBX2_ENST00000375050.4_5'Flank	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	157					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						CAGGTGTGTGTGGGGGGCCGGG	0.634																																						ENST00000375040.3																			0				large_intestine(1)	1						c.(466-471)cccacafs		G-protein signaling modulator 3																																				SO:0001589	frameshift_variant	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32159157_32159158insG	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.469dupC	6.37:g.32159163_32159163dupG	ENSP00000364180:p.Thr157fs					GPSM3_ENST00000375043.3_Frame_Shift_Ins_p.T157fs|GPSM3_ENST00000487761.1_Frame_Shift_Ins_p.T154fs	p.T157fs	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN			4	860_861	-			157					A2BFJ3	Frame_Shift_Ins	INS	ENST00000375040.3	37	c.468_469insC	CCDS34419.1																																																																																				0.634	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107		9	705						9	705	---	---	---	---
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	De_novo_Start_OutOfFrame	INS	-	-	AT	rs17204758	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.54										Multiple Myeloma(14;0.17)																												ENST00000360004.5																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10								major histocompatibility complex, class II, DR beta 1																																						3123							g.chr6:32557568_32557569insAT	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.-50->AT	6.37:g.32557568_32557569insAT		Multiple Myeloma(14;0.17)						NM_002124.3	NP_002115.2					0	56_57	-								P01914|Q9MYF5	Translation_Start_Site	INS	ENST00000360004.5	37		CCDS47409.1																																																																																				0.540	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		4	9						4	9	---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:32948228_32948229insC	ENST00000374825.4	+	12	3957_3958	c.2256_2257insC	c.(2257-2259)cccfs	p.P753fs	BRD2_ENST00000395287.1_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.P706fs|BRD2_ENST00000395289.2_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.P633fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.P753fs	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_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs	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			8	230						8	230	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(295-297)cccfs	p.P99fs	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.P99fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	99							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(292-297)cgccccfs		UHRF1 binding protein 1																																				SO:0001589	frameshift_variant	54887							g.chr6:34791081_34791082insC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.300dupC	6.37:g.34791087_34791087dupC	ENSP00000192788:p.Pro99fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			4	465_466	+			98					Q9NXE0	Frame_Shift_Ins	INS	ENST00000192788.5	37	c.294_295insC	CCDS43455.1																																																																																				0.446	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		14	1136						14	1136	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50805703	50805704	+	Frame_Shift_Ins	INS	-	-	G	rs34365845|rs143212621		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:50805703_50805704insG	ENST00000393655.3	+	5	1006_1007	c.837_838insG	c.(838-840)gggfs	p.G280fs	TFAP2B_ENST00000263046.4_Frame_Shift_Ins_p.G289fs	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	280					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AATCGAAAAATGGGGGGAGATC	0.436																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(862-867)aaggggfs		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)																																				SO:0001589	frameshift_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50805703_50805704insG	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.843dupG	6.37:g.50805709_50805709dupG	ENSP00000377265:p.Gly280fs					TFAP2B_ENST00000393655.3_Frame_Shift_Ins_p.KG279fs	p.KG288fs			Q92481	AP2B_HUMAN			6	1030_1031	+	Lung NSC(77;0.156)		279					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Frame_Shift_Ins	INS	ENST00000393655.3	37	c.864_865insG	CCDS4934.2																																																																																				0.436	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		8	197						8	197	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(25-27)cccfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039410_55039411insC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.32dupC	6.37:g.55039417_55039417dupC	ENSP00000359899:p.Ser9fs						p.P9fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	361_362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.25_26insC	CCDS4956.1																																																																																				0.564	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			12	327						12	327	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		22	954						22	954	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-	rs568155311		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr6:146755630_146755632delGAC	ENST00000282753.1	+	8	3518_3520	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.D1099del|GRM1_ENST00000355289.4_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCGCCCGCGGACGACGACGACG	0.65																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3283-3285)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755630_146755632delGAC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3283_3285delGAC	6.37:g.146755639_146755641delGAC	ENSP00000282753:p.Asp1099del					GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR	p.D1099del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3753_3755	+		Ovarian(120;0.0387)	1099			Asp/Glu-rich (acidic).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3283_3285delGAC	CCDS5209.1																																																																																				0.650	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	545						7	545	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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			11	143						11	143	---	---	---	---
C7orf57	136288	broad.mit.edu	37	7	48089565	48089566	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:48089565_48089566insC	ENST00000348904.3	+	6	808_809	c.596_597insC	c.(595-600)ttccccfs	p.FP199fs	C7orf57_ENST00000435376.1_Frame_Shift_Ins_p.FP77fs|C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.FP199fs|C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.FP244fs|C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.FP244fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	199										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGACTCTCCTTCCCCCCCGTGT	0.55																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(595-597)tccfs		chromosome 7 open reading frame 57																																				SO:0001589	frameshift_variant	136288							g.chr7:48089565_48089566insC	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.603dupC	7.37:g.48089572_48089572dupC	ENSP00000335500:p.Phe199fs					C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.S199fs|C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.S244fs|C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.S244fs|C7orf57_ENST00000435376.1_Frame_Shift_Ins_p.S77fs	p.S199fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			6	808_809	+			199					C9JBJ8	Frame_Shift_Ins	INS	ENST00000348904.3	37	c.596_597insC	CCDS47583.1																																																																																				0.550	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		8	245						8	245	---	---	---	---
LIMK1	3984	broad.mit.edu	37	7	73535322	73535323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:73535322_73535323insC	ENST00000336180.2	+	15	1775_1776	c.1724_1725insC	c.(1723-1728)tgccccfs	p.CP575fs	LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.CP541fs|LIMK1_ENST00000418310.1_Frame_Shift_Ins_p.CP605fs	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_ENST00000538333.3_Frame_Shift_Ins_p.S541fs|LIMK1_ENST00000336180.2_Frame_Shift_Ins_p.S575fs	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		9	239						9	239	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73731900	73731901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:73731900_73731901insC	ENST00000395060.1	+	1	24_25	c.24_25insC	c.(25-27)cccfs	p.P9fs	CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.P9fs|CLIP2_ENST00000223398.6_Frame_Shift_Ins_p.P9fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	9						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCGGCCTGAAGCCCCCCGGCCG	0.668																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(22-27)aaccccfs		CAP-GLY domain containing linker protein 2																																				SO:0001589	frameshift_variant	7461					microtubule associated complex		g.chr7:73731900_73731901insC	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.30dupC	7.37:g.73731906_73731906dupC	ENSP00000378500:p.Pro9fs					CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.NP8fs|CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.NP8fs	p.NP8fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			2	351_352	+			8					O14527|O43611	Frame_Shift_Ins	INS	ENST00000395060.1	37	c.24_25insC	CCDS5569.1																																																																																				0.668	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		8	216						8	216	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs	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		17	296						17	296	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1005)agccccfs	p.SP334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1000-1002)accfs		speedy/RINGO cell cycle regulator family member E3																																				SO:0001589	frameshift_variant	441272							g.chr7:99912173_99912174insC	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1007dupC	7.37:g.99912179_99912179dupC	ENSP00000329565:p.Ser334fs					SPDYE3_ENST00000437326.2_5'UTR	p.T334fs	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			6	1185_1186	+			334					Q495Y9|Q6PHC4	Frame_Shift_Ins	INS	ENST00000332397.6	37	c.1001_1002insC	CCDS47658.2																																																																																				0.569	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		11	465						11	465	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:100479331_100479332insG	ENST00000347433.4	+	4	461_462	c.303_304insG	c.(304-306)gggfs	p.G102fs	SRRT_ENST00000388793.4_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.G102fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	102					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609																																						ENST00000388793.4																			1	Deletion - Frameshift(1)	p.G104fs*45(1)	ovary(1)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(301-306)gcggggfs		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001589	frameshift_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479331_100479332insG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.311dupG	7.37:g.100479339_100479339dupG	ENSP00000314491:p.Gly102fs					SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs	p.AG101fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			4	523_524	+			101					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Ins	INS	ENST00000347433.4	37	c.303_304insG	CCDS34709.1																																																																																				0.609	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		12	197						12	197	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		9	185						9	185	---	---	---	---
NAT16	375607	broad.mit.edu	37	7	100817873	100817874	+	Frame_Shift_Ins	INS	-	-	C	rs554248246|rs201666132	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:100817873_100817874insC	ENST00000300303.2	-	2	453_454	c.215_216insG	c.(214-216)ggcfs	p.G72fs	NAT16_ENST00000455377.1_Frame_Shift_Ins_p.G72fs|NAT16_ENST00000443096.1_Frame_Shift_Ins_p.G72fs	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	72	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										CGCCGTAGATGCCCCCCGAGAT	0.678																																						ENST00000300303.2																			0											c.(214-216)gatfs		N-acetyltransferase 16 (GCN5-related, putative)				0,4264		0,0,2132						3.7	0.0			54	1,8253		0,1,4126	no	frameshift	C7orf52	NM_198571.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	375607						N-acetyltransferase activity	g.chr7:100817873_100817874insC	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.216dupG	7.37:g.100817879_100817879dupC	ENSP00000300303:p.Gly72fs					NAT16_ENST00000443096.1_Frame_Shift_Ins_p.D72fs|NAT16_ENST00000455377.1_Frame_Shift_Ins_p.D72fs	p.D72fs	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN			2	453_454	-			72			N-acetyltransferase.		B3KRS2|Q8NDR1	Frame_Shift_Ins	INS	ENST00000300303.2	37	c.215_216insG	CCDS5713.1																																																																																				0.678	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		9	251						9	251	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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			13	106						13	106	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.52																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3379-3384)aaccccfs		coiled-coil domain containing 136																																				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128457829_128457830insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3387dupC	7.37:g.128457835_128457835dupC	ENSP00000297788:p.Pro1128fs					CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs	p.NP1127fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			17	3748_3749	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.3381_3382insC	CCDS47704.1																																																																																				0.520	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		8	1560						8	1560	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)gggccafs	p.P424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1267-1272)ggcattfs		transient receptor potential cation channel, subfamily V, member 5				0,4264		0,0,2132						4.4	0.1			148	2,8252		0,2,4125	no	frameshift	TRPV5	NM_019841.4		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612493_142612494insC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1270dupG	7.37:g.142612499_142612499dupC	ENSP00000265310:p.Pro424fs						p.I424fs	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			10	1617_1618	-	Melanoma(164;0.059)		424					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Ins	INS	ENST00000265310.1	37	c.1269_1270insG	CCDS5875.1																																																																																				0.505	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		11	610						11	610	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr7:150814456_150814457insG	ENST00000463381.1	+	4	290		c.e4-1		AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000397238.2_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3						cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCTGTCCTAGGGGGGCGGTT	0.579																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.e4-1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3																																				SO:0001630	splice_region_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150814456_150814457insG	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.-206-1->G	7.37:g.150814462_150814462dupG						AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000463381.1_Splice_Site		NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			4	478	+								B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Splice_Site	INS	ENST00000463381.1	37																																																																																						0.579	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	Intron	7	490						7	490	---	---	---	---
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1681-1683)cccfs	p.P561fs	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.P525fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.P525fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	561					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(1678-1683)gcccccfs		dihydropyrimidinase-like 2																																				SO:0001589	frameshift_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26513183_26513184insC	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1686dupC	8.37:g.26513189_26513189dupC	ENSP00000309539:p.Pro561fs		OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	787	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs	p.AP560fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	14	2092_2093	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	560					A8K5H2|B4DR31|D3DSS7|O00424	Frame_Shift_Ins	INS	ENST00000311151.5	37	c.1680_1681insC	CCDS6051.1																																																																																				0.644	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		13	644						13	644	---	---	---	---
SCARA5	286133	broad.mit.edu	37	8	27729503	27729504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:27729503_27729504insC	ENST00000354914.3	-	9	1920_1921	c.1435_1436insG	c.(1435-1437)gtgfs	p.V479fs	SCARA5_ENST00000380385.2_Frame_Shift_Ins_p.V254fs	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	479	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ACAGTTTGTCACCCCCCATTTG	0.569																																						ENST00000354914.3																			0				central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(1435-1437)gacfs		scavenger receptor class A, member 5 (putative)																																				SO:0001589	frameshift_variant	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27729503_27729504insC	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1436dupG	8.37:g.27729509_27729509dupC	ENSP00000346990:p.Val479fs					SCARA5_ENST00000380385.2_Frame_Shift_Ins_p.D254fs	p.D479fs	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	9	1920_1921	-		Ovarian(32;0.0218)	479			SRCR.		Q6UXZ1|Q7Z4A1|Q8N4Z7	Frame_Shift_Ins	INS	ENST00000354914.3	37	c.1435_1436insG	CCDS6064.1																																																																																				0.569	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		9	442						9	442	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	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_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	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		7	148						7	148	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G	rs201774043		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(217-219)gggfs	p.G73fs	SULF1_ENST00000458141.2_Frame_Shift_Ins_p.G73fs|SULF1_ENST00000402687.4_Frame_Shift_Ins_p.G73fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.G73fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	73					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(214-219)caggggfs		sulfatase 1																																				SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70488248_70488249insG	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.223dupG	8.37:g.70488255_70488255dupG	ENSP00000260128:p.Gly73fs					SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs	p.QG72fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		6	933_934	+	Breast(64;0.0654)		72					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Ins	INS	ENST00000260128.4	37	c.216_217insG	CCDS6204.1																																																																																				0.495	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		8	125						8	125	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139263192	139263193	+	Frame_Shift_Ins	INS	-	-	G	rs538422547		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr8:139263192_139263193insG	ENST00000395297.1	-	6	603_604	c.433_434insC	c.(433-435)cggfs	p.R145fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	145								p.R145Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGACCATTCCGGGGGTGGAAG	0.599										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - Missense(2)	p.R145Q(2)	endometrium(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(433-435)gaafs		family with sequence similarity 135, member B																																				SO:0001589	frameshift_variant	51059							g.chr8:139263192_139263193insG	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.434dupC	8.37:g.139263197_139263197dupG	ENSP00000378710:p.Arg145fs	HNSCC(54;0.14)					p.E145fs	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		6	603_604	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		145					B5MDB3|O95879|Q2WGJ7|Q3KP46	Frame_Shift_Ins	INS	ENST00000395297.1	37	c.433_434insC	CCDS6375.2																																																																																				0.599	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		7	947						7	947	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18680349	18680350	+	Frame_Shift_Ins	INS	-	-	G	rs199787607		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:18680349_18680350insG	ENST00000380548.4	+	11	1515_1516	c.1176_1177insG	c.(1177-1179)gggfs	p.G393fs	ADAMTSL1_ENST00000380566.4_Frame_Shift_Ins_p.G376fs|ADAMTSL1_ENST00000276935.6_Frame_Shift_Ins_p.G393fs|ADAMTSL1_ENST00000327883.7_Frame_Shift_Ins_p.G393fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	393	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCCTCGTGTGGGGGGGGCAT	0.584																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1174-1179)tgggggfs		ADAMTS-like 1			,	29,4235		0,29,2103					,	6.2	1.0			48	21,8233		0,21,4106	no	frameshift,frameshift	ADAMTSL1	NM_052866.4,NM_001040272.5	,	0,50,6209	A1A1,A1R,RR		0.2544,0.6801,0.3994	,	,		50,12468				SO:0001589	frameshift_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18680349_18680350insG	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1184dupG	9.37:g.18680357_18680357dupG	ENSP00000369921:p.Gly393fs					ADAMTSL1_ENST00000276935.6_Frame_Shift_Ins_p.WG392fs|ADAMTSL1_ENST00000327883.7_Frame_Shift_Ins_p.WG392fs|ADAMTSL1_ENST00000380566.4_Frame_Shift_Ins_p.WG375fs	p.WG392fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	11	1515_1516	+			392			TSP type-1 2.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Ins	INS	ENST00000380548.4	37	c.1176_1177insG	CCDS47954.1																																																																																				0.584	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			11	52						11	52	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4116_4117insC	c.(4117-4119)ccc>Cccc	p.P1373fs	ADAMTSL1_ENST00000380545.5_Splice_Site_p.P74fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1373						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAGT	0.564																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.e23-1		ADAMTS-like 1																																				SO:0001630	splice_region_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18829842_18829843insC	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4115-1->C	9.37:g.18829849_18829849dupC						ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	p.DP1372_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	23	4455_4456	+			1372					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Splice_Site	INS	ENST00000380548.4	37	c.4114_splice	CCDS47954.1																																																																																				0.564	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		Frame_Shift_Ins	14	279						14	279	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2227-2229)gggfs	p.G743fs	TEK_ENST00000406359.4_Frame_Shift_Ins_p.G700fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.G596fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	743					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CGGACCTCGGAGGGGGGAAGAT	0.51																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2224-2229)ggggggfs		TEK tyrosine kinase, endothelial																																				SO:0001589	frameshift_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27204925_27204926insG	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2232dupG	9.37:g.27204931_27204931dupG	ENSP00000369375:p.Gly743fs					TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs	p.GG742fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	14	2668_2669	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	742					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Ins	INS	ENST00000380036.4	37	c.2226_2227insG	CCDS6519.1																																																																																				0.510	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			7	426						7	426	---	---	---	---
