#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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		15	601	0	0	0	1	0	15	601				
LIMD1	8994	broad.mit.edu	37	3	45637462	45637462	+	Missense_Mutation	SNP	C	C	T	rs371029378		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:45637462C>T	ENST00000273317.4	+	1	1112	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V	LIMD1_ENST00000440097.1_Missense_Mutation_p.A364V|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	364					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CAGCAGGGTGCGGTCCCTGGG	0.632																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(1090-1092)gCg>gTg		LIM domains containing 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	66.0	65.0	65.0		1091	-0.5	0.0	3		65	0,8600		0,0,4300	no	missense	LIMD1	NM_014240.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	364/677	45637462	1,13005	2203	4300	6503	SO:0001583	missense	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45637462C>T	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1091C>T	3.37:g.45637462C>T	ENSP00000273317:p.Ala364Val					LIMD1_ENST00000440097.1_Missense_Mutation_p.A364V|LIMD1_ENST00000465039.1_Intron	p.A364V	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	1112	+			364					Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	ENST00000273317.4	37	c.1091C>T	CCDS2729.1	.	.	.	.	.	.	.	.	.	.	C	4.329	0.060465	0.08339	2.27E-4	0.0	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.57907	0.37;0.57	4.51	-0.47	0.12131	.	1.995580	0.02416	N	0.082088	T	0.34687	0.0906	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.09079	-1.0691	10	0.22109	T	0.4	.	5.4033	0.16308	0.0:0.4736:0.1363:0.3901	.	364	Q9UGP4	LIMD1_HUMAN	V	364	ENSP00000394537:A364V;ENSP00000273317:A364V	ENSP00000273317:A364V	A	+	2	0	LIMD1	45612466	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.016000	0.12613	-0.337000	0.08426	0.655000	0.94253	GCG		0.632	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		5	266	0	0	0	1	0	5	266				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	166	0	0	0	1	0	5	166				
SPEN	23013	broad.mit.edu	37	1	16260917	16260917	+	Missense_Mutation	SNP	G	G	A	rs377314260		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:16260917G>A	ENST00000375759.3	+	11	8386	c.8182G>A	c.(8182-8184)Gct>Act	p.A2728T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2728	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGTCAATGCCGCTGCGAGTGC	0.597																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(8182-8184)Gct>Act		spen family transcriptional repressor		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	80.0	75.0	77.0		8182	-3.2	0.0	1		77	0,8600		0,0,4300	no	missense	SPEN	NM_015001.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2728/3665	16260917	1,13005	2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260917G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8182G>A	1.37:g.16260917G>A	ENSP00000364912:p.Ala2728Thr						p.A2728T	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	8386	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2728			Interaction with RBPSUH (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.8182G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.580191	0.00879	2.27E-4	0.0	ENSG00000065526	ENST00000375759	T	0.11821	2.74	2.74	-3.23	0.05109	.	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.42189	-0.9466	9	0.15066	T	0.55	0.0051	0.5368	0.00638	0.3557:0.1752:0.2912:0.1779	.	2728	Q96T58	MINT_HUMAN	T	2728	ENSP00000364912:A2728T	ENSP00000364912:A2728T	A	+	1	0	SPEN	16133504	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.045000	0.03528	-0.787000	0.04510	-0.305000	0.09177	GCT		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		6	360	0	0	0	1	0	6	360				
CD163L1	283316	broad.mit.edu	37	12	7527078	7527078	+	Silent	SNP	G	G	A	rs369447691		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:7527078G>A	ENST00000313599.3	-	13	3426	c.3369C>T	c.(3367-3369)caC>caT	p.H1123H	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Silent_p.H1133H|CD163L1_ENST00000396630.1_Silent_p.H1123H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1123	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCTGCAGTCGTGCTGCCCCC	0.607																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3367-3369)caC>caT		CD163 molecule-like 1		G		0,4406		0,0,2203	78.0	69.0	72.0		3369	-3.8	0.0	12		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CD163L1	NM_174941.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1123/1454	7527078	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527078G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3369C>T	12.37:g.7527078G>A						CD163L1_ENST00000416109.2_Silent_p.H1133H|CD163L1_ENST00000396630.1_Silent_p.H1123H	p.H1123H			Q9NR16	C163B_HUMAN			13	3426	-			1123			SRCR 10.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.3369C>T	CCDS8577.1																																																																																				0.607	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		6	332	0	0	0	1	0	6	332				
HMGB1	3146	broad.mit.edu	37	13	31035512	31035512	+	Missense_Mutation	SNP	T	T	A	rs200836895	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:31035512T>A	ENST00000405805.1	-	5	1570	c.630A>T	c.(628-630)gaA>gaT	p.E210D	HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000468384.1_5'Flank			P09429	HMGB1_HUMAN	high mobility group box 1	210	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CATCAtcatcttcttcttcat	0.378													T|||	6	0.00119808	0.003	0.0	5008	,	,		18295	0.0		0.0	False		,,,				2504	0.002					ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(628-630)gaA>gaT		high mobility group box 1							20.0	25.0	23.0					13																	31035512		1894	4135	6029	SO:0001583	missense	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31035512T>A	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.630A>T	13.37:g.31035512T>A	ENSP00000384678:p.Glu210Asp					HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR	p.E210D			P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	5	1570	-		Lung SC(185;0.0257)	210			Asp/Glu-rich (acidic).		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	ENST00000405805.1	37	c.630A>T	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336740	0.41398	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399494	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.68	-1.58	0.08479	Armadillo-like helical (1);	0.305542	0.22770	N	0.055856	T	0.33440	0.0863	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.02901	-1.1096	10	0.87932	D	0	.	4.5078	0.11896	0.474:0.2443:0.0:0.2817	.	171;210	B3KQ05;P09429	.;HMGB1_HUMAN	D	210	ENSP00000384678:E210D;ENSP00000343040:E210D;ENSP00000345347:E210D;ENSP00000382417:E210D	ENSP00000343040:E210D	E	-	3	2	HMGB1	29933512	0.999000	0.42202	0.997000	0.53966	0.995000	0.86356	0.152000	0.16302	-0.149000	0.11215	-0.276000	0.10085	GAA		0.378	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		5	146	0	0	0	1	0	5	146				
CACNA1H	8912	broad.mit.edu	37	16	1259139	1259139	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:1259139C>T	ENST00000348261.5	+	17	3719	c.3471C>T	c.(3469-3471)cgC>cgT	p.R1157R	CACNA1H_ENST00000565831.1_Silent_p.R1157R|CACNA1H_ENST00000358590.4_Silent_p.R1157R|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1157					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCAAGCGCCGCGGCCAGTGTG	0.741																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(3469-3471)cgC>cgT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						4.0	5.0	5.0					16																	1259139		1796	3827	5623	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1259139C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3471C>T	16.37:g.1259139C>T						CACNA1H_ENST00000358590.4_Silent_p.R1157R|CACNA1H_ENST00000565831.1_Silent_p.R1157R	p.R1157R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			17	3719	+		Hepatocellular(780;0.00369)	1157					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.3471C>T	CCDS45375.1																																																																																				0.741	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	29	0	0	0	1	0	4	29				
ELTD1	64123	broad.mit.edu	37	1	79387436	79387436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:79387436C>T	ENST00000370742.3	-	9	1182	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	373	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGAGTAATTCCAAAATGCAC	0.398																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1117-1119)tgG>tgA		EGF, latrophilin and seven transmembrane domain containing 1							119.0	112.0	114.0					1																	79387436		1946	4138	6084	SO:0001587	stop_gained	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79387436C>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1119G>A	1.37:g.79387436C>T	ENSP00000359778:p.Trp373*						p.W373*	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	9	1182	-			373			GPS.		B1AR71|Q5KU34	Nonsense_Mutation	SNP	ENST00000370742.3	37	c.1119G>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540107	0.85917	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6784	0.95946	0.0:1.0:0.0:0.0	.	.	.	.	X	373	.	.	W	-	3	0	ELTD1	79160024	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	7.583000	0.82559	2.724000	0.93272	0.585000	0.79938	TGG		0.398	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		46	248	0	0	0	1	0	46	248				
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	0					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CATGGCTCGCACAGGGTGGAC	0.562																																						ENST00000373450.4																			3	Substitution - Missense(3)	p.T4A(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(10-12)Aca>Gca									61.0	53.0	56.0					2																	234526363		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526363A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala						p.T4A	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	73	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.10A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA		0.562	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			5	294	0	0	0	1	0	5	294				
MMP7	4316	broad.mit.edu	37	11	102395738	102395738	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:102395738G>A	ENST00000260227.4	-	4	594	c.542C>T	c.(541-543)gCg>gTg	p.A181V		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	181					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	TGTCCCAGGCGCAAAGGCATG	0.493																																						ENST00000260227.4																			0				large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(541-543)gCg>gTg		matrix metallopeptidase 7 (matrilysin, uterine)							102.0	85.0	91.0					11																	102395738		2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102395738G>A	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.542C>T	11.37:g.102395738G>A	ENSP00000260227:p.Ala181Val						p.A181V	NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	4	594	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	181					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.542C>T	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122355	0.56613	.	.	ENSG00000137673	ENST00000260227	T	0.47528	0.84	5.12	-1.84	0.07809	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.307950	0.05276	N	0.518503	T	0.49881	0.1583	M	0.85041	2.73	0.09310	N	1	D;D	0.59767	0.986;0.97	B;B	0.43123	0.409;0.409	T	0.50890	-0.8774	10	0.54805	T	0.06	-4.058	4.1887	0.10411	0.1263:0.0955:0.2569:0.5214	.	181;181	Q53GF1;P09237	.;MMP7_HUMAN	V	181	ENSP00000260227:A181V	ENSP00000260227:A181V	A	-	2	0	MMP7	101900948	0.000000	0.05858	0.019000	0.16419	0.621000	0.37620	-0.240000	0.08952	-0.299000	0.08909	-0.182000	0.12963	GCG		0.493	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			5	276	0	0	0	1	0	5	276				
MAN2B1	4125	broad.mit.edu	37	19	12760241	12760241	+	Splice_Site	SNP	G	G	A	rs569187294		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:12760241G>A	ENST00000456935.2	-	19	2309	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	MAN2B1_ENST00000221363.4_Splice_Site_p.R756W|CTD-2192J16.22_ENST00000597692.1_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	757					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGATAATCCCGCCTGGGGTTG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13369	0.0		0.0	False		,,,				2504	0.0					ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.e19-1		mannosidase, alpha, class 2B, member 1							49.0	39.0	43.0					19																	12760241		2203	4300	6503	SO:0001630	splice_region_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12760241G>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2268-1C>T	19.37:g.12760241G>A						MAN2B1_ENST00000221363.4_Splice_Site_p.R756_splice	p.R757_splice	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			19	2309	-			757					G5E928|O15330|Q16680|Q93094|Q9BW13	Splice_Site	SNP	ENST00000456935.2	37	c.2267_splice	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562672	0.45694	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.84589	-1.87;-1.87	4.55	0.923	0.19413	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.873700	0.09327	N	0.817467	D	0.92893	0.7739	M	0.93062	3.375	0.33548	D	0.595735	D;D	0.89917	1.0;1.0	D;D	0.75484	0.926;0.986	D	0.88505	0.3085	10	0.72032	D	0.01	-30.2459	7.2715	0.26260	0.0:0.1649:0.3651:0.47	.	756;757	G5E928;O00754	.;MA2B1_HUMAN	W	757;696;756	ENSP00000395473:R757W;ENSP00000221363:R756W	ENSP00000221363:R756W	R	-	1	2	MAN2B1	12621241	1.000000	0.71417	0.950000	0.38849	0.337000	0.28794	2.679000	0.46909	0.113000	0.18004	0.561000	0.74099	CGG		0.522	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		Missense_Mutation	20	96	0	0	0	1	0	20	96				
GRIK3	2899	broad.mit.edu	37	1	37356679	37356679	+	Missense_Mutation	SNP	G	G	A	rs371759736		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:37356679G>A	ENST00000373091.3	-	2	150	c.134C>T	c.(133-135)gCg>gTg	p.A45V	GRIK3_ENST00000373093.4_Missense_Mutation_p.A45V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	45					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GGGGCCGTCCGCATACTCGAA	0.502																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(133-135)gCg>gTg		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)	G	VAL/ALA	0,4406		0,0,2203	211.0	196.0	201.0		134	5.8	1.0	1		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRIK3	NM_000831.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	45/920	37356679	1,13005	2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356679G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.134C>T	1.37:g.37356679G>A	ENSP00000362183:p.Ala45Val					GRIK3_ENST00000373093.4_Missense_Mutation_p.A45V	p.A45V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			2	150	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	45					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.134C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608645	0.28623	0.0	1.16E-4	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.22134	1.97;1.97	5.83	5.83	0.93111	.	0.070591	0.64402	D	0.000009	T	0.11665	0.0284	N	0.08118	0	0.29036	N	0.885411	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12016	-1.0564	10	0.27082	T	0.32	.	13.3361	0.60518	0.0719:0.0:0.9281:0.0	.	45;45	A9Z1Z8;Q13003	.;GRIK3_HUMAN	V	45	ENSP00000362183:A45V;ENSP00000362185:A45V	ENSP00000362183:A45V	A	-	2	0	GRIK3	37129266	0.073000	0.21202	0.956000	0.39512	0.920000	0.55202	1.202000	0.32271	2.749000	0.94314	0.650000	0.86243	GCG		0.502	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		6	775	0	0	0	1	0	6	775				
CNTNAP5	129684	broad.mit.edu	37	2	125521591	125521591	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:125521591C>T	ENST00000431078.1	+	16	2761	c.2397C>T	c.(2395-2397)gcC>gcT	p.A799A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	799	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATACAGAAGCCTCTTACCTCC	0.428																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2395-2397)gcC>gcT		contactin associated protein-like 5							133.0	126.0	128.0					2																	125521591		1854	4094	5948	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521591C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2397C>T	2.37:g.125521591C>T							p.A799A	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2761	+			799			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2397C>T	CCDS46401.1																																																																																				0.428	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			5	359	0	0	0	1	0	5	359				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR323A_ENST00000362199.1_RNA|MIR380_ENST00000362112.2_RNA|MIR1197_ENST00000408818.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR329-1_ENST00000385028.1_RNA|MIR299_ENST00000385016.2_RNA|MIR758_ENST00000390227.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		8	555	0	0	0	1	0	8	555				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			6	192	0	0	0	1	0	6	192				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	821	0	0	0	1	0	8	821				
RIMS2	9699	broad.mit.edu	37	8	104709490	104709490	+	Missense_Mutation	SNP	G	G	A	rs377666095		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:104709490G>A	ENST00000406091.3	+	2	353	c.353G>A	c.(352-354)cGt>cAt	p.R118H		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	149	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTGTGCTCGTTGTGGAGGT	0.413										HNSCC(12;0.0054)																												ENST00000406091.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(352-354)cGt>cAt		regulating synaptic membrane exocytosis 2		G	HIS/ARG	1,3917		0,1,1958	202.0	194.0	197.0		353	5.5	1.0	8		197	0,8322		0,0,4161	no	missense	RIMS2	NM_001100117.2	29	0,1,6119	AA,AG,GG		0.0,0.0255,0.0082	probably-damaging	118/1350	104709490	1,12239	1959	4161	6120	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104709490G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.353G>A	8.37:g.104709490G>A	ENSP00000384892:p.Arg118His	HNSCC(12;0.0054)					p.R118H	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	353	+			149			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	c.353G>A	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260075	0.95368	2.55E-4	0.0	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.77620	-1.11;-1.11	5.49	5.49	0.81192	.	.	.	.	.	D	0.90428	0.7003	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91861	0.5499	9	0.87932	D	0	.	19.3601	0.94434	0.0:0.0:1.0:0.0	.	118	F8WD47	.	H	118;149;118;149	ENSP00000427018:R118H;ENSP00000384892:R118H	ENSP00000332184:R149H	R	+	2	0	RIMS2	104778666	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.869000	0.99810	2.559000	0.86315	0.462000	0.41574	CGT		0.413	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		90	363	0	0	0	1	0	90	363				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		7	693	0	0	0	1	0	7	693				
NLRP2	55655	broad.mit.edu	37	19	55494005	55494005	+	Silent	SNP	G	G	A	rs61735080	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:55494005G>A	ENST00000543010.1	+	6	1082	c.939G>A	c.(937-939)ccG>ccA	p.P313P	NLRP2_ENST00000339757.7_Silent_p.P291P|NLRP2_ENST00000263437.6_Silent_p.P310P|NLRP2_ENST00000538819.1_Silent_p.P289P|NLRP2_ENST00000391721.4_Silent_p.P289P|NLRP2_ENST00000537859.1_Silent_p.P291P|NLRP2_ENST00000448584.2_Silent_p.P313P|NLRP2_ENST00000427260.2_Silent_p.P290P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	313	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAAGAAGCCGGTGCCCGTCC	0.632																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(937-939)ccG>ccA		NLR family, pyrin domain containing 2		G	,,,	1,4405	2.1+/-5.4	0,1,2202	48.0	45.0	46.0		939,873,870,939	-3.1	0.0	19	dbSNP_129	46	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	,,,	313/1063,291/1041,290/1040,313/1063	55494005	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494005G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.939G>A	19.37:g.55494005G>A						NLRP2_ENST00000427260.2_Silent_p.P290P|NLRP2_ENST00000538819.1_Silent_p.P289P|NLRP2_ENST00000537859.1_Silent_p.P291P|NLRP2_ENST00000448584.2_Silent_p.P313P|NLRP2_ENST00000263437.6_Silent_p.P310P|NLRP2_ENST00000339757.7_Silent_p.P291P|NLRP2_ENST00000391721.4_Silent_p.P289P	p.P313P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1082	+			313			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.939G>A	CCDS12913.1																																																																																				0.632	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		69	263	0	0	0	1	0	69	263				
ANKRD20A11P	391267	broad.mit.edu	37	21	15352088	15352088	+	RNA	SNP	G	G	A	rs188144288		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:15352088G>A	ENST00000344693.5	-	0	670					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		CCATCTCCGCGGCGTCGCCCT	0.672																																						ENST00000344693.5																			0																																																			0							g.chr21:15352088G>A			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15352088G>A								NR_027270.1						0	670	-									RNA	SNP	ENST00000344693.5	37																																																																																						0.672	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			4	181	0	0	0	1	0	4	181				
EPHB4	2050	broad.mit.edu	37	7	100417815	100417815	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:100417815G>A	ENST00000358173.3	-	5	1380	c.912C>T	c.(910-912)tgC>tgT	p.C304C	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.C304C|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	304	Cys-rich.				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)					ACCCGACGCGGCACTGGCAGA	0.642																																					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.(910-912)tgC>tgT		EPH receptor B4							95.0	107.0	103.0					7																	100417815		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100417815G>A	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.912C>T	7.37:g.100417815G>A						EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.C304C	p.C304C	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			5	1380	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		304			Cys-rich.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.912C>T	CCDS5706.1																																																																																				0.642	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		6	807	0	0	0	1	0	6	807				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		9	230	0	0	0	1	0	9	230				
TXNDC2	84203	broad.mit.edu	37	18	9887527	9887527	+	Missense_Mutation	SNP	A	A	G	rs145411351		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr18:9887527A>G	ENST00000306084.6	+	2	1250	c.1051A>G	c.(1051-1053)Acc>Gcc	p.T351A	TXNDC2_ENST00000357775.5_Missense_Mutation_p.T284A|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	351	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAGAAGAAACCATCCAGCC	0.572																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1051-1053)Acc>Gcc		thioredoxin domain containing 2 (spermatozoa)							152.0	144.0	147.0					18																	9887527		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887527A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1051A>G	18.37:g.9887527A>G	ENSP00000304908:p.Thr351Ala					TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.T284A	p.T351A	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1250	+			351			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.1051A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	-	8.263	0.811606	0.16537	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16324	2.35;2.35	4.01	-4.72	0.03269	.	.	.	.	.	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.22152	0.038	T	0.37979	-0.9682	8	.	.	.	-0.766	2.7973	0.05405	0.4449:0.1147:0.3278:0.1126	.	351	Q86VQ3	TXND2_HUMAN	A	149;284;351;336	ENSP00000350419:T284A;ENSP00000304908:T351A	.	T	+	1	0	TXNDC2	9877527	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.555000	0.02170	-1.404000	0.02050	-1.110000	0.02074	ACC		0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	661	0	0	0	1	0	5	661				
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102.0	108.0	106.0					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T						ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		6	513	0	0	0	1	0	6	513				
AARS2	57505	broad.mit.edu	37	6	44270894	44270894	+	Missense_Mutation	SNP	G	G	A	rs145436818	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:44270894G>A	ENST00000244571.4	-	16	2166	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.R722W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATACCACCCGCACAGGGTCT	0.607													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18526	0.0		0.0	False		,,,				2504	0.0					ENST00000244571.4																			1	Substitution - Missense(1)	p.R722W(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2164-2166)Cgg>Tgg		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)	G	TRP/ARG	11,4395	17.9+/-39.9	0,11,2192	56.0	56.0	56.0		2164	5.3	1.0	6	dbSNP_134	56	0,8600		0,0,4300	yes	missense	AARS2	NM_020745.2	101	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	probably-damaging	722/986	44270894	11,12995	2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44270894G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2164C>T	6.37:g.44270894G>A	ENSP00000244571:p.Arg722Trp					TMEM151B_ENST00000438774.2_Intron	p.R722W	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		16	2166	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		722						Missense_Mutation	SNP	ENST00000244571.4	37	c.2164C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236023	0.79800	0.002497	0.0	ENSG00000124608	ENST00000244571	T	0.73681	-0.77	5.26	5.26	0.73747	Threonyl/alanyl tRNA synthetase, SAD (2);Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91733	0.5398	10	0.87932	D	0	-39.3663	14.8879	0.70584	0.0:0.0:0.8479:0.1521	.	722	Q5JTZ9	SYAM_HUMAN	W	722	ENSP00000244571:R722W	ENSP00000244571:R722W	R	-	1	2	AARS2	44378872	1.000000	0.71417	0.992000	0.48379	0.786000	0.44442	3.161000	0.50747	2.733000	0.93635	0.655000	0.94253	CGG		0.607	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		6	238	0	0	0	1	0	6	238				
TROAP	10024	broad.mit.edu	37	12	49722972	49722972	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:49722972C>T	ENST00000257909.3	+	10	1125	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	TROAP_ENST00000551245.1_Missense_Mutation_p.T350I|TROAP_ENST00000547923.1_Missense_Mutation_p.T58I	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	350					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CGGCGTCTCACCGTTCAACCT	0.552																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(1048-1050)aCc>aTc		trophinin associated protein							217.0	208.0	211.0					12																	49722972		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49722972C>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1049C>T	12.37:g.49722972C>T	ENSP00000257909:p.Thr350Ile					TROAP_ENST00000257909.3_Missense_Mutation_p.T350I|TROAP_ENST00000547923.1_Missense_Mutation_p.T58I	p.T350I			Q12815	TROAP_HUMAN			10	1160	+			350					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1049C>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302681	0.40795	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.33	5.33	0.75918	.	0.344021	0.24647	N	0.036744	T	0.34919	0.0914	L	0.29908	0.895	0.09310	N	1	P;P;P	0.36535	0.557;0.557;0.557	B;B;B	0.38616	0.277;0.277;0.215	T	0.28554	-1.0040	9	0.38643	T	0.18	-3.668	14.505	0.67746	0.0:1.0:0.0:0.0	.	350;58;350	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	I	350;350;58	.	ENSP00000257909:T350I	T	+	2	0	TROAP	48009239	0.006000	0.16342	0.017000	0.16124	0.005000	0.04900	2.161000	0.42358	2.497000	0.84241	0.462000	0.41574	ACC		0.552	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		8	833	0	0	0	1	0	8	833				
PCDHGB3	56102	broad.mit.edu	37	5	140751055	140751055	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140751055C>T	ENST00000576222.1	+	1	1225	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	365	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGACTGCCGTTGCCCTG	0.408																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1093-1095)gCc>gTc									41.0	42.0	42.0					5																	140751055		1926	4142	6068	SO:0001583	missense	0							g.chr5:140751055C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1094C>T	5.37:g.140751055C>T	ENSP00000461862:p.Ala365Val					PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A365V	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1225	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1094C>T	CCDS58980.1																																																																																				0.408	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		6	149	0	0	0	1	0	6	149				