AQP7	364	broad.mit.edu	37	9	33385689	33385690	+	Frame_Shift_Ins	INS	-	-	G	rs369644615|rs3215969|rs139024279		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:33385689_33385690insG	ENST00000537089.1	-	6	742_743	c.424_425insC	c.(424-426)cgcfs	p.R142fs	AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs|AQP7_ENST00000539936.1_Frame_Shift_Ins_p.R234fs|AQP7_ENST00000377425.4_Frame_Shift_Ins_p.R177fs			O14520	AQP7_HUMAN	aquaporin 7	234					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.R234fs*35(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGTGAAGATGCGGGGGGGCAGG	0.579																																						ENST00000537089.1																			1	Insertion - Frameshift(1)	p.R234fs*35(1)	lung(1)	NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(424-426)catfs		aquaporin 7																																				SO:0001589	frameshift_variant	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385689_33385690insG	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.425dupC	9.37:g.33385696_33385696dupG	ENSP00000441619:p.Arg142fs					AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs|AQP7_ENST00000377425.4_Frame_Shift_Ins_p.H177fs|AQP7_ENST00000539936.1_Frame_Shift_Ins_p.H234fs	p.H142fs			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	6	742_743	-			234					Q08E94|Q5T5L9|Q8NHM3	Frame_Shift_Ins	INS	ENST00000537089.1	37	c.424_425insC																																																																																					0.579	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170		10	513						10	513	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35045128	35045129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:35045128_35045129insC	ENST00000312292.5	+	2	2549_2550	c.2502_2503insC	c.(2503-2505)cccfs	p.P835fs	C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.P787fs|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.P762fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	835										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCAGATTTATCCCCCCAATCC	0.54																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2500-2505)taccccfs		chromosome 9 open reading frame 131																																				SO:0001589	frameshift_variant	138724							g.chr9:35045128_35045129insC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2508dupC	9.37:g.35045134_35045134dupC	ENSP00000308279:p.Pro835fs					C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.YP786fs|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.YP761fs	p.YP834fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2549_2550	+	all_epithelial(49;0.22)		834					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Ins	INS	ENST00000312292.5	37	c.2502_2503insC	CCDS6572.2																																																																																				0.540	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		8	1697						8	1697	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs|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_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000298004.5_Intron	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		24	350						24	350	---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35608959	35608960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:35608959_35608960insC	ENST00000336395.5	+	10	1351_1352	c.1101_1102insC	c.(1102-1104)cccfs	p.P368fs	TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	368					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGAATCACCCCCCAACTG	0.609																																						ENST00000336395.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1099-1104)tcccccfs		testis-specific kinase 1																																				SO:0001589	frameshift_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35608959_35608960insC	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1107dupC	9.37:g.35608965_35608965dupC	ENSP00000338127:p.Pro368fs					TESK1_ENST00000498522.1_3'UTR	p.SP367fs	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1351_1352	+			367					Q8IXZ8	Frame_Shift_Ins	INS	ENST00000336395.5	37	c.1101_1102insC	CCDS6580.1																																																																																				0.609	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		9	251						9	251	---	---	---	---
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:95649123_95649124insC	ENST00000446878.1	+	0	1719				ANKRD19P_ENST00000473204.1_RNA																							GCAATCTAGCACCCCCCAAAAG	0.54																																						ENST00000473204.1																			0																																																			138649							g.chr9:95649123_95649124insC																													9.37:g.95649129_95649129dupC														0	2259	+									RNA	INS	ENST00000446878.1	37																																																																																						0.540	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000316907.1			10	397						10	397	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:100082417_100082418insC	ENST00000357054.1	+	25	2573_2574	c.1638_1639insC	c.(1639-1641)cccfs	p.P547fs	CCDC180_ENST00000375202.2_Frame_Shift_Ins_p.P408fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.P405fs|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.P507fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_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_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|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		13	490						13	490	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		9	339						9	339	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5412)ttggggfs	p.LG1803fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.LG1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.LG648fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.55																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5407-5409)tggfs		zinc finger protein 462																																				SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691601_109691602insG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5414dupG	9.37:g.109691607_109691607dupG	ENSP00000277225:p.Leu1803fs					ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs	p.W1803fs			Q96JM2	ZN462_HUMAN			3	5697_5698	+			1803					Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	c.5408_5409insG	CCDS35096.1																																																																																				0.550	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		7	473						7	473	---	---	---	---
HDHD3	81932	broad.mit.edu	37	9	116136194	116136195	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:116136194_116136195insC	ENST00000238379.5	-	2	1337_1338	c.440_441insG	c.(439-441)ggcfs	p.G147fs	HDHD3_ENST00000374180.3_Frame_Shift_Ins_p.G147fs|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	147						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						GCAGGCCAAGGCCCCCCAGGAT	0.639																																						ENST00000238379.5																			0				large_intestine(2)|liver(1)	3						c.(439-441)gctfs		haloacid dehalogenase-like hydrolase domain containing 3																																				SO:0001589	frameshift_variant	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136194_116136195insC	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.441dupG	9.37:g.116136200_116136200dupC	ENSP00000238379:p.Gly147fs					HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Frame_Shift_Ins_p.A147fs	p.A147fs	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN			2	1337_1338	-			147					B2RD47	Frame_Shift_Ins	INS	ENST00000238379.5	37	c.440_441insG	CCDS6793.1																																																																																				0.639	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		7	774						7	774	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)gccfs	p.A678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2032-2034)cccfs		pregnancy-associated plasma protein A, pappalysin 1																																				SO:0001589	frameshift_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982329_118982330insC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2038dupC	9.37:g.118982335_118982335dupC	ENSP00000330658:p.Ala678fs					PAPPA_ENST00000534838.1_Intron	p.P678fs	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			5	2401_2402	+			678					B1AMF9|Q08371|Q68G52|Q9UDK7	Frame_Shift_Ins	INS	ENST00000328252.3	37	c.2032_2033insC	CCDS6813.1																																																																																				0.574	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		10	638						10	638	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131864813	131864814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:131864813_131864814insC	ENST00000318080.2	-	5	789_790	c.495_496insG	c.(493-498)gggaagfs	p.K166fs	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	166					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CACAGTGGCTTCCCCCCCAGGT	0.609																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(493-498)ggagccfs		carnitine O-acetyltransferase	L-Carnitine(DB00583)																																			SO:0001589	frameshift_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864813_131864814insC	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.496dupG	9.37:g.131864820_131864820dupC	ENSP00000315013:p.Lys166fs					CRAT_ENST00000464290.1_5'UTR	p.A166fs	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	5	789_790	-			166					Q5T952|Q9BW16	Frame_Shift_Ins	INS	ENST00000318080.2	37	c.495_496insG	CCDS6919.1																																																																																				0.609	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			7	297						7	297	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)gccfs	p.A1376fs	NUP214_ENST00000483497.2_Frame_Shift_Ins_p.A202fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.A1377fs|NUP214_ENST00000465486.2_3'UTR|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_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000465486.2_3'UTR	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	103						7	103	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		16	262						16	262	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15262984	15262985	+	Frame_Shift_Ins	INS	-	-	G	rs554506784		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:15262984_15262985insG	ENST00000378116.4	-	6	835_836	c.829_830insC	c.(829-831)cagfs	p.Q277fs	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	277						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTACCCCAACTGGGGGGCAATG	0.564																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(829-831)gttfs		family with sequence similarity 171, member A1																																				SO:0001589	frameshift_variant	221061					integral to membrane		g.chr10:15262984_15262985insG	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.830dupC	10.37:g.15262990_15262990dupG	ENSP00000367356:p.Gln277fs					FAM171A1_ENST00000477161.1_5'UTR	p.V277fs	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			6	835_836	-			277					D3DRT9|Q32M49|Q8N4I0	Frame_Shift_Ins	INS	ENST00000378116.4	37	c.829_830insC	CCDS31154.1																																																																																				0.564	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		10	563						10	563	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.52																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51821327_51821328insG																													10.37:g.51821333_51821333dupG								NR_038275.1						0	1306_1307	-									RNA	INS	ENST00000456967.1	37																																																																																						0.520	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			10	359						10	359	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron	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	34	612						34	612	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1719)caccccfs	p.HP572fs	CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.HP572fs|CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.HP276fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.51																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1714-1716)cccfs		cadherin-related family member 1																																				SO:0001589	frameshift_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972096_85972097insC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1721dupC	10.37:g.85972102_85972102dupC	ENSP00000361189:p.His572fs					CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs	p.P572fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			15	1818_1819	+			572			Cadherin 5.		Q69YZ8|Q8IXY5	Frame_Shift_Ins	INS	ENST00000372117.3	37	c.1715_1716insC	CCDS7372.1																																																																																				0.510	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		9	701						9	701	---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:93272060_93272061insC	ENST00000298068.5	+	21	2344_2345	c.2250_2251insC	c.(2251-2253)cccfs	p.P751fs	HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.P340fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.P401fs|HECTD2_ENST00000446394.1_Frame_Shift_Ins_p.P755fs	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	751	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(2260-2265)ctccccfs		HECT domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93272060_93272061insC	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2256dupC	10.37:g.93272066_93272066dupC	ENSP00000298068:p.Pro751fs					HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs	p.LP754fs			Q5U5R9	HECD2_HUMAN			22	2362_2363	+			750			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Frame_Shift_Ins	INS	ENST00000298068.5	37	c.2262_2263insC	CCDS7414.1																																																																																				0.356	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			10	312						10	312	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		13	789						13	789	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G	rs372919677		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)cccaaafs	p.K382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.K382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.49																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1141-1146)ccaatgfs		SEC31 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265153_102265154insG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1144dupC	10.37:g.102265159_102265159dupG	ENSP00000359370:p.Lys382fs					SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1240_1241	-		Colorectal(252;0.117)	382					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Frame_Shift_Ins	INS	ENST00000370345.3	37	c.1143_1144insC	CCDS7495.1																																																																																				0.490	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		8	597						8	597	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102509528	102509529	+	Frame_Shift_Ins	INS	-	-	G	rs75462234|rs77453353		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:102509528_102509529insG	ENST00000428433.1	+	2	619_620	c.69_70insG	c.(70-72)gggfs	p.G24fs	PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000370296.2_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.G23fs|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.G24fs	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_ENST00000361791.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.LG22fs|PAX2_ENST00000428433.1_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.LG23fs	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	131						8	131	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1771-1776)gaccccfs		beta-transducin repeat containing E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103310572_103310573insC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1780dupC	10.37:g.103310579_103310579dupC	ENSP00000359206:p.Pro592fs					BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	p.DP591fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	14	1891_1892	+		Colorectal(252;0.234)	591					B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Ins	INS	ENST00000370187.3	37	c.1773_1774insC	CCDS7512.1																																																																																				0.431	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		8	293						8	293	---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123310878	123310879	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:123310878_123310879insC	ENST00000358487.5	-	5	821_822	c.549_550insG	c.(547-552)gggaacfs	p.N184fs	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000351936.6_Frame_Shift_Ins_p.N184fs|FGFR2_ENST00000369059.1_Frame_Shift_Ins_p.N69fs|FGFR2_ENST00000369060.4_Frame_Shift_Ins_p.N184fs|FGFR2_ENST00000369056.1_Frame_Shift_Ins_p.N184fs|FGFR2_ENST00000356226.4_Frame_Shift_Ins_p.N69fs|FGFR2_ENST00000346997.2_Frame_Shift_Ins_p.N184fs|FGFR2_ENST00000359354.2_Frame_Shift_Ins_p.N184fs|FGFR2_ENST00000369061.4_Frame_Shift_Ins_p.N184fs|FGFR2_ENST00000357555.5_Frame_Shift_Ins_p.N95fs|FGFR2_ENST00000360144.3_Frame_Shift_Ins_p.N95fs|FGFR2_ENST00000457416.2_Frame_Shift_Ins_p.N184fs	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	184	Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GGCATTGGGTTCCCCCCGGCTG	0.525		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(547-552)ggacccfs		fibroblast growth factor receptor 2	Palifermin(DB00039)																																			SO:0001589	frameshift_variant	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123310878_123310879insC	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.550dupG	10.37:g.123310884_123310884dupC	ENSP00000351276:p.Asn184fs					FGFR2_ENST00000357555.5_Frame_Shift_Ins_p.P95fs|FGFR2_ENST00000360144.3_Frame_Shift_Ins_p.P95fs|FGFR2_ENST00000359354.2_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000369059.1_Frame_Shift_Ins_p.P69fs|FGFR2_ENST00000457416.2_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000346997.2_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000356226.4_Frame_Shift_Ins_p.P69fs|FGFR2_ENST00000369056.1_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000351936.6_Frame_Shift_Ins_p.P184fs|FGFR2_ENST00000369060.4_Frame_Shift_Ins_p.P184fs	p.P184fs	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	5	821_822	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	184			Ig-like C2-type 2.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Frame_Shift_Ins	INS	ENST00000358487.5	37	c.549_550insG	CCDS31298.1																																																																																				0.525	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		10	213						10	213	---	---	---	---
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	lincRNA	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114									long intergenic non-protein coding RNA 959																		CTTTGCCTCCAGGGGGGGAAGG	0.53																																						ENST00000456581.1																			0																																																			387723							g.chr10:131905959_131905960insG			10q26.3	2013-06-06			ENSG00000237489	ENSG00000237489		"""Long non-coding RNAs"""	48677	non-coding RNA	RNA, long non-coding							Standard	NR_034125		Approved				OTTHUMG00000019268		10.37:g.131905966_131905966dupG														0	114	-									RNA	INS	ENST00000456581.1	37																																																																																						0.530	LINC00959-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051025.1			8	191						8	191	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs188153920|rs143767864	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)cggfs	p.R235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.R235Q(1)	urinary_tract(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(703-705)gagfs		dachsous cadherin-related 1				14,4250		0,14,2118						4.7	0.9			101	0,8254		0,0,4127	no	frameshift	DCHS1	NM_003737.2		0,14,6245	A1A1,A1R,RR		0.0,0.3283,0.1118				14,12504				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662141_6662142insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.704dupC	11.37:g.6662148_6662148dupG	ENSP00000299441:p.Arg235fs						p.E235fs	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114_1115	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	235			Cadherin 2.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.703_704insC	CCDS7771.1																																																																																				0.589	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		14	335						14	335	---	---	---	---
HPS5	11234	broad.mit.edu	37	11	18303689	18303690	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:18303689_18303690insG	ENST00000349215.3	-	22	3413_3414	c.3136_3137insC	c.(3136-3138)cagfs	p.Q1046fs	HPS5_ENST00000537258.1_Frame_Shift_Ins_p.Q153fs|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000396253.3_Frame_Shift_Ins_p.Q932fs|HPS5_ENST00000438420.2_Frame_Shift_Ins_p.Q932fs	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1046					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGTGACTCCTGGGGGGCTGGC	0.554									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(2794-2796)ggafs		Hermansky-Pudlak syndrome 5																																				SO:0001589	frameshift_variant	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18303689_18303690insG	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3137dupC	11.37:g.18303695_18303695dupG	ENSP00000265967:p.Gln1046fs					HPS5_ENST00000438420.2_Frame_Shift_Ins_p.G932fs|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Frame_Shift_Ins_p.G1046fs|HPS5_ENST00000537258.1_Frame_Shift_Ins_p.G153fs	p.G932fs	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			21	3256_3257	-			1046					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Frame_Shift_Ins	INS	ENST00000349215.3	37	c.2794_2795insC	CCDS7836.1																																																																																				0.554	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		7	211						7	211	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)gaafs	p.E202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.E219fs	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.45																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(604-606)aacfs		APAF1 interacting protein																																				SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34904908_34904909insC	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.605dupG	11.37:g.34904914_34904914dupC	ENSP00000379133:p.Glu202fs					APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	p.N202fs	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		6	818_819	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	202						Frame_Shift_Ins	INS	ENST00000395787.3	37	c.604_605insG	CCDS7895.1																																																																																				0.450	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		11	638						11	638	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gacfs		peptidase domain containing associated with muscle regeneration 1																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR	p.D101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747_748	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		39	1044						39	1044	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346881	48346882	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:48346881_48346882insT	ENST00000319856.4	+	1	410_411	c.389_390insT	c.(388-393)cattttfs	p.HF130fs		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTGGAGCTCATTTTTTGGGAG	0.46																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(388-390)cttfs		olfactory receptor, family 4, subfamily C, member 3																																				SO:0001589	frameshift_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346881_48346882insT	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.395dupT	11.37:g.48346887_48346887dupT	ENSP00000321419:p.His130fs						p.L130fs	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	410_411	+			103					B2RNF2|Q6IFB3	Frame_Shift_Ins	INS	ENST00000319856.4	37	c.389_390insT	CCDS31489.1																																																																																				0.460	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		7	1659						7	1659	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G	rs548830763		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:61183884_61183885insG	ENST00000394888.4	-	6	829_830	c.657_658insC	c.(655-660)cccagtfs	p.S220fs	CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000340437.4_Frame_Shift_Ins_p.S263fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(784-789)ccgtgtfs		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001589	frameshift_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183884_61183885insG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.658dupC	11.37:g.61183890_61183890dupG	ENSP00000378352:p.Ser220fs					CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs	p.C263fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			6	866_867	-			220			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Ins	INS	ENST00000394888.4	37	c.786_787insC	CCDS44619.1																																																																																				0.594	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		8	764						8	764	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000278893.7_Intron			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					BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|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		23	258						23	258	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs			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_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|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			11	334						11	334	---	---	---	---
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)ggcfs	p.G132fs	ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.G132fs|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						AGGGGTTCTTGCCCCCCAGCTC	0.644																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(394-396)gaafs		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)																																			SO:0001589	frameshift_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433066_67433067insC	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.396dupG	11.37:g.67433072_67433072dupC	ENSP00000255084:p.Gly132fs					ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	p.E132fs	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			7	833_834	-			132	G -> V (in Ref. 4; BAC03897).				Q53Y98|Q8NAL5|Q96IB2	Frame_Shift_Ins	INS	ENST00000349015.3	37	c.395_396insG	CCDS31622.1																																																																																				0.644	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		12	884						12	884	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)gctfs	p.A9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.A9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.A9fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(25-27)tgcfs		nuclear mitotic apparatus protein 1																																				SO:0001589	frameshift_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71746964_71746965insC	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.26dupG	11.37:g.71746970_71746970dupC	ENSP00000377298:p.Ala9fs					NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs	p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			3	356_357	-			9						Frame_Shift_Ins	INS	ENST00000393695.3	37	c.25_26insG	CCDS31633.1																																																																																				0.505	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			7	336						7	336	---	---	---	---
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.55																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.e9-2		arrestin, beta 1																																				SO:0001630	splice_region_variant	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74988494_74988495insG	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.619-2->C	11.37:g.74988500_74988500dupG						ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site		NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN			9	716	-								B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Splice_Site	INS	ENST00000420843.2	37		CCDS44684.1																																																																																				0.550	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041	Intron	11	644						11	644	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88258517	88258518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:88258517_88258518insG	ENST00000305447.4	-	8	2834_2835	c.2685_2686insC	c.(2683-2688)cccaaafs	p.K896fs	GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000305432.5_Intron|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000418177.2_Frame_Shift_Ins_p.K896fs	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	896					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATACTCCCTTTGGGGGTGAAAC	0.485																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2683-2688)ccaaggfs		glutamate receptor, metabotropic 5	Acamprosate(DB00659)																																			SO:0001589	frameshift_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88258517_88258518insG	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2686dupC	11.37:g.88258522_88258522dupG	ENSP00000306138:p.Lys896fs					GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000305447.4_Frame_Shift_Ins_p.R896fs	p.R896fs			P41594	GRM5_HUMAN			9	3052_3053	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	896					Q6J164	Frame_Shift_Ins	INS	ENST00000305447.4	37	c.2685_2686insC	CCDS44694.1																																																																																				0.485	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		8	1366						8	1366	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs|NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(556-558)gggfs		neural cell adhesion molecule 1																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076860_113076861insG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.238dupG	11.37:g.113076866_113076866dupG	ENSP00000473281:p.Arg78fs					NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	4	556_557	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	196			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.556_557insG																																																																																					0.495	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		17	1081						17	1081	---	---	---	---
NLRX1	79671	broad.mit.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1884)atggggfs	p.MG627fs	NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.MG627fs	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTTC	0.624																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1879-1881)aggfs		NLR family member X1																																				SO:0001589	frameshift_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050610_119050611insG	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1887dupG	11.37:g.119050617_119050617dupG	ENSP00000387334:p.Met627fs					NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs	p.R627fs			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2467_2468	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	627			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Frame_Shift_Ins	INS	ENST00000409109.1	37	c.1880_1881insG	CCDS8416.1																																																																																				0.624	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		7	221						7	221	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		12	1314						12	1314	---	---	---	---
VSIG2	23584	broad.mit.edu	37	11	124620739	124620740	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:124620739_124620740insG	ENST00000326621.5	-	3	397_398	c.297_298insC	c.(295-300)cccacafs	p.T100fs	VSIG2_ENST00000403470.1_Frame_Shift_Ins_p.T100fs	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	100	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		ACCCCCACTGTGGGGGGGTTCT	0.54																																						ENST00000403470.1																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(295-300)cccagtfs		V-set and immunoglobulin domain containing 2				5,4259		0,5,2127						4.1	1.0			80	5,8249		0,5,4122	no	frameshift	VSIG2	NM_014312.3		0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799				10,12508				SO:0001589	frameshift_variant	23584					integral to plasma membrane|membrane fraction		g.chr11:124620739_124620740insG	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.298dupC	11.37:g.124620746_124620746dupG	ENSP00000318684:p.Thr100fs					VSIG2_ENST00000326621.5_Frame_Shift_Ins_p.S100fs	p.S100fs			Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	3	352_353	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	100			Ig-like V-type.		O95791|Q9NX42	Frame_Shift_Ins	INS	ENST00000326621.5	37	c.297_298insC	CCDS8452.1																																																																																				0.540	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		7	141						7	141	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G	rs567657119		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)cagfs	p.Q147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.Q147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(439-441)gtafs		immunoglobulin superfamily, member 9B																																				SO:0001589	frameshift_variant	22997					integral to membrane|plasma membrane		g.chr11:133807826_133807827insG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.440dupC	11.37:g.133807833_133807833dupG	ENSP00000317980:p.Gln147fs					IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs	p.V147fs			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	4	669_670	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	147			Ig-like 2.		G5EA26	Frame_Shift_Ins	INS	ENST00000321016.8	37	c.439_440insC																																																																																					0.574	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		14	244						14	244	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		18	284						18	284	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs368646629|rs267607359|rs267607360		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccgfs	p.P2377fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604																																						ENST00000261405.5																			1	Substitution - coding silent(1)	p.P2377P(1)	kidney(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CI983256	VWF	I	rs61750632	c.(7129-7131)ccafs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6091108_6091109insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7131dupC	12.37:g.6091114_6091114dupG	ENSP00000261405:p.Pro2377fs						p.P2377fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			42	7384_7385	-			2377					Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.7130_7131insC	CCDS8539.1																																																																																				0.604	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		8	393						8	393	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs62643632|rs62643631	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)ccgfs	p.P812fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CD920917|CM074633	VWF	D|M	rs137990643	c.(2434-2436)cggfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153463_6153464insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2436dupC	12.37:g.6153469_6153469dupG	ENSP00000261405:p.Pro812fs						p.R812fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			18	2689_2690	-			812			E1.|TIL 3.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2435_2436insC	CCDS8539.1																																																																																				0.594	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		16	474						16	474	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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			26	1340						26	1340	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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			13	253						13	253	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		11	298						11	298	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2167-2172)ccccccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347513_56347514insC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs					DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs	p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			24	2623_2624	+			723					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			12	384						12	384	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)cggfs	p.R579fs	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.R534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.R579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.R477fs			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					IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|RP11-603J24.4_ENST00000551846.1_RNA	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		29	915						29	915	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56490961	56490962	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:56490961_56490962insG	ENST00000267101.3	+	20	2847_2848	c.2407_2408insG	c.(2407-2409)cggfs	p.R803fs	ERBB3_ENST00000450146.2_Frame_Shift_Ins_p.R160fs|ERBB3_ENST00000415288.2_Frame_Shift_Ins_p.R744fs|ERBB3_ENST00000553131.1_Frame_Shift_Ins_p.R44fs|ERBB3_ENST00000549832.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	803	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGACAACACCGGGGGGCACTG	0.54																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2407-2409)gggfs		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3																																				SO:0001589	frameshift_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56490961_56490962insG	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2413dupG	12.37:g.56490967_56490967dupG	ENSP00000267101:p.Arg803fs					ERBB3_ENST00000553131.1_Frame_Shift_Ins_p.G44fs|ERBB3_ENST00000450146.2_Frame_Shift_Ins_p.G160fs|ERBB3_ENST00000415288.2_Frame_Shift_Ins_p.G744fs	p.G803fs	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		20	2847_2848	+			803			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Frame_Shift_Ins	INS	ENST00000267101.3	37	c.2407_2408insG	CCDS31833.1																																																																																				0.540	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			7	215						7	215	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56532024	56532025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:56532024_56532025insC	ENST00000394048.5	+	21	2569_2570	c.2305_2306insC	c.(2305-2307)accfs	p.T769fs	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.T779fs|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.T779fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	769					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGAGCGTCTCACCCCCCGTCCC	0.599																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2305-2307)cccfs		extended synaptotagmin-like protein 1																																				SO:0001589	frameshift_variant	23344					integral to membrane		g.chr12:56532024_56532025insC	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2311dupC	12.37:g.56532030_56532030dupC	ENSP00000377612:p.Thr769fs					ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.P779fs|ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.P779fs	p.P769fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			21	2569_2570	+			769					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Frame_Shift_Ins	INS	ENST00000394048.5	37	c.2305_2306insC	CCDS8904.1																																																																																				0.599	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		7	476						7	476	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559112	56559113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:56559112_56559113insG	ENST00000267064.4	-	26	3214_3215	c.3128_3129insC	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.P1074fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.P1074fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				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)			CATGGGGTCCAGGGGGGGGAAC	0.574																																						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.(3220-3222)cggfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	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.chr12:56559112_56559113insG	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.3129dupC	12.37:g.56559120_56559120dupG	ENSP00000267064:p.Pro1043fs					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs	p.R1074fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3326_3327	-			1043			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3221_3222insC	CCDS8907.1																																																																																				0.574	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			20	284						20	284	---	---	---	---
NACA	4666	broad.mit.edu	37	12	57115173	57115174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:57115173_57115174insG	ENST00000454682.1	-	3	421_422	c.140_141insC	c.(139-141)cctfs	p.P47fs	NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.P47fs|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	47	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGAGCAAGGAGGGGGGAGGGT	0.554			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(139-141)cccfs		nascent polypeptide-associated complex alpha subunit																																				SO:0001589	frameshift_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57115173_57115174insG	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.141dupC	12.37:g.57115179_57115179dupG	ENSP00000403817:p.Pro47fs					NACA_ENST00000550952.1_Frame_Shift_Ins_p.P47fs|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron	p.P47fs	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	421_422	-			0						Frame_Shift_Ins	INS	ENST00000454682.1	37	c.140_141insC																																																																																					0.554	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		7	221						7	221	---	---	---	---
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:57396635_57396636insG	ENST00000300101.2	-	2	2151_2152	c.2066_2067insC	c.(2065-2067)cctfs	p.P689fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	689			P -> A (in dbSNP:rs3741576).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGTGAAGTCAGGGGGGAGGCT	0.569																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(2065-2067)cgafs		zinc finger and BTB domain containing 39																																				SO:0001589	frameshift_variant	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396635_57396636insG	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.2067dupC	12.37:g.57396641_57396641dupG	ENSP00000300101:p.Pro689fs						p.R689fs	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	2151_2152	-			689		P -> A (in dbSNP:rs3741576).			A7MD38|Q9UD98	Frame_Shift_Ins	INS	ENST00000300101.2	37	c.2066_2067insC	CCDS31839.1																																																																																				0.569	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		9	638						9	638	---	---	---	---