MORC3	23515	broad.mit.edu	37	21	37741700	37741700	+	Silent	SNP	A	A	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:37741700A>T	ENST00000400485.1	+	15	2110	c.2034A>T	c.(2032-2034)atA>atT	p.I678I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	678					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGCAAAGATACATGAAACCC	0.413																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(2032-2034)atA>atT		MORC family CW-type zinc finger 3							80.0	74.0	76.0					21																	37741700		1934	4144	6078	SO:0001819	synonymous_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741700A>T	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2034A>T	21.37:g.37741700A>T						MORC3_ENST00000487909.1_3'UTR	p.I678I	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	2110	+			678					A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	37	c.2034A>T	CCDS42924.1																																																																																				0.413	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		42	201	0	0	0	1	0	42	201				
SMC2	10592	broad.mit.edu	37	9	106878520	106878520	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:106878520C>T	ENST00000286398.7	+	14	1999	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	SMC2_ENST00000374793.3_Missense_Mutation_p.R571C|SMC2_ENST00000374787.3_Missense_Mutation_p.R571C|SMC2_ENST00000303219.8_Missense_Mutation_p.R571C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	571	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAACTGAAACGTCGATACAC	0.348																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1711-1713)Cgt>Tgt		structural maintenance of chromosomes 2							79.0	87.0	84.0					9																	106878520		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106878520C>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1711C>T	9.37:g.106878520C>T	ENSP00000286398:p.Arg571Cys					SMC2_ENST00000303219.8_Missense_Mutation_p.R571C|SMC2_ENST00000374793.3_Missense_Mutation_p.R571C|SMC2_ENST00000374787.3_Missense_Mutation_p.R571C	p.R571C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			14	1999	+			571			Flexible hinge.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1711C>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989673	0.74589	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	4.97	4.97	0.65823	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.111906	0.64402	D	0.000007	D	0.93762	0.8006	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.64410	0.925;0.903	D	0.94700	0.7882	10	0.87932	D	0	-4.1672	16.9734	0.86306	0.0:1.0:0.0:0.0	.	571;571	O95347;Q2KQ72	SMC2_HUMAN;.	C	571	ENSP00000286398:R571C;ENSP00000363925:R571C;ENSP00000306152:R571C;ENSP00000363919:R571C	ENSP00000286398:R571C	R	+	1	0	SMC2	105918341	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.886000	0.63149	2.593000	0.87608	0.591000	0.81541	CGT		0.348	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			41	171	0	0	0	1	0	41	171				
ZNF142	7701	broad.mit.edu	37	2	219507509	219507509	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:219507509G>A	ENST00000449707.1	-	8	4151	c.3730C>T	c.(3730-3732)Cgc>Tgc	p.R1244C	ZNF142_ENST00000411696.2_Missense_Mutation_p.R1244C	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1244					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGGTGCAAGCGCAGTTTCGAG	0.542																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3730-3732)Cgc>Tgc		zinc finger protein 142							105.0	114.0	111.0					2																	219507509		2121	4232	6353	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507509G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3730C>T	2.37:g.219507509G>A	ENSP00000408643:p.Arg1244Cys					ZNF142_ENST00000449707.1_Missense_Mutation_p.R1244C	p.R1244C			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	4509	-		Renal(207;0.0474)	1244					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3730C>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715052	0.89112	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.61510	0.1;0.1	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.52266	1.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72398	-0.4306	10	0.56958	D	0.05	-53.5349	19.4628	0.94924	0.0:0.0:1.0:0.0	.	1244;1081	P52746;A8MWU9	ZN142_HUMAN;.	C	1244	ENSP00000408643:R1244C;ENSP00000398798:R1244C	ENSP00000398798:R1244C	R	-	1	0	ZNF142	219215753	1.000000	0.71417	0.970000	0.41538	0.979000	0.70002	7.406000	0.80017	2.837000	0.97791	0.655000	0.94253	CGC		0.542	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		6	779	0	0	0	1	0	6	779				
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:71347185T>C	ENST00000304887.5	+	3	914	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000413702.1_Missense_Mutation_p.S242P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(724-726)Tct>Cct		mucin 7, secreted							422.0	341.0	368.0					4																	71347185		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347185T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.724T>C	4.37:g.71347185T>C	ENSP00000302021:p.Ser242Pro					MUC7_ENST00000304887.5_Missense_Mutation_p.S242P|MUC7_ENST00000456088.1_Missense_Mutation_p.S242P	p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1012	+			242			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.724T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	9.595	1.127046	0.20959	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	1.88	-3.76	0.04359	.	.	.	.	.	T	0.26048	0.0635	N	0.24115	0.695	0.09310	N	1	B	0.24823	0.112	B	0.17722	0.019	T	0.17837	-1.0356	8	.	.	.	0.6471	6.6904	0.23167	0.7198:0.0:0.0:0.2802	.	242	Q8TAX7	MUC7_HUMAN	P	242	ENSP00000407422:S242P;ENSP00000400585:S242P;ENSP00000302021:S242P	.	S	+	1	0	MUC7	71381774	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.151000	0.01289	-0.798000	0.04444	-0.438000	0.05819	TCT		0.592	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		6	927	0	0	0	1	0	6	927				
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:46279830G>A	ENST00000371998.3	+	20	3947	c.3756G>A	c.(3754-3756)caG>caA	p.Q1252Q	NCOA3_ENST00000372004.3_Silent_p.Q1248Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q|NCOA3_ENST00000371997.3_Silent_p.Q1243Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|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)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547													g|||	52	0.0103834	0.0053	0.0086	5008	,	,		14808	0.006		0.0	False		,,,				2504	0.0337					ENST00000372004.3																			3	Substitution - coding silent(3)	p.Q1252Q(3)	lung(2)|prostate(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3742-3744)caG>caA		nuclear receptor coactivator 3							47.0	54.0	51.0					20																	46279830		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279830G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3756G>A	20.37:g.46279830G>A						NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q	p.Q1248Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3960	+			1252		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3744G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		5	258	0	0	0	1	0	5	258				
PCDHA9	9752	broad.mit.edu	37	5	140228551	140228551	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140228551G>A	ENST00000532602.1	+	1	1504	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.A157A|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	157	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGGGCGCGTCCGATGCAG	0.537																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(469-471)gcG>gcA									43.0	41.0	41.0					5																	140228551		2197	4279	6476	SO:0001819	synonymous_variant	0							g.chr5:140228551G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.471G>A	5.37:g.140228551G>A						PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.A157A|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.A157A	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1195	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.471G>A	CCDS54920.1																																																																																				0.537	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		50	255	0	0	0	1	0	50	255				
P4HA3	283208	broad.mit.edu	37	11	74013557	74013557	+	Missense_Mutation	SNP	G	G	A	rs576514835		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:74013557G>A	ENST00000331597.4	-	3	469	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	P4HA3_ENST00000427714.2_Missense_Mutation_p.R142W	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	142						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TCCTGCAGCCGCATCAGGGCC	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		19246	0.001		0.0	False		,,,				2504	0.0					ENST00000331597.4																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15						c.(424-426)Cgg>Tgg		prolyl 4-hydroxylase, alpha polypeptide III							111.0	109.0	110.0					11																	74013557		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	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-proline 4-dioxygenase activity	g.chr11:74013557G>A	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.424C>T	11.37:g.74013557G>A	ENSP00000332170:p.Arg142Trp					P4HA3_ENST00000427714.2_Missense_Mutation_p.R142W	p.R142W	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN			3	469	-	Breast(11;2.31e-05)		142					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.424C>T	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799253	0.70567	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.69926	-0.26;-0.44	4.96	3.02	0.34903	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81941	0.4929	M	0.87547	2.89	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.83460	0.0053	10	0.87932	D	0	-23.6292	11.0144	0.47681	0.0:0.0:0.5057:0.4943	.	142;142	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	W	142	ENSP00000332170:R142W;ENSP00000401749:R142W	ENSP00000332170:R142W	R	-	1	2	P4HA3	73691205	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.407000	0.21049	0.746000	0.32786	0.563000	0.77884	CGG		0.537	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		7	598	0	0	0	1	0	7	598				
ITIH5	80760	broad.mit.edu	37	10	7618670	7618670	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:7618670C>T	ENST00000256861.6	-	10	1802	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	ITIH5_ENST00000397146.2_Missense_Mutation_p.R575H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.R357H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R361H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R575H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	575					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCTCCAGAGACGCTCGATGTG	0.627																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1723-1725)cGt>cAt		inter-alpha-trypsin inhibitor heavy chain family, member 5							47.0	47.0	47.0					10																	7618670		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618670C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1724G>A	10.37:g.7618670C>T	ENSP00000256861:p.Arg575His					ITIH5_ENST00000446830.2_Missense_Mutation_p.R357H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R575H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R575H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R361H	p.R575H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1802	-			575					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1724G>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.087754	0.76642	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	.	.	.	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.83697	0.0180	9	0.87932	D	0	-15.0301	19.1863	0.93645	0.0:1.0:0.0:0.0	.	575;575;361	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	H	575;575;361;357;575	ENSP00000256861:R575H;ENSP00000380333:R575H;ENSP00000298441:R361H;ENSP00000387969:R357H;ENSP00000380332:R575H	ENSP00000256861:R575H	R	-	2	0	ITIH5	7658676	1.000000	0.71417	0.987000	0.45799	0.196000	0.23810	5.335000	0.65929	2.516000	0.84829	0.462000	0.41574	CGT		0.627	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		46	190	0	0	0	1	0	46	190				
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs555608997	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458													N|||	1273	0.254193	0.2209	0.2378	5008	,	,		7147	0.4355		0.2455	False		,,,				2504	0.1329					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1366-1368)gtA>gtG		contactin associated protein-like 3B																																				SO:0001819	synonymous_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43828112A>G	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1368A>G	9.37:g.43828112A>G							p.V456V	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			9	1761	+			456			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Silent	SNP	ENST00000377564.3	37	c.1368A>G	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	N	5.461	0.270213	0.10349	.	.	ENSG00000154529	ENST00000377561	.	.	.	2.6	-5.2	0.02823	.	.	.	.	.	T	0.15782	0.0380	.	.	.	0.51767	P	6.499999999998174E-5	.	.	.	.	.	.	T	0.22034	-1.0228	3	.	.	.	.	0.8201	0.01109	0.4314:0.1307:0.1593:0.2786	.	.	.	.	C	505	.	.	Y	+	2	0	CNTNAP3B	43768108	0.072000	0.21174	0.010000	0.14722	0.245000	0.25701	-0.184000	0.09698	-1.395000	0.02074	-1.123000	0.02005	TAT		0.458	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			5	101	0	0	0	1	0	5	101				
MGA	23269	broad.mit.edu	37	15	41961798	41961798	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:41961798G>A	ENST00000570161.1	+	1	706	c.706G>A	c.(706-708)Gta>Ata	p.V236I	MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.V236I|MGA_ENST00000545763.1_Missense_Mutation_p.V236I|MGA_ENST00000566586.1_Missense_Mutation_p.V236I|MGA_ENST00000219905.7_Missense_Mutation_p.V236I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTCTTTGCAGTAACAGCTTA	0.438																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(706-708)Gta>Ata		MGA, MAX dimerization protein							75.0	71.0	72.0					15																	41961798		1883	4119	6002	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961798G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.706G>A	15.37:g.41961798G>A	ENSP00000457035:p.Val236Ile					MGA_ENST00000545763.1_Missense_Mutation_p.V236I|MGA_ENST00000389936.4_Missense_Mutation_p.V236I|MGA_ENST00000566586.1_Missense_Mutation_p.V236I|MGA_ENST00000570161.1_Missense_Mutation_p.V236I|MGA_ENST00000568630.1_Intron	p.V236I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	887	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	236					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.706G>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827704	0.90955	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.94417	-3.42;-3.42;-3.42	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.98302	0.9437	H	0.95365	3.66	0.58432	D	0.999999	D;D	0.69078	0.993;0.997	D;D	0.79784	0.987;0.993	D	0.98730	1.0712	10	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	236;236	F5H7K2;E7ENI0	.;.	I	236	ENSP00000219905:V236I;ENSP00000374586:V236I;ENSP00000442467:V236I	ENSP00000219905:V236I	V	+	1	0	MGA	39749090	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.814000	0.96858	0.563000	0.77884	GTA		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		4	154	0	0	0	1	0	4	154				
TRIM51HP	440041	broad.mit.edu	37	11	55063026	55063026	+	RNA	SNP	T	T	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:55063026T>G	ENST00000526016.1	-	0	611					NR_038174.2				tripartite motif-containing 51H, pseudogene																		CCATTCTGGCTTTGCTTTCAT	0.423																																						ENST00000526016.1																			0																																																			0							g.chr11:55063026T>G			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55063026T>G								NR_038174.2						0	611	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.423	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			25	226	0	0	0	1	0	25	226				
PRKG2	5593	broad.mit.edu	37	4	82126039	82126039	+	Missense_Mutation	SNP	G	G	A	rs138293539		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:82126039G>A	ENST00000395578.1	-	2	279	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	PRKG2_ENST00000264399.1_Missense_Mutation_p.R55W|PRKG2_ENST00000418486.2_Missense_Mutation_p.R55W			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	55					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGCTGCTCCCGCAGCTCCTTC	0.547																																						ENST00000395578.1																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(163-165)Cgg>Tgg		protein kinase, cGMP-dependent, type II		G	TRP/ARG	0,4406		0,0,2203	110.0	109.0	109.0		163	3.3	1.0	4	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	no	missense	PRKG2	NM_006259.1	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	55/763	82126039	2,13004	2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82126039G>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.163C>T	4.37:g.82126039G>A	ENSP00000378945:p.Arg55Trp					PRKG2_ENST00000418486.2_Missense_Mutation_p.R55W|PRKG2_ENST00000264399.1_Missense_Mutation_p.R55W	p.R55W			Q13237	KGP2_HUMAN			2	279	-			55					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.163C>T	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843526	0.51057	0.0	2.33E-4	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.83163	-1.69;-1.69;-1.69	5.1	3.3	0.37823	.	0.121430	0.56097	D	0.000029	T	0.67627	0.2913	N	0.08118	0	0.80722	D	1	P;D	0.53151	0.914;0.958	B;B	0.40741	0.339;0.339	T	0.72763	-0.4195	10	0.87932	D	0	-18.0268	13.5445	0.61695	0.0:0.0:0.7159:0.2841	.	55;55	E7EPE6;Q13237	.;KGP2_HUMAN	W	55	ENSP00000378945:R55W;ENSP00000264399:R55W;ENSP00000389038:R55W	ENSP00000264399:R55W	R	-	1	2	PRKG2	82345063	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	3.159000	0.50731	0.678000	0.31325	0.585000	0.79938	CGG		0.547	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		5	506	0	0	0	1	0	5	506				
RGAG1	57529	broad.mit.edu	37	X	109695238	109695238	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:109695238G>A	ENST00000465301.2	+	3	1639	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	465										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGTAATGTCCGCACAGTTAAC	0.512																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1393-1395)Gca>Aca		retrotransposon gag domain containing 1							151.0	131.0	138.0					X																	109695238		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695238G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1393G>A	X.37:g.109695238G>A	ENSP00000419786:p.Ala465Thr					RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1639	+			465					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1393G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.136859	0.01742	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.32515	1.45;1.45	3.97	-4.1	0.03940	.	0.573732	0.13288	N	0.399198	T	0.06645	0.0170	N	0.00926	-1.1	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32587	-0.9901	9	.	.	.	-4.4633	3.6067	0.08045	0.2422:0.0:0.3007:0.4571	.	465	Q8NET4	RGAG1_HUMAN	T	465	ENSP00000419786:A465T;ENSP00000441452:A465T	.	A	+	1	0	RGAG1	109581894	0.810000	0.29049	0.009000	0.14445	0.055000	0.15305	0.501000	0.22578	-0.859000	0.04105	-1.087000	0.02190	GCA		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		6	395	0	0	0	1	0	6	395				
DENND4B	9909	broad.mit.edu	37	1	153916630	153916630	+	Missense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:153916630C>A	ENST00000361217.4	-	2	639	c.221G>T	c.(220-222)gGc>gTc	p.G74V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	74	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGGTGGCCCCCAGCAGA	0.642																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(220-222)gGc>gTc		DENN/MADD domain containing 4B							37.0	43.0	41.0					1																	153916630		1960	4151	6111	SO:0001583	missense	9909							g.chr1:153916630C>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.221G>T	1.37:g.153916630C>A	ENSP00000354597:p.Gly74Val						p.G74V	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	639	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		74			MABP.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.221G>T	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869151	0.72065	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.26957	1.7;1.7	4.16	4.16	0.48862	MABP domain (1);	.	.	.	.	T	0.44973	0.1319	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51545	-0.8692	9	0.87932	D	0	-4.3181	15.7271	0.77770	0.0:1.0:0.0:0.0	.	74	O75064	DEN4B_HUMAN	V	74;85	ENSP00000354597:G74V;ENSP00000357635:G85V	ENSP00000354597:G74V	G	-	2	0	DENND4B	152183254	1.000000	0.71417	0.999000	0.59377	0.494000	0.33585	5.711000	0.68400	2.310000	0.77875	0.462000	0.41574	GGC		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		7	163	1	0	1.12685e-05	1	1.19422e-05	7	163				
PDE3A	5139	broad.mit.edu	37	12	20766557	20766557	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:20766557G>A	ENST00000359062.3	+	3	1232	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	398					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AGTGAATCCCGTCACTTCGCT	0.483																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1192-1194)Gtc>Atc		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						93.0	91.0	92.0					12																	20766557		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766557G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1192G>A	12.37:g.20766557G>A	ENSP00000351957:p.Val398Ile					PDE3A_ENST00000544307.1_3'UTR	p.V398I	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			3	1232	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	398					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1192G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.335619	0.24253	.	.	ENSG00000172572	ENST00000359062	T	0.60672	0.17	5.87	-2.0	0.07433	.	32.968800	0.00166	N	0.000000	T	0.35970	0.0950	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12630	-1.0540	10	0.41790	T	0.15	.	0.8684	0.01209	0.3374:0.1811:0.3009:0.1806	.	398	Q14432	PDE3A_HUMAN	I	398	ENSP00000351957:V398I	ENSP00000351957:V398I	V	+	1	0	PDE3A	20657824	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-0.153000	0.10144	-0.240000	0.09696	-0.182000	0.12963	GTC		0.483	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			6	321	0	0	0	1	0	6	321				
SGSM1	129049	broad.mit.edu	37	22	25280108	25280108	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:25280108C>T	ENST00000400359.4	+	16	1756	c.1749C>T	c.(1747-1749)tgC>tgT	p.C583C	SGSM1_ENST00000400358.4_Silent_p.C528C	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	583						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACTTGCCCTGCGATGCTGGAC	0.582																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(1582-1584)tgC>tgT		small G protein signaling modulator 1							69.0	69.0	69.0					22																	25280108		2052	4189	6241	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25280108C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1749C>T	22.37:g.25280108C>T						SGSM1_ENST00000400359.4_Silent_p.C583C	p.C528C	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			15	1641	+			583					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.1584C>T	CCDS46674.1																																																																																				0.582	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		29	154	0	0	0	1	0	29	154				
RGPD3	653489	broad.mit.edu	37	2	107049632	107049632	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:107049632G>A	ENST00000409886.3	-	16	2402	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGAATCCGCATTTCGCAA	0.373																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gCg>gTg		RANBP2-like and GRIP domain containing 3							90.0	75.0	80.0					2																	107049632		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049632G>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2315C>T	2.37:g.107049632G>A	ENSP00000386588:p.Ala772Val					RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2402	-			772					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2315C>T	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	3.284	-0.146450	0.06627	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23348	1.91;1.91	2.34	1.42	0.22433	.	.	.	.	.	T	0.19127	0.0459	L	0.47716	1.5	0.22947	N	0.998528	B	0.15141	0.012	B	0.06405	0.002	T	0.16778	-1.0391	9	0.37606	T	0.19	-0.1623	4.3139	0.10984	0.2042:0.0:0.7958:0.0	.	772	A6NKT7	RGPD3_HUMAN	V	772;530;772	ENSP00000386588:A772V;ENSP00000303659:A772V	ENSP00000303659:A772V	A	-	2	0	RGPD3	106416064	0.918000	0.31147	0.919000	0.36401	0.028000	0.11728	0.415000	0.21181	1.308000	0.44962	0.173000	0.16961	GCG		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		8	1051	0	0	0	1	0	8	1051				
AOC2	314	broad.mit.edu	37	17	40997803	40997803	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:40997803G>A	ENST00000253799.3	+	1	1187	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	AOC2_ENST00000452774.2_Missense_Mutation_p.R387H	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	387					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTCGGCCGTAACAGCCGA	0.542																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(1159-1161)cGt>cAt		amine oxidase, copper containing 2 (retina-specific)							72.0	71.0	71.0					17																	40997803		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997803G>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1160G>A	17.37:g.40997803G>A	ENSP00000253799:p.Arg387His					AOC2_ENST00000452774.2_Missense_Mutation_p.R387H	p.R387H	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1187	+		Breast(137;0.000143)	387					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.1160G>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	6.237	0.411948	0.11812	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03982	3.74;3.74	5.29	-3.98	0.04082	Copper amine oxidase, C-terminal (3);	0.269428	0.36034	N	0.002840	T	0.03305	0.0096	L	0.46885	1.475	0.09310	N	0.99999	B;B	0.15719	0.014;0.011	B;B	0.20955	0.032;0.019	T	0.45145	-0.9281	10	0.15499	T	0.54	-12.3524	4.1699	0.10324	0.3387:0.0:0.3364:0.3249	.	387;387	O75106;O75106-2	AOC2_HUMAN;.	H	387	ENSP00000253799:R387H;ENSP00000406134:R387H	ENSP00000253799:R387H	R	+	2	0	AOC2	38251329	0.000000	0.05858	0.007000	0.13788	0.118000	0.20060	0.278000	0.18753	-1.127000	0.02925	0.543000	0.68304	CGT		0.542	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		5	443	0	0	0	1	0	5	443				
BARHL2	343472	broad.mit.edu	37	1	91182781	91182781	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:91182781G>A	ENST00000370445.4	-	0	13					NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2						cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CCACTCCGCCGTTCAGCAGCC	0.512																																					GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24								BarH-like homeobox 2							39.0	44.0	42.0					1																	91182781		2202	4292	6494			343472					nucleus	sequence-specific DNA binding	g.chr1:91182781G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020		1.37:g.91182781G>A								NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	0	13	-		all_lung(203;0.0263)|Lung SC(238;0.128)						A0AVP2|Q7Z4N7	Translation_Start_Site	SNP	ENST00000370445.4	37		CCDS730.1																																																																																				0.512	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			5	352	0	0	0	1	0	5	352				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	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)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	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.8337G>A	12.37:g.132547141G>A						EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	309	0	0	0	1	0	6	309				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	493	0	0	0	1	0	5	493				
ALG12	79087	broad.mit.edu	37	22	50298080	50298080	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:50298080G>A	ENST00000330817.6	-	8	1340	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	356					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGTAGGCGGCATTCACCAC	0.537																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1066-1068)gCc>gTc		ALG12, alpha-1,6-mannosyltransferase							65.0	59.0	61.0					22																	50298080		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50298080G>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1067C>T	22.37:g.50298080G>A	ENSP00000333813:p.Ala356Val						p.A356V	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	8	1340	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	356					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.1067C>T	CCDS14081.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.007|2.007	-0.428049|-0.428049	0.04701|0.04701	.|.	.|.	ENSG00000182858|ENSG00000182858	ENST00000330817|ENST00000332276	T|.	0.58652|.	0.32|.	4.77|4.77	3.75|3.75	0.43078|0.43078	.|.	0.105493|.	0.64402|.	N|.	0.000005|.	T|T	0.55178|0.55178	0.1904|0.1904	L|L	0.31476|0.31476	0.935|0.935	0.46654|0.46654	D|D	0.999148|0.999148	B|.	0.14805|.	0.011|.	B|.	0.16289|.	0.015|.	T|T	0.59511|0.59511	-0.7441|-0.7441	10|6	0.08381|0.87932	T|D	0.77|0	-15.2675|-15.2675	12.3635|12.3635	0.55217|0.55217	0.0843:0.0:0.9156:0.0|0.0843:0.0:0.9156:0.0	.|.	356|.	Q9BV10|.	ALG12_HUMAN|.	V|S	356|2	ENSP00000333813:A356V|.	ENSP00000333813:A356V|ENSP00000329560:P2S	A|P	-|-	2|1	0|0	ALG12|ALG12	48684084|48684084	0.980000|0.980000	0.34600|0.34600	0.003000|0.003000	0.11579|0.11579	0.004000|0.004000	0.04260|0.04260	3.622000|3.622000	0.54217|0.54217	1.104000|1.104000	0.41587|0.41587	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.537	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		5	290	0	0	0	1	0	5	290				