STAT6	6778	broad.mit.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)cagfs	p.Q281fs	STAT6_ENST00000537215.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.Q171fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|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(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(841-843)ggtfs		signal transducer and activator of transcription 6, interleukin-4 induced																																				SO:0001589	frameshift_variant	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499093_57499094insG	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.842dupC	12.37:g.57499100_57499100dupG	ENSP00000300134:p.Gln281fs					STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs	p.G281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			9	1166_1167	-			281					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Frame_Shift_Ins	INS	ENST00000300134.3	37	c.841_842insC	CCDS8931.1																																																																																				0.639	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		9	191						9	191	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)cccaggfs	p.R445fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.R232fs|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.R339fs	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_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs	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		18	382						18	382	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112130538	112130539	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:112130538_112130539insC	ENST00000313698.4	+	2	180_181	c.25_26insC	c.(25-27)tccfs	p.S9fs	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.S9fs|ACAD10_ENST00000455480.2_Frame_Shift_Ins_p.S9fs|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	9						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.S9F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGTTTCCAGTCCCCCCGTCTC	0.619																																						ENST00000455480.2																			1	Substitution - Missense(1)	p.S9F(1)	skin(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(25-27)cccfs		acyl-CoA dehydrogenase family, member 10																																				SO:0001589	frameshift_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112130538_112130539insC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.31dupC	12.37:g.112130544_112130544dupC	ENSP00000325137:p.Ser9fs					ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000392636.2_5'UTR	p.P9fs	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			2	202_203	+			9					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Frame_Shift_Ins	INS	ENST00000313698.4	37	c.25_26insC	CCDS31903.1																																																																																				0.619	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		9	591						9	591	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs|HECTD4_ENST00000549141.1_5'Flank			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						ENST00000550722.1																			0											c.(12667-12669)cgafs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112600859_112600860insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs					HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs	p.R4223fs	NM_001109662.3	NP_001103132.3					75	13063_13064	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.12668_12669insC																																																																																					0.629	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		34	487						34	487	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000546737.1_Intron|SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000202831.3_Splice_Site			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1						cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CGCCAGCGCCTGGGGGGAGGAG	0.644																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.e8-2						0,4260		0,0,2130						3.3	0.4		dbSNP_126	108	1,8251		0,1,4125	no	splice-3	SLC24A6	NM_024959.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001630	splice_region_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758305_113758306insG	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.527-2->C	12.37:g.113758311_113758311dupG						SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_Intron				Q6J4K2	NCKX6_HUMAN			8	1042	-								A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Splice_Site	INS	ENST00000552014.1	37		CCDS31909.1																																																																																				0.644	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	Intron	19	1315						19	1315	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:117977604_117977605insG	ENST00000339824.5	-	10	2333_2334	c.1606_1607insC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000302438.5_Frame_Shift_Ins_p.L233fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Frame_Shift_Ins_p.L507fs			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)cccfs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977604_117977605insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1607dupC	12.37:g.117977611_117977611dupG	ENSP00000339952:p.Leu536fs					KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs	p.P507fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			10	1573_1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.1519_1520insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		10	258						10	258	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	118199247	118199248	+	Frame_Shift_Ins	INS	-	-	G	rs373628463		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:118199247_118199248insG	ENST00000339824.5	-	4	1281_1282	c.554_555insC	c.(553-555)ccgfs	p.P185fs	KSR2_ENST00000425217.1_Frame_Shift_Ins_p.P156fs			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	185	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGGGCTCCGGGGGGCACAC	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(466-468)cgafs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199247_118199248insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.555dupC	12.37:g.118199253_118199253dupG	ENSP00000339952:p.Pro185fs					KSR2_ENST00000339824.5_Frame_Shift_Ins_p.R185fs	p.R156fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	521_522	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		185					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.467_468insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	153						7	153	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124228388	124228389	+	Frame_Shift_Ins	INS	-	-	C	rs372416067		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:124228388_124228389insC	ENST00000330342.3	+	10	1343_1344	c.1095_1096insC	c.(1096-1098)cccfs	p.P366fs		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	366					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CAAAAGAAACACCCCCCACTCG	0.436																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1093-1098)acccccfs		ATPase, H+ transporting, lysosomal V0 subunit a2																																				SO:0001589	frameshift_variant	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124228388_124228389insC	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1101dupC	12.37:g.124228394_124228394dupC	ENSP00000332247:p.Pro366fs						p.TP365fs	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	10	1343_1344	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		365					A8K026|Q6NUM0	Frame_Shift_Ins	INS	ENST00000330342.3	37	c.1095_1096insC	CCDS9254.1																																																																																				0.436	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		7	103						7	103	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1660-1662)cccfs	p.P554fs	EP400_ENST00000330386.6_Frame_Shift_Ins_p.P518fs|EP400_ENST00000389561.2_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		8	635						8	635	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs					KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		17	283						17	283	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs193922103|rs137853287|rs587779354		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cccatgfs	p.M769fs	ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.M769fs|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.M41fs|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.M658fs|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD). {ECO:0000269|PubMed:10790207}.|M -> R (in WD).|M -> V (in WD). {ECO:0000269|PubMed:11690702}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACAAAGAGCATGGGGGGCGTGT	0.52									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55	GRCh37	CD982475|CI951903|CM992596	ATP7B	D|I|M		c.(2302-2307)cctgctfs		ATPase, Cu++ transporting, beta polypeptide																																				SO:0001589	frameshift_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52532497_52532498insG	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2305dupC	13.37:g.52532503_52532503dupG	ENSP00000242839:p.Met769fs					ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs	p.A769fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	8	2460_2461	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	769		M -> I (in WD).|M -> R (in WD).|M -> V (in WD).			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Frame_Shift_Ins	INS	ENST00000242839.4	37	c.2304_2305insC	CCDS41892.1																																																																																				0.520	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		10	924						10	924	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2203-2205)gggfs	p.G735fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.G735fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	735						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2200-2205)gaggggfs		Rho guanine nucleotide exchange factor (GEF) 40																																				SO:0001589	frameshift_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21546603_21546604insG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2209dupG	14.37:g.21546610_21546610dupG	ENSP00000298694:p.Gly735fs					ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs	p.EG734fs			Q8TER5	ARH40_HUMAN			10	2329_2330	+			734					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Ins	INS	ENST00000298694.4	37	c.2202_2203insG	CCDS32041.1																																																																																				0.629	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			9	236						9	236	---	---	---	---
AP1G2	8906	broad.mit.edu	37	14	24032653	24032654	+	Frame_Shift_Ins	INS	-	-	C	rs572740402		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr14:24032653_24032654insC	ENST00000308724.5	-	13	2100_2101	c.1345_1346insG	c.(1345-1347)gccfs	p.A449fs	AP1G2_ENST00000397120.3_Frame_Shift_Ins_p.A449fs|AP1G2_ENST00000556277.1_5'Flank|RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	449					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TAGCTCCTGGGCCCCCCCAATC	0.609											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(1345-1347)ccafs		adaptor-related protein complex 1, gamma 2 subunit				12,4252		0,12,2120						4.7	1.0			57	10,8244		0,10,4117	no	frameshift	AP1G2	NM_003917.2		0,22,6237	A1A1,A1R,RR		0.1212,0.2814,0.1757				22,12496				SO:0001589	frameshift_variant	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24032653_24032654insC	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1346dupG	14.37:g.24032660_24032660dupC	ENSP00000312442:p.Ala449fs		OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	AP1G2_ENST00000397120.3_Frame_Shift_Ins_p.P449fs|RP11-66N24.3_ENST00000555968.1_RNA	p.P449fs	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	13	2100_2101	-	all_cancers(95;0.000251)		449					D3DS51|O75504	Frame_Shift_Ins	INS	ENST00000308724.5	37	c.1345_1346insG	CCDS9602.1																																																																																				0.609	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		9	99						9	99	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824462	74824463	+	Frame_Shift_Ins	INS	-	-	G	rs533419765|rs201579420		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr14:74824462_74824463insG	ENST00000256362.4	+	2	1217_1218	c.976_977insG	c.(976-978)cggfs	p.R326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCCACCGGGGGGGCGTC	0.644																																						ENST00000256362.4																			1	Insertion - Frameshift(1)	p.V329fs*25(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(976-978)gggfs		vertebrae development associated																																				SO:0001589	frameshift_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824462_74824463insG	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.983dupG	14.37:g.74824469_74824469dupG	ENSP00000256362:p.Arg326fs						p.G326fs	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1217_1218	+			326					Q9NVC7	Frame_Shift_Ins	INS	ENST00000256362.4	37	c.976_977insG	CCDS9830.1																																																																																				0.644	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		14	211						14	211	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6708)gaggggfs	p.EG2235fs	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Frame_Shift_Ins_p.EG2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6703-6705)gggfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015000_34015001insG		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6710dupG	15.37:g.34015006_34015006dupG	ENSP00000373884:p.Glu2235fs					RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6774_6775	+		all_lung(180;7.18e-09)	2235			4 X approximate repeats.		O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.6704_6705insG	CCDS45210.1																																																																																				0.584	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	638						7	638	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9460-9462)cccfs	p.P3154fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.P3154fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3154					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9457-9462)ctccccfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078053_34078054insC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9465dupC	15.37:g.34078059_34078059dupC	ENSP00000373884:p.Pro3154fs					RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	p.LP3153fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9529_9530	+		all_lung(180;7.18e-09)	3153					O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.9459_9460insC	CCDS45210.1																																																																																				0.564	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			11	674						11	674	---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73615393	73615394	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:73615393_73615394insC	ENST00000261917.3	-	8	4033_4034	c.3040_3041insG	c.(3040-3042)gctfs	p.A1014fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1014	Pro-rich.				blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TACAGGGGAAGCCCCCCCAGAG	0.713																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(3040-3042)ttcfs		hyperpolarization activated cyclic nucleotide-gated potassium channel 4				20,2776		3,14,1381						0.7	0.3			6	10,6068		0,10,3029	no	frameshift	HCN4	NM_005477.2		3,24,4410	A1A1,A1R,RR		0.1645,0.7153,0.3381				30,8844				SO:0001589	frameshift_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615393_73615394insC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3041dupG	15.37:g.73615400_73615400dupC	ENSP00000261917:p.Ala1014fs						p.F1014fs	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4033_4034	-			1014			Pro-rich.		Q9UMQ7	Frame_Shift_Ins	INS	ENST00000261917.3	37	c.3040_3041insG	CCDS10248.1																																																																																				0.713	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		3	5						3	5	---	---	---	---
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79529452	79529453	+	lincRNA	INS	-	-	G	rs528488597	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:79529452_79529453insG	ENST00000560533.1	-	0	349																											ATAATGAGGATGGGGGGATGAC	0.49																																						ENST00000560533.1																			0																																																			729911							g.chr15:79529452_79529453insG																													15.37:g.79529458_79529458dupG														0	349	-									RNA	INS	ENST00000560533.1	37																																																																																						0.490	RP11-17L5.4-007	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000417804.1			9	503						9	503	---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101438349	101438350	+	Frame_Shift_Ins	INS	-	-	G	rs142377552	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr15:101438349_101438350insG	ENST00000329841.5	+	8	1374_1375	c.842_843insG	c.(841-846)ctggggfs	p.LG281fs	ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.LG174fs|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	281					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ACGCTGGAGCTGGGGGGGAAGA	0.569																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(841-843)cggfs		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)																																			SO:0001589	frameshift_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101438349_101438350insG	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.849dupG	15.37:g.101438356_101438356dupG	ENSP00000332256:p.Leu281fs					RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.R174fs	p.R281fs	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		8	1374_1375	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		281					Q6NT64	Frame_Shift_Ins	INS	ENST00000329841.5	37	c.842_843insG	CCDS10389.1																																																																																				0.569	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			7	110						7	110	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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			10	855						10	855	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16142119	16142120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:16142119_16142120insC	ENST00000399410.3	+	10	1514_1515	c.1339_1340insC	c.(1339-1341)gccfs	p.A447fs	ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.A447fs|ABCC1_ENST00000399408.2_Frame_Shift_Ins_p.A447fs	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	447	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GATCTGGTCAGCCCCCCTGCAA	0.545																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1339-1341)cccfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)																																			SO:0001589	frameshift_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16142119_16142120insC	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1345dupC	16.37:g.16142125_16142125dupC	ENSP00000382342:p.Ala447fs					ABCC1_ENST00000351154.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000345148.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000346370.5_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000399410.3_Frame_Shift_Ins_p.P447fs|ABCC1_ENST00000349029.5_Frame_Shift_Ins_p.P447fs	p.P447fs			P33527	MRP1_HUMAN			10	1514_1515	+			447			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Frame_Shift_Ins	INS	ENST00000399410.3	37	c.1339_1340insC	CCDS42122.1																																																																																				0.545	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		8	404						8	404	---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:22926721_22926722insA	ENST00000261374.3	+	2	1376_1377	c.942_943insA	c.(943-945)aaafs	p.K315fs		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	315					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCCCTTGCTTGAAAAAAACAGA	0.485																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(940-945)ttaaaafs		heparan sulfate (glucosamine) 3-O-sulfotransferase 2																																				SO:0001589	frameshift_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926721_22926722insA	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.949dupA	16.37:g.22926728_22926728dupA	ENSP00000261374:p.Lys315fs						p.LK314fs	NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1376_1377	+			314					Q52LZ1	Frame_Shift_Ins	INS	ENST00000261374.3	37	c.942_943insA	CCDS10606.1																																																																																				0.485	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		11	697						11	697	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28919982	28919983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:28919982_28919983insG	ENST00000358201.4	-	8	1780_1781	c.1192_1193insC	c.(1192-1194)cagfs	p.Q398fs	RABEP2_ENST00000357573.6_Frame_Shift_Ins_p.Q366fs|RABEP2_ENST00000544477.1_Frame_Shift_Ins_p.Q327fs	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	398					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CTGCGAGCCCTGGGGGGCTGAG	0.644																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(1192-1194)gggfs		rabaptin, RAB GTPase binding effector protein 2																																				SO:0001589	frameshift_variant	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28919982_28919983insG	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1193dupC	16.37:g.28919988_28919988dupG	ENSP00000350934:p.Gln398fs					RABEP2_ENST00000357573.6_Frame_Shift_Ins_p.G366fs|RABEP2_ENST00000544477.1_Frame_Shift_Ins_p.G327fs	p.G398fs	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			8	1780_1781	-			398						Frame_Shift_Ins	INS	ENST00000358201.4	37	c.1192_1193insC	CCDS42140.1																																																																																				0.644	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		7	284						7	284	---	---	---	---