RNF213	57674	broad.mit.edu	37	17	78348328	78348328	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:78348328G>A	ENST00000582970.1	+	50	13156	c.13013G>A	c.(13012-13014)cGt>cAt	p.R4338H	RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4338					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGCTCTCCGTGATGCTGTG	0.577																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13012-13014)cGt>cAt		ring finger protein 213							133.0	105.0	114.0					17																	78348328		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78348328G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13013G>A	17.37:g.78348328G>A	ENSP00000464087:p.Arg4338His					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H	p.R4338H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		50	13156	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13013G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164767	0.78339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.35236	1.32	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.84219	2.685	0.35619	D	0.809306	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76310	-0.3006	10	0.72032	D	0.01	.	16.3893	0.83528	0.0:0.0:1.0:0.0	.	4387;2411	C9JCP4;Q63HN8	.;RN213_HUMAN	H	4338;4387;2411	ENSP00000338218:R2411H	ENSP00000338218:R2411H	R	+	2	0	RNF213	75962923	1.000000	0.71417	0.113000	0.21522	0.520000	0.34377	7.735000	0.84939	2.357000	0.79964	0.561000	0.74099	CGT		0.577	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		75	279	0	0	0	1	0	75	279				
ISLR	3671	broad.mit.edu	37	15	74467397	74467397	+	Silent	SNP	G	G	A	rs200581049		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:74467397G>A	ENST00000249842.3	+	2	555	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ISLR_ENST00000395118.1_Silent_p.P66P|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	66					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAGGCTTGCCGGAGGGTGCCT	0.667																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(196-198)ccG>ccA		immunoglobulin superfamily containing leucine-rich repeat		G	,	0,4396		0,0,2198	42.0	41.0	41.0		198,198	-8.0	0.0	15	dbSNP_134	41	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	ISLR	NM_005545.3,NM_201526.1	,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,	66/429,66/429	74467397	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467397G>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.198G>A	15.37:g.74467397G>A						RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P66P	p.P66P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	555	+			66						Silent	SNP	ENST00000249842.3	37	c.198G>A	CCDS10260.1																																																																																				0.667	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		6	401	0	0	0	1	0	6	401				
SAMSN1	64092	broad.mit.edu	37	21	15884872	15884872	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:15884872G>A	ENST00000400566.1	-	4	383	c.302C>T	c.(301-303)gCc>gTc	p.A101V	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.A169V	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	101					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATATGGGTGGGCATTCTCTCC	0.448																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(505-507)gCc>gTc		SAM domain, SH3 domain and nuclear localization signals 1							173.0	169.0	170.0					21																	15884872		1912	4122	6034	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15884872G>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.302C>T	21.37:g.15884872G>A	ENSP00000383411:p.Ala101Val					SAMSN1_ENST00000400566.1_Missense_Mutation_p.A101V|SAMSN1_ENST00000400564.1_Intron	p.A169V	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	5	680	-			101			SH3.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.506C>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	5.602	0.295914	0.10622	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.44881	0.91;0.91	5.72	1.77	0.24775	.	1.003330	0.08026	N	0.992717	T	0.37433	0.1003	L	0.49350	1.555	0.09310	N	1	B;B	0.17667	0.023;0.002	B;B	0.12156	0.007;0.004	T	0.30297	-0.9983	10	0.33940	T	0.23	-14.6082	9.394	0.38390	0.3109:0.0:0.6891:0.0	.	169;101	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	V	169;101	ENSP00000285670:A169V;ENSP00000383411:A101V	ENSP00000285670:A169V	A	-	2	0	SAMSN1	14806743	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.015000	0.13355	0.043000	0.15746	-0.355000	0.07637	GCC		0.448	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			5	422	0	0	0	1	0	5	422				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		9	229	0	0	0	1	0	9	229				
SDHAP1	255812	broad.mit.edu	37	3	195711082	195711082	+	RNA	SNP	G	G	A	rs573969227		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:195711082G>A	ENST00000427841.1	-	0	650					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GGCTGTGTCCGCCAAATGCAC	0.483													-|||	1	0.000199681	0.0	0.0	5008	,	,		34381	0.001		0.0	False		,,,				2504	0.0				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711082G>A	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.195711082G>A								NR_003264.2						0	650	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.483	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	383	0	0	0	1	0	5	383				
UNC5B	219699	broad.mit.edu	37	10	73047443	73047443	+	Silent	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:73047443C>A	ENST00000335350.6	+	6	1238	c.822C>A	c.(820-822)acC>acA	p.T274T	UNC5B_ENST00000373192.4_Silent_p.T274T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	274	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGACCTGCACCAACCCCGCTC	0.662																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(820-822)acC>acA		unc-5 homolog B (C. elegans)							73.0	70.0	71.0					10																	73047443		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73047443C>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.822C>A	10.37:g.73047443C>A						UNC5B_ENST00000373192.4_Silent_p.T274T	p.T274T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			6	1238	+			274			TSP type-1 1.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.822C>A	CCDS7309.1																																																																																				0.662	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		6	463	1	0	4.096e-09	1	4.43733e-09	6	463				
CPN2	1370	broad.mit.edu	37	3	194062235	194062235	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:194062235G>A	ENST00000323830.3	-	2	1286	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	CPN2_ENST00000429275.1_Silent_p.C399C	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	399	LRRCT.				protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGTGGCAGTCGCACTGCCAGG	0.597																																						ENST00000323830.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(1195-1197)tgC>tgT		carboxypeptidase N, polypeptide 2							74.0	78.0	77.0					3																	194062235		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062235G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1197C>T	3.37:g.194062235G>A						CPN2_ENST00000429275.1_Silent_p.C399C	p.C399C	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1286	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		399			LRRCT.		B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.1197C>T	CCDS33920.1																																																																																				0.597	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		67	234	0	0	0	1	0	67	234				
USP30	84749	broad.mit.edu	37	12	109520716	109520716	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:109520716G>A	ENST00000257548.5	+	11	1110	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	USP30_ENST00000392784.2_Silent_p.R308R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	339	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R330R(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTCTGAAGCGGCATGAGCACG	0.532																																						ENST00000257548.5																			1	Substitution - coding silent(1)	p.R330R(1)	lung(1)	endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(1015-1017)cgG>cgA		ubiquitin specific peptidase 30							80.0	64.0	69.0					12																	109520716		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109520716G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1017G>A	12.37:g.109520716G>A						USP30_ENST00000392784.2_Silent_p.R308R	p.R339R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			11	1110	+			339					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.1017G>A	CCDS9123.2																																																																																				0.532	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		5	227	0	0	0	1	0	5	227				
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATGTGTAGGGTCT	0.428																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1396-1398)aCa>aAa		zinc finger protein 479							61.0	62.0	61.0					7																	57187725		2091	4234	6325	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187725G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1397C>A	7.37:g.57187725G>T	ENSP00000333776:p.Thr466Lys						p.T466K	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1667	-			466						Missense_Mutation	SNP	ENST00000331162.4	37	c.1397C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.806322	0.00074	.	.	ENSG00000185177	ENST00000331162	T	0.20738	2.05	0.955	-1.78	0.07957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.01267	-0.92	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.35699	-0.9778	9	0.02654	T	1	.	5.6195	0.17450	0.0:0.0:0.5844:0.4156	.	466	Q96JC4	ZN479_HUMAN	K	466	ENSP00000333776:T466K	ENSP00000333776:T466K	T	-	2	0	ZNF479	57191667	0.000000	0.05858	0.065000	0.19835	0.062000	0.15995	-1.024000	0.03603	-0.948000	0.03668	-0.940000	0.02684	ACA		0.428	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	425	1	0	0.00448238	1	0.00457625	5	425				
ZBED9	114821	broad.mit.edu	37	6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTAATGACCGCAAAAAAGTT	0.373																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1219-1221)Cgg>Tgg		SCAN domain containing 3							47.0	50.0	49.0					6																	28543263		2200	4300	6500	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543263G>A																												ENST00000452236.2:c.1219C>T	6.37:g.28543263G>A	ENSP00000395259:p.Arg407Trp						p.R407W	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1836	-			407			Integrase catalytic.			Missense_Mutation	SNP	ENST00000452236.2	37	c.1219C>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739153	0.49045	.	.	ENSG00000232040	ENST00000452236	T	0.41065	1.01	3.45	1.47	0.22746	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.45538	0.1347	M	0.71581	2.175	0.27885	N	0.939548	D	0.89917	1.0	D	0.75020	0.985	T	0.29027	-1.0025	9	0.87932	D	0	.	9.1527	0.36973	0.0:0.0:0.3848:0.6152	.	407	Q6R2W3	SCND3_HUMAN	W	407	ENSP00000395259:R407W	ENSP00000395259:R407W	R	-	1	2	SCAND3	28651242	0.490000	0.26012	0.999000	0.59377	0.981000	0.71138	0.152000	0.16302	0.208000	0.20626	0.655000	0.94253	CGG		0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			5	277	0	0	0	1	0	5	277				
ANKAR	150709	broad.mit.edu	37	2	190560943	190560943	+	Missense_Mutation	SNP	G	G	A	rs368091573		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:190560943G>A	ENST00000520309.1	+	7	1644	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H	ANKAR_ENST00000313581.4_Missense_Mutation_p.R519H|ANKAR_ENST00000438402.2_Missense_Mutation_p.R519H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R448H|ANKAR_ENST00000281412.6_Missense_Mutation_p.R283H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	519						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACATTTAGCCGTAAAACCTCA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		16874	0.0		0.001	False		,,,				2504	0.0					ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1555-1557)cGt>cAt		ankyrin and armadillo repeat containing		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	131.0	132.0		1556	5.3	1.0	2	dbSNP_132	132	0,8600		0,0,4300	no	missense	ANKAR	NM_144708.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	519/1435	190560943	1,13005	2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190560943G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1556G>A	2.37:g.190560943G>A	ENSP00000427882:p.Arg519His					ANKAR_ENST00000281412.6_Missense_Mutation_p.R283H|ANKAR_ENST00000438402.2_Missense_Mutation_p.R519H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R448H|ANKAR_ENST00000313581.4_Missense_Mutation_p.R519H	p.R519H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		7	1644	+			519					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1556G>A	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605014	0.66445	2.27E-4	0.0	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.26	5.26	0.73747	.	0.258488	0.27996	N	0.017011	T	0.52805	0.1757	L	0.34521	1.04	0.46356	D	0.999003	.	.	.	.	.	.	T	0.54503	-0.8284	8	0.59425	D	0.04	-13.6005	17.6415	0.88138	0.0:0.0:1.0:0.0	.	.	.	.	H	519;519;519;448;283	ENSP00000427882:R519H;ENSP00000313513:R519H;ENSP00000397243:R519H;ENSP00000393043:R448H;ENSP00000281412:R283H	ENSP00000281412:R283H	R	+	2	0	ANKAR	190269188	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.017000	0.64047	2.456000	0.83038	0.557000	0.71058	CGT		0.378	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		6	458	0	0	0	1	0	6	458				
APOD	347	broad.mit.edu	37	3	195295972	195295972	+	Silent	SNP	G	G	A	rs138771984	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:195295972G>A	ENST00000343267.3	-	5	730	c.369C>T	c.(367-369)acC>acT	p.T123T		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	123					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTCATAGTCGGTGGCCAGGA	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		17644	0.0		0.0	False		,,,				2504	0.002					ENST00000343267.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(367-369)acC>acT		apolipoprotein D		G		1,4405	2.1+/-5.4	0,1,2202	120.0	117.0	118.0		369	0.8	1.0	3	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOD	NM_001647.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		123/190	195295972	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	347				lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding	g.chr3:195295972G>A		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"""Lipocalins"", ""Apolipoproteins"""	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.369C>T	3.37:g.195295972G>A							p.T123T	NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	5	730	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	123					B2R579|D3DNW6|Q6IBG6	Silent	SNP	ENST00000343267.3	37	c.369C>T	CCDS33925.1																																																																																				0.493	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647		5	450	0	0	0	1	0	5	450				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1378-1380)Aca>Gca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A	p.T460A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		15	674	0	0	0	1	0	15	674				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	169	0	0	0	1	0	4	169				
TRIOBP	11078	broad.mit.edu	37	22	38151606	38151606	+	Missense_Mutation	SNP	G	G	A	rs150426001	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:38151606G>A	ENST00000406386.3	+	15	5882	c.5627G>A	c.(5626-5628)cGg>cAg	p.R1876Q	TRIOBP_ENST00000407319.2_Missense_Mutation_p.R163Q|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R163Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1876	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCATCCGGCGGAACTGGATC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		20484	0.002		0.0	False		,,,				2504	0.0					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(5626-5628)cGg>cAg		TRIO and F-actin binding protein		G	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	86.0	98.0		5627,488,488	4.7	1.0	22	dbSNP_134	98	0,8600		0,0,4300	yes	missense,missense,missense	TRIOBP	NM_001039141.2,NM_007032.5,NM_138632.2	43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1876/2366,163/653,163/432	38151606	1,13005	2203	4300	6503	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38151606G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5627G>A	22.37:g.38151606G>A	ENSP00000384312:p.Arg1876Gln					RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R163Q|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R163Q	p.R1876Q	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			15	5882	+	Melanoma(58;0.0574)		1876			PH.		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.5627G>A	CCDS43015.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	35	5.474222	0.96291	2.27E-4	0.0	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	4.69	4.69	0.59074	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.82384	0.5025	L	0.42632	1.34	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.994;0.996;0.994	D	0.84551	0.0644	9	0.72032	D	0.01	.	17.9959	0.89184	0.0:0.0:1.0:0.0	.	163;163;1876	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	Q	1876;163;163;122;92	ENSP00000384312:R1876Q;ENSP00000383913:R163Q;ENSP00000386026:R163Q;ENSP00000396946:R122Q;ENSP00000387881:R92Q	ENSP00000386026:R163Q	R	+	2	0	TRIOBP	36481552	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.307000	0.96226	2.310000	0.77875	0.561000	0.74099	CGG		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	264	0	0	0	1	0	4	264				
KPNB1	3837	broad.mit.edu	37	17	45755737	45755737	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:45755737G>A	ENST00000290158.4	+	19	2718	c.2311G>A	c.(2311-2313)Gga>Aga	p.G771R	KPNB1_ENST00000535458.2_Missense_Mutation_p.G626R|KPNB1_ENST00000537679.1_Missense_Mutation_p.G555R|KPNB1_ENST00000540627.1_Missense_Mutation_p.G626R	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	771					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGCCTATACTGGAATCGTCCA	0.478																																						ENST00000290158.4																			0				breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(2311-2313)Gga>Aga		karyopherin (importin) beta 1							121.0	108.0	112.0					17																	45755737		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45755737G>A	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.2311G>A	17.37:g.45755737G>A	ENSP00000290158:p.Gly771Arg					KPNB1_ENST00000540627.1_Missense_Mutation_p.G626R|KPNB1_ENST00000537679.1_Missense_Mutation_p.G555R|KPNB1_ENST00000535458.2_Missense_Mutation_p.G626R	p.G771R	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN			19	2718	+			771					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.2311G>A	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675623	0.47781	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87716	0.6247	H	0.94925	3.6	0.46954	D	0.999263	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89952	0.4080	9	0.62326	D	0.03	-14.1215	19.9705	0.97284	0.0:0.0:1.0:0.0	.	555;771	F5H4R7;Q14974	.;IMB1_HUMAN	R	626;771;626;555	ENSP00000438253:G626R;ENSP00000290158:G771R;ENSP00000438964:G626R;ENSP00000445006:G555R	ENSP00000290158:G771R	G	+	1	0	KPNB1	43110736	1.000000	0.71417	0.992000	0.48379	0.920000	0.55202	9.841000	0.99482	2.728000	0.93425	0.655000	0.94253	GGA		0.478	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		5	379	0	0	0	1	0	5	379				
ECE2	9718	broad.mit.edu	37	3	184009866	184009866	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:184009866G>A	ENST00000402825.3	+	19	2492	c.2492G>A	c.(2491-2493)cGc>cAc	p.R831H	ECE2_ENST00000357474.5_Missense_Mutation_p.R759H|ECE2_ENST00000404464.3_Missense_Mutation_p.R713H|ECE2_ENST00000359140.4_Missense_Mutation_p.R684H|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	831	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.R684H(1)|p.R759H(1)|p.R831H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTCGGTCCGCACACCAGAG	0.662																																						ENST00000402825.3																			3	Substitution - Missense(3)	p.R684H(1)|p.R759H(1)|p.R831H(1)	breast(3)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(2491-2493)cGc>cAc		endothelin converting enzyme 2							37.0	38.0	38.0					3																	184009866		2203	4299	6502	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184009866G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2492G>A	3.37:g.184009866G>A	ENSP00000384223:p.Arg831His					ECE2_ENST00000404464.3_Missense_Mutation_p.R713H|ECE2_ENST00000357474.5_Missense_Mutation_p.R759H|ECE2_ENST00000359140.4_Missense_Mutation_p.R684H|EIF2B5_ENST00000444495.1_Intron	p.R831H	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	2492	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		831			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.2492G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863047	0.91511	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	4.85	4.85	0.62838	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.964;1.0;1.0;1.0	B;D;D;D	0.75020	0.418;0.984;0.971;0.985	D	0.90975	0.4823	10	0.18276	T	0.48	-16.7804	15.5139	0.75806	0.0:0.0:1.0:0.0	.	713;759;684;831	O60344-2;O60344-5;O60344-3;O60344	.;.;.;ECE2_HUMAN	H	831;684;713;759	ENSP00000384223:R831H;ENSP00000352052:R684H;ENSP00000385846:R713H;ENSP00000350066:R759H	ENSP00000350066:R759H	R	+	2	0	ECE2	185492560	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.925000	0.63425	2.515000	0.84797	0.491000	0.48974	CGC		0.662	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		5	287	0	0	0	1	0	5	287				
SLC25A48	153328	broad.mit.edu	37	5	135188312	135188312	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:135188312G>A	ENST00000420621.1	+	4	395	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.V21M|SLC25A48_ENST00000274513.5_Missense_Mutation_p.V75M|SLC25A48_ENST00000412661.2_Missense_Mutation_p.V75M			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	75					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CTACAACTCCGTGGTGTTTGG	0.617																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(223-225)Gtg>Atg		solute carrier family 25, member 48							123.0	131.0	128.0					5																	135188312		2040	4197	6237	SO:0001583	missense	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135188312G>A		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.223G>A	5.37:g.135188312G>A	ENSP00000407973:p.Val75Met					SLC25A48_ENST00000412661.2_Missense_Mutation_p.V75M|SLC25A48_ENST00000433282.2_Missense_Mutation_p.V21M|SLC25A48_ENST00000420621.1_Missense_Mutation_p.V75M|SLC25A48_ENST00000425402.1_Intron	p.V75M			Q6ZT89	S2548_HUMAN			4	395	+			75					Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	37	c.223G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.078213	0.76528	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.80566	-1.39;-1.39;-1.35;-1.39	5.08	5.08	0.68730	.	0.063063	0.64402	D	0.000004	D	0.85344	0.5675	L	0.55834	1.745	0.53688	D	0.999975	D;D	0.67145	0.988;0.996	P;P	0.56648	0.63;0.803	D	0.86464	0.1781	10	0.56958	D	0.05	-25.7293	18.4819	0.90815	0.0:0.0:1.0:0.0	.	75;75	Q6ZT89-3;Q6ZT89-2	.;.	M	75;75;21;75	ENSP00000274513:V75M;ENSP00000407973:V75M;ENSP00000399834:V21M;ENSP00000413049:V75M	ENSP00000274513:V75M	V	+	1	0	SLC25A48	135216211	1.000000	0.71417	0.911000	0.35937	0.938000	0.57974	3.128000	0.50492	2.359000	0.80004	0.462000	0.41574	GTG		0.617	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		6	766	0	0	0	1	0	6	766				
NQO1	1728	broad.mit.edu	37	16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T	rs541026990	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	ACAAGGTCTGCGGCTTCCAGC	0.488													C|||	3	0.000599042	0.0	0.0	5008	,	,		19199	0.0		0.0	False		,,,				2504	0.0031					ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(283-285)Gca>Aca		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						174.0	182.0	180.0					16																	69752046		2198	4300	6498	SO:0001583	missense	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69752046C>T	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.283G>A	16.37:g.69752046C>T	ENSP00000319788:p.Ala95Thr					NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T	p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			3	794	-			95					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	c.283G>A	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531448	0.96446	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	6.03	5.08	0.68730	Flavodoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.992;0.996;0.999	T	0.64960	-0.6284	9	.	.	.	-7.291	15.2408	0.73468	0.0:0.9322:0.0:0.0678	.	95;95;95;95	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	T	95	ENSP00000319788:A95T;ENSP00000368335:A95T;ENSP00000368334:A95T;ENSP00000398330:A95T	.	A	-	1	0	NQO1	68309547	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	5.380000	0.66202	1.562000	0.49601	0.655000	0.94253	GCA		0.488	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			7	1045	0	0	0	1	0	7	1045				
DNM1P47	100216544	broad.mit.edu	37	15	102300677	102300677	+	RNA	SNP	C	C	G	rs77628469	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:102300677C>G	ENST00000561463.1	+	0	8723									DNM1 pseudogene 47																		AACCTGCAGACACTTGTGGAG	0.582																																						ENST00000561463.1																			0																																																			0							g.chr15:102300677C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102300677C>G														0	8723	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.582	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		14	103	0	0	0	1	0	14	103				
ARID1B	57492	broad.mit.edu	37	6	157528080	157528080	+	Silent	SNP	G	G	A	rs372334858		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:157528080G>A	ENST00000350026.5	+	19	5767	c.5766G>A	c.(5764-5766)gcG>gcA	p.A1922A	ARID1B_ENST00000346085.5_Silent_p.A1935A|ARID1B_ENST00000275248.4_Silent_p.A1917A|ARID1B_ENST00000367148.1_Silent_p.A1975A	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1922					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCATCGCGCACTGGCAGG	0.537																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5803-5805)gcG>gcA		AT rich interactive domain 1B (SWI1-like)							110.0	110.0	110.0					6																	157528080		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528080G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5766G>A	6.37:g.157528080G>A						ARID1B_ENST00000275248.4_Silent_p.A1917A|ARID1B_ENST00000367148.1_Silent_p.A1975A|ARID1B_ENST00000350026.5_Silent_p.A1922A	p.A1935A	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5806	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1922					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.5805G>A	CCDS5251.2																																																																																				0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	508	0	0	0	1	0	6	508				
PRAMEF11	440560	broad.mit.edu	37	1	12887579	12887579	+	Missense_Mutation	SNP	G	G	T	rs2486717	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:12887579G>T	ENST00000535591.1	-	3	473	c.278C>A	c.(277-279)aCa>aAa	p.T93K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	93					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T93K(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGCACTGGTGTTTTGTTCCT	0.493													.|||	12	0.00239617	0.0	0.0	5008	,	,		19361	0.0079		0.0	False		,,,				2504	0.0041					ENST00000535591.1																			1	Substitution - Missense(1)	p.T93K(1)	kidney(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(277-279)aCa>aAa		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887579G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.278C>A	1.37:g.12887579G>T	ENSP00000439551:p.Thr93Lys						p.T93K	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	473	-			93						Missense_Mutation	SNP	ENST00000535591.1	37	c.278C>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.103	-1.150051	0.01700	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.04603	3.59;3.59	1.48	-2.96	0.05547	.	3.413660	0.01687	N	0.026476	T	0.01156	0.0038	N	0.00268	-1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38672	-0.9650	10	0.12103	T	0.63	.	1.0378	0.01552	0.1543:0.2951:0.3093:0.2413	rs2486717	93	O60813	PRA11_HUMAN	K	93;134;93	ENSP00000439551:T93K;ENSP00000391839:T93K	ENSP00000328783:T134K	T	-	2	0	PRAMEF11	12810166	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.627000	0.02033	-3.350000	0.00181	-0.731000	0.03576	ACA		0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		8	1188	1	0	2.17888e-05	1	2.29665e-05	8	1188				