SEPT1	1731	broad.mit.edu	37	16	30389139	30389140	+	IGR	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:30389139_30389140insC	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Frame_Shift_Ins_p.FP143fs			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TGGGCGGCCTTCCCCCCCGACG	0.673																																						ENST00000322861.7																			0				large_intestine(2)|lung(4)	6						c.(427-429)tccfs		myosin light chain, phosphorylatable, fast skeletal muscle																																				SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30389139_30389140insC	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30389146_30389146dupC							p.S143fs	NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		7	509_510	+			143			EF-hand 3.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Frame_Shift_Ins	INS	ENST00000571393.1	37	c.428_429insC																																																																																					0.673	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		10	155						10	155	---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072705	31072706	+	Frame_Shift_Ins	INS	-	-	G	rs77284397		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:31072705_31072706insG	ENST00000538906.1	-	3	2327_2328	c.1543_1544insC	c.(1543-1545)cagfs	p.Q515fs	ZNF668_ENST00000300849.4_Frame_Shift_Ins_p.Q515fs|ZNF668_ENST00000535577.1_Frame_Shift_Ins_p.Q515fs|ZNF668_ENST00000394983.2_Frame_Shift_Ins_p.Q515fs|ZNF668_ENST00000426488.2_Frame_Shift_Ins_p.Q538fs|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000539836.3_Frame_Shift_Ins_p.Q538fs	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_ENST00000394983.2_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000426488.2_Frame_Shift_Ins_p.V538fs|ZNF668_ENST00000300849.4_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000535577.1_Frame_Shift_Ins_p.V515fs|ZNF668_ENST00000539836.3_Frame_Shift_Ins_p.V538fs	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		11	288						11	288	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(856-858)cccfs	p.P286fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(853-858)ctccccfs		naked cuticle homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667134_50667135insC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.862dupC	16.37:g.50667141_50667141dupC	ENSP00000268459:p.Pro286fs						p.LP285fs	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1079_1080	+		all_cancers(37;0.229)	285					B2RC39|Q8WZ08	Frame_Shift_Ins	INS	ENST00000268459.3	37	c.855_856insC	CCDS10743.1																																																																																				0.599	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			11	153						11	153	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs						p.S38fs	NM_032935.2	NP_116324.1	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		40	1392						40	1392	---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67572614	67572615	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:67572614_67572615insC	ENST00000379312.3	+	3	277_278	c.156_157insC	c.(157-159)cccfs	p.P53fs	CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000042381.4_Frame_Shift_Ins_p.P49fs|FAM65A_ENST00000428437.2_Frame_Shift_Ins_p.P63fs|FAM65A_ENST00000422602.2_Frame_Shift_Ins_p.P69fs|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000540839.3_Frame_Shift_Ins_p.P69fs	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	53						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCCACGGAAGCCCCCCGCGCT	0.663																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(202-207)aaccccfs		family with sequence similarity 65, member A																																				SO:0001589	frameshift_variant	79567					cytoplasm	binding	g.chr16:67572614_67572615insC	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.162dupC	16.37:g.67572620_67572620dupC	ENSP00000368614:p.Pro53fs					CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Frame_Shift_Ins_p.NP62fs|FAM65A_ENST00000422602.2_Frame_Shift_Ins_p.NP68fs|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000042381.4_Frame_Shift_Ins_p.NP48fs|FAM65A_ENST00000379312.3_Frame_Shift_Ins_p.NP52fs	p.NP68fs			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	4	424_425	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	52					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Frame_Shift_Ins	INS	ENST00000379312.3	37	c.204_205insC	CCDS54028.1																																																																																				0.663	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		7	272						7	272	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cctfs	p.P2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCAGCCTCAGGGGGGATGGT	0.574																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(8971-8973)cgafs		HYDIN, axonemal central pair apparatus protein																																				SO:0001589	frameshift_variant	54768							g.chr16:70934982_70934983insG	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8973dupC	16.37:g.70934988_70934988dupG	ENSP00000377197:p.Pro2991fs						p.R2991fs	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			53	9122_9123	-		Ovarian(137;0.0654)	2991					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Ins	INS	ENST00000393567.2	37	c.8972_8973insC	CCDS59269.1																																																																																				0.574	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			10	1500						10	1500	---	---	---	---
FA2H	79152	broad.mit.edu	37	16	74752942	74752943	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		9	441						9	441	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)tggfs	p.W361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.53								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1081-1083)gggfs	Nucleotide excision repair (NER)	replication protein A1, 70kDa																																				SO:0001589	frameshift_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782982_1782983insG	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1087dupG	17.37:g.1782988_1782988dupG	ENSP00000254719:p.Trp361fs						p.G361fs	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			11	1191_1192	+			361					A8K0Y9|Q59ES9	Frame_Shift_Ins	INS	ENST00000254719.5	37	c.1081_1082insG	CCDS11014.1																																																																																				0.530	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		12	945						12	945	---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3844781	3844782	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:3844781_3844782insG	ENST00000352011.3	-	13	1766_1767	c.1712_1713insC	c.(1711-1713)ccafs	p.P571fs	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000309890.7_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.P571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.P571fs			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCTCCTTCCTTGGGGGCGCGTC	0.649																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1711-1713)cagfs		ATPase, Ca++ transporting, ubiquitous																																				SO:0001589	frameshift_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3844781_3844782insG		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1713dupC	17.37:g.3844786_3844786dupG	ENSP00000301387:p.Pro571fs					ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000352011.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.Q571fs	p.Q571fs	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	13	1862_1863	-			571					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Frame_Shift_Ins	INS	ENST00000352011.3	37	c.1712_1713insC	CCDS11041.1																																																																																				0.649	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		7	532						7	532	---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1645-1647)cccfs	p.P549fs	ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.P549fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.P510fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.P510fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	549					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(1642-1647)ctccccfs		zinc finger, MYND-type containing 15																																				SO:0001589	frameshift_variant	84225						zinc ion binding	g.chr17:4647723_4647724insC	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1650dupC	17.37:g.4647729_4647729dupC	ENSP00000391742:p.Pro549fs					ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs	p.LP548fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			10	1701_1702	+			509					B4DXY5|I3L296	Frame_Shift_Ins	INS	ENST00000433935.1	37	c.1644_1645insC	CCDS45584.1																																																																																				0.594	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		8	431						8	431	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4875737	4875738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:4875737_4875738insG	ENST00000348066.3	-	16	2720_2721	c.2597_2598insC	c.(2596-2598)cctfs	p.P866fs	RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.P871fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.P865fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.P889fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.P866fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.P868fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAGGTGCAGGGGGGGGACT	0.614																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2593-2595)cgcfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4875737_4875738insG	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2598dupC	17.37:g.4875745_4875745dupG	ENSP00000321813:p.Pro866fs					CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.R871fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.R889fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.R868fs	p.R865fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			15	3005_3006	-			866					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.2594_2595insC	CCDS11063.1																																																																																				0.614	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		7	57						7	57	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron	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					RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron	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			11	1209						11	1209	---	---	---	---
LGALS9B	284194	broad.mit.edu	37	17	20370782	20370783	+	Start_Codon_Ins	INS	-	-	TC	rs10687699|rs554373055|rs372509656	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:20370782_20370783insTC	ENST00000423676.3	-	0	64_65				LGALS9B_ENST00000324290.5_Start_Codon_Ins			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B								carbohydrate binding (GO:0030246)	p.M1fs*12(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GCTGAAGGCCATCTCCACCGCC	0.584														831	0.165935	0.2504	0.1326	5008	,	,		9041	0.127		0.1481	False		,,,				2504	0.1339					ENST00000423676.3																			1	Insertion - Frameshift(1)	p.M1fs*12(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10								lectin, galactoside-binding, soluble, 9B				372,1470		152,68,701						2.5	0.7		dbSNP_130	3	715,5069		234,247,2411	no	frameshift	LGALS9B	NM_001042685.1		386,315,3112	A1A1,A1R,RR		12.3617,20.1954,14.2539				1087,6539				SO:0001582	initiator_codon_variant	284194						sugar binding	g.chr17:20370782_20370783insTC		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.0_1dupGA	17.37:g.20370785_20370786dupTC						LGALS9B_ENST00000324290.5_Start_Codon_Ins				Q3B8N2	LEG9B_HUMAN			0	64_65	-								A6NLF8|A8K2J8	Translation_Start_Site	INS	ENST00000423676.3	37																																																																																						0.584	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		4	3						4	3	---	---	---	---
LGALS9	3965	broad.mit.edu	37	17	25975971	25975972	+	Frame_Shift_Ins	INS	-	-	G	rs138666349	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:25975971_25975972insG	ENST00000395473.2	+	11	2499_2500	c.1031_1032insG	c.(1030-1035)gtggggfs	p.VG344fs	LGALS9_ENST00000313648.6_3'UTR|LGALS9_ENST00000413914.2_3'UTR|LGALS9_ENST00000302228.5_Frame_Shift_Ins_p.VG312fs|LGALS9_ENST00000310394.5_Frame_Shift_Ins_p.VG300fs	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	344	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AGACTGGAAGTGGGGGGCGACA	0.614																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	ENST00000395473.2																			0				endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18						c.(1030-1032)gggfs		lectin, galactoside-binding, soluble, 9																																				SO:0001589	frameshift_variant	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25975971_25975972insG	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.1037dupG	17.37:g.25975977_25975977dupG	ENSP00000378856:p.Val344fs					LGALS9_ENST00000413914.2_3'UTR|LGALS9_ENST00000302228.5_Frame_Shift_Ins_p.G312fs|LGALS9_ENST00000310394.5_Frame_Shift_Ins_p.G300fs|LGALS9_ENST00000313648.6_3'UTR	p.G344fs	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	11	2499_2500	+	Lung NSC(42;0.0103)		344			Galectin 2.		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Frame_Shift_Ins	INS	ENST00000395473.2	37	c.1031_1032insG	CCDS11222.1																																																																																				0.614	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		7	480						7	480	---	---	---	---
SLC13A2	9058	broad.mit.edu	37	17	26817513	26817514	+	Frame_Shift_Ins	INS	-	-	G	rs201097963		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:26817513_26817514insG	ENST00000314669.5	+	3	693_694	c.273_274insG	c.(274-276)gggfs	p.G92fs	SLC13A2_ENST00000537681.1_Frame_Shift_Ins_p.G21fs|SLC13A2_ENST00000444914.3_Frame_Shift_Ins_p.G141fs|SLC13A2_ENST00000545060.1_Frame_Shift_Ins_p.G49fs	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	92					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCCTGTTCTTCGGGGGGCTGCT	0.639																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(418-423)ttggggfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26817513_26817514insG	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.279dupG	17.37:g.26817519_26817519dupG	ENSP00000316202:p.Gly92fs					SLC13A2_ENST00000545060.1_Frame_Shift_Ins_p.LG48fs|SLC13A2_ENST00000537681.1_Frame_Shift_Ins_p.LG20fs|SLC13A2_ENST00000314669.5_Frame_Shift_Ins_p.LG91fs	p.LG140fs	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	3	840_841	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		91					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Frame_Shift_Ins	INS	ENST00000314669.5	37	c.420_421insG	CCDS11231.1																																																																																				0.639	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		7	375						7	375	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27957891	27957892	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:27957891_27957892insT	ENST00000269033.3	-	15	4390_4391	c.4239_4240insA	c.(4237-4242)aaacggfs	p.R1414fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R1441fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1414					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						TTGGTTGTCCGTTTTTTGTCAT	0.485																																						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.(4237-4242)aaggacfs		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.chr17:27957891_27957892insT	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.4240dupA	17.37:g.27957897_27957897dupT	ENSP00000269033:p.Arg1414fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.D1441fs	p.D1414fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	4390_4391	-			1414					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.4239_4240insA	CCDS11253.1																																																																																				0.485	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		7	515						7	515	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G	rs376316249		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		28	747						28	747	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs562474149|rs35554312	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		7	252						7	252	---	---	---	---
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-648)cgccccfs	p.RP215fs	CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.RP215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.RP181fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(643-645)cccfs		CD300 molecule-like family member g																																				SO:0001589	frameshift_variant	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41931337_41931338insC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.651dupC	17.37:g.41931344_41931344dupC	ENSP00000321005:p.Arg215fs					CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs	p.P215fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	4	685_686	+		Breast(137;0.0199)	215					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Frame_Shift_Ins	INS	ENST00000317310.4	37	c.644_645insC	CCDS11470.1																																																																																				0.629	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		7	168						7	168	---	---	---	---
HDAC5	10014	broad.mit.edu	37	17	42157800	42157801	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:42157800_42157801insG	ENST00000393622.2	-	22	3124_3125	c.2793_2794insC	c.(2791-2796)cccattfs	p.I932fs	HDAC5_ENST00000225983.6_Frame_Shift_Ins_p.I933fs|HDAC5_ENST00000336057.5_Frame_Shift_Ins_p.I847fs|HDAC5_ENST00000586802.1_Frame_Shift_Ins_p.I932fs	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	932	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACGTCTCCAATGGGGGGGTCCA	0.609																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2794-2799)ccttggfs		histone deacetylase 5																																				SO:0001589	frameshift_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42157800_42157801insG	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2794dupC	17.37:g.42157807_42157807dupG	ENSP00000377244:p.Ile932fs					HDAC5_ENST00000586802.1_Frame_Shift_Ins_p.W932fs|HDAC5_ENST00000393622.2_Frame_Shift_Ins_p.W932fs|HDAC5_ENST00000336057.5_Frame_Shift_Ins_p.W847fs	p.W933fs			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	22	3119_3120	-		Breast(137;0.00637)|Prostate(33;0.0313)	932			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Frame_Shift_Ins	INS	ENST00000393622.2	37	c.2796_2797insC	CCDS45696.1																																																																																				0.609	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		7	185						7	185	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		9	209						9	209	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61559936	61559937	+	Frame_Shift_Ins	INS	-	-	G	rs370836540|rs145172277	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:61559936_61559937insG	ENST00000290866.4	+	8	1252_1253	c.1228_1229insG	c.(1228-1230)cggfs	p.R410fs	ACE_ENST00000413513.3_5'Flank|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000428043.1_Frame_Shift_Ins_p.R410fs|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000538928.1_Frame_Shift_Ins_p.R410fs|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	410	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTCCCTGCGTCGGGGGGCCAAC	0.609																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1228-1230)gggfs		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)																																			SO:0001589	frameshift_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61559936_61559937insG	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1234dupG	17.37:g.61559942_61559942dupG	ENSP00000290866:p.Arg410fs					ACE_ENST00000538928.1_Frame_Shift_Ins_p.G410fs|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Frame_Shift_Ins_p.G410fs	p.G410fs	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			8	1252_1253	+			410			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Frame_Shift_Ins	INS	ENST00000290866.4	37	c.1228_1229insG	CCDS11637.1																																																																																				0.609	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			7	238						7	238	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:62049212_62049213insG	ENST00000435607.1	-	4	559		c.e4-2		SCN4A_ENST00000578147.1_Splice_Site|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGTGTACCTGGGGGGGAGAG	0.589																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.e4-2		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)																																			SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049212_62049213insG	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.483-2->C	17.37:g.62049219_62049219dupG						SCN4A_ENST00000435607.1_Splice_Site				P35499	SCN4A_HUMAN			4	559	-								Q15478|Q16447|Q7Z6B1	Splice_Site	INS	ENST00000435607.1	37		CCDS45761.1																																																																																				0.589	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Intron	7	165						7	165	---	---	---	---
SLC16A6	9120	broad.mit.edu	37	17	66270149	66270150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:66270149_66270150insC	ENST00000327268.4	-	4	458_459	c.294_295insG	c.(292-297)gggctafs	p.L99fs	SLC16A6_ENST00000580666.1_Frame_Shift_Ins_p.L99fs|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	99					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(292-297)ggtactfs		solute carrier family 16, member 6	Pyruvic acid(DB00119)		,,	8,4256		0,8,2124					,,	-0.3	0.2			77	7,8247		0,7,4120	no	intron,frameshift,frameshift	SLC16A6,ARSG	NM_014960.3,NM_004694.4,NM_001174166.1	,,	0,15,6244	A1A1,A1R,RR		0.0848,0.1876,0.1198	,,	,,		15,12503				SO:0001589	frameshift_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66270149_66270150insC	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.295dupG	17.37:g.66270156_66270156dupC	ENSP00000319991:p.Leu99fs					ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Frame_Shift_Ins_p.T99fs	p.T99fs	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	458_459	-	all_cancers(12;1.24e-09)		99					Q6P1X3	Frame_Shift_Ins	INS	ENST00000327268.4	37	c.294_295insG	CCDS11675.1																																																																																				0.535	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		11	122						11	122	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		7	574						7	574	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(268-270)gacfs		family with sequence similarity 104, member A																																				SO:0001589	frameshift_variant	84923							g.chr17:71223356_71223357insG	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.269dupC	17.37:g.71223363_71223363dupG	ENSP00000384648:p.Gln90fs					FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000581110.1_Intron	p.D90fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	332_333	-			90					B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	c.268_269insC	CCDS11693.2																																																																																				0.416	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		11	302						11	302	---	---	---	---
OTOP2	92736	broad.mit.edu	37	17	72920762	72920763	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:72920762_72920763insC	ENST00000580223.1	+	1	65_66	c.35_36insC	c.(34-39)agccccfs	p.SP12fs	USH1G_ENST00000319642.1_5'Flank|OTOP2_ENST00000331427.4_Frame_Shift_Ins_p.SP12fs			Q7RTS6	OTOP2_HUMAN	otopetrin 2	12						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCAAGGAGAGCCCCCCGGCGC	0.693																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(34-36)accfs		otopetrin 2																																				SO:0001589	frameshift_variant	92736					integral to membrane		g.chr17:72920762_72920763insC	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.41dupC	17.37:g.72920768_72920768dupC	ENSP00000463837:p.Ser12fs					OTOP2_ENST00000580223.1_Frame_Shift_Ins_p.T12fs	p.T12fs	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			2	127_128	+	all_lung(278;0.172)|Lung NSC(278;0.207)		12						Frame_Shift_Ins	INS	ENST00000580223.1	37	c.35_36insC	CCDS11708.1																																																																																				0.693	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		2	4						2	4	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76814760	76814761	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr17:76814760_76814761insC	ENST00000542802.3	-	10	1454_1455	c.1011_1012insG	c.(1009-1014)gggaagfs	p.K338fs	USP36_ENST00000449938.2_Frame_Shift_Ins_p.K38fs|USP36_ENST00000312010.6_Frame_Shift_Ins_p.K338fs|USP36_ENST00000588467.1_5'UTR			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	338	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTGGTGATCTTCCCCCCGCTGA	0.54																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(1009-1014)ggagatfs		ubiquitin specific peptidase 36																																				SO:0001589	frameshift_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76814760_76814761insC	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1012dupG	17.37:g.76814766_76814766dupC	ENSP00000441214:p.Lys338fs					USP36_ENST00000588467.1_5'UTR|USP36_ENST00000542802.2_Frame_Shift_Ins_p.D338fs|USP36_ENST00000449938.2_Frame_Shift_Ins_p.D38fs	p.D338fs	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		10	1335_1336	-			338					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Ins	INS	ENST00000542802.3	37	c.1011_1012insG	CCDS32755.1																																																																																				0.540	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		8	215						8	215	---	---	---	---