WASF2	10163	broad.mit.edu	37	1	27736340	27736340	+	Silent	SNP	A	A	G	rs71584884		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:27736340A>G	ENST00000430629.2	-	8	1400	c.1185T>C	c.(1183-1185)ccT>ccC	p.P395P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	395	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggaggagggggaggag	0.642																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(1183-1185)ccT>ccC		WAS protein family, member 2							51.0	53.0	52.0					1																	27736340		2203	4300	6503	SO:0001819	synonymous_variant	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27736340A>G	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1185T>C	1.37:g.27736340A>G						WASF2_ENST00000536657.1_Intron	p.P395P	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	8	1400	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	395			Poly-Pro.		B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	c.1185T>C	CCDS304.1																																																																																				0.642	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		5	255	0	0	0	1	0	5	255				
FAM155A	728215	broad.mit.edu	37	13	108518712	108518712	+	Missense_Mutation	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:108518712T>C	ENST00000375915.2	-	1	371	c.233A>G	c.(232-234)cAg>cGg	p.Q78R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	78	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgccgctgctg	0.677																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(232-234)cAg>cGg		family with sequence similarity 155, member A							21.0	27.0	25.0					13																	108518712		2172	4247	6419	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518712T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.233A>G	13.37:g.108518712T>C	ENSP00000365080:p.Gln78Arg						p.Q78R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	371	-			78			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.233A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	7.683	0.689395	0.14973	.	.	ENSG00000204442	ENST00000375915	T	0.52983	0.64	4.65	4.65	0.58169	Armadillo-like helical (1);	0.000000	0.36519	N	0.002547	T	0.52996	0.1769	L	0.42245	1.32	0.27179	N	0.960711	D	0.57899	0.981	D	0.67900	0.954	T	0.44065	-0.9352	10	0.07030	T	0.85	.	12.0726	0.53626	0.0:0.0:0.0:1.0	.	78	B1AL88	F155A_HUMAN	R	78	ENSP00000365080:Q78R	ENSP00000365080:Q78R	Q	-	2	0	FAM155A	107316713	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	1.463000	0.35277	1.745000	0.51790	0.254000	0.18369	CAG		0.677	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	294	0	0	0	1	0	7	294				
HIST1H2BK	85236	broad.mit.edu	37	6	27114296	27114296	+	Missense_Mutation	SNP	C	C	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:27114296C>G	ENST00000356950.1	-	1	281	c.282G>C	c.(280-282)gaG>gaC	p.E94D	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.E94D|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	94					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCGTCTGGATCTCCCTGGAGG	0.612																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(280-282)gaG>gaC		histone cluster 1, H2bk							60.0	66.0	64.0					6																	27114296		2203	4294	6497	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114296C>G	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.282G>C	6.37:g.27114296C>G	ENSP00000349430:p.Glu94Asp					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.E94D	p.E94D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	323	-			94					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.282G>C	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	19.09	3.760332	0.69763	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.44881	0.91;0.91	4.05	3.18	0.36537	Histone-fold (2);Histone core (1);	0.000000	0.38605	U	0.001623	T	0.39091	0.1065	M	0.75884	2.315	0.39826	D	0.972905	P	0.41313	0.745	P	0.48524	0.58	T	0.42327	-0.9458	10	0.66056	D	0.02	.	10.2352	0.43280	0.0:0.8974:0.0:0.1026	.	94	O60814	H2B1K_HUMAN	D	94	ENSP00000380100:E94D;ENSP00000349430:E94D	ENSP00000349430:E94D	E	-	3	2	HIST1H2BK	27222275	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.351000	0.66022	1.009000	0.39289	0.650000	0.86243	GAG		0.612	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		5	603	0	0	0	1	0	5	603				
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs527373580		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1474-1476)cGt>cAt		zinc finger protein 860							85.0	50.0	61.0					3																	32032046		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32032046G>A	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1475G>A	3.37:g.32032046G>A	ENSP00000373274:p.Arg492His						p.R492H	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	2024	+			492					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1475G>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	2.782	-0.253325	0.05829	.	.	ENSG00000197385	ENST00000360311	T	0.18016	2.24	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	L	0.46885	1.475	0.09310	N	1	B	0.24576	0.106	B	0.08055	0.003	T	0.33033	-0.9884	8	.	.	.	.	2.1736	0.03856	0.3193:0.3402:0.3405:0.0	.	492	A6NHJ4	ZN860_HUMAN	H	492	ENSP00000373274:R492H	.	R	+	2	0	ZNF860	32007050	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-5.872000	0.00093	-0.556000	0.06134	-0.552000	0.04208	CGT		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			6	378	0	0	0	1	0	6	378				
CPSF3L	54973	broad.mit.edu	37	1	1256428	1256428	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:1256428G>A	ENST00000435064.1	-	2	156	c.74C>T	c.(73-75)gCg>gTg	p.A25V	CPSF3L_ENST00000419704.1_Missense_Mutation_p.A25V|CPSF3L_ENST00000540437.1_Missense_Mutation_p.A31V|CPSF3L_ENST00000545578.1_5'UTR|CPSF3L_ENST00000411962.1_Intron|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A25V	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	25					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATTCTTGCCCGCAATGGAGAC	0.657																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(91-93)gCg>gTg		cleavage and polyadenylation specific factor 3-like							124.0	110.0	115.0					1																	1256428		2203	4299	6502	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1256428G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.74C>T	1.37:g.1256428G>A	ENSP00000413493:p.Ala25Val					CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A25V|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A25V|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A25V|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000545578.1_5'UTR	p.A31V	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	4	547	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	25					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.92C>T	CCDS21.1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.282907	0.59867	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	T;T;T;T;T;T;T;T;T	0.79845	-1.31;0.92;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.8	1.7	0.24286	Beta-lactamase-like (2);	0.259540	0.38492	N	0.001676	D	0.82481	0.5046	L	0.58510	1.815	0.80722	D	1	P;P;D;P;P;B	0.67145	0.756;0.74;0.996;0.812;0.605;0.346	B;B;P;B;B;B	0.51487	0.222;0.22;0.671;0.217;0.131;0.099	D	0.83477	0.0062	10	0.72032	D	0.01	-18.2883	15.9488	0.79817	0.0:0.5284:0.4716:0.0	.	25;25;44;25;31;25	Q5TA45-3;C9J979;Q5TA51;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	V	25;37;25;31;25;25;31;72;26;85	ENSP00000413493:A25V;ENSP00000404886:A25V;ENSP00000445001:A31V;ENSP00000392848:A25V;ENSP00000411233:A25V;ENSP00000436743:A31V;ENSP00000432009:A72V;ENSP00000435772:A26V;ENSP00000436824:A85V	ENSP00000294579:A37V	A	-	2	0	CPSF3L	1246291	0.823000	0.29233	0.865000	0.33974	0.979000	0.70002	1.705000	0.37867	0.056000	0.16144	0.645000	0.84053	GCG		0.657	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		6	580	0	0	0	1	0	6	580				
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	A	G	rs551614044	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:39296152A>G	ENST00000345847.4	-	1	587	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	196						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597													a|||	234	0.0467252	0.0726	0.0504	5008	,	,		18042	0.0179		0.0298	False		,,,				2504	0.0562					ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(586-588)cgT>cgC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296152A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.588T>C	17.37:g.39296152A>G							p.R196R	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	587	-			192					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.588T>C	CCDS54125.1																																																																																				0.597	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			6	53	0	0	0	1	0	6	53				
MSC	9242	broad.mit.edu	37	8	72754901	72754901	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:72754901C>T	ENST00000325509.4	-	2	905	c.616G>A	c.(616-618)Gct>Act	p.A206T	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000524152.1_5'Flank|RP11-383H13.1_ENST00000537896.1_5'Flank	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	206					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A206T(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCGATTTAAGCGGTGGTTCCA	0.493																																						ENST00000325509.4																			2	Substitution - Missense(2)	p.A206T(2)	lung(2)	endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(616-618)Gct>Act		musculin							380.0	380.0	380.0					8																	72754901		1955	4138	6093	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72754901C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.616G>A	8.37:g.72754901C>T	ENSP00000321445:p.Ala206Thr					MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	p.A206T	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		2	905	-	Breast(64;0.176)		206					O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.616G>A	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491239	0.96339	.	.	ENSG00000178860	ENST00000325509	D	0.98400	-4.91	4.88	4.88	0.63580	.	0.695786	0.13008	N	0.421069	D	0.98245	0.9419	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98863	1.0763	10	0.87932	D	0	.	18.2206	0.89901	0.0:1.0:0.0:0.0	.	206	O60682	MUSC_HUMAN	T	206	ENSP00000321445:A206T	ENSP00000321445:A206T	A	-	1	0	MSC	72917455	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	6.805000	0.75191	2.559000	0.86315	0.462000	0.41574	GCT		0.493	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		315	1295	0	0	0	1	0	315	1295				
TRAPPC9	83696	broad.mit.edu	37	8	141297778	141297778	+	Missense_Mutation	SNP	G	G	A	rs200583642		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:141297778G>A	ENST00000438773.2	-	13	2043	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.P735L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P628L	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	637					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGATTCAGCCGGAAGAGAAAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		17073	0.0		0.001	False		,,,				2504	0.0					ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(2203-2205)cCg>cTg		trafficking protein particle complex 9							79.0	81.0	81.0					8																	141297778		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141297778G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1910C>T	8.37:g.141297778G>A	ENSP00000405060:p.Pro637Leu					TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P637L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P628L	p.P735L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			13	2218	-			637					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.2204C>T	CCDS55278.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.1	4.599316	0.87055	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.72748	0.3499	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;P;D	0.85130	0.997;0.996;0.706;0.985	T	0.68074	-0.5505	9	0.26408	T	0.33	.	17.9069	0.88921	0.0:0.0:1.0:0.0	.	735;637;628;735	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	L	735;628;637	.	ENSP00000373978:P628L	P	-	2	0	TRAPPC9	141366960	1.000000	0.71417	0.283000	0.24790	0.890000	0.51754	8.748000	0.91615	2.518000	0.84900	0.655000	0.94253	CCG		0.587	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		5	361	0	0	0	1	0	5	361				
GNA11	2767	broad.mit.edu	37	19	3114962	3114962	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:3114962G>A	ENST00000078429.4	+	4	739	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	166					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GACGTTGACCGCATCGCCACC	0.677			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(496-498)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							92.0	78.0	82.0					19																	3114962		2203	4299	6502	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3114962G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.497G>A	19.37:g.3114962G>A	ENSP00000078429:p.Arg166His						p.R166H	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	4	739	+		Hepatocellular(1079;0.137)	166					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.497G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757625	0.69648	.	.	ENSG00000088256	ENST00000078429	D	0.91996	-2.95	3.62	3.62	0.41486	G protein alpha subunit, helical insertion (2);	0.000000	0.64402	U	0.000002	D	0.97201	0.9085	H	0.96662	3.86	0.54753	D	0.999989	D	0.89917	1.0	D	0.73708	0.981	D	0.98413	1.0573	10	0.87932	D	0	.	14.2446	0.65981	0.0:0.0:1.0:0.0	.	166	P29992	GNA11_HUMAN	H	166	ENSP00000078429:R166H	ENSP00000078429:R166H	R	+	2	0	GNA11	3065962	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	9.626000	0.98410	1.752000	0.51891	0.556000	0.70494	CGC		0.677	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		6	557	0	0	0	1	0	6	557				
UBBP4	23666	broad.mit.edu	37	17	21731075	21731075	+	Missense_Mutation	SNP	T	T	G	rs111568648		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:21731075T>G	ENST00000578713.1	+	1	381	c.377T>G	c.(376-378)cTg>cGg	p.L126R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L126R|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCTGGAAGATGGC	0.537																																						ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(376-378)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731075T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.377T>G	17.37:g.21731075T>G	ENSP00000464265:p.Leu126Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L126R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR	p.L126R							2	774	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.377T>G																																																																																					0.537	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	243	0	0	0	1	0	6	243				
SULT1A2	6799	broad.mit.edu	37	16	28603714	28603714	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:28603714C>T	ENST00000395630.1	-	7	995	c.645G>A	c.(643-645)ctG>ctA	p.L215L	SULT1A2_ENST00000335715.4_Silent_p.L215L|SULT1A2_ENST00000533150.1_Silent_p.L182L	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	215					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TCTCCTCTGGCAGGGAGCGCC	0.547																																						ENST00000533150.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(544-546)ctG>ctA		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							141.0	126.0	131.0					16																	28603714		2197	4300	6497	SO:0001819	synonymous_variant	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28603714C>T	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.645G>A	16.37:g.28603714C>T						SULT1A2_ENST00000395630.1_Silent_p.L215L|SULT1A2_ENST00000335715.4_Silent_p.L215L	p.L182L			P50226	ST1A2_HUMAN			3	1662	-			215					A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	c.546G>A	CCDS10636.1																																																																																				0.547	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		7	483	0	0	0	1	0	7	483				
C1orf168	199920	broad.mit.edu	37	1	57224419	57224419	+	Silent	SNP	A	A	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:57224419A>C	ENST00000343433.6	-	6	1148	c.1068T>G	c.(1066-1068)acT>acG	p.T356T	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	356										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CAACTTCATAAGTTGCTAAAG	0.318																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(1066-1068)acT>acG		chromosome 1 open reading frame 168							50.0	49.0	49.0					1																	57224419		2202	4295	6497	SO:0001819	synonymous_variant	199920							g.chr1:57224419A>C	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1068T>G	1.37:g.57224419A>C						C1orf168_ENST00000484327.1_Intron	p.T356T	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			6	1148	-			356					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.1068T>G	CCDS30729.1																																																																																				0.318	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		26	95	0	0	0	1	0	26	95				
TCHH	7062	broad.mit.edu	37	1	152082565	152082565	+	Missense_Mutation	SNP	A	A	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:152082565A>C	ENST00000368804.1	-	2	3127	c.3128T>G	c.(3127-3129)cTc>cGc	p.L1043R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1043	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.L1043R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGAGTCTTCTTTT	0.592																																						ENST00000368804.1																			1	Substitution - Missense(1)	p.L1043R(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3127-3129)cTc>cGc		trichohyalin							121.0	124.0	123.0					1																	152082565		1956	4131	6087	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082565A>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3128T>G	1.37:g.152082565A>C	ENSP00000357794:p.Leu1043Arg						p.L1043R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3127	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1043			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3128T>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	5.617	0.298639	0.10622	.	.	ENSG00000159450	ENST00000368804	T	0.05025	3.51	3.32	2.39	0.29439	.	.	.	.	.	T	0.00608	0.0020	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45556	-0.9253	9	0.14252	T	0.57	.	9.3484	0.38122	0.5564:0.4436:0.0:0.0	.	1043	Q07283	TRHY_HUMAN	R	1043	ENSP00000357794:L1043R	ENSP00000357794:L1043R	L	-	2	0	TCHH	150349189	0.000000	0.05858	0.007000	0.13788	0.087000	0.18053	-5.896000	0.00092	-0.005000	0.14395	-2.437000	0.00212	CTC		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	929	0	0	0	1	0	8	929				
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14.0	19.0	17.0					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	141	0	0	0	1	0	7	141				
HAS3	3038	broad.mit.edu	37	16	69148379	69148379	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:69148379G>A	ENST00000306560.1	+	4	1028	c.872G>A	c.(871-873)cGc>cAc	p.R291H	HAS3_ENST00000569188.1_Missense_Mutation_p.R291H|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	291					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGCATGTACCGCAACAGCCTC	0.597																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(871-873)cGc>cAc		hyaluronan synthase 3							106.0	94.0	98.0					16																	69148379		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148379G>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.872G>A	16.37:g.69148379G>A	ENSP00000304440:p.Arg291His					HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R291H	p.R291H	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1028	+		Ovarian(137;0.101)	291					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.872G>A	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780423	0.90195	.	.	ENSG00000103044	ENST00000306560	T	0.68765	-0.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	H	0.95402	3.665	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.90677	0.4602	10	0.87932	D	0	-7.9931	19.1646	0.93551	0.0:0.0:1.0:0.0	.	291	O00219	HAS3_HUMAN	H	291	ENSP00000304440:R291H	ENSP00000304440:R291H	R	+	2	0	HAS3	67705880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.824000	0.97209	0.655000	0.94253	CGC		0.597	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		5	406	0	0	0	1	0	5	406				
NRP2	8828	broad.mit.edu	37	2	206610562	206610562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:206610562G>A	ENST00000357785.5	+	10	1765	c.1734G>A	c.(1732-1734)tgG>tgA	p.W578*	NRP2_ENST00000357118.4_Nonsense_Mutation_p.W578*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W578*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W578*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W578*|NRP2_ENST00000360409.3_Nonsense_Mutation_p.W578*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W578*			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CGGAGAGGTGGTCGCCGGCGG	0.582																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1732-1734)tgG>tgA		neuropilin 2							80.0	75.0	77.0					2																	206610562		2203	4300	6503	SO:0001587	stop_gained	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206610562G>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1734G>A	2.37:g.206610562G>A	ENSP00000350432:p.Trp578*					NRP2_ENST00000357785.5_Nonsense_Mutation_p.W578*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W578*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W578*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W578*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W578*|NRP2_ENST00000540841.1_Nonsense_Mutation_p.W578*	p.W578*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			10	2525	+			578			F5/8 type C 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000357785.5	37	c.1734G>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	45	11.386633	0.99554	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0155	19.648	0.95790	0.0:0.0:1.0:0.0	.	.	.	.	X	578	.	ENSP00000272849:W578X	W	+	3	0	NRP2	206318807	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.886000	0.87288	2.637000	0.89404	0.655000	0.94253	TGG		0.582	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			57	184	0	0	0	1	0	57	184				
NARS2	79731	broad.mit.edu	37	11	78180334	78180334	+	Missense_Mutation	SNP	T	T	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:78180334T>G	ENST00000281038.5	-	10	1360	c.985A>C	c.(985-987)Atc>Ctc	p.I329L	NARS2_ENST00000528850.1_Missense_Mutation_p.I102L	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	329					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGCTTTAAGATCTCCACTGCT	0.378																																						ENST00000281038.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27						c.(985-987)Atc>Ctc		asparaginyl-tRNA synthetase 2, mitochondrial (putative)	L-Asparagine(DB00174)						120.0	112.0	115.0					11																	78180334		2200	4292	6492	SO:0001583	missense	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78180334T>G	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.985A>C	11.37:g.78180334T>G	ENSP00000281038:p.Ile329Leu					NARS2_ENST00000528850.1_Missense_Mutation_p.I102L	p.I329L	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN			10	1360	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		329					G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	c.985A>C	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.747435	0.49257	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	T;T	0.79033	-1.23;-1.23	5.49	5.49	0.81192	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.094278	0.64402	D	0.000001	T	0.64864	0.2637	N	0.21373	0.66	0.58432	D	0.999997	B	0.29378	0.243	B	0.32724	0.151	T	0.62562	-0.6828	10	0.32370	T	0.25	-16.1391	9.6183	0.39706	0.0:0.0804:0.0:0.9196	.	329	Q96I59	SYNM_HUMAN	L	329;102	ENSP00000281038:I329L;ENSP00000432635:I102L	ENSP00000281038:I329L	I	-	1	0	NARS2	77857982	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.419000	0.52728	2.304000	0.77564	0.528000	0.53228	ATC		0.378	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		41	207	0	0	0	1	0	41	207				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	231	1	0	0.0215528	1	0.0218895	6	231				
WDR70	55100	broad.mit.edu	37	5	37703125	37703125	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:37703125G>A	ENST00000265107.4	+	13	1508	c.1352G>A	c.(1351-1353)gGc>gAc	p.G451D	RNU6-484P_ENST00000384016.1_RNA	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	451							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGGCAGCGGCAAACTTGTT	0.413																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1351-1353)gGc>gAc		WD repeat domain 70							119.0	109.0	112.0					5																	37703125		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37703125G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1352G>A	5.37:g.37703125G>A	ENSP00000265107:p.Gly451Asp						p.G451D	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		13	1508	+	all_lung(31;0.000285)		451					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1352G>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254750	0.95336	.	.	ENSG00000082068	ENST00000265107	T	0.02369	4.32	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.00351	-1.1796	10	0.59425	D	0.04	-20.8732	19.6155	0.95632	0.0:0.0:1.0:0.0	.	451	Q9NW82	WDR70_HUMAN	D	451	ENSP00000265107:G451D	ENSP00000265107:G451D	G	+	2	0	WDR70	37738882	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.891000	0.92485	2.801000	0.96364	0.650000	0.86243	GGC		0.413	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		6	402	0	0	0	1	0	6	402				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	251	0	0	0	1	0	6	251				
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	50								p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L50P(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(148-150)cTt>cCt																																						SO:0001583	missense	0							g.chr20:29625905T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.149T>C	20.37:g.29625905T>C	ENSP00000278882:p.Leu50Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P	p.L50P							5	529	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.149T>C		.	.	.	.	.	.	.	.	.	.	t	10.74	1.434729	0.25813	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56611	0.45	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	55	F5H5R5	.	P	50;55;50	ENSP00000408863:L55P	ENSP00000278882:L50P	L	+	2	0	FRG1B	28239566	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	CTT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	523	0	0	0	1	0	6	523				
ADAMTSL3	57188	broad.mit.edu	37	15	84694186	84694186	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:84694186C>T	ENST00000286744.5	+	27	4878	c.4654C>T	c.(4654-4656)Cgg>Tgg	p.R1552W	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1552W	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1552						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCAGGGAACCGGGTAAAGCT	0.478																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4654-4656)Cgg>Tgg		ADAMTS-like 3							69.0	68.0	68.0					15																	84694186		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84694186C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4654C>T	15.37:g.84694186C>T	ENSP00000286744:p.Arg1552Trp					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1552W	p.R1552W	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		27	4878	+			1552					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4654C>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055902	0.36277	.	.	ENSG00000156218	ENST00000286744	T	0.64085	-0.08	5.0	5.0	0.66597	.	0.922843	0.08979	N	0.866129	T	0.62804	0.2458	L	0.46819	1.47	0.80722	D	1	P;B	0.48764	0.915;0.206	P;B	0.45138	0.471;0.006	T	0.62431	-0.6856	10	0.66056	D	0.02	.	13.6677	0.62405	0.0:1.0:0.0:0.0	.	1552;1552	P82987-2;P82987	.;ATL3_HUMAN	W	1552	ENSP00000286744:R1552W	ENSP00000286744:R1552W	R	+	1	2	ADAMTSL3	82485190	1.000000	0.71417	0.998000	0.56505	0.246000	0.25737	4.108000	0.57817	2.580000	0.87095	0.655000	0.94253	CGG		0.478	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		26	75	0	0	0	1	0	26	75				
BCKDHB	594	broad.mit.edu	37	6	80878728	80878728	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:80878728C>T	ENST00000320393.6	+	5	661	c.614C>T	c.(613-615)gCc>gTc	p.A205V	BCKDHB_ENST00000545529.1_Missense_Mutation_p.A205V|BCKDHB_ENST00000369760.4_Missense_Mutation_p.A205V|BCKDHB_ENST00000356489.5_Missense_Mutation_p.A205V	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	205					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GCATTTTTTGCCCATTGCCCA	0.393																																						ENST00000545529.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(613-615)gCc>gTc		branched chain keto acid dehydrogenase E1, beta polypeptide							141.0	140.0	140.0					6																	80878728		2203	4300	6503	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80878728C>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.614C>T	6.37:g.80878728C>T	ENSP00000318351:p.Ala205Val					BCKDHB_ENST00000356489.5_Missense_Mutation_p.A205V|BCKDHB_ENST00000320393.6_Missense_Mutation_p.A205V|BCKDHB_ENST00000369760.4_Missense_Mutation_p.A205V	p.A205V			P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	5	642	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	205					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.614C>T	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654329	0.88056	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529;ENST00000541767	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.21	5.21	0.72293	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	M	0.82132	2.575	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	D	0.95098	0.8228	10	0.54805	T	0.06	-12.0783	17.8034	0.88595	0.0:1.0:0.0:0.0	.	205	P21953	ODBB_HUMAN	V	205;205;205;205;135	ENSP00000358775:A205V;ENSP00000318351:A205V;ENSP00000348880:A205V;ENSP00000443564:A205V	ENSP00000318351:A205V	A	+	2	0	BCKDHB	80935447	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.677000	0.68142	2.444000	0.82710	0.579000	0.79373	GCC		0.393	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		5	413	0	0	0	1	0	5	413				
BMP2	650	broad.mit.edu	37	20	6758933	6758933	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:6758933C>T	ENST00000378827.4	+	3	1607	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	130					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GAAAACAACCCGGAGATTCTT	0.388																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(388-390)Cgg>Tgg		bone morphogenetic protein 2	Simvastatin(DB00641)						44.0	49.0	47.0					20																	6758933		2203	4300	6503	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6758933C>T		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.388C>T	20.37:g.6758933C>T	ENSP00000368104:p.Arg130Trp						p.R130W	NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN			3	1607	+			130						Missense_Mutation	SNP	ENST00000378827.4	37	c.388C>T	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635820	0.47049	.	.	ENSG00000125845	ENST00000378827	T	0.65178	-0.14	5.86	5.86	0.93980	Transforming growth factor-beta, N-terminal (1);	0.053759	0.85682	D	0.000000	T	0.74928	0.3781	L	0.49126	1.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.65773	0.938	T	0.70040	-0.4981	10	0.37606	T	0.19	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	130	P12643	BMP2_HUMAN	W	130	ENSP00000368104:R130W	ENSP00000368104:R130W	R	+	1	2	BMP2	6706933	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.907000	0.63300	2.937000	0.99478	0.650000	0.86243	CGG		0.388	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			17	270	0	0	0	1	0	17	270				
PCDH15	65217	broad.mit.edu	37	10	55944926	55944926	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:55944926C>T	ENST00000320301.6	-	12	1802	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	PCDH15_ENST00000395433.1_Missense_Mutation_p.D448N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D475N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D470N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D433N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D477N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D470N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D448N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D470N|PCDH15_ENST00000373965.2_Missense_Mutation_p.D477N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D470N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D470N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D81N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	470	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTCCCTGTCCACTGGTTGA	0.398										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1429-1431)Gac>Aac		protocadherin-related 15							182.0	153.0	163.0					10																	55944926		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55944926C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1408G>A	10.37:g.55944926C>T	ENSP00000322604:p.Asp470Asn	HNSCC(58;0.16)				PCDH15_ENST00000395430.1_Missense_Mutation_p.D470N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D470N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D448N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D477N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D81N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D433N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D470N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D470N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D475N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D448N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D470N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D470N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron	p.D477N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			13	1823	-		Melanoma(3;0.117)|Lung SC(717;0.238)	470			Cadherin 4.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1429G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869901	0.91587	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76578	-0.42;-0.04;-0.04;-1.03;-0.42;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	4.96	4.96	0.65561	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85150	0.5631	L	0.51422	1.61	0.58432	D	0.999994	D;D;D;D;D;D;D;D;D;D;D;D;P;P;D	0.89917	0.999;1.0;1.0;0.988;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.907;0.924;0.999	D;D;D;D;D;D;D;D;D;D;D;D;P;P;D	0.97110	0.999;1.0;1.0;0.983;1.0;1.0;0.999;1.0;0.999;1.0;1.0;0.997;0.801;0.649;0.99	D	0.85509	0.1196	9	0.51188	T	0.08	.	17.3285	0.87256	0.0:1.0:0.0:0.0	.	448;470;470;475;470;433;470;470;477;477;470;475;470;448;470	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	477;475;470;470;81;477;470;433;470;448;448;470;470;475;470;470	ENSP00000363076:D477N;ENSP00000410304:D475N;ENSP00000378826:D470N;ENSP00000386693:D81N;ENSP00000378832:D477N;ENSP00000378833:D470N;ENSP00000378820:D433N;ENSP00000354950:D470N;ENSP00000378821:D448N;ENSP00000363068:D448N;ENSP00000322604:D470N;ENSP00000378818:D470N;ENSP00000412628:D470N;ENSP00000363066:D470N	ENSP00000322604:D470N	D	-	1	0	PCDH15	55614932	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.273000	0.78527	2.465000	0.83290	0.591000	0.81541	GAC		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		52	238	0	0	0	1	0	52	238				
GZF1	64412	broad.mit.edu	37	20	23345148	23345148	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:23345148G>A	ENST00000338121.5	+	2	205	c.128G>A	c.(127-129)cGc>cAc	p.R43H	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.R43H|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	43	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAGGGTGTCCGCAAAGACTTC	0.502																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(127-129)cGc>cAc		GDNF-inducible zinc finger protein 1							87.0	81.0	83.0					20																	23345148		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345148G>A	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.128G>A	20.37:g.23345148G>A	ENSP00000338290:p.Arg43His					GZF1_ENST00000377051.2_Missense_Mutation_p.R43H|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron	p.R43H			Q9H116	GZF1_HUMAN			2	205	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		43			BTB.		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.128G>A	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	4.178	0.031588	0.08101	.	.	ENSG00000125812	ENST00000338121;ENST00000424216;ENST00000377051	T;T	0.67698	-0.28;-0.28	5.33	4.37	0.52481	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.252304	0.27686	N	0.018276	T	0.38054	0.1026	N	0.01874	-0.695	0.80722	D	1	B	0.27140	0.169	B	0.23419	0.046	T	0.32052	-0.9921	10	0.45353	T	0.12	.	9.8399	0.40993	0.1587:0.0:0.8413:0.0	.	43	Q9H116	GZF1_HUMAN	H	43	ENSP00000338290:R43H;ENSP00000366250:R43H	ENSP00000338290:R43H	R	+	2	0	GZF1	23293148	0.744000	0.28250	0.759000	0.31340	0.105000	0.19272	3.658000	0.54482	1.235000	0.43724	0.650000	0.86243	CGC		0.502	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		5	265	0	0	0	1	0	5	265				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	170	1	0	0.000602214	1	0.000631354	5	170				
KRTAP4-6	81871	broad.mit.edu	37	17	39296158	39296158	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:39296158G>A	ENST00000345847.4	-	1	581	c.582C>T	c.(580-582)tgC>tgT	p.C194C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	194						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGGACGGGGGCAGGTGGAAA	0.612																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(580-582)tgC>tgT		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296158G>A	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.582C>T	17.37:g.39296158G>A							p.C194C	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	581	-			190					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.582C>T	CCDS54125.1																																																																																				0.612	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			7	55	0	0	0	1	0	7	55				
FANK1	92565	broad.mit.edu	37	10	127693473	127693473	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:127693473C>T	ENST00000368693.1	+	7	664	c.560C>T	c.(559-561)gCg>gTg	p.A187V	FANK1_ENST00000368695.1_Missense_Mutation_p.A181V|FANK1_ENST00000477963.1_3'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	187						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GCGTGCTATGCGGGACACCTA	0.512																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(541-543)gCg>gTg		fibronectin type III and ankyrin repeat domains 1							153.0	143.0	146.0					10																	127693473		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127693473C>T	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.560C>T	10.37:g.127693473C>T	ENSP00000357682:p.Ala187Val					FANK1_ENST00000368693.1_Missense_Mutation_p.A187V|FANK1_ENST00000477963.1_3'UTR	p.A181V	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			7	664	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	187					Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.542C>T	CCDS31309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.80|15.80	2.941340|2.941340	0.53079|0.53079	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692|ENST00000456942	T;T;T|.	0.66638|.	-0.22;-0.22;0.63|.	5.79|5.79	2.86|2.86	0.33363|0.33363	Ankyrin repeat-containing domain (4);|.	0.159505|.	0.42294|.	D|.	0.000728|.	T|T	0.38719|0.38719	0.1051|0.1051	L|L	0.39147|0.39147	1.195|1.195	0.21184|0.21184	N|N	0.999761|0.999761	D;D;D|.	0.61697|.	0.99;0.977;0.963|.	P;P;P|.	0.49597|.	0.616;0.536;0.548|.	T|T	0.20505|0.20505	-1.0273|-1.0273	10|5	0.12430|.	T|.	0.62|.	-24.42|-24.42	11.0179|11.0179	0.47701|0.47701	0.2611:0.6132:0.1257:0.0|0.2611:0.6132:0.1257:0.0	.|.	213;187;187|.	Q8TC84-3;Q8TC84-2;Q8TC84|.	.;.;FANK1_HUMAN|.	V|W	181;187;165;213|82	ENSP00000357684:A181V;ENSP00000357682:A187V;ENSP00000357680:A165V|.	ENSP00000357680:A165V|.	A|R	+|+	2|1	0|2	FANK1|FANK1	127683463|127683463	0.783000|0.783000	0.28701|0.28701	0.176000|0.176000	0.23000|0.23000	0.753000|0.753000	0.42808|0.42808	1.267000|1.267000	0.33050|0.33050	0.332000|0.332000	0.23536|0.23536	-0.152000|-0.152000	0.13540|0.13540	GCG|CGG		0.512	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		6	539	0	0	0	1	0	6	539				
SPTB	6710	broad.mit.edu	37	14	65233466	65233466	+	Missense_Mutation	SNP	G	G	A	rs369676353		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:65233466G>A	ENST00000389721.5	-	31	6355	c.6323C>T	c.(6322-6324)gCg>gTg	p.A2108V	SPTB_ENST00000542895.1_Missense_Mutation_p.A2108V|SPTB_ENST00000556626.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389722.3_Missense_Mutation_p.A2108V|SPTB_ENST00000342835.4_5'Flank|SPTB_ENST00000389720.3_Silent_p.C2091C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2108					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCGGTGGCCGCATGGTGGGA	0.592																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(6322-6324)gCg>gTg		spectrin, beta, erythrocytic		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	179.0	169.0	172.0		6323,6323	3.9	0.0	14		172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	2108/2138,2108/2329	65233466	1,13005	2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65233466G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.6323C>T	14.37:g.65233466G>A	ENSP00000374371:p.Ala2108Val					SPTB_ENST00000556626.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389721.5_Missense_Mutation_p.A2108V|SPTB_ENST00000542895.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389720.3_Silent_p.C2091C	p.A2108V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	31	6376	-		all_lung(585;4.15e-09)	2108					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.6323C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	5.957	0.360638	0.11296	0.0	1.16E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895	T;T;T;T;T	0.71934	-0.53;0.24;-0.53;-0.61;-0.61	4.78	3.88	0.44766	.	2.046820	0.01913	N	0.039967	T	0.52917	0.1764	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.40572	-0.9556	10	0.23891	T	0.37	.	8.2183	0.31526	0.1055:0.0:0.8945:0.0	.	892;2108;2112	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	V	2112;2108;892;773;2108;2108;2108	ENSP00000374372:A2108V;ENSP00000451324:A773V;ENSP00000451752:A2108V;ENSP00000374371:A2108V;ENSP00000443882:A2108V	ENSP00000334218:A892V	A	-	2	0	SPTB	64303219	0.172000	0.23043	0.019000	0.16419	0.017000	0.09413	3.604000	0.54081	2.648000	0.89879	0.462000	0.41574	GCG		0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			6	892	0	0	0	1	0	6	892				
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	414	1	0	6.31663e-08	1	6.80521e-08	11	414				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							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			7	505	0	0	0	1	0	7	505				
ZNRF4	148066	broad.mit.edu	37	19	5455843	5455843	+	Missense_Mutation	SNP	C	C	T	rs199676664		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:5455843C>T	ENST00000222033.4	+	1	418	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	114						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTGGACTTTGCGGATCTGCCG	0.667																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(340-342)gCg>gTg		zinc and ring finger 4							50.0	59.0	56.0					19																	5455843		2112	4215	6327	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455843C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.341C>T	19.37:g.5455843C>T	ENSP00000222033:p.Ala114Val						p.A114V	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	418	+			114					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.341C>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	5.011	0.187799	0.09547	.	.	ENSG00000105428	ENST00000222033	T	0.04706	3.57	4.34	0.627	0.17675	.	0.646960	0.14779	U	0.298908	T	0.03915	0.0110	L	0.58101	1.795	0.09310	N	1	P	0.35011	0.48	B	0.21360	0.034	T	0.38908	-0.9639	10	0.30854	T	0.27	.	4.0098	0.09618	0.0:0.3583:0.2521:0.3896	.	114	Q8WWF5	ZNRF4_HUMAN	V	114	ENSP00000222033:A114V	ENSP00000222033:A114V	A	+	2	0	ZNRF4	5406843	0.000000	0.05858	0.005000	0.12908	0.035000	0.12851	-0.284000	0.08422	0.267000	0.21916	0.491000	0.48974	GCG		0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		6	618	0	0	0	1	0	6	618				
IFRD2	7866	broad.mit.edu	37	3	50329757	50329757	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:50329757C>T	ENST00000429673.2	-	1	140	c.141G>A	c.(139-141)gaG>gaA	p.E47E	IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Silent_p.E149E|IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	47						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGTGTGGGCTCCAGGCCAA	0.756																																						ENST00000336089.4																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.(445-447)gaG>gaA		interferon-related developmental regulator 2							4.0	9.0	7.0					3																	50329757		876	1926	2802	SO:0001819	synonymous_variant	7866						binding	g.chr3:50329757C>T	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.141G>A	3.37:g.50329757C>T						IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000429673.2_Silent_p.E47E	p.E149E			Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	4	446	-			47					Q9BVB4|Q9UJ88	Silent	SNP	ENST00000429673.2	37	c.447G>A	CCDS46831.1																																																																																				0.756	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		8	29	0	0	0	1	0	8	29				
KIF21A	55605	broad.mit.edu	37	12	39735383	39735383	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																						ENST00000395670.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E602D(1)|p.E602E(1)	lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1843-1845)gaG>gaA		kinesin family member 21A							85.0	82.0	83.0					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735383C>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1845G>A	12.37:g.39735383C>T						KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E|KIF21A_ENST00000544797.2_Silent_p.E602E	p.E615E			Q7Z4S6	KI21A_HUMAN			14	2264	-		Lung NSC(34;0.179)|all_lung(34;0.213)	615					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1845G>A	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		4	131	0	0	0	1	0	4	131				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	150	0	0	0	1	0	5	150				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.C595Y(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		nuclear factor, erythroid 2-like 3							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225102G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2043	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			5	237	0	0	0	1	0	5	237				
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000545652.1_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697																																						ENST00000373818.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e1+2		gelsolin							22.0	24.0	23.0					9																	124062285		1599	3598	5197	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124062285T>G	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.144+2T>G	9.37:g.124062285T>G						GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron		NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN			1	213	+								A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37		CCDS6828.1																																																																																				0.697	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Intron	32	64	0	0	0	1	0	32	64				
CARD11	84433	broad.mit.edu	37	7	2968267	2968267	+	Silent	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:2968267G>T	ENST00000396946.4	-	13	2122	c.1719C>A	c.(1717-1719)atC>atA	p.I573I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	573					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.I566I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCGTCTGACGATGGAGTCGT	0.642			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - coding silent(1)	p.I566I(1)	ovary(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1717-1719)atC>atA		caspase recruitment domain family, member 11							88.0	77.0	81.0					7																	2968267		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2968267G>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1719C>A	7.37:g.2968267G>T							p.I573I	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	13	2122	-		Ovarian(82;0.0115)	573					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.1719C>A	CCDS5336.2																																																																																				0.642	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		5	627	1	0	1	1	1	5	627				
DRD5	1816	broad.mit.edu	37	4	9783938	9783938	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:9783938G>A	ENST00000304374.2	+	1	681	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	95					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGCTGGTCATGCCCTGGAAGG	0.637																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(283-285)atG>atA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)																																			SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783938G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.285G>A	4.37:g.9783938G>A	ENSP00000306129:p.Met95Ile						p.M95I	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	681	+			95					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.285G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.389198	0.82902	.	.	ENSG00000169676	ENST00000304374	T	0.73363	-0.74	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	M	0.72118	2.19	0.80722	D	1	B	0.27068	0.167	B	0.29942	0.109	T	0.76929	-0.2777	10	0.59425	D	0.04	.	15.5246	0.75894	0.0:0.0:1.0:0.0	.	95	P21918	DRD5_HUMAN	I	95	ENSP00000306129:M95I	ENSP00000306129:M95I	M	+	3	0	DRD5	9393036	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.199000	0.95003	2.130000	0.65690	0.305000	0.20034	ATG		0.637	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			7	295	0	0	0	1	0	7	295				
MYOM3	127294	broad.mit.edu	37	1	24418739	24418739	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:24418739C>T	ENST00000374434.3	-	11	1319	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.R387K|MYOM3_ENST00000329601.7_Missense_Mutation_p.R386K	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	386	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GAGGCAGTCTCTGTTCACATC	0.647																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(1159-1161)aGa>aAa		myomesin 3							52.0	59.0	57.0					1																	24418739		1951	4135	6086	SO:0001583	missense	127294							g.chr1:24418739C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1157G>A	1.37:g.24418739C>T	ENSP00000363557:p.Arg386Lys					MYOM3_ENST00000374434.3_Missense_Mutation_p.R386K|MYOM3_ENST00000329601.7_Missense_Mutation_p.R386K|MYOM3_ENST00000475306.1_5'UTR	p.R387K			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	11	1322	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	386			Fibronectin type-III 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.1160G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404156	0.42613	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.56275	0.47;0.47;0.47	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.186233	0.52532	D	0.000063	T	0.27832	0.0685	N	0.04959	-0.14	0.26320	N	0.977686	B;B;B	0.23854	0.015;0.026;0.092	B;B;B	0.31101	0.124;0.035;0.045	T	0.29336	-1.0015	10	0.06625	T	0.88	.	8.5872	0.33666	0.0:0.8697:0.0:0.1303	.	43;386;386	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	K	386;387;386	ENSP00000363557:R386K;ENSP00000332670:R387K;ENSP00000328415:R386K	ENSP00000328415:R386K	R	-	2	0	MYOM3	24291326	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.132000	0.31418	2.601000	0.87937	0.563000	0.77884	AGA		0.647	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		8	541	0	0	0	1	0	8	541				
LAMA2	3908	broad.mit.edu	37	6	129802516	129802516	+	Missense_Mutation	SNP	G	G	A	rs200341138		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:129802516G>A	ENST00000421865.2	+	55	7730	c.7681G>A	c.(7681-7683)Ggc>Agc	p.G2561S	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2561	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATGAGTCCGGCATCATTCT	0.488																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(7681-7683)Ggc>Agc		laminin, alpha 2							156.0	147.0	150.0					6																	129802516		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129802516G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7681G>A	6.37:g.129802516G>A	ENSP00000400365:p.Gly2561Ser					RP1-69D17.3_ENST00000442449.1_RNA	p.G2561S	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	55	7730	+			2561			Laminin G-like 3.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7681G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383966	0.82792	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	D	0.89875	-2.58	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.94404	0.8200	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93996	0.7271	9	.	.	.	.	19.1509	0.93488	0.0:0.0:1.0:0.0	.	2562;2561	A6NF00;P24043	.;LAMA2_HUMAN	S	2561;2560;2561;579	ENSP00000400365:G2561S	.	G	+	1	0	LAMA2	129844209	1.000000	0.71417	0.982000	0.44146	0.337000	0.28794	9.278000	0.95766	2.599000	0.87857	0.563000	0.77884	GGC		0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			101	402	0	0	0	1	0	101	402				
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T	rs368809647		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	86	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(301-303)ggC>ggT		keratin associated protein 9-9							78.0	83.0	81.0					17																	39411940		2203	4297	6500	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411940C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.303C>T	17.37:g.39411940C>T							p.G101G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	305	+		Breast(137;0.000496)	101					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.303C>T	CCDS54127.1																																																																																				0.617	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		6	536	0	0	0	1	0	6	536				
RIMS2	9699	broad.mit.edu	37	8	105263855	105263855	+	Missense_Mutation	SNP	G	G	A	rs200286153		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:105263855G>A	ENST00000436393.2	+	28	4152	c.3911G>A	c.(3910-3912)cGc>cAc	p.R1304H	RIMS2_ENST00000262231.10_Missense_Mutation_p.R1125H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1286H|RIMS2_ENST00000339750.2_Missense_Mutation_p.R222H|RIMS2_ENST00000507740.1_Missense_Mutation_p.R1100H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1348	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATTATGGCCGCATGGATCAC	0.378										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3298-3300)cGc>cAc		regulating synaptic membrane exocytosis 2							129.0	128.0	128.0					8																	105263855		1895	4148	6043	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263855G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3911G>A	8.37:g.105263855G>A	ENSP00000390665:p.Arg1304His	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.R1125H|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1304H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1286H|RIMS2_ENST00000339750.2_Missense_Mutation_p.R222H	p.R1100H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		22	3535	+			1348					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3299G>A		.	.	.	.	.	.	.	.	.	.	G	21.3	4.134573	0.77662	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.64	5.64	0.86602	.	.	.	.	.	D	0.88020	0.6325	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.997;0.999	D;D;D;D	0.75020	0.984;0.978;0.978;0.985	D	0.90084	0.4172	9	0.87932	D	0	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	1304;1125;1100;1286	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	H	1323;1286;1348;1125;1100;1304;222;222	ENSP00000384892:R1286H;ENSP00000262231:R1125H;ENSP00000423559:R1100H;ENSP00000390665:R1304H;ENSP00000428478:R222H;ENSP00000342051:R222H	ENSP00000262231:R1125H	R	+	2	0	RIMS2	105333031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.857000	0.99534	2.660000	0.90430	0.655000	0.94253	CGC		0.378	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		6	530	0	0	0	1	0	6	530				
FLG2	388698	broad.mit.edu	37	1	152325720	152325720	+	Silent	SNP	C	C	T	rs147635537		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:152325720C>T	ENST00000388718.5	-	3	4614	c.4542G>A	c.(4540-4542)tcG>tcA	p.S1514S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1514					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGTGTGTGCGAGCCCCCTG	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4540-4542)tcG>tcA		filaggrin family member 2		T		0,4406		0,0,2203	321.0	309.0	313.0		4542	-7.6	0.0	1	dbSNP_134	313	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	FLG2	NM_001014342.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1514/2392	152325720	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325720C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4542G>A	1.37:g.152325720C>T						FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S1514S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4614	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1514					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4542G>A	CCDS30861.1																																																																																				0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	1456	0	0	0	1	0	9	1456				