KIAA1328	57536	broad.mit.edu	37	18	34647320	34647321	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr18:34647320_34647321insG	ENST00000280020.5	+	7	1066_1067	c.1044_1045insG	c.(1045-1047)ggtfs	p.G349fs	KIAA1328_ENST00000435985.2_Frame_Shift_Ins_p.G65fs|KIAA1328_ENST00000586501.1_Frame_Shift_Ins_p.G65fs|KIAA1328_ENST00000543923.1_Frame_Shift_Ins_p.G241fs|KIAA1328_ENST00000591619.1_Frame_Shift_Ins_p.G345fs|KIAA1328_ENST00000586135.1_Frame_Shift_Ins_p.G65fs	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	349										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGGTGCATGGTGGTGGGGCACT	0.441																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1030-1035)gggtggfs		KIAA1328																																				SO:0001589	frameshift_variant	57536							g.chr18:34647320_34647321insG	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1046dupG	18.37:g.34647322_34647322dupG	ENSP00000280020:p.Gly349fs					KIAA1328_ENST00000280020.5_Frame_Shift_Ins_p.W349fs|KIAA1328_ENST00000435985.2_Frame_Shift_Ins_p.W65fs|KIAA1328_ENST00000543923.1_Frame_Shift_Ins_p.W241fs|KIAA1328_ENST00000586501.1_Frame_Shift_Ins_p.W65fs|KIAA1328_ENST00000586135.1_Frame_Shift_Ins_p.W65fs	p.W345fs			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	7	1818_1819	+			349					Q05DL0|Q49AG6|Q9P2L8	Frame_Shift_Ins	INS	ENST00000280020.5	37	c.1032_1033insG	CCDS45855.1																																																																																				0.441	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		12	233						12	233	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		14	359						14	359	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		9	408						9	408	---	---	---	---
ANGPTL6	83854	broad.mit.edu	37	19	10204185	10204186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:10204185_10204186insC	ENST00000253109.4	-	5	1299_1300	c.1061_1062insG	c.(1060-1062)ggcfs	p.G354fs	ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.G314fs|ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.G354fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	354	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GTGCTCCACGGCCCCCCCAGTC	0.639																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(1060-1062)gcgfs		angiopoietin-like 6																																				SO:0001589	frameshift_variant	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10204185_10204186insC	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1062dupG	19.37:g.10204192_10204192dupC	ENSP00000253109:p.Gly354fs					ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.A314fs|ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.A354fs	p.A354fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		5	1299_1300	-			354			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Frame_Shift_Ins	INS	ENST00000253109.4	37	c.1061_1062insG	CCDS12224.1																																																																																				0.639	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		12	97						12	97	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)cccagcfs	p.S503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222139.6																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(1504-1509)ccgctafs		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)																																			SO:0001589	frameshift_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11488680_11488681insG	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1507dupC	19.37:g.11488686_11488686dupG	ENSP00000222139:p.Ser503fs		OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000592375.2_3'UTR	p.L503fs	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN			8	1610_1611	-			503					B2RCG4|Q15443|Q2M205	Frame_Shift_Ins	INS	ENST00000222139.6	37	c.1506_1507insC	CCDS12260.1																																																																																				0.569	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			16	1155						16	1155	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14774330	14774331	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:14774330_14774331insG	ENST00000253673.5	-	3	198_199	c.98_99insC	c.(97-99)ccafs	p.P33fs	EMR3_ENST00000344373.4_Frame_Shift_Ins_p.P33fs|EMR3_ENST00000443157.2_Frame_Shift_Ins_p.P33fs|EMR3_ENST00000599900.1_5'UTR	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	33	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGGAAGCATTTGGGGGGCACTT	0.485																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(97-99)caafs		egf-like module containing, mucin-like, hormone receptor-like 3																																				SO:0001589	frameshift_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14774330_14774331insG	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.99dupC	19.37:g.14774336_14774336dupG	ENSP00000253673:p.Pro33fs					EMR3_ENST00000443157.2_Frame_Shift_Ins_p.Q33fs|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.Q33fs	p.Q33fs	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			3	198_199	-			33			EGF-like 1.			Frame_Shift_Ins	INS	ENST00000253673.5	37	c.98_99insC	CCDS12315.1																																																																																				0.485	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		8	180						8	180	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:16860826_16860827insC	ENST00000552788.1	+	4	1373_1374	c.1373_1374insC	c.(1372-1377)tgccccfs	p.CP458fs	NWD1_ENST00000523826.1_Frame_Shift_Ins_p.CP252fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.CP323fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000524140.2_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.CP458fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1372-1374)tccfs		NACHT and WD repeat domain containing 1																																				SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16860826_16860827insC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1379dupC	19.37:g.16860832_16860832dupC	ENSP00000447224:p.Cys458fs					NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs	p.S458fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1791_1792	+			458			NACHT.		C9J021|Q68CT3	Frame_Shift_Ins	INS	ENST00000552788.1	37	c.1373_1374insC																																																																																					0.629	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		10	343						10	343	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)gggcatfs	p.H1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584																																						ENST00000443236.1																			1	Insertion - Frameshift(1)	p.H1052fs*30(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3151-3156)ggatcafs		C3 and PZP-like, alpha-2-macroglobulin domain containing 8																																				SO:0001589	frameshift_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039883_17039884insC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3154dupG	19.37:g.17039890_17039890dupC	ENSP00000402505:p.His1052fs						p.S1052fs	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			24	3184_3185	-			1005					Q8NC09|Q9ULD7	Frame_Shift_Ins	INS	ENST00000443236.1	37	c.3153_3154insG	CCDS42519.1																																																																																				0.584	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		7	113						7	113	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17081702	17081703	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:17081702_17081703insG	ENST00000443236.1	-	18	2383_2384	c.2352_2353insC	c.(2350-2355)cccaga>cccCaga	p.R785fs	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	738						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCGTTACCTGGGGGGGTGCC	0.569																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.e18+1		C3 and PZP-like, alpha-2-macroglobulin domain containing 8				11,3623		0,11,1806						2.2	0.9		dbSNP_126	26	10,7876		0,10,3933	no	frameshift-near-splice	CPAMD8	NM_015692.2		0,21,5739	A1A1,A1R,RR		0.1268,0.3027,0.1823				21,11499				SO:0001630	splice_region_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17081702_17081703insG	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2354+1->C	19.37:g.17081709_17081709dupG						CPAMD8_ENST00000388925.4_3'UTR	p.N785_splice	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			18	2383_2384	-			738					Q8NC09|Q9ULD7	Splice_Site	INS	ENST00000443236.1	37	c.2354_splice	CCDS42519.1																																																																																				0.569	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	Frame_Shift_Ins	7	79						7	79	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		13	523						13	523	---	---	---	---
SLC7A10	56301	broad.mit.edu	37	19	33703793	33703794	+	Frame_Shift_Ins	INS	-	-	G	rs143654746	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:33703793_33703794insG	ENST00000253188.4	-	3	617_618	c.471_472insC	c.(469-474)cccaccfs	p.T158fs		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	158					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGCTGTGGTGGGGGGGATGC	0.639																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(469-474)ccccacfs		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10																																				SO:0001589	frameshift_variant	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33703793_33703794insG	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.472dupC	19.37:g.33703800_33703800dupG	ENSP00000253188:p.Thr158fs						p.H158fs	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			3	617_618	-	Esophageal squamous(110;0.137)		158					B2RE84	Frame_Shift_Ins	INS	ENST00000253188.4	37	c.471_472insC	CCDS12431.1																																																																																				0.639	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		12	219						12	219	---	---	---	---
CHST8	64377	broad.mit.edu	37	19	34180279	34180280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:34180279_34180280insC	ENST00000262622.4	+	2	870_871	c.112_113insC	c.(112-114)gccfs	p.A38fs	CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000434302.1_Frame_Shift_Ins_p.A38fs|CHST8_ENST00000438847.3_Frame_Shift_Ins_p.A38fs	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	38					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.A38T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TACGGAGCTCGCCCCCCAGCAG	0.634																																						ENST00000262622.3																			1	Substitution - Missense(1)	p.A38T(1)	prostate(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(112-114)cccfs		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8																																				SO:0001589	frameshift_variant	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34180279_34180280insC	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.118dupC	19.37:g.34180285_34180285dupC	ENSP00000262622:p.Ala38fs					CHST8_ENST00000434302.1_Frame_Shift_Ins_p.P38fs|CHST8_ENST00000438847.2_Frame_Shift_Ins_p.P38fs|CHST8_ENST00000604556.1_Frame_Shift_Ins_p.P38fs	p.P38fs	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			2	870_871	+	Esophageal squamous(110;0.162)		38					Q9H3N2	Frame_Shift_Ins	INS	ENST00000262622.4	37	c.112_113insC	CCDS12433.1																																																																																				0.634	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		7	380						7	380	---	---	---	---
PSMC4	5704	broad.mit.edu	37	19	40480653	40480654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:40480653_40480654insC	ENST00000157812.2	+	6	789_790	c.591_592insC	c.(592-594)cccfs	p.P198fs	PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.P167fs	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	198					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGGCATCGATCCCCCCCGAGG	0.614																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(589-594)gaccccfs		proteasome (prosome, macropain) 26S subunit, ATPase, 4																																				SO:0001589	frameshift_variant	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40480653_40480654insC	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.598dupC	19.37:g.40480660_40480660dupC	ENSP00000157812:p.Pro198fs					PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.DP166fs	p.DP197fs	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			6	789_790	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		197					Q96FV5|Q9UBM3|Q9UEX3	Frame_Shift_Ins	INS	ENST00000157812.2	37	c.591_592insC	CCDS12547.1																																																																																				0.614	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		8	150						8	150	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs	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_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron	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		8	337						8	337	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:42621520_42621521insG	ENST00000526816.2	-	5	202		c.e5-2		POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q84fs|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000389341.5_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_ENST00000342301.4_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site	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	17	433						17	433	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_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		24	951						24	951	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:45556128_45556129insC	ENST00000221455.3	+	4	375_376	c.277_278insC	c.(277-279)accfs	p.T93fs	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000544944.2_Frame_Shift_Ins_p.T93fs	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614																																						ENST00000544944.2																			1	Insertion - Frameshift(1)	p.L96fs*17(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(277-279)cccfs		CLK4-associating serine/arginine rich protein																																				SO:0001589	frameshift_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45556128_45556129insC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.284dupC	19.37:g.45556135_45556135dupC	ENSP00000221455:p.Thr93fs					CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs	p.P93fs			Q8N2M8	CLASR_HUMAN			3	969_970	+			93					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Ins	INS	ENST00000221455.3	37	c.277_278insC	CCDS12652.2																																																																																				0.614	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		7	350						7	350	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)cccaccfs	p.T743fs	SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.T206fs|SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.T499fs|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGTACTCGGTGGGGGGCACAC	0.649																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2224-2229)ccccgafs		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001589	frameshift_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935586_47935587insG	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2227dupC	19.37:g.47935592_47935592dupG	ENSP00000236877:p.Thr743fs					SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs|SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs	p.R743fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2621_2622	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	743					B4DYQ9	Frame_Shift_Ins	INS	ENST00000236877.6	37	c.2226_2227insC	CCDS33065.1																																																																																				0.649	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			7	431						7	431	---	---	---	---
SNRNP70	6625	broad.mit.edu	37	19	49589711	49589712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		8	742						8	742	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		21	496						21	496	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		9	673						9	673	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_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_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_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		7	149						7	149	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		19	549						19	549	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(853-855)gggfs	p.G285fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	285					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(850-855)tgggggfs		zinc finger protein 175																																				SO:0001589	frameshift_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090436_52090437insG	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.858dupG	19.37:g.52090442_52090442dupG	ENSP00000262259:p.Gly285fs					ZNF175_ENST00000436511.2_Intron	p.WG284fs	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1210_1211	+		all_neural(266;0.0299)	284					A8K9H2	Frame_Shift_Ins	INS	ENST00000262259.2	37	c.852_853insG	CCDS12837.1																																																																																				0.441	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		11	470						11	470	---	---	---	---
DEFB132	400830	broad.mit.edu	37	20	239780	239781	+	Frame_Shift_Ins	INS	-	-	G	rs138201035	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:239780_239781insG	ENST00000382376.3	+	2	164_165	c.121_122insG	c.(121-123)tggfs	p.W41fs		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	41					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATGTTGCCACTGGGGGGAGACA	0.525																																						ENST00000382376.3																			0				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(121-123)gggfs		defensin, beta 132																																				SO:0001589	frameshift_variant	400830				defense response to bacterium	extracellular region		g.chr20:239780_239781insG	AF525932	CCDS12993.1	20p13	2009-12-04	2008-10-23		ENSG00000186458	ENSG00000186458		"""Defensins, beta"""	33806	protein-coding gene	gene with protein product						18416833	Standard	NM_207469		Approved	RP5-1103G7.6, DEFB32	uc002wdb.3	Q7Z7B7	OTTHUMG00000043061	ENST00000382376.3:c.127dupG	20.37:g.239786_239786dupG	ENSP00000371813:p.Trp41fs						p.G41fs	NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN			2	164_165	+			41					B2RP72|Q4QY40	Frame_Shift_Ins	INS	ENST00000382376.3	37	c.121_122insG	CCDS12993.1																																																																																				0.525	DEFB132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101365.1	NM_207469		7	199						7	199	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000608736.1_Intron|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_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR	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		16	582						16	582	---	---	---	---
PSMF1	9491	broad.mit.edu	37	20	1145690	1145691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:1145690_1145691insC	ENST00000335877.6	+	7	958_959	c.782_783insC	c.(781-786)ctccccfs	p.LP261fs	PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.LP261fs|PSMF1_ENST00000381898.4_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCAGACCATCTCCCCCCGCCGG	0.579																																						ENST00000335877.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.(781-783)cccfs		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)																																				SO:0001589	frameshift_variant	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1145690_1145691insC	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.788dupC	20.37:g.1145696_1145696dupC	ENSP00000338039:p.Leu261fs					PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Intron	p.P261fs	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN			7	958_959	+			261			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Frame_Shift_Ins	INS	ENST00000335877.6	37	c.782_783insC	CCDS13010.1																																																																																				0.579	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		10	337						10	337	---	---	---	---
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.V81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554																																						ENST00000304749.2																			0				kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(241-243)gaafs		cystatin SN																																				SO:0001589	frameshift_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23729753_23729754insC	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.242dupG	20.37:g.23729760_23729760dupC	ENSP00000305731:p.Val81fs					CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN			2	311_312	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		81					Q96LE6|Q9UCQ6	Frame_Shift_Ins	INS	ENST00000304749.2	37	c.241_242insG	CCDS13160.1																																																																																				0.554	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		22	614						22	614	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:30737490_30737491insC	ENST00000398022.2	+	10	1243_1244	c.1008_1009insC	c.(1009-1011)cccfs	p.P337fs	TM9SF4_ENST00000217315.5_Frame_Shift_Ins_p.P320fs	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	337						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(955-960)agccccfs		transmembrane 9 superfamily protein member 4																																				SO:0001589	frameshift_variant	9777					integral to membrane		g.chr20:30737490_30737491insC	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1015dupC	20.37:g.30737497_30737497dupC	ENSP00000381104:p.Pro337fs					TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs	p.SP319fs			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1297_1298	+			336					B0QYT7|Q9NUA3	Frame_Shift_Ins	INS	ENST00000398022.2	37	c.957_958insC	CCDS13196.2																																																																																				0.604	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		9	174						9	174	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G	rs200912653		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1356)gaggggfs	p.EG451fs	DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.EG443fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.EG355fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.EG389fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1351-1353)gggfs		DNA (cytosine-5-)-methyltransferase 3 beta																																				SO:0001589	frameshift_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31384650_31384651insG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1359dupG	20.37:g.31384657_31384657dupG	ENSP00000328547:p.Glu451fs					DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs	p.G451fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			13	1673_1674	+			451			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	c.1352_1353insG	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		14	245						14	245	---	---	---	---