KLHL32	114792	broad.mit.edu	37	6	97414940	97414940	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:97414940C>T	ENST00000369261.4	+	2	367	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	KLHL32_ENST00000539200.1_Missense_Mutation_p.P2S|KLHL32_ENST00000536676.1_Missense_Mutation_p.P2S|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	2								p.P2S(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CTGGAAAATGCCGTCTGAACG	0.478																																						ENST00000369261.4																			1	Substitution - Missense(1)	p.P2S(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(4-6)Ccg>Tcg		kelch-like family member 32							101.0	74.0	83.0					6																	97414940		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97414940C>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.4C>T	6.37:g.97414940C>T	ENSP00000358265:p.Pro2Ser					KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.P2S|KLHL32_ENST00000539200.1_Missense_Mutation_p.P2S	p.P2S	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	2	367	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	2					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.4C>T	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614806	0.46631	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.75938	-0.72;-0.95;-0.98;-0.87	4.96	4.96	0.65561	.	0.558433	0.18223	N	0.147804	T	0.70954	0.3283	N	0.19112	0.55	0.80722	D	1	D;P;P;P	0.58268	0.982;0.759;0.759;0.759	D;B;B;B	0.63033	0.91;0.245;0.328;0.328	T	0.72795	-0.4185	10	0.41790	T	0.15	.	18.3901	0.90479	0.0:1.0:0.0:0.0	.	2;2;2;2	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	S	2	ENSP00000358265:P2S;ENSP00000440382:P2S;ENSP00000441527:P2S;ENSP00000358258:P2S	ENSP00000358258:P2S	P	+	1	0	KLHL32	97521661	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.640000	0.61368	2.583000	0.87209	0.655000	0.94253	CCG		0.478	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		4	142	0	0	0	1	0	4	142				
HIPK4	147746	broad.mit.edu	37	19	40886790	40886790	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:40886790G>A	ENST00000291823.2	-	3	1392	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	370					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGCGAGAGGCGGTAGCTGCGC	0.677																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1108-1110)Cgc>Tgc		homeodomain interacting protein kinase 4							62.0	67.0	65.0					19																	40886790		2202	4297	6499	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886790G>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1108C>T	19.37:g.40886790G>A	ENSP00000291823:p.Arg370Cys						p.R370C	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1392	-			370					A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.1108C>T	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596061	0.66332	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.68903	-0.36	5.55	5.55	0.83447	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000034	T	0.73241	0.3562	L	0.29908	0.895	0.53688	D	0.999979	D	0.89917	1.0	D	0.70016	0.967	T	0.75900	-0.3154	10	0.72032	D	0.01	.	16.4146	0.83729	0.0:0.0:1.0:0.0	.	370	Q8NE63	HIPK4_HUMAN	C	370;335	ENSP00000291823:R370C	ENSP00000291823:R370C	R	-	1	0	HIPK4	45578630	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	5.472000	0.66768	2.608000	0.88229	0.462000	0.41574	CGC		0.677	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		5	684	0	0	0	1	0	5	684				
AQP9	366	broad.mit.edu	37	15	58465314	58465314	+	Missense_Mutation	SNP	C	C	T	rs200266534		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:58465314C>T	ENST00000219919.4	+	3	656	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	AQP9_ENST00000558772.1_Missense_Mutation_p.R31W|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.R96W	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	96					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TCTCTTTGGACGGATGAAATG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20633	0.0		0.0	False		,,,				2504	0.001					ENST00000219919.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(286-288)Cgg>Tgg		aquaporin 9							213.0	205.0	207.0					15																	58465314		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58465314C>T	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.286C>T	15.37:g.58465314C>T	ENSP00000219919:p.Arg96Trp					AQP9_ENST00000558772.1_Missense_Mutation_p.R31W|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.R96W	p.R96W	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	3	656	+			96					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.286C>T	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707646	0.68615	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.86030	-2.06;-2.06	5.46	2.41	0.29592	Aquaporin-like (2);	0.070870	0.56097	D	0.000024	D	0.94712	0.8294	H	0.96996	3.92	0.48901	D	0.99972	D	0.89917	1.0	D	0.91635	0.999	D	0.95693	0.8742	10	0.87932	D	0	.	15.3605	0.74469	0.7595:0.2405:0.0:0.0	.	96	O43315	AQP9_HUMAN	W	96	ENSP00000219919:R96W;ENSP00000441390:R96W	ENSP00000219919:R96W	R	+	1	2	AQP9	56252606	0.997000	0.39634	0.998000	0.56505	0.902000	0.53008	2.277000	0.43417	0.337000	0.23665	-0.182000	0.12963	CGG		0.468	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		14	805	0	0	0	1	0	14	805				
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q|SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418									Familial Paragangliomas																													ENST00000264932.6																			2	Substitution - Missense(2)	p.E240Q(2)	lung(1)|prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(718-720)Gag>Cag		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						100.0	92.0	95.0					5																	228396		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228396G>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.718G>C	5.37:g.228396G>C	ENSP00000264932:p.Glu240Gln					SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q	p.E240Q	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	833	+			240		E -> Q (in dbSNP:rs1041946).			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.718G>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	c	18.02	3.531241	0.64972	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70399	-0.48;-0.48;-0.48	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.063690	0.64402	U	0.000008	T	0.81973	0.4936	M	0.67397	2.05	0.80722	D	1	P;P;D;P;P	0.69078	0.494;0.614;0.997;0.605;0.605	P;P;D;B;B	0.65874	0.457;0.493;0.939;0.2;0.315	D	0.83437	0.0041	10	0.66056	D	0.02	.	16.7213	0.85410	0.0:0.0:1.0:0.0	rs1041946;rs3181411;rs17410941	192;240;240;240;246	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	Q	240;240;192	ENSP00000264932:E240Q;ENSP00000426514:E240Q;ENSP00000427703:E192Q	ENSP00000264932:E240Q	E	+	1	0	SDHA	281396	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.579000	0.82511	2.633000	0.89246	0.644000	0.83932	GAG		0.418	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		4	302	0	0	0	1	0	4	302				
NMRAL1	57407	broad.mit.edu	37	16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAGGGCAGCCGCACACTGGTC	0.572																																						ENST00000574733.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						c.(451-453)Cgg>Tgg		NmrA-like family domain containing 1							95.0	89.0	91.0					16																	4516232		2197	4300	6497	SO:0001583	missense	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4516232G>A	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.451C>T	16.37:g.4516232G>A	ENSP00000458762:p.Arg151Trp					NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR	p.R151W			Q9HBL8	NMRL1_HUMAN			4	1180	-			151						Missense_Mutation	SNP	ENST00000574733.1	37	c.451C>T	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804190	0.70682	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.48836	0.8;0.8	5.84	3.85	0.44370	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.64402	D	0.000005	T	0.64316	0.2587	M	0.68952	2.095	0.47862	D	0.999539	D	0.89917	1.0	D	0.97110	1.0	T	0.62034	-0.6939	10	0.35671	T	0.21	-32.0395	12.9284	0.58272	0.0:0.0:0.7042:0.2958	.	151	Q9HBL8	NMRL1_HUMAN	W	151	ENSP00000283429:R151W;ENSP00000383962:R151W	ENSP00000283429:R151W	R	-	1	2	NMRAL1	4456233	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.199000	0.51043	0.786000	0.33708	-0.309000	0.09137	CGG		0.572	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		5	299	0	0	0	1	0	5	299				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	486	0	0	0	1	0	5	486				
APPL2	55198	broad.mit.edu	37	12	105568136	105568136	+	Missense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:105568136C>A	ENST00000258530.3	-	21	2176	c.1951G>T	c.(1951-1953)Gat>Tat	p.D651Y	APPL2_ENST00000551662.1_Missense_Mutation_p.D657Y|APPL2_ENST00000546731.1_Missense_Mutation_p.D94Y|APPL2_ENST00000539978.2_Missense_Mutation_p.D608Y	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GGATTTCCATCATCGTCATCT	0.463																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1951-1953)Gat>Tat		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							236.0	191.0	207.0					12																	105568136		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105568136C>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1951G>T	12.37:g.105568136C>A	ENSP00000258530:p.Asp651Tyr					APPL2_ENST00000546731.1_Missense_Mutation_p.D94Y|APPL2_ENST00000551662.1_Missense_Mutation_p.D657Y|APPL2_ENST00000539978.2_Missense_Mutation_p.D608Y	p.D651Y	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			21	2176	-			651					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1951G>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165391	0.57476	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000546731;ENST00000551662;ENST00000553109	T;T;T	0.25749	2.59;1.78;2.36	5.93	5.04	0.67666	.	0.285633	0.39687	N	0.001298	T	0.21921	0.0528	N	0.24115	0.695	0.20307	N	0.999918	P;P	0.47253	0.892;0.828	B;B	0.43251	0.413;0.235	T	0.07558	-1.0766	10	0.72032	D	0.01	-12.4508	14.8676	0.70427	0.0:0.9316:0.0:0.0684	.	657;651	F8W1P5;Q8NEU8	.;DP13B_HUMAN	Y	651;608;94;657;182	ENSP00000258530:D651Y;ENSP00000444472:D608Y;ENSP00000446917:D657Y	ENSP00000258530:D651Y	D	-	1	0	APPL2	104092266	0.927000	0.31430	0.210000	0.23637	0.623000	0.37688	2.454000	0.44979	1.521000	0.48983	0.655000	0.94253	GAT		0.463	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		4	206	1	0	0.150653	1	0.15143	4	206				
GPRC5C	55890	broad.mit.edu	37	17	72436919	72436919	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:72436919G>A	ENST00000392627.1	+	2	2265	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	GPRC5C_ENST00000392629.2_Missense_Mutation_p.S347N|GPRC5C_ENST00000342648.5_Missense_Mutation_p.S20N|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	335					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AAGGGTCAGAGCATGTTCGTG	0.577																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(1138-1140)aGc>aAc		G protein-coupled receptor, family C, group 5, member C							95.0	93.0	94.0					17																	72436919		2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436919G>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1139G>A	17.37:g.72436919G>A	ENSP00000376403:p.Ser380Asn					GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Missense_Mutation_p.S20N|GPRC5C_ENST00000392629.2_Missense_Mutation_p.S347N	p.S380N	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			2	2265	+			335					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1139G>A	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552906	0.27739	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.18657	2.2	5.42	5.42	0.78866	.	0.522318	0.24688	N	0.036404	T	0.17704	0.0425	N	0.21373	0.66	0.38149	D	0.938672	B;B;B	0.22800	0.045;0.045;0.075	B;B;B	0.22386	0.017;0.017;0.039	T	0.06826	-1.0805	10	0.33141	T	0.24	-17.489	18.2129	0.89876	0.0:0.0:1.0:0.0	.	335;335;347	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	N	335;380;46;347;335	ENSP00000376405:S347N	ENSP00000262616:S46N	S	+	2	0	GPRC5C	69948514	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.785000	0.68998	2.549000	0.85964	0.561000	0.74099	AGC		0.577	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			7	267	0	0	0	1	0	7	267				
KAT6A	7994	broad.mit.edu	37	8	41794801	41794801	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:41794801C>T	ENST00000396930.3	-	17	3868	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	KAT6A_ENST00000265713.2_Missense_Mutation_p.E1109K|KAT6A_ENST00000406337.1_Missense_Mutation_p.E1109K	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1109					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCTTCATCTTCTTCTTCATCT	0.403																																						ENST00000396930.3																			0											c.(3325-3327)Gaa>Aaa		K(lysine) acetyltransferase 6A							114.0	111.0	112.0					8																	41794801		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41794801C>T	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3325G>A	8.37:g.41794801C>T	ENSP00000380136:p.Glu1109Lys					KAT6A_ENST00000406337.1_Missense_Mutation_p.E1109K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1109K	p.E1109K	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			17	3868	-			1109					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.3325G>A	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221713	0.58560	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.59224	0.28;0.28;0.28	5.63	5.63	0.86233	.	0.572288	0.16272	N	0.221734	T	0.47210	0.1433	L	0.34521	1.04	0.52099	D	0.999942	B	0.20780	0.048	B	0.18263	0.021	T	0.39078	-0.9631	10	0.09084	T	0.74	-1.715	17.8777	0.88830	0.0:1.0:0.0:0.0	.	1109	Q92794	KAT6A_HUMAN	K	1109;1109;1109;689	ENSP00000265713:E1109K;ENSP00000385888:E1109K;ENSP00000380136:E1109K	ENSP00000265713:E1109K	E	-	1	0	KAT6A	41913958	0.978000	0.34361	0.988000	0.46212	0.906000	0.53458	4.279000	0.58953	2.663000	0.90544	0.650000	0.86243	GAA		0.403	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		45	212	0	0	0	1	0	45	212				
UBR4	23352	broad.mit.edu	37	1	19439063	19439063	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:19439063G>A	ENST00000375254.3	-	78	11783	c.11756C>T	c.(11755-11757)gCg>gTg	p.A3919V	UBR4_ENST00000375267.2_Missense_Mutation_p.A3919V|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.A3912V|UBR4_ENST00000375226.2_Missense_Mutation_p.A3895V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3919					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCGCATGGCCGCAGCCCCTCG	0.597																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(11755-11757)gCg>gTg		ubiquitin protein ligase E3 component n-recognin 4							63.0	69.0	67.0					1																	19439063		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19439063G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11756C>T	1.37:g.19439063G>A	ENSP00000364403:p.Ala3919Val					UBR4_ENST00000375254.3_Missense_Mutation_p.A3919V|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.A3912V|UBR4_ENST00000375226.2_Missense_Mutation_p.A3895V	p.A3919V			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	78	11759	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3919					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.11756C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847832	0.51164	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.85	5.85	0.93711	.	0.106897	0.64402	D	0.000006	T	0.43411	0.1246	N	0.11064	0.09	0.80722	D	1	B	0.27971	0.196	B	0.21151	0.033	T	0.35822	-0.9773	10	0.16420	T	0.52	.	18.7215	0.91697	0.0:0.0:1.0:0.0	.	3919	Q5T4S7	UBR4_HUMAN	V	3919;3919;3912;3895	ENSP00000364403:A3919V;ENSP00000364416:A3919V;ENSP00000364365:A3912V;ENSP00000364374:A3895V	ENSP00000364365:A3912V	A	-	2	0	UBR4	19311650	1.000000	0.71417	0.963000	0.40424	0.927000	0.56198	7.056000	0.76662	2.767000	0.95098	0.655000	0.94253	GCG		0.597	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	540	0	0	0	1	0	6	540				
CNTNAP3B	728577	broad.mit.edu	37	9	43828154	43828154	+	Silent	SNP	T	T	C	rs140150445	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:43828154T>C	ENST00000377564.3	+	9	1803	c.1410T>C	c.(1408-1410)gaT>gaC	p.D470D		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	470	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TGGTGGTGGATGATGACACAG	0.488													N|||	1183	0.236222	0.1959	0.2205	5008	,	,		7253	0.4127		0.2316	False		,,,				2504	0.1247					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1408-1410)gaT>gaC		contactin associated protein-like 3B																																				SO:0001819	synonymous_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43828154T>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1410T>C	9.37:g.43828154T>C							p.D470D	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			9	1803	+			470			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Silent	SNP	ENST00000377564.3	37	c.1410T>C	CCDS55312.1	384	0.17582417582417584	58	0.11788617886178862	46	0.1270718232044199	151	0.263986013986014	129	0.17018469656992086	N	2.598	-0.293646	0.05568	.	.	ENSG00000154529	ENST00000377561	.	.	.	2.66	-2.45	0.06481	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.54753	P	1.6000000000016E-5	.	.	.	.	.	.	T	0.26052	-1.0114	3	.	.	.	.	8.7373	0.34537	0.0:0.505:0.0:0.495	.	.	.	.	T	519	.	.	M	+	2	0	CNTNAP3B	43768150	0.002000	0.14202	0.000000	0.03702	0.123000	0.20343	-1.157000	0.03157	-0.975000	0.03546	-2.339000	0.00246	ATG		0.488	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			4	121	0	0	0	1	0	4	121				
PPP1R3A	5506	broad.mit.edu	37	7	113558325	113558325	+	Missense_Mutation	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:113558325G>T	ENST00000284601.3	-	1	795	c.727C>A	c.(727-729)Cca>Aca	p.P243T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	243					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTTCCATGGTTTTACAGGC	0.313																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(727-729)Cca>Aca		protein phosphatase 1, regulatory subunit 3A							107.0	111.0	110.0					7																	113558325		2201	4298	6499	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558325G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.727C>A	7.37:g.113558325G>T	ENSP00000284601:p.Pro243Thr						p.P243T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	795	-			243					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.727C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	3.618	-0.078195	0.07184	.	.	ENSG00000154415	ENST00000284601	T	0.18174	2.23	5.81	3.66	0.41972	.	0.317119	0.29956	N	0.010769	T	0.17023	0.0409	L	0.48642	1.525	0.09310	N	0.999995	B	0.28713	0.22	B	0.29267	0.1	T	0.16837	-1.0389	10	0.62326	D	0.03	-0.5475	12.1833	0.54223	0.0702:0.2266:0.7032:0.0	.	243	Q16821	PPR3A_HUMAN	T	243	ENSP00000284601:P243T	ENSP00000284601:P243T	P	-	1	0	PPP1R3A	113345561	0.185000	0.23213	0.213000	0.23690	0.163000	0.22366	1.606000	0.36826	1.437000	0.47472	0.591000	0.81541	CCA		0.313	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		5	492	1	0	0.00198382	1	0.0020468	5	492				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		14	94	1	0	1.5739e-10	1	1.71458e-10	14	94				
GGT3P	2679	broad.mit.edu	37	22	18778601	18778601	+	RNA	SNP	C	C	T	rs200601572		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:18778601C>T	ENST00000412448.1	-	0	804							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCTTGGCATCCGCGGCCACGG	0.627																																						ENST00000412448.1																			0																																																			0							g.chr22:18778601C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778601C>T														0	804	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.627	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		13	26	0	0	0	1	0	13	26				
LPHN2	23266	broad.mit.edu	37	1	82408793	82408793	+	Missense_Mutation	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:82408793A>G	ENST00000370728.1	+	8	1183	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	LPHN2_ENST00000335786.5_Missense_Mutation_p.T180A|LPHN2_ENST00000370715.1_Missense_Mutation_p.T180A|LPHN2_ENST00000271029.4_Missense_Mutation_p.T180A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.T180A|LPHN2_ENST00000359929.3_Missense_Mutation_p.T180A|LPHN2_ENST00000370730.1_Missense_Mutation_p.T180A|LPHN2_ENST00000319517.6_Missense_Mutation_p.T180A|LPHN2_ENST00000370713.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T184A|LPHN2_ENST00000370725.1_Missense_Mutation_p.T180A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370717.2_Missense_Mutation_p.T180A			O95490	LPHN2_HUMAN	latrophilin 2	180	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCCCTATCGTACCGATACTTT	0.393																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(538-540)Acc>Gcc		latrophilin 2							75.0	80.0	78.0					1																	82408793		2202	4298	6500	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82408793A>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.538A>G	1.37:g.82408793A>G	ENSP00000359763:p.Thr180Ala					LPHN2_ENST00000370725.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370713.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370730.1_Missense_Mutation_p.T180A|LPHN2_ENST00000271029.4_Missense_Mutation_p.T180A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T180A|LPHN2_ENST00000319517.6_Missense_Mutation_p.T180A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.T180A|LPHN2_ENST00000335786.5_Missense_Mutation_p.T180A|LPHN2_ENST00000359929.3_Missense_Mutation_p.T180A|LPHN2_ENST00000370727.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T184A|LPHN2_ENST00000370717.2_Missense_Mutation_p.T180A	p.T180A			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1183	+			180			Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.538A>G		.	.	.	.	.	.	.	.	.	.	A	18.66	3.672334	0.67928	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.38;-0.48;-0.45;-0.4;-0.42;-0.38;-0.42;-0.43;-0.43;-0.42;-0.42;-0.38;-0.4;-0.45	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.73598	2.24	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.991	D;P;P	0.66716	0.946;0.861;0.835	T	0.83271	-0.0043	10	0.87932	D	0	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	180;180;180	O95490-3;O95490-4;O95490-2	.;.;.	A	184;180;180;180;180;180;180;180;180;180;180;180;180;180	ENSP00000359756:T184A;ENSP00000359763:T180A;ENSP00000359765:T180A;ENSP00000359762:T180A;ENSP00000359760:T180A;ENSP00000359758:T180A;ENSP00000353006:T180A;ENSP00000359750:T180A;ENSP00000359748:T180A;ENSP00000322270:T180A;ENSP00000359752:T180A;ENSP00000378344:T180A;ENSP00000271029:T180A;ENSP00000337306:T180A	ENSP00000271029:T180A	T	+	1	0	LPHN2	82181381	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.339000	0.96797	2.251000	0.74343	0.528000	0.53228	ACC		0.393	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		67	248	0	0	0	1	0	67	248				
TGFBI	7045	broad.mit.edu	37	5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																						ENST00000442011.2																			1	Substitution - Missense(1)	p.G460D(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gGc>gAc		transforming growth factor, beta-induced, 68kDa							179.0	180.0	179.0					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	876	0	0	0	1	0	6	876				
USP10	9100	broad.mit.edu	37	16	84793046	84793046	+	Silent	SNP	G	G	A	rs113266067		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:84793046G>A	ENST00000219473.7	+	6	1475	c.1362G>A	c.(1360-1362)agG>agA	p.R454R	USP10_ENST00000570191.1_Silent_p.R458R	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	454	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAGTGCAAAGGCCTTGTACGT	0.448																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1360-1362)agG>agA		ubiquitin specific peptidase 10							126.0	110.0	115.0					16																	84793046		1974	4152	6126	SO:0001819	synonymous_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84793046G>A	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1362G>A	16.37:g.84793046G>A						USP10_ENST00000570191.1_Silent_p.R458R	p.R454R	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			6	1475	+			454					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.1362G>A	CCDS45537.1																																																																																				0.448	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			8	261	0	0	0	1	0	8	261				
GPR84	53831	broad.mit.edu	37	12	54756514	54756514	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:54756514G>A	ENST00000551809.1	-	1	1757	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.N374N			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	374						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GGAATTGGCGGTTCATGGCTG	0.542																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(1120-1122)aaC>aaT		G protein-coupled receptor 84							153.0	173.0	167.0					12																	54756514		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756514G>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1122C>T	12.37:g.54756514G>A						RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.N374N	p.N374N			Q9NQS5	GPR84_HUMAN			1	1757	-			374					B6V9G7	Silent	SNP	ENST00000551809.1	37	c.1122C>T	CCDS8878.1																																																																																				0.542	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			7	878	0	0	0	1	0	7	878				
LAMB2	3913	broad.mit.edu	37	3	49168195	49168195	+	Silent	SNP	G	G	A	rs150731491		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:49168195G>A	ENST00000418109.1	-	9	1178	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	LAMB2_ENST00000305544.4_Silent_p.D338D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	338	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACTATGGCCGTCCTCAGCCG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20640	0.0		0.001	False		,,,				2504	0.0					ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1012-1014)gaC>gaT		laminin, beta 2 (laminin S)		G		1,4405	2.1+/-5.4	0,1,2202	144.0	138.0	140.0		1014	-9.0	0.7	3	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	LAMB2	NM_002292.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		338/1799	49168195	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49168195G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1014C>T	3.37:g.49168195G>A						LAMB2_ENST00000305544.4_Silent_p.D338D	p.D338D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	9	1178	-			338			Laminin EGF-like 1.		Q16321	Silent	SNP	ENST00000418109.1	37	c.1014C>T	CCDS2789.1																																																																																				0.577	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		6	687	0	0	0	1	0	6	687				
RBFOX1	54715	broad.mit.edu	37	16	7568354	7568354	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:7568354C>T	ENST00000550418.1	+	5	1221	c.233C>T	c.(232-234)gCg>gTg	p.A78V	RBFOX1_ENST00000311745.5_Missense_Mutation_p.A98V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A98V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A121V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A121V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000340209.4_Missense_Mutation_p.A83V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A114V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A114V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A98V	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	78					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGAGCCCGGCGGACACGAGC	0.652																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(247-249)gCg>gTg		RNA binding protein, fox-1 homolog (C. elegans) 1							91.0	89.0	90.0					16																	7568354		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568354C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.233C>T	16.37:g.7568354C>T	ENSP00000450031:p.Ala78Val					RBFOX1_ENST00000552089.1_Missense_Mutation_p.A114V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A121V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A98V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A98V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A114V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A98V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A121V	p.A83V			Q9NWB1	RFOX1_HUMAN			2	545	+			78					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.248C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439434	0.43326	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.34667	1.91;1.36;1.66;1.62;1.64;1.74;1.36;1.46;1.64;1.64;1.35	4.28	4.28	0.50868	.	0.373739	0.27927	N	0.017282	T	0.18045	0.0433	N	0.08118	0	0.39474	D	0.967774	B;P;P;P;B;P;B;B;P	0.49185	0.201;0.733;0.778;0.628;0.278;0.92;0.081;0.081;0.879	B;B;B;B;B;B;B;B;B	0.36666	0.057;0.09;0.085;0.115;0.065;0.169;0.065;0.029;0.23	T	0.11665	-1.0578	10	0.48119	T	0.1	-0.0284	13.3828	0.60778	0.0:0.841:0.159:0.0	.	98;114;121;98;98;98;78;78;121	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	V	78;78;78;121;121;114;114;78;78;98;98;98;98;83	ENSP00000450402:A78V;ENSP00000450031:A78V;ENSP00000447753:A78V;ENSP00000446842:A121V;ENSP00000391269:A121V;ENSP00000447281:A78V;ENSP00000447717:A78V;ENSP00000402745:A98V;ENSP00000309117:A98V;ENSP00000347855:A98V;ENSP00000344196:A83V	ENSP00000309117:A98V	A	+	2	0	RBFOX1	7508355	0.942000	0.31987	0.927000	0.36925	0.680000	0.39746	3.805000	0.55575	1.915000	0.55452	0.557000	0.71058	GCG		0.652	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		165	612	0	0	0	1	0	165	612				
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				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 transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			10	936	0	0	0	1	0	10	936				
DNM1P47	100216544	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130									DNM1 pseudogene 47																		GACATCAACATGAACACCATC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305084T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305084T>C														0	13130	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	120	0	0	0	1	0	4	120				
JAKMIP3	282973	broad.mit.edu	37	10	133930823	133930823	+	Silent	SNP	C	C	T	rs368486466		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:133930823C>T	ENST00000298622.4	+	2	516	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	126						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCGTGATGGCGGCCCCGAAA	0.617																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(376-378)ggC>ggT		Janus kinase and microtubule interacting protein 3		C		1,4317		0,1,2158	68.0	84.0	78.0		378	-1.9	0.0	10		78	0,8496		0,0,4248	no	coding-synonymous	JAKMIP3	NM_001105521.2		0,1,6406	TT,TC,CC		0.0,0.0232,0.0078		126/845	133930823	1,12813	2159	4248	6407	SO:0001819	synonymous_variant	282973							g.chr10:133930823C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.378C>T	10.37:g.133930823C>T							p.G126G	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	516	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.378C>T	CCDS44494.1																																																																																				0.617	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		5	390	0	0	0	1	0	5	390				
ZAN	7455	broad.mit.edu	37	7	100350592	100350592	+	RNA	SNP	T	T	C	rs112032841	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:100350592T>C	ENST00000348028.3	+	0	3029				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACTCACCATCCCC	0.512													N|||	10	0.00199681	0.0	0.0043	5008	,	,		19015	0.001		0.005	False		,,,				2504	0.001					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							235.0	279.0	265.0					7																	100350592		1871	4095	5966			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350592T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350592T>C						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3012	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	4.962	0.178753	0.09443	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63417	-0.04;-0.04;-0.04	2.8	2.8	0.32819	.	0.841065	0.09711	N	0.765773	T	0.36468	0.0968	N	0.02960	-0.455	0.18873	N	0.999988	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.23868	-1.0176	10	0.34782	T	0.22	.	8.2876	0.31939	0.0:0.8748:0.0:0.1252	.	955;955	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	955	ENSP00000445943:L955P;ENSP00000445091:L955P;ENSP00000444427:L955P	ENSP00000423579:L955P	L	+	2	0	ZAN	100188528	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.000000	0.12993	0.748000	0.32831	-0.230000	0.12252	CTC		0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		14	619	0	0	0	1	0	14	619				
IFFO1	25900	broad.mit.edu	37	12	6650735	6650735	+	Missense_Mutation	SNP	C	C	T	rs144197395		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:6650735C>T	ENST00000396840.2	-	8	1558	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H	RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000356896.4_Missense_Mutation_p.R510H|IFFO1_ENST00000436152.2_Missense_Mutation_p.R203H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R202H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R509H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	506						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTCCAGGCCGCGCTTCATGCT	0.662																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(607-609)cGc>cAc		intermediate filament family orphan 1		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	94.0	99.0		1529,1553,1526	5.0	1.0	12	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IFFO1	NM_001039670.2,NM_001193457.1,NM_080730.4	29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	510/564,518/572,509/563	6650735	2,13004	2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6650735C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1517G>A	12.37:g.6650735C>T	ENSP00000380052:p.Arg506His					IFFO1_ENST00000396840.2_Missense_Mutation_p.R506H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R510H|IFFO1_ENST00000336604.4_Missense_Mutation_p.R509H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R202H	p.R203H			Q0D2I5	IFFO1_HUMAN			10	1167	-			506					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.608G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.369195|5.369195	0.95900|0.95900	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000010295|ENSG00000010295	ENST00000416019|ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	.|T;T;T;T;T	.|0.13901	.|2.55;2.55;2.55;2.55;2.55	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.38108|0.38108	0.1028|0.1028	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.997;0.999;0.997;0.997;0.997;0.996	T|T	0.17930|0.17930	-1.0353|-1.0353	5|10	.|0.66056	.|D	.|0.02	-16.3948|-16.3948	18.3492|18.3492	0.90331|0.90331	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|509;202;509;506;510;211	.|Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.|.;.;.;IFFO1_HUMAN;.;.	T|H	240|203;202;509;506;510;146	.|ENSP00000390721:R203H;ENSP00000436261:R202H;ENSP00000337593:R509H;ENSP00000380052:R506H;ENSP00000349364:R510H	.|ENSP00000337593:R509H	A|R	-|-	1|2	0|0	IFFO1|IFFO1	6520996|6520996	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.931000|0.931000	0.56810|0.56810	7.788000|7.788000	0.85771|0.85771	2.311000|2.311000	0.77944|0.77944	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.662	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		72	395	0	0	0	1	0	72	395				
L3MBTL1	26013	broad.mit.edu	37	20	42161441	42161441	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:42161441G>A	ENST00000427442.2	+	12	1406	c.1247G>A	c.(1246-1248)gGc>gAc	p.G416D	L3MBTL1_ENST00000444063.1_Missense_Mutation_p.G348D|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G348D|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.G416D|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.G348D			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	348					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCCAGGTGGGCATGAAGCTG	0.612																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1042-1044)gGc>gAc		l(3)mbt-like 1 (Drosophila)							115.0	114.0	115.0					20																	42161441		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42161441G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1247G>A	20.37:g.42161441G>A	ENSP00000402107:p.Gly416Asp					L3MBTL1_ENST00000427442.2_Missense_Mutation_p.G416D|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.G416D|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.G348D|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G348D	p.G348D			Q9Y468	LMBL1_HUMAN			9	1175	+			348					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1043G>A	CCDS46602.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.269847|5.269847	0.95429|0.95429	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000445228|ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861	.|T;T;T;T;T;T	.|0.72615	.|-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85383|0.85383	0.5684|0.5684	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.81914	.|0.995;0.985;0.995	D|D	0.87290|0.87290	0.2298|0.2298	5|10	.|0.87932	.|D	.|0	.|.	17.6309|17.6309	0.88108|0.88108	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|416;348;348	.|Q9Y468-5;Q9Y468-2;Q9Y468-1	.|.;.;.	T|D	39|416;416;348;348;348;134	.|ENSP00000402107:G416D;ENSP00000398516:G416D;ENSP00000362227:G348D;ENSP00000403316:G348D;ENSP00000362226:G348D;ENSP00000410139:G134D	.|ENSP00000362226:G348D	A|G	+|+	1|2	0|0	L3MBTL1|L3MBTL1	41594855|41594855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.598000|9.598000	0.98277|0.98277	2.688000|2.688000	0.91661|0.91661	0.591000|0.591000	0.81541|0.81541	GCA|GGC		0.612	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		6	859	0	0	0	1	0	6	859				
HNRNPM	4670	broad.mit.edu	37	19	8550904	8550904	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:8550904G>A	ENST00000325495.4	+	14	1633	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R492H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	531	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						AGCATGGAGCGCATGGTGCCC	0.687																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1474-1476)cGc>cAc		heterogeneous nuclear ribonucleoprotein M							48.0	51.0	50.0					19																	8550904		2202	4297	6499	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.chr19:8550904G>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.1592G>A	19.37:g.8550904G>A	ENSP00000325376:p.Arg531His					HNRNPM_ENST00000325495.4_Missense_Mutation_p.R531H	p.R492H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1707	+			531			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1475G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841754	0.51057	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.27720	1.8;1.65	5.62	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.60455	1.87	0.58432	D	0.999999	B;P;D;B	0.52996	0.014;0.928;0.957;0.102	B;B;B;B	0.39876	0.003;0.226;0.312;0.01	T	0.20042	-1.0287	10	0.72032	D	0.01	.	13.1101	0.59268	0.0774:0.0:0.9226:0.0	.	371;531;492;416	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	H	531;492;416;88	ENSP00000325376:R531H;ENSP00000325732:R492H	ENSP00000325376:R531H	R	+	2	0	HNRNPM	8456904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.842000	0.69417	1.375000	0.46248	0.591000	0.81541	CGC		0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			5	489	0	0	0	1	0	5	489				
CRYGA	1418	broad.mit.edu	37	2	209025627	209025627	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:209025627C>T	ENST00000304502.4	-	3	445	c.426G>A	c.(424-426)cgG>cgA	p.R142R		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	142	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GCAGATACTGCCGCCCCCGGT	0.577																																						ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(424-426)cgG>cgA		crystallin, gamma A							85.0	89.0	87.0					2																	209025627		2203	4300	6503	SO:0001819	synonymous_variant	1418							g.chr2:209025627C>T		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.426G>A	2.37:g.209025627C>T							p.R142R	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	3	445	-								Q53ST5	Silent	SNP	ENST00000304502.4	37	c.426G>A	CCDS33367.1																																																																																				0.577	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		7	681	0	0	0	1	0	7	681				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	110	0	0	0	1	0	5	110				
PCDHGA10	56106	broad.mit.edu	37	5	140793857	140793857	+	Missense_Mutation	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140793857T>C	ENST00000398610.2	+	1	1115	c.1115T>C	c.(1114-1116)cTt>cCt	p.L372P	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGTAGCCCTTTTAAATGTG	0.398																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1114-1116)cTt>cCt									69.0	68.0	69.0					5																	140793857		1912	4120	6032	SO:0001583	missense	0							g.chr5:140793857T>C		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1115T>C	5.37:g.140793857T>C	ENSP00000381611:p.Leu372Pro					PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron	p.L372P	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1115	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1115T>C	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	t	16.19	3.053234	0.55218	.	.	ENSG00000253846	ENST00000398610	T	0.52754	0.65	5.18	5.18	0.71444	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.78786	0.4338	H	0.96691	3.865	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.80764	0.986;0.994	D	0.86326	0.1695	9	0.87932	D	0	.	14.7125	0.69244	0.0:0.0:0.0:1.0	.	372;372	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	P	372	ENSP00000381611:L372P	ENSP00000381611:L372P	L	+	2	0	PCDHGA10	140774041	0.873000	0.30073	0.996000	0.52242	0.668000	0.39293	5.180000	0.65048	1.949000	0.56562	0.528000	0.53228	CTT		0.398	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		4	163	0	0	0	1	0	4	163				
PROSER3	148137	broad.mit.edu	37	19	36253204	36253204	+	Missense_Mutation	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:36253204G>T	ENST00000544099.1	+	5	553	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	C19orf55_ENST00000396908.4_Missense_Mutation_p.V164F|C19orf55_ENST00000537459.1_Missense_Mutation_p.V164F|C19orf55_ENST00000421853.2_Missense_Mutation_p.V64F|C19orf55_ENST00000536950.1_Missense_Mutation_p.V163F			Q2NL68	PRSR3_HUMAN		164										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTACTGCGGTCAACGTGAC	0.572																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(490-492)Gtc>Ttc		chromosome 19 open reading frame 55							66.0	71.0	69.0					19																	36253204		2025	4196	6221	SO:0001583	missense	148137							g.chr19:36253204G>T																												ENST00000544099.1:c.490G>T	19.37:g.36253204G>T	ENSP00000467267:p.Val164Phe					C19orf55_ENST00000396908.4_Missense_Mutation_p.V164F|C19orf55_ENST00000421853.2_Missense_Mutation_p.V64F|C19orf55_ENST00000537459.1_Missense_Mutation_p.V164F|C19orf55_ENST00000536950.1_Missense_Mutation_p.V163F	p.V164F			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	553	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		164					Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37	c.490G>T		.	.	.	.	.	.	.	.	.	.	G	10.66	1.413686	0.25465	.	.	ENSG00000167595	ENST00000444637;ENST00000396908;ENST00000301165;ENST00000537459;ENST00000545674	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.88	-1.07	0.09968	.	1.131890	0.06870	N	0.800665	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	B;B;B	0.31351	0.32;0.115;0.115	B;B;B	0.29267	0.086;0.1;0.1	T	0.22871	-1.0204	10	0.48119	T	0.1	-1.0686	6.7356	0.23407	0.5021:0.0:0.4979:0.0	.	164;163;164	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	F	78;164;163;79;78	ENSP00000394231:V78F;ENSP00000380116:V164F;ENSP00000301165:V163F;ENSP00000440357:V78F	ENSP00000301165:V163F	V	+	1	0	C19orf55	40945044	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.503000	0.22610	-0.106000	0.12110	-0.781000	0.03364	GTC		0.572	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			10	52	1	0	7.48243e-07	1	7.97308e-07	10	52				
CCT6P3	643180	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		gaggcggtggcggcggcggca	0.786																																						ENST00000426828.1																			0																																																			0							g.chr7:64498737C>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498737C>A								NR_033416.1						0	0	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.786	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			5	70	1	0	0.00448238	1	0.00457625	5	70				
FAM208B	54906	broad.mit.edu	37	10	5781711	5781711	+	Silent	SNP	C	C	T	rs375225511		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:5781711C>T	ENST00000328090.5	+	13	2203	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	526																	AAAACTCCATCGTCAACTATG	0.418																																						ENST00000328090.5																			0											c.(1576-1578)atC>atT		family with sequence similarity 208, member B		C		1,3835		0,1,1917	124.0	115.0	118.0		1578	-3.3	0.0	10		118	0,8274		0,0,4137	no	coding-synonymous	FAM208B	NM_017782.4		0,1,6054	TT,TC,CC		0.0,0.0261,0.0083		526/2431	5781711	1,12109	1918	4137	6055	SO:0001819	synonymous_variant	54906							g.chr10:5781711C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1578C>T	10.37:g.5781711C>T						RP11-336A10.2_ENST00000411512.2_RNA	p.I526I	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			13	2203	+			526					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.1578C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	6.800	0.516549	0.12944	2.61E-4	0.0	ENSG00000108021	ENST00000380270	.	.	.	5.59	-3.27	0.05048	.	.	.	.	.	T	0.27454	0.0674	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32428	-0.9907	4	.	.	.	.	6.1052	0.20069	0.0:0.3142:0.3456:0.3402	.	.	.	.	C	225	.	.	R	+	1	0	C10orf18	5821717	0.000000	0.05858	0.000000	0.03702	0.879000	0.50718	-0.651000	0.05372	-0.493000	0.06678	-0.573000	0.04149	CGT		0.418	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		11	497	0	0	0	1	0	11	497				
FCRLB	127943	broad.mit.edu	37	1	161696656	161696656	+	Missense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:161696656C>A	ENST00000367948.2	+	7	953	c.738C>A	c.(736-738)ttC>ttA	p.F246L	FCRLB_ENST00000367946.3_Nonsense_Mutation_p.S198*|FCRLB_ENST00000392158.1_Missense_Mutation_p.F246L|FCRLB_ENST00000367944.3_Silent_p.R205R|FCRLB_ENST00000367945.1_Nonsense_Mutation_p.S191*|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000336830.5_Silent_p.R212R			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	246					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGCGCCGCTTCGACTGGGGCG	0.687																																						ENST00000367946.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(592-594)tCg>tAg		Fc receptor-like B							8.0	10.0	9.0					1																	161696656		2176	4273	6449	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161696656C>A	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.738C>A	1.37:g.161696656C>A	ENSP00000356925:p.Phe246Leu					FCRLB_ENST00000392158.1_Missense_Mutation_p.F246L|FCRLB_ENST00000367944.3_Silent_p.R205R|FCRLB_ENST00000367948.2_Missense_Mutation_p.F246L|FCRLB_ENST00000336830.5_Silent_p.R212R|FCRLB_ENST00000367945.1_Nonsense_Mutation_p.S191*|FCRLB_ENST00000495397.1_3'UTR	p.S198*			Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		5	607	+	all_hematologic(112;0.0359)		309					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Nonsense_Mutation	SNP	ENST00000367948.2	37	c.593C>A	CCDS30927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.331949|5.331949	0.95733|0.95733	.|.	.|.	ENSG00000162746|ENSG00000162746	ENST00000367948;ENST00000392158|ENST00000367946;ENST00000367945	D;D|.	0.97186|.	-4.28;-4.28|.	4.43|4.43	0.293|0.293	0.15742|0.15742	.|.	0.715847|.	0.12717|.	N|.	0.444983|.	T|.	0.40670|.	0.1126|.	M|M	0.85542|0.85542	2.76|2.76	0.31219|0.31219	N|N	0.697653|0.697653	B|.	0.24426|.	0.103|.	B|.	0.20577|.	0.03|.	T|.	0.39542|.	-0.9609|.	10|.	0.22706|0.62326	T|D	0.39|0.03	.|.	3.0548|3.0548	0.06181|0.06181	0.0:0.4076:0.2231:0.3693|0.0:0.4076:0.2231:0.3693	.|.	246|.	Q6BAA4|.	FCRLB_HUMAN|.	L|X	246|198;191	ENSP00000356925:F246L;ENSP00000375999:F246L|.	ENSP00000356925:F246L|ENSP00000356922:S191X	F|S	+|+	3|2	2|0	FCRLB|FCRLB	159963280|159963280	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	-0.204000|-0.204000	0.09425|0.09425	0.324000|0.324000	0.23333|0.23333	0.555000|0.555000	0.69702|0.69702	TTC|TCG		0.687	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		12	61	1	0	0.00136819	1	0.00141914	12	61				
SNHG14	104472715	broad.mit.edu	37	15	25310190	25310190	+	RNA	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:25310190T>C	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNORD116-5_ENST00000384462.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TGATGAGTCCTCCAAAAAAAA	0.483																																						ENST00000549804.2																			0																				163.0	148.0	153.0					15																	25310190		876	1991	2867			0							g.chr15:25310190T>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.25310190T>C						SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA								0	538	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.483	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			7	533	0	0	0	1	0	7	533				
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310192	+	RNA	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:25310192C>A	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNORD116-5_ENST00000384462.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATGAGTCCTCCAAAAAAAACA	0.478																																						ENST00000549804.2																			0																				167.0	152.0	156.0					15																	25310192		876	1991	2867			0							g.chr15:25310192C>A			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.25310192C>A						SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA								0	538	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.478	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			6	548	1	0	0.00116845	1	0.00121843	6	548				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	215	0	0	0	1	0	7	215				
ABCA4	24	broad.mit.edu	37	1	94502769	94502769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:94502769C>A	ENST00000370225.3	-	25	3831	c.3745G>T	c.(3745-3747)Gag>Tag	p.E1249*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1249					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)		TCCTCCAGCTCTCTGAAAAGG	0.473																																						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						c.(3745-3747)Gag>Tag		ATP-binding cassette, sub-family A (ABC1), member 4							107.0	109.0	108.0					1																	94502769		2203	4300	6503	SO:0001587	stop_gained	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94502769C>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.3745G>T	1.37:g.94502769C>A	ENSP00000359245:p.Glu1249*						p.E1249*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	25	3831	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1249					O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	c.3745G>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	44	10.838638	0.99476	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	.	.	.	X	41;1249	.	ENSP00000359245:E1249X	E	-	1	0	ABCA4	94275357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.932000	0.70121	2.861000	0.98227	0.655000	0.94253	GAG		0.473	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	474	1	0	7.48243e-07	1	7.97308e-07	9	474				
NACA	4666	broad.mit.edu	37	12	57111542	57111542	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:57111542G>A	ENST00000454682.1	-	3	4053	c.3772C>T	c.(3772-3774)Cca>Tca	p.P1258S	NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1258	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						TTGGGGGGTGGGGTAGCTGGG	0.657			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.(3772-3774)Cca>Tca		nascent polypeptide-associated complex alpha subunit							43.0	63.0	57.0					12																	57111542		1214	2834	4048	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111542G>A	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.3772C>T	12.37:g.57111542G>A	ENSP00000403817:p.Pro1258Ser					NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron	p.P1258S	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4053	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3772C>T		.	.	.	.	.	.	.	.	.	.	G	6.928	0.540853	0.13250	.	.	ENSG00000196531	ENST00000454682	T	0.55930	0.49	4.25	-2.16	0.07080	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.09310	N	1	B	0.26081	0.141	B	0.20955	0.032	T	0.15636	-1.0430	7	.	.	.	.	2.1941	0.03906	0.1317:0.3448:0.2917:0.2319	.	1258	E9PAV3	.	S	1258	ENSP00000403817:P1258S	.	P	-	1	0	NACA	55397809	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.673000	0.05239	-0.084000	0.12595	0.298000	0.19748	CCA		0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		8	713	0	0	0	1	0	8	713				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		8	763	0	0	0	1	0	8	763				
MUC17	140453	broad.mit.edu	37	7	100684253	100684253	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:100684253G>A	ENST00000306151.4	+	3	9620	c.9556G>A	c.(9556-9558)Gca>Aca	p.A3186T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3186	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)					CACCCTTTCAGCAACTCCTGT	0.483																																						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.(9556-9558)Gca>Aca		mucin 17, cell surface associated							291.0	294.0	293.0					7																	100684253		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684253G>A	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.9556G>A	7.37:g.100684253G>A	ENSP00000302716:p.Ala3186Thr						p.A3186T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9620	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3186			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9556G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.320	-0.139008	0.06669	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	1.34	-1.96	0.07525	.	.	.	.	.	T	0.00845	0.0028	N	0.02539	-0.55	0.09310	N	1	B	0.17667	0.023	B	0.18263	0.021	T	0.44757	-0.9307	9	0.06757	T	0.87	.	4.509	0.11901	0.2777:0.2211:0.5012:0.0	.	3186	Q685J3	MUC17_HUMAN	T	3186	ENSP00000302716:A3186T	ENSP00000302716:A3186T	A	+	1	0	MUC17	100470973	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.602000	0.00110	-1.177000	0.02744	-1.958000	0.00481	GCA		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	1350	0	0	0	1	0	9	1350				
CAMTA1	23261	broad.mit.edu	37	1	7811329	7811329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:7811329delA	ENST00000303635.7	+	20	4967	c.4760delA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs|CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1587	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TACTATGAACAAAAAAAATTC	0.473			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		1	Deletion - Frameshift(1)	p.K1589fs*33(1)	lung(1)	breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(4759-4761)cafs		calmodulin binding transcription activator 1							143.0	160.0	154.0					1																	7811329		2203	4300	6503	SO:0001589	frameshift_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7811329delA	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4760delA	1.37:g.7811329delA	ENSP00000306522:p.Gln1587fs					CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs|CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs	p.Q1587fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	20	4967	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1587			IQ 2.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Frame_Shift_Del	DEL	ENST00000303635.7	37	c.4760delA	CCDS30576.1																																																																																				0.473	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		7	1090						7	1090	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2407-2409)gfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255142_16255143delGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2407_2408delGA	1.37:g.16255152_16255153delGA	ENSP00000364912:p.Glu803fs						p.E803fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2611_2612	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	803			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.2407_2408delGA	CCDS164.1																																																																																				0.431	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		7	430						7	430	---	---	---	---
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)gaadel	p.E433del	ZBTB8A_ENST00000316459.4_3'UTR|RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8OS_ENST00000341885.5_Intron	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(1285-1287)del		zinc finger and BTB domain containing 8A				3,6,4257		0,0,3,0,6,2124						1.9	1.0			101	0,20,8234		0,0,0,0,20,4107	no	codingComplex	ZBTB8A	NM_001040441.1		0,0,3,0,26,6231	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2423,0.211,0.2316				3,26,12491				SO:0001651	inframe_deletion	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33065979_33065981delGAA	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.1285_1287delGAA	1.37:g.33065988_33065990delGAA	ENSP00000362609:p.Glu433del					ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR|RP1-27O5.3_ENST00000480336.1_3'UTR	p.E433del	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			5	1514_1516	+			433			Poly-Glu.		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	In_Frame_Del	DEL	ENST00000373510.4	37	c.1285_1287delGAA	CCDS30664.1																																																																																				0.414	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		7	354						7	354	---	---	---	---
LRRC41	10489	broad.mit.edu	37	1	46752129	46752129	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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		8	337						8	337	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(187-192)cga>c		hemochromatosis type 2 (juvenile)			,,,	49,31,4178		2,0,45,10,11,2061					,,,	2.7	0.0			51	5,73,8160		0,0,5,23,27,4064	no	codingComplex,intron,intron,utr-5	HFE2	NM_213653.3,NM_213652.3,NM_202004.3,NM_145277.4	,,,	2,0,50,33,38,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9468,1.8788,1.2644	,,,	,,,		54,104,12338				SO:0001651	inframe_deletion	148738				axon guidance	anchored to membrane		g.chr1:145415369_145415371delGAG	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.188_190delGAG	1.37:g.145415378_145415380delGAG	ENSP00000337014:p.Gly69del					HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR	p.RG63del	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	426_428	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		63					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	In_Frame_Del	DEL	ENST00000336751.5	37	c.188_190delGAG	CCDS910.1																																																																																				0.626	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		8	386						8	386	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152086555	152086556	+	Start_Codon_Ins	INS	-	-	T	rs141946179	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:152086555_152086556insT	ENST00000368804.1	-	0	0_1					NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin						keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGTGGAGACATTTTTTTTTCT	0.361																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105								trichohyalin																																				SO:0001582	initiator_codon_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152086555_152086556insT	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2dupA	1.37:g.152086564_152086564dupT								NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		0	0_1	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)							Q5VUI3	Translation_Start_Site	INS	ENST00000368804.1	37		CCDS41396.1																																																																																				0.361	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	188						7	188	---	---	---	---