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1668)ctccccfs	p.LP555fs	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.LP551fs			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	555																	CAGAAATACCTCCCCCCATTGA	0.455																																						ENST00000373973.3																			0											c.(1663-1665)cccfs		cyclic nucleotide binding domain containing 2																																				SO:0001589	frameshift_variant	140894							g.chr20:34618503_34618504insC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1670dupC	20.37:g.34618509_34618509dupC	ENSP00000363084:p.Leu555fs					CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs	p.P555fs							12	1837_1838	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Frame_Shift_Ins	INS	ENST00000373973.3	37	c.1664_1665insC																																																																																					0.455	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		10	1040						10	1040	---	---	---	---
PIGT	51604	broad.mit.edu	37	20	44050025	44050026	+	Frame_Shift_Ins	INS	-	-	C	rs530768714|rs569625672		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:44050025_44050026insC	ENST00000279036.6	+	9	1116_1117	c.1036_1037insC	c.(1036-1038)gccfs	p.A346fs	PIGT_ENST00000341555.5_Frame_Shift_Ins_p.A152fs|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.A290fs|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.A191fs|PIGT_ENST00000279035.9_Frame_Shift_Ins_p.A244fs|PIGT_ENST00000545755.1_Frame_Shift_Ins_p.A84fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGTG	0.574																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(1036-1038)cccfs		phosphatidylinositol glycan anchor biosynthesis, class T																																				SO:0001589	frameshift_variant	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44050025_44050026insC		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1043dupC	20.37:g.44050032_44050032dupC	ENSP00000279036:p.Ala346fs					PIGT_ENST00000279035.9_Frame_Shift_Ins_p.P244fs|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000341555.5_Frame_Shift_Ins_p.P152fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.P191fs|PIGT_ENST00000545755.1_Frame_Shift_Ins_p.P84fs|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.P290fs	p.P346fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN			9	1116_1117	+		Myeloproliferative disorder(115;0.0122)	346					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Frame_Shift_Ins	INS	ENST00000279036.6	37	c.1036_1037insC	CCDS13353.1																																																																																				0.574	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		8	120						8	120	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:44680421_44680422insG	ENST00000454036.2	+	18	2407_2408	c.2358_2359insG	c.(2359-2361)gggfs	p.G787fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.G764fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	787					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2356-2361)ctggggfs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44680421_44680422insG	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2364dupG	20.37:g.44680427_44680427dupG	ENSP00000387694:p.Gly787fs					SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	p.LG786fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			18	2434_2435	+		Myeloproliferative disorder(115;0.0122)	786					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Ins	INS	ENST00000454036.2	37	c.2358_2359insG	CCDS46610.1																																																																																				0.599	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			14	495						14	495	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs	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_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000371518.2_Intron	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	215						8	215	---	---	---	---
TAF4	6874	broad.mit.edu	37	20	60574110	60574111	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr20:60574110_60574111insA	ENST00000252996.4	-	12	2840_2841	c.2841_2842insT	c.(2839-2844)tttgaafs	p.E948fs		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	948					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCAAGCTGTTCAAAAAACTTGA	0.505																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2839-2844)ttaacafs		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa																																				SO:0001589	frameshift_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60574110_60574111insA	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2842dupT	20.37:g.60574116_60574116dupA	ENSP00000252996:p.Glu948fs						p.LT947fs	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		12	2840_2841	-	Breast(26;1e-08)		947					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Frame_Shift_Ins	INS	ENST00000252996.4	37	c.2841_2842insT	CCDS33500.1																																																																																				0.505	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		7	998						7	998	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(466-468)cccfs	p.P156fs	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.P119fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.P156fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	156					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(463-468)gtccccfs		intersectin 1 (SH3 domain protein)																																				SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35122566_35122567insC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.472dupC	21.37:g.35122573_35122573dupC	ENSP00000370719:p.Pro156fs					ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs	p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			6	753_754	+			155					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Ins	INS	ENST00000381318.3	37	c.465_466insC	CCDS33545.1																																																																																				0.525	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		7	180						7	180	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		9	565						9	565	---	---	---	---
TSPEAR	54084	broad.mit.edu	37	21	45987772	45987773	+	Frame_Shift_Ins	INS	-	-	G	rs587631627		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr21:45987772_45987773insG	ENST00000323084.4	-	2	264_265	c.199_200insC	c.(199-201)cgcfs	p.R67fs	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	67	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCATGGTGCGGGGGGCGGCT	0.564																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(199-201)cacfs		thrombospondin-type laminin G domain and EAR repeats																																				SO:0001589	frameshift_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45987772_45987773insG	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.200dupC	21.37:g.45987778_45987778dupG	ENSP00000321987:p.Arg67fs					TSPEAR_ENST00000397916.1_5'UTR	p.H67fs	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			2	264_265	-			67						Frame_Shift_Ins	INS	ENST00000323084.4	37	c.199_200insC	CCDS13712.1																																																																																				0.564	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		7	291						7	291	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs|CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs					CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	p.A797fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		8	274						8	274	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	5'Flank	INS	-	-	C	rs529641856|rs548950945	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:21399220_21399221insC	ENST00000342608.4	+	0	0				P2RX6P_ENST00000439119.1_RNA|AC002472.11_ENST00000450652.1_RNA|AC002472.13_ENST00000543388.1_5'Flank																lung(2)	2						TCTGCAGGGCGCCCCCCCACCA	0.599																																						ENST00000439119.1																			0																																																	SO:0001631	upstream_gene_variant	440799							g.chr22:21399220_21399221insC																													22.37:g.21399227_21399227dupC	Exception_encountered							NR_002829.1						0	51	-									RNA	INS	ENST00000342608.4	37																																																																																						0.599	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				20	270						20	270	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e9-2		THO complex 5			,,,	0,4264		0,0,2132					,,,	5.4	1.0			108	1,8253		0,1,4126	no	splice-3,splice-3,splice-3,splice-3	THOC5	NM_003678.4,NM_001002879.1,NM_001002878.1,NM_001002877.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29925230_29925231insG	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.848-2->C	22.37:g.29925236_29925236dupG						CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site|THOC5_ENST00000397872.1_Splice_Site		NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			9	970	-								O60839|Q9UPZ5	Splice_Site	INS	ENST00000490103.1	37		CCDS13859.1																																																																																				0.535	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	8	429						8	429	---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31289119	31289120	+	Frame_Shift_Ins	INS	-	-	C	rs552962356		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:31289119_31289120insC	ENST00000332585.6	+	9	1984_1985	c.1880_1881insC	c.(1879-1884)caccccfs	p.HP627fs	OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.HP369fs|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.HP454fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.HP461fs|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.HP578fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.HP626fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.HP171fs|OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.HP260fs	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	627					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1879-1881)cccfs		oxysterol binding protein 2																																				SO:0001589	frameshift_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31289119_31289120insC		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1887dupC	22.37:g.31289126_31289126dupC	ENSP00000332576:p.His627fs					OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.P454fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P626fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.P171fs|OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.P260fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.P461fs|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P578fs|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.P369fs	p.P627fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			9	1984_1985	+			627					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Frame_Shift_Ins	INS	ENST00000332585.6	37	c.1880_1881insC	CCDS43002.1																																																																																				0.594	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		8	165						8	165	---	---	---	---
PRR14L	253143	broad.mit.edu	37	22	32099548	32099549	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:32099548_32099549insG	ENST00000327423.6	-	6	6176_6177	c.5987_5988insC	c.(5986-5988)ccafs	p.P1996fs	PRR14L_ENST00000434485.1_Frame_Shift_Ins_p.P1996fs|PRR14L_ENST00000397493.2_Frame_Shift_Ins_p.P1996fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1996										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CTTTCTGTTCTGGGGGGCTGCT	0.535																																						ENST00000327423.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						c.(5986-5988)cgafs		proline rich 14-like																																				SO:0001589	frameshift_variant	253143							g.chr22:32099548_32099549insG	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5988dupC	22.37:g.32099554_32099554dupG	ENSP00000331845:p.Pro1996fs					PRR14L_ENST00000397493.2_Frame_Shift_Ins_p.R1996fs|PRR14L_ENST00000434485.1_Frame_Shift_Ins_p.R1996fs	p.R1996fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN			6	6176_6177	-			1996					Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Frame_Shift_Ins	INS	ENST00000327423.6	37	c.5987_5988insC	CCDS13900.2																																																																																				0.535	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		9	386						9	386	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	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_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	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		7	244						7	244	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		8	191						8	191	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42159249	42159250	+	Frame_Shift_Ins	INS	-	-	C	rs192926292		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:42159249_42159250insC	ENST00000401548.3	+	19	2232_2233	c.2192_2193insC	c.(2191-2196)cgccccfs	p.RP731fs	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.RP471fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.RP99fs|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.RP49fs	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGGCGAGCGCCCCCCACTGG	0.535											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2191-2193)cccfs		meiosis inhibitor 1																																				SO:0001589	frameshift_variant	150365						binding	g.chr22:42159249_42159250insC	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2198dupC	22.37:g.42159255_42159255dupC	ENSP00000384115:p.Arg731fs		OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.P49fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.P99fs|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.P471fs	p.P731fs	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			19	2232_2233	+			731						Frame_Shift_Ins	INS	ENST00000401548.3	37	c.2192_2193insC	CCDS46718.1																																																																																				0.535	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		8	307						8	307	---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42524213	42524214	+	Frame_Shift_Ins	INS	-	-	G	rs367543000|rs565013903	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:42524213_42524214insG	ENST00000360608.5	-	5	919_920	c.805_806insC	c.(805-807)cgafs	p.R269fs	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGTCAGGTCTCGGGGGGGCTGG	0.629																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CI994342	CYP2D6	I	rs72549352	c.(805-807)agafs		cytochrome P450, family 2, subfamily D, polypeptide 6																																				SO:0001589	frameshift_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42524213_42524214insG	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.806dupC	22.37:g.42524220_42524220dupG	ENSP00000353820:p.Arg269fs					NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|NDUFA6-AS1_ENST00000439129.1_RNA	p.R269fs	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			5	919_920	-			269					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Frame_Shift_Ins	INS	ENST00000360608.5	37	c.805_806insC	CCDS46721.1																																																																																				0.629	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			7	120						7	120	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000406733.1_5'UTR	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(88-90)cccfs		TBC1 domain family, member 22A																																				SO:0001589	frameshift_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47188443_47188444insC	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.96dupC	22.37:g.47188450_47188450dupC	ENSP00000336724:p.His30fs					TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000380995.1_5'UTR	p.P30fs	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	2	255_256	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	30					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Frame_Shift_Ins	INS	ENST00000337137.4	37	c.89_90insC	CCDS14078.1																																																																																				0.569	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		35	905						35	905	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:40982956_40982957insC	ENST00000324545.8	+	2	708_709	c.75_76insC	c.(76-78)cccfs	p.P26fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.P26fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	26					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.54																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(73-78)caccccfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40982956_40982957insC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.82dupC	X.37:g.40982963_40982963dupC	ENSP00000316357:p.Pro26fs					USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			2	708_709	+			25	Q -> L (in Ref. 1; CAA66942).				O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.75_76insC	CCDS43930.1																																																																																				0.540	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		10	99						10	99	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	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		9	375						9	375	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	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		42	356						42	356	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C	rs186832346		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	eacc4f56-30de-4978-a291-68a378436c34	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(928-930)cccfs		zinc finger, CCHC domain containing 12																																				SO:0001589	frameshift_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960135_117960136insC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.934dupC	X.37:g.117960141_117960141dupC	ENSP00000308921:p.Ser310fs						p.P310fs	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	1435_1436	+			310					B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Ins	INS	ENST00000310164.2	37	c.928_929insC	CCDS14574.1																																																																																				0.564	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		7	354						7	354	---	---	---	---
CCDC27	148870	broad.mit.edu	37	1	3688024	3688025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:3688024_3688025insC	ENST00000294600.2	+	12	1992_1993	c.1908_1909insC	c.(1909-1911)cccfs	p.P637fs	SMIM1_ENST00000444870.2_5'Flank|SMIM1_ENST00000561886.1_5'Flank	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	637										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCGTCAAAGTGCCCCCCCTGCA	0.55																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1906-1911)gtccccfs		coiled-coil domain containing 27																																				SO:0001589	frameshift_variant	148870							g.chr1:3688024_3688025insC		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1915dupC	1.37:g.3688031_3688031dupC	ENSP00000294600:p.Pro637fs						p.VP636fs	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	12	1992_1993	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	636					Q5TBV3|Q96M50	Frame_Shift_Ins	INS	ENST00000294600.2	37	c.1908_1909insC	CCDS50.1																																																																																				0.550	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		7	127						7	127	---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17725285	17725286	+	RNA	DEL	AC	AC	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr1:17725285_17725286delAC	ENST00000434762.2	+	0	1844_1845							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGCTGACTAACATCCCCTCTG	0.599																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17725285_17725286delAC	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17725285_17725286delAC										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1844_1845	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.599	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		22	129						22	129	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91899626	91899627	+	RNA	DEL	AA	AA	-	rs566726868	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr2:91899626_91899627delAA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAAA	0.287																																						ENST00000436174.1																			0																																																			0							g.chr2:91899626_91899627delAA																													2.37:g.91899636_91899637delAA														0	168	-									RNA	DEL	ENST00000436174.1	37																																																																																						0.287	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			2	4						2	4	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10183717	10183725	+	In_Frame_Del	DEL	GCTGCGCTC	GCTGCGCTC	-	rs5030826|rs104893827|rs104893826		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:10183717_10183725delGCTGCGCTC	ENST00000256474.2	+	1	1026_1034	c.186_194delGCTGCGCTC	c.(184-195)gtgctgcgctcg>gtg	p.LRS63del	VHL_ENST00000345392.2_In_Frame_Del_p.LRS63del|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	63			L -> P (in pheochromocytoma). {ECO:0000269|PubMed:9663592}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.S65fs*2(3)|p.V62fs*68(2)|p.E52_S65del(2)|p.L63fs*4(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.S65P(1)|p.L63*(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.G57fs*4(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*70(1)|p.P61fs*61(1)|p.S65A(1)|p.V62fs*3(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGCGGCCCGTGCTGCGCTCGGTGAACTCG	0.727		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		50	Substitution - Missense(17)|Deletion - Frameshift(14)|Substitution - Nonsense(11)|Deletion - In frame(4)|Complex - frameshift(2)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.S65fs*2(3)|p.V62fs*68(2)|p.E52_S65del(2)|p.L63fs*4(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.S65P(1)|p.L63*(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.G57fs*4(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*70(1)|p.P61fs*61(1)|p.S65A(1)|p.V62fs*3(1)|p.V62fs*1(1)	kidney(48)|adrenal_gland(1)|soft_tissue(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CD941803|CM020977|CM023992|CM941362|CM941363|CM941364|CM981997|CM981998	VHL	D|M	rs104893826|rs104893827|rs5030826	c.(184-195)gtg>gt		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10183717_10183725delGCTGCGCTC	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.186_194delGCTGCGCTC	3.37:g.10183717_10183725delGCTGCGCTC	ENSP00000256474:p.Leu63_Ser65del					VHL_ENST00000345392.2_In_Frame_Del_p.VLRS62del	p.VLRS62del	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	1	1026_1034	+			62					B2RE45|Q13599|Q6PDA9	In_Frame_Del	DEL	ENST00000256474.2	37	c.186_194delGCTGCGCTC	CCDS2597.1																																																																																				0.727	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		2	4						2	4	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52677285	52677285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:52677285delT	ENST00000296302.7	-	9	975	c.974delA	c.(973-975)aatfs	p.N325fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000356770.4_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N325fs			Q86U86	PB1_HUMAN	polybromo 1	325					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCTAGTGGGATTTCTCTCTTC	0.438			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000296302.7				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(973-975)atfs		polybromo 1							181.0	172.0	175.0					3																	52677285		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52677285delT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.974delA	3.37:g.52677285delT	ENSP00000296302:p.Asn325fs					PBRM1_ENST00000337303.4_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.N325fs|PBRM1_ENST00000356770.4_Intron	p.N325fs			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	9	975	-			325					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.974delA																																																																																					0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		29	86						29	86	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T	rs199843390		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGCATGAACTTACGGAATCT	0.401																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195713385_195713386insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195713387_195713387dupT								NR_003264.2						0	176	-									RNA	INS	ENST00000427841.1	37																																																																																						0.401	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	4						3	4	---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119239601	119239601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr4:119239601delT	ENST00000296498.3	-	5	1364	c.1082delA	c.(1081-1083)aagfs	p.K361fs		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	361	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGGAGCTCTTTGGACACTG	0.483																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1081-1083)agfs		protease, serine, 12 (neurotrypsin, motopsin)							115.0	109.0	111.0					4																	119239601		2203	4300	6503	SO:0001589	frameshift_variant	8492					membrane	scavenger receptor activity	g.chr4:119239601delT	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1082delA	4.37:g.119239601delT	ENSP00000296498:p.Lys361fs						p.K361fs	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			5	1364	-			361			SRCR 2.		Q9UP16	Frame_Shift_Del	DEL	ENST00000296498.3	37	c.1082delA	CCDS3709.1																																																																																				0.483	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			61	230						61	230	---	---	---	---
ZSWIM6	57688	broad.mit.edu	37	5	60628441	60628441	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:60628441delC	ENST00000252744.5	+	1	342	c.342delC	c.(340-342)ttcfs	p.F114fs		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	114	Gly-rich.				neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						ATTGGTCCTTCCCCCGCAGCG	0.736																																						ENST00000252744.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						c.(340-342)ttfs		zinc finger, SWIM-type containing 6							7.0	10.0	9.0					5																	60628441		683	1573	2256	SO:0001589	frameshift_variant	57688						zinc ion binding	g.chr5:60628441delC	BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.342delC	5.37:g.60628441delC	ENSP00000252744:p.Phe114fs						p.F114fs	NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN			1	342	+			114			Gly-rich.			Frame_Shift_Del	DEL	ENST00000252744.5	37	c.342delC	CCDS47215.1																																																																																				0.736	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368710.1	NM_020928		2	4						2	4	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71490419	71490420	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:71490419_71490420insA	ENST00000296755.7	+	5	1535_1536	c.1237_1238insA	c.(1237-1239)caafs	p.Q413fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	413					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATTCTTTTCCAAAAAATGGGA	0.401																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1237-1239)aaafs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490419_71490420insA	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1243dupA	5.37:g.71490425_71490425dupA	ENSP00000296755:p.Gln413fs						p.K413fs	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1535_1536	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	413					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.1237_1238insA	CCDS4012.1																																																																																				0.401	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		8	491						8	491	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495243	71495245	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:71495243_71495245delGAA	ENST00000296755.7	+	5	6359_6361	c.6061_6063delGAA	c.(6061-6063)gaadel	p.E2021del		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2021					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCCTGAGTCTGAAGGTTATTCCT	0.463																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6061-6063)del		microtubule-associated protein 1B																																				SO:0001651	inframe_deletion	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495243_71495245delGAA	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6061_6063delGAA	5.37:g.71495243_71495245delGAA	ENSP00000296755:p.Glu2021del						p.E2021del	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6359_6361	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2021					A2BDK5	In_Frame_Del	DEL	ENST00000296755.7	37	c.6061_6063delGAA	CCDS4012.1																																																																																				0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		16	641						16	641	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	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_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	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		7	907						7	907	---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178418554	178418555	+	Frame_Shift_Ins	INS	-	-	C	rs17078894|rs281865186	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr5:178418554_178418555insC	ENST00000517717.1	-	4	765_766	c.727_728insG	c.(727-729)gtcfs	p.V243fs	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Frame_Shift_Ins_p.V243fs			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	243					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCAATACAGACCCCCCCTGGG	0.624																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	GRCh37	CI054463	GRM6	I		c.(727-729)ctgfs		glutamate receptor, metabotropic 6				0,4262		0,0,2131				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.3	1.0		dbSNP_129	140	2,8252		0,2,4125	no	frameshift	GRM6	NM_000843.3		0,2,6256	A1A1,A1R,RR		0.0242,0.0,0.016				2,12514				SO:0001589	frameshift_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178418554_178418555insC	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.728dupG	5.37:g.178418561_178418561dupC	ENSP00000430767:p.Val243fs					GRM6_ENST00000517717.1_Frame_Shift_Ins_p.L243fs	p.L243fs	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	3	905_906	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	243						Frame_Shift_Ins	INS	ENST00000517717.1	37	c.727_728insG	CCDS4442.1																																																																																				0.624	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			7	188						7	188	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31975223	31975224	+	5'Flank	INS	-	-	T	rs369404825		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	1590						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				9	243						9	243	---	---	---	---
TDRG1	732253	broad.mit.edu	37	6	40306072	40306073	+	RNA	INS	-	-	G			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:40306072_40306073insG	ENST00000451810.1	+	0	313				TDRG1_ENST00000448559.1_RNA			Q3Y452	TDRG1_HUMAN	testis development related 1 (non-protein coding)						multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											acggtggaggtgggggtggcaa	0.589																																						ENST00000451810.1																			0																																																			732253							g.chr6:40306072_40306073insG	DQ168992		6p21.2	2014-07-18	2011-12-13		ENSG00000204091	ENSG00000204091		"""-"""	43642	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 532"""	615676				19403381, 22123530, 24595048	Standard	NR_024015		Approved	LINC00532	uc003opg.2		OTTHUMG00000014660		6.37:g.40306077_40306077dupG														0	313	+									RNA	INS	ENST00000451810.1	37																																																																																						0.589	TDRG1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000040485.1	NR_024015		4	8						4	8	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50805703	50805704	+	Frame_Shift_Ins	INS	-	-	G	rs34365845|rs143212621		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr6:50805703_50805704insG	ENST00000393655.3	+	5	1006_1007	c.837_838insG	c.(838-840)gggfs	p.G280fs	TFAP2B_ENST00000263046.4_Frame_Shift_Ins_p.G289fs	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	280					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AATCGAAAAATGGGGGGAGATC	0.436																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(862-867)aaggggfs		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)																																				SO:0001589	frameshift_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50805703_50805704insG	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.843dupG	6.37:g.50805709_50805709dupG	ENSP00000377265:p.Gly280fs					TFAP2B_ENST00000393655.3_Frame_Shift_Ins_p.KG279fs	p.KG288fs			Q92481	AP2B_HUMAN			6	1030_1031	+	Lung NSC(77;0.156)		279					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Frame_Shift_Ins	INS	ENST00000393655.3	37	c.864_865insG	CCDS4934.2																																																																																				0.436	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		8	197						8	197	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73731900	73731901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr7:73731900_73731901insC	ENST00000395060.1	+	1	24_25	c.24_25insC	c.(25-27)cccfs	p.P9fs	CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.P9fs|CLIP2_ENST00000223398.6_Frame_Shift_Ins_p.P9fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	9						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCGGCCTGAAGCCCCCCGGCCG	0.668																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(22-27)aaccccfs		CAP-GLY domain containing linker protein 2																																				SO:0001589	frameshift_variant	7461					microtubule associated complex		g.chr7:73731900_73731901insC	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.30dupC	7.37:g.73731906_73731906dupC	ENSP00000378500:p.Pro9fs					CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.NP8fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.NP8fs	p.NP8fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			2	351_352	+			8					O14527|O43611	Frame_Shift_Ins	INS	ENST00000395060.1	37	c.24_25insC	CCDS5569.1																																																																																				0.668	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		8	216						8	216	---	---	---	---
NMT2	9397	broad.mit.edu	37	10	15151779	15151779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr10:15151779delT	ENST00000378165.4	-	11	1478	c.1398delA	c.(1396-1398)aaafs	p.K466fs	NMT2_ENST00000535341.1_Frame_Shift_Del_p.K453fs|NMT2_ENST00000540259.1_Frame_Shift_Del_p.K278fs|NMT2_ENST00000378150.1_Frame_Shift_Del_p.K453fs|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	466					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CAAACTTGAGTTTTTCCAAGA	0.338																																					Melanoma(117;1345 1645 4130 12688 30625)	ENST00000378165.4																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						c.(1396-1398)aafs		N-myristoyltransferase 2							128.0	126.0	127.0					10																	15151779		2203	4300	6503	SO:0001589	frameshift_variant	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15151779delT	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1398delA	10.37:g.15151779delT	ENSP00000367407:p.Lys466fs					NMT2_ENST00000378150.1_Frame_Shift_Del_p.K453fs|NMT2_ENST00000540259.1_Frame_Shift_Del_p.K278fs|NMT2_ENST00000535341.1_Frame_Shift_Del_p.K453fs|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR	p.K466fs	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN			11	1478	-			466					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Frame_Shift_Del	DEL	ENST00000378165.4	37	c.1398delA	CCDS7109.1																																																																																				0.338	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		21	60						21	60	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123970690	123970691	+	Frame_Shift_Ins	INS	-	-	G	rs148585687|rs114482287	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr10:123970690_123970691insG	ENST00000369005.1	+	9	7090_7091	c.6750_6751insG	c.(6751-6753)gggfs	p.G2251fs	TACC2_ENST00000515273.1_Frame_Shift_Ins_p.G2255fs|TACC2_ENST00000368999.1_Frame_Shift_Ins_p.G329fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369004.3_Frame_Shift_Ins_p.G329fs|TACC2_ENST00000260733.3_Frame_Shift_Ins_p.G329fs|TACC2_ENST00000358010.1_Frame_Shift_Ins_p.G397fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Frame_Shift_Ins_p.G2206fs|TACC2_ENST00000513429.1_Frame_Shift_Ins_p.G397fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.G2251fs|TACC2_ENST00000360561.3_Frame_Shift_Ins_p.G329fs|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.G2255fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2251					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCGGATAGCGGGGGGCAAGA	0.599																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6748-6753)agggggfs		transforming, acidic coiled-coil containing protein 2																																				SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970690_123970691insG	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6756dupG	10.37:g.123970696_123970696dupG	ENSP00000358001:p.Gly2251fs					TACC2_ENST00000515603.1_Frame_Shift_Ins_p.RG2205fs|TACC2_ENST00000515273.1_Frame_Shift_Ins_p.RG2254fs|TACC2_ENST00000360561.3_Frame_Shift_Ins_p.RG328fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Frame_Shift_Ins_p.RG396fs|TACC2_ENST00000453444.2_Frame_Shift_Ins_p.RG2254fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000260733.3_Frame_Shift_Ins_p.RG328fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.RG2250fs|TACC2_ENST00000369004.3_Frame_Shift_Ins_p.RG328fs|TACC2_ENST00000368999.1_Frame_Shift_Ins_p.RG328fs|TACC2_ENST00000358010.1_Frame_Shift_Ins_p.RG396fs	p.RG2250fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7090_7091	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2250					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Ins	INS	ENST00000369005.1	37	c.6750_6751insG	CCDS7626.1																																																																																				0.599	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			9	167						9	167	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)gaafs	p.E1294fs	ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|CDH24_ENST00000487137.2_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(3880-3882)afs		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.chr14:23528502_23528503delTC	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.3880_3881delGA	14.37:g.23528512_23528513delTC	ENSP00000262710:p.Glu1294fs		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs	p.E1294fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4207_4208	-	all_cancers(95;1.36e-05)		1294			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Del	DEL	ENST00000262710.1	37	c.3880_3881delGA	CCDS9587.1																																																																																				0.629	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		8	145						8	145	---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73615393	73615394	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr15:73615393_73615394insC	ENST00000261917.3	-	8	4033_4034	c.3040_3041insG	c.(3040-3042)gctfs	p.A1014fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1014	Pro-rich.				blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TACAGGGGAAGCCCCCCCAGAG	0.713																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(3040-3042)ttcfs		hyperpolarization activated cyclic nucleotide-gated potassium channel 4				20,2776		3,14,1381						0.7	0.3			6	10,6068		0,10,3029	no	frameshift	HCN4	NM_005477.2		3,24,4410	A1A1,A1R,RR		0.1645,0.7153,0.3381				30,8844				SO:0001589	frameshift_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615393_73615394insC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3041dupG	15.37:g.73615400_73615400dupC	ENSP00000261917:p.Ala1014fs						p.F1014fs	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4033_4034	-			1014			Pro-rich.		Q9UMQ7	Frame_Shift_Ins	INS	ENST00000261917.3	37	c.3040_3041insG	CCDS10248.1																																																																																				0.713	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		3	5						3	5	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40939480	40939481	+	Frame_Shift_Ins	INS	-	-	C	rs569800816		TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:40939480_40939481insC	ENST00000246914.5	+	7	1682_1683	c.1661_1662insC	c.(1660-1665)ttccccfs	p.FP554fs	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	554					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCAGTGTCTTCCCCCCTGAGC	0.609																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1660-1662)tccfs		WNK lysine deficient protein kinase 4																																				SO:0001589	frameshift_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40939480_40939481insC	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1667dupC	17.37:g.40939486_40939486dupC	ENSP00000246914:p.Phe554fs					WNK4_ENST00000587705.1_3'UTR	p.S554fs	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	7	1682_1683	+		Breast(137;0.000143)	554					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Frame_Shift_Ins	INS	ENST00000246914.5	37	c.1661_1662insC	CCDS11439.1																																																																																				0.609	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			9	319						9	319	---	---	---	---
OTOP2	92736	broad.mit.edu	37	17	72920762	72920763	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:72920762_72920763insC	ENST00000580223.1	+	1	65_66	c.35_36insC	c.(34-39)agccccfs	p.SP12fs	USH1G_ENST00000319642.1_5'Flank|OTOP2_ENST00000331427.4_Frame_Shift_Ins_p.SP12fs			Q7RTS6	OTOP2_HUMAN	otopetrin 2	12						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCAAGGAGAGCCCCCCGGCGC	0.693																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(34-36)accfs		otopetrin 2																																				SO:0001589	frameshift_variant	92736					integral to membrane		g.chr17:72920762_72920763insC	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.41dupC	17.37:g.72920768_72920768dupC	ENSP00000463837:p.Ser12fs					OTOP2_ENST00000580223.1_Frame_Shift_Ins_p.T12fs	p.T12fs	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			2	127_128	+	all_lung(278;0.172)|Lung NSC(278;0.207)		12						Frame_Shift_Ins	INS	ENST00000580223.1	37	c.35_36insC	CCDS11708.1																																																																																				0.693	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		2	4						2	4	---	---	---	---
PDE6G	5148	broad.mit.edu	37	17	79614933	79614936	+	IGR	DEL	TAAC	TAAC	-	rs34872037|rs10536197|rs397693108	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr17:79614933_79614936delTAAC	ENST00000331056.5	-	0	1023				PDE6G_ENST00000574777.1_5'Flank|TSPAN10_ENST00000328585.4_RNA|TSPAN10_ENST00000572675.1_RNA	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma						activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	GCAGGTACTTTAACTAACTGCAGC	0.637														4228	0.844249	0.947	0.7738	5008	,	,		14523	0.997		0.6441	False		,,,				2504	0.8037				GBM(189;38 2147 16440 40945 46567)	ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10				3258,464		1461,336,64						4.3	0.8		dbSNP_126	13	4943,2891		1640,1663,614	no	frameshift	TSPAN10	NM_031945.3		3101,1999,678	A1A1,A1R,RR		36.9032,12.4664,29.0325				8201,3355				SO:0001628	intergenic_variant	83882					integral to membrane		g.chr17:79614933_79614936delTAAC		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"""Phosphodiesterases"""	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545			17.37:g.79614937_79614940delTAAC						TSPAN10_ENST00000572675.1_RNA		NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		0	771	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q3KP63|Q7Z3U8	RNA	DEL	ENST00000331056.5	37		CCDS11783.1																																																																																				0.637	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			10	16						10	16	---	---	---	---
CEACAM8	1088	broad.mit.edu	37	19	43099292	43099293	+	5'Flank	DEL	AC	AC	-	rs145494923	byFrequency	TCGA-A3-3378-01A-01W-0886-08	TCGA-A3-3378-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58ed1281-f5b3-4f5c-89b5-650450010cd5	d9e7dcf2-0027-41db-a125-92d895520f0e	g.chr19:43099292_43099293delAC	ENST00000244336.5	-	0	0				LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_5'Flank|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8						immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				cactatgcagacacacacacac	0.52														3	0.000599042	0.0008	0.0	5008	,	,		23128	0.001		0.001	False		,,,				2504	0.0					ENST00000594688.1																			0																																																	SO:0001631	upstream_gene_variant	100996307							g.chr19:43099292_43099293delAC	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124		19.37:g.43099302_43099303delAC	Exception_encountered					LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+								O60399|Q16574	RNA	DEL	ENST00000244336.5	37		CCDS12610.1																																																																																				0.520	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			2	4						2	4	---	---	---	---