SPRR4	163778	broad.mit.edu	37	1	152944390	152944392	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:152944390_152944392delGCA	ENST00000328051.2	+	2	73_75	c.24_26delGCA	c.(22-27)cggcag>cgg	p.Q12del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	12	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcggcagcagcagcag	0.552																																						ENST00000328051.2																			0				lung(1)|prostate(1)	2						c.(22-27)cgg>cg		small proline-rich protein 4																																				SO:0001651	inframe_deletion	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944390_152944392delGCA	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.24_26delGCA	1.37:g.152944399_152944401delGCA	ENSP00000332163:p.Gln12del						p.RQ8del	NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	73_75	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		8			Gln-rich.		Q2M1Y7|Q5T522	In_Frame_Del	DEL	ENST00000328051.2	37	c.24_26delGCA	CCDS1031.1																																																																																				0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		7	634						7	634	---	---	---	---
RIT1	6016	broad.mit.edu	37	1	155870237	155870237	+	Frame_Shift_Del	DEL	T	T	-	rs372170139		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:155870237delT	ENST00000368323.3	-	6	806	c.602delA	c.(601-603)aacfs	p.N201fs	RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	201					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCATACACTGTTTTTGGGCTT	0.413																																						ENST00000368323.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19						c.(601-603)acfs		Ras-like without CAAX 1							302.0	310.0	308.0					1																	155870237		2203	4300	6503	SO:0001589	frameshift_variant	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155870237delT	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.602delA	1.37:g.155870237delT	ENSP00000357306:p.Asn201fs					RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000461050.1_5'UTR	p.N201fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		6	806	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		201					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Frame_Shift_Del	DEL	ENST00000368323.3	37	c.602delA	CCDS1123.1																																																																																				0.413	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		8	1756						8	1756	---	---	---	---
GPATCH4	54865	broad.mit.edu	37	1	156565503	156565504	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:156565503_156565504insT	ENST00000438976.2	-	8	659_660	c.629_630insA	c.(628-630)aagfs	p.K210fs	GPATCH4_ENST00000368232.4_Frame_Shift_Ins_p.K205fs|GPATCH4_ENST00000497287.1_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	205							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTCTTTTTCTTTTTTTTGGG	0.535																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(613-615)aaafs		G patch domain containing 4																																				SO:0001589	frameshift_variant	54865					intracellular	nucleic acid binding	g.chr1:156565503_156565504insT	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.630dupA	1.37:g.156565511_156565511dupT	ENSP00000396441:p.Lys210fs					GPATCH4_ENST00000438976.2_Frame_Shift_Ins_p.K210fs|GPATCH4_ENST00000497287.1_5'UTR	p.K205fs	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	746_747	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		205					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Frame_Shift_Ins	INS	ENST00000438976.2	37	c.614_615insA	CCDS44245.1																																																																																				0.535	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		7	590						7	590	---	---	---	---
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	204	Poly-Leu.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(610-615)ttg>t		G protein-coupled receptor 25				110,4002		8,94,1954						2.2	1.0			14	235,7753		17,201,3776	no	coding	GPR25	NM_005298.2		25,295,5730	A1A1,A1R,RR		2.9419,2.6751,2.8512				345,11755				SO:0001651	inframe_deletion	2848					integral to plasma membrane		g.chr1:200842776_200842778delTGC	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.611_613delTGC	1.37:g.200842785_200842787delTGC	ENSP00000301917:p.Leu209del						p.LL208del	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	694_696	+			208			Poly-Leu.		A0AVJ5	In_Frame_Del	DEL	ENST00000304244.2	37	c.611_613delTGC	CCDS1405.1																																																																																				0.724	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		12	212						12	212	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2872-2874)del		importin 9				1,4265		0,1,2132						-9.5	0.1			127	2,8252		0,2,4125	no	coding	IPO9	NM_018085.4		0,3,6257	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001651	inframe_deletion	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843998_201844000delGAG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2872_2874delGAG	1.37:g.201844007_201844009delGAG	ENSP00000354742:p.Glu962del						p.E962del	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2941_2943	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	c.2872_2874delGAG	CCDS1415.1																																																																																				0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		8	517						8	517	---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:202097525_202097527delCTG	ENST00000367282.5	+	2	1393_1395	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	436	Cys-rich.				negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(1285-1290)gac>ga		G protein-coupled receptor 37 like 1				2,128,4136		0,0,2,9,110,2012						3.1	1.0			46	5,240,8007		0,0,5,10,220,3891	no	codingComplex	GPR37L1	NM_004767.3		0,0,7,19,330,5903	A1A1,A1A2,A1R,A2A2,A2R,RR		2.969,3.0474,2.9957				7,368,12143				SO:0001651	inframe_deletion	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097525_202097527delCTG	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1287_1289delCTG	1.37:g.202097534_202097536delCTG	ENSP00000356251:p.Cys436del						p.DC429del	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			2	1393_1395	+			429			Cys-rich.		B2R7M9|Q5SXP7|Q86VP7	In_Frame_Del	DEL	ENST00000367282.5	37	c.1287_1289delCTG	CCDS1420.1																																																																																				0.626	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		7	206						7	206	---	---	---	---
RAB11FIP5	26056	broad.mit.edu	37	2	73315337	73315339	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:73315337_73315339delTGG	ENST00000258098.6	-	3	1647_1649	c.1407_1409delCCA	c.(1405-1410)caccaa>caa	p.H469del	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	469					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1405-1410)caa>ca		RAB11 family interacting protein 5 (class I)																																				SO:0001651	inframe_deletion	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315337_73315339delTGG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1407_1409delCCA	2.37:g.73315346_73315348delTGG	ENSP00000258098:p.His469del					RAB11FIP5_ENST00000493523.2_5'UTR	p.HQ469del	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			3	1647_1649	-			469					O94939|Q9P0M1	In_Frame_Del	DEL	ENST00000258098.6	37	c.1407_1409delCCA	CCDS1923.1																																																																																				0.635	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		7	944						7	944	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T	rs374250838|rs369805878|rs199562278	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292														393	0.0784744	0.1354	0.0533	5008	,	,		61150	0.0546		0.0567	False		,,,				2504	0.0665					ENST00000436174.1																			0																																																			0							g.chr2:91887905_91887906insT																													2.37:g.91887916_91887916dupT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			11	203						11	203	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3769-3771)atfs		dynein, axonemal, heavy chain 7							103.0	95.0	97.0					2																	196788374		1906	4139	6045	SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788374delT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3770delA	2.37:g.196788374delT	ENSP00000311273:p.Asn1257fs						p.N1257fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3870	-			1257			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	c.3770delA	CCDS42794.1																																																																																				0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		10	304						10	304	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-	rs139294990		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)catfs	p.H565fs	ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000328737.2_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	0										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411																																						ENST00000409153.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1693-1695)tfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197943383_197943384delTG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000409153.1:c.1693_1694delCA	2.37:g.197943393_197943394delTG	ENSP00000387141:p.His565fs					ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000328737.2_Intron	p.H565fs			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	1875_1876	-			811					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Del	DEL	ENST00000409153.1	37	c.1693_1694delCA																																																																																					0.411	ANKRD44-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335114.3	NM_153697		12	83						12	83	---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tcctct>tct	p.55_56SS>S	TMEM40_ENST00000431022.2_In_Frame_Del_p.71_72SS>S|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000435218.2_In_Frame_Del_p.55_56SS>S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	55	Ser-rich.			S -> F (in Ref. 1; BAA91967). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(163-168)tct>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790198_12790200delGAG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.165_167delCTC	3.37:g.12790207_12790209delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435575.1_Intron	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	521_523	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.165_167delCTC	CCDS2613.1																																																																																				0.419	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		7	769						7	769	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83.0	94.0	90.0					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	821						7	821	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	CTG	-	rs61743912|rs370119073	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:167747642_167747644delCTG	ENST00000470487.1	-	10	2046_2048	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	453	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.64																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1357-1359)del		golgi integral membrane protein 4																																				SO:0001651	inframe_deletion	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747642_167747644delCTG	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1357_1359delCAG	3.37:g.167747651_167747653delCTG	ENSP00000417354:p.Gln453del					GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	p.Q453del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			10	2046_2048	-			453			Gln-rich.|Glu-rich.			In_Frame_Del	DEL	ENST00000470487.1	37	c.1357_1359delCAG	CCDS3204.1																																																																																				0.640	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			7	291						7	291	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389054	1389055	+	Frame_Shift_Ins	INS	-	-	CA	rs144861850		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:1389054_1389055insCA	ENST00000324803.4	+	1	3715_3716	c.755_756insCA	c.(754-759)ctcacgfs	p.LT252fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	252					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)		p.C254fs*176(1)		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)			GCCCGCCTGCTCACGTGCCGAT	0.693																																						ENST00000324803.4																			1	Insertion - Frameshift(1)	p.C254fs*176(1)	lung(1)	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.(754-756)cacfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	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.chr4:1389054_1389055insCA	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.756_757dupCA	4.37:g.1389055_1389056dupCA	ENSP00000323978:p.Leu252fs						p.H252fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3715_3716	+			252					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.755_756insCA	CCDS3349.1																																																																																				0.693	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		11	1265						11	1265	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		7	239						7	239	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153893619	153893619	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:153893619delA	ENST00000511601.1	+	11	1497	c.1309delA	c.(1309-1311)aaafs	p.K438fs	FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	438	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CTGTGAAGACAAAAAAACCAT	0.403																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1309-1311)aafs		FH2 domain containing 1							98.0	101.0	100.0					4																	153893619		2203	4300	6503	SO:0001589	frameshift_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153893619delA	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1309delA	4.37:g.153893619delA	ENSP00000427567:p.Lys438fs					FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs	p.K438fs			Q9C0D6	FHDC1_HUMAN			11	1497	+	all_hematologic(180;0.093)		438			FH2.			Frame_Shift_Del	DEL	ENST00000511601.1	37	c.1309delA	CCDS34081.1																																																																																				0.403	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		7	1882						7	1882	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	86					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(253-258)aaa>a		FSHD region gene 1				24,4216		0,24,2096						3.5	1.0		dbSNP_134	78	47,8181		0,47,4067	no	coding	FRG1	NM_004477.2		0,71,6163	A1A1,A1R,RR		0.5712,0.566,0.5695				71,12397				SO:0001651	inframe_deletion	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190873437_190873439delAAG	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.254_256delAAG	4.37:g.190873440_190873442delAAG	ENSP00000226798:p.Glu86del					FRG1_ENST00000514482.1_3'UTR	p.KE85del	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	3	476_478	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	85					A8K775	In_Frame_Del	DEL	ENST00000226798.4	37	c.254_256delAAG	CCDS34121.1																																																																																				0.414	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	569						7	569	---	---	---	---
CEP72	55722	broad.mit.edu	37	5	640649	640651	+	In_Frame_Del	DEL	AGC	AGC	-	rs141221365		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:640649_640651delAGC	ENST00000264935.5	+	9	1559_1561	c.1469_1471delAGC	c.(1468-1473)gagcag>gag	p.Q494del	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	494					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGCCTTGCTGAGCAGCAGCAGCA	0.621																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1468-1473)gag>g		centrosomal protein 72kDa				126,4140		62,2,2069						4.2	0.1		dbSNP_134	76	220,8034		107,6,4014	no	coding	CEP72	NM_018140.3		169,8,6083	A1A1,A1R,RR		2.6654,2.9536,2.7636				346,12174				SO:0001651	inframe_deletion	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:640649_640651delAGC	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1469_1471delAGC	5.37:g.640658_640660delAGC	ENSP00000264935:p.Gln494del					CEP72_ENST00000444221.1_3'UTR	p.EQ490del	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		9	1559_1561	+			490					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	In_Frame_Del	DEL	ENST00000264935.5	37	c.1469_1471delAGC	CCDS34126.1																																																																																				0.621	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		9	338						9	338	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-	rs61744453|rs75551718	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	626						7	626	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A	rs372292910		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(907-909)aaafs	p.K303fs	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366																																						ENST00000194152.1																			1	Deletion - Frameshift(1)	p.K305fs*12(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(904-909)ttaaaafs						6,4244		0,6,2119						3.5	0.7			99	16,8224		0,16,4104	no	frameshift	PCDHB4	NM_018938.2		0,22,6223	A1A1,A1R,RR		0.1942,0.1412,0.1761				22,12468				SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502486_140502487insA	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.915dupA	5.37:g.140502495_140502495dupA	ENSP00000194152:p.Lys303fs						p.LK302fs	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	906_907	+			302			Cadherin 3.		Q4V761	Frame_Shift_Ins	INS	ENST00000194152.1	37	c.906_907insA	CCDS4246.1																																																																																				0.366	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		10	659						10	659	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522379	32522380	+	RNA	INS	-	-	C	rs112115106		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:32522379_32522380insC	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGAAAATAGGATTGGGAGAGTA	0.475																																						ENST00000411500.1																			0																																																			0							g.chr6:32522379_32522380insC	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522379_32522380insC								NR_001298.1						0	740	-									RNA	INS	ENST00000411500.1	37																																																																																						0.475	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		7	65						7	65	---	---	---	---
HLA-DRB1	3123	broad.mit.edu	37	6	32549374	32549393	+	Frame_Shift_Del	DEL	CACTTGGCAGGTGTAAACCT	CACTTGGCAGGTGTAAACCT	-	rs140357311|rs34938122|rs16822972|rs17405325|rs36044702|rs2308777	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:32549374_32549393delCACTTGGCAGGTGTAAACCT	ENST00000360004.5	-	3	698_717	c.593_612delAGGTTTACACCTGCCAAGTG	c.(592-612)gaggtttacacctgccaagtgfs	p.EVYTCQV198fs		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	198	Beta-2.|Ig-like C1-type.				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						TTGGGTGCTCCACTTGGCAGGTGTAAACCTCTCCACTTCG	0.536										Multiple Myeloma(14;0.17)																												ENST00000360004.5																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						c.(592-612)gfs		major histocompatibility complex, class II, DR beta 1																																				SO:0001589	frameshift_variant	3123							g.chr6:32549374_32549393delCACTTGGCAGGTGTAAACCT	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.593_612delAGGTTTACACCTGCCAAGTG	6.37:g.32549374_32549393delCACTTGGCAGGTGTAAACCT	ENSP00000353099:p.Glu198fs	Multiple Myeloma(14;0.17)					p.EVYTCQV198fs	NM_002124.3	NP_002115.2					3	698_717	-								P01914|Q9MYF5	Frame_Shift_Del	DEL	ENST00000360004.5	37	c.593_612delAGGTTTACACCTGCCAAGTG	CCDS47409.1																																																																																				0.536	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		16	1283						16	1283	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:146350671_146350672insT	ENST00000282753.1	+	1	253_254	c.18_19insT	c.(19-21)tttfs	p.F7fs	GRM1_ENST00000492807.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000392299.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.F7fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	7					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)		GGCTCCTTTTGTTTTTTTTCCC	0.644																																						ENST00000392299.2																			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.(16-21)ttttttfs		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		,	13,4249		0,13,2118					,	5.4	0.9			109	6,8248		0,6,4121	no	frameshift,frameshift	GRM1	NM_001114329.1,NM_000838.3	,	0,19,6239	A1A1,A1R,RR		0.0727,0.305,0.1518	,	,		19,12497				SO:0001589	frameshift_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350671_146350672insT	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.26dupT	6.37:g.146350679_146350679dupT	ENSP00000282753:p.Phe7fs					GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs	p.FF6fs			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	488_489	+		Ovarian(120;0.0387)	6					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Ins	INS	ENST00000282753.1	37	c.18_19insT	CCDS5209.1																																																																																				0.644	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		11	1098						11	1098	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)tttfs	p.F269fs	BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(802-804)ttfs		Bardet-Biedl syndrome 9							211.0	205.0	207.0					7																	33312723		2203	4300	6503	SO:0001589	frameshift_variant	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33312723delT		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.802delT	7.37:g.33312723delT	ENSP00000242067:p.Phe269fs					BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs	p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		8	1323	+			269					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Frame_Shift_Del	DEL	ENST00000242067.6	37	c.802delT	CCDS43566.1																																																																																				0.393	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			7	682						7	682	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:100283635_100283637delTCC	ENST00000275732.5	-	9	2223_2225	c.1014_1016delGGA	c.(1012-1017)gaggaa>gaa	p.338_339EE>E	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	338	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCGGAAGGTTCCTCCTCCTCCT	0.675																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1012-1017)gaa>ga		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100283635_100283637delTCC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1014_1016delGGA	7.37:g.100283644_100283646delTCC	ENSP00000275732:p.Glu339del					GIGYF1_ENST00000471340.2_Intron	p.EE338del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			9	2223_2225	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		338			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.1014_1016delGGA	CCDS34708.1																																																																																				0.675	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	374						7	374	---	---	---	---
PBK	55872	broad.mit.edu	37	8	27690580	27690581	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:27690580_27690581insT	ENST00000301905.4	-	2	513_514	c.50_51insA	c.(49-51)aagfs	p.K17fs	PBK_ENST00000522944.1_Frame_Shift_Ins_p.K17fs	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	17					mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K17K(2)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TACCAGATTTCTTTTTTTCTGA	0.322																																						ENST00000301905.4																			2	Substitution - coding silent(2)	p.K17K(2)	lung(2)	endometrium(1)|large_intestine(2)|lung(1)	4						c.(49-51)aaafs		PDZ binding kinase																																				SO:0001589	frameshift_variant	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27690580_27690581insT	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.51dupA	8.37:g.27690587_27690587dupT	ENSP00000301905:p.Lys17fs					PBK_ENST00000522944.1_Frame_Shift_Ins_p.K17fs	p.K17fs	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	2	513_514	-		Ovarian(32;0.000953)	17					B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Frame_Shift_Ins	INS	ENST00000301905.4	37	c.50_51insA	CCDS6063.1																																																																																				0.322	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		22	86						22	86	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101076229	101076229	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:101076229delT	ENST00000360863.6	-	8	961	c.767delA	c.(766-768)aagfs	p.K256fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	256					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATGGGTCCTTTTTTGTCCT	0.328																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(766-768)agfs		regulator of G-protein signaling 22							132.0	137.0	136.0					8																	101076229		1803	4063	5866	SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101076229delT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.767delA	8.37:g.101076229delT	ENSP00000354109:p.Lys256fs					RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	p.K256fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	961	-			256					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Del	DEL	ENST00000360863.6	37	c.767delA	CCDS43758.1																																																																																				0.328	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		8	879						8	879	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	GAG	-	rs2272753|rs2272754	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:144522387_144522389delGAG	ENST00000262577.5	-	11	2668_2670	c.2637_2639delCTC	c.(2635-2640)tcctca>tca	p.879_880SS>S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2635-2640)tca>tc		zinc finger CCCH-type containing 3																																				SO:0001651	inframe_deletion	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144522387_144522389delGAG	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2637_2639delCTC	8.37:g.144522396_144522398delGAG	ENSP00000262577:p.Ser881del						p.SS879del	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		11	2668_2670	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		879			Poly-Ser.		Q14163|Q8N4E2|Q9BUS4	In_Frame_Del	DEL	ENST00000262577.5	37	c.2637_2639delCTC	CCDS6402.1																																																																																				0.655	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		7	94						7	94	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145006627	145006629	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:145006627_145006629delCCT	ENST00000322810.4	-	16	2496_2498	c.2327_2329delAGG	c.(2326-2331)gaggtg>gtg	p.E776del	PLEC_ENST00000345136.3_In_Frame_Del_p.E639del|PLEC_ENST00000354958.2_In_Frame_Del_p.E617del|PLEC_ENST00000354589.3_In_Frame_Del_p.E639del|PLEC_ENST00000527096.1_In_Frame_Del_p.E662del|PLEC_ENST00000357649.2_In_Frame_Del_p.E643del|PLEC_ENST00000436759.2_In_Frame_Del_p.E666del|PLEC_ENST00000356346.3_In_Frame_Del_p.E625del|PLEC_ENST00000398774.2_In_Frame_Del_p.E607del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	776	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGAAGCCCACCTCCTCCTCCTC	0.621																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(2326-2331)gtg>g		plectin																																				SO:0001651	inframe_deletion	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145006627_145006629delCCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2327_2329delAGG	8.37:g.145006636_145006638delCCT	ENSP00000323856:p.Glu776del					PLEC_ENST00000357649.2_In_Frame_Del_p.EV643del|PLEC_ENST00000436759.2_In_Frame_Del_p.EV666del|PLEC_ENST00000354958.2_In_Frame_Del_p.EV617del|PLEC_ENST00000398774.2_In_Frame_Del_p.EV607del|PLEC_ENST00000356346.3_In_Frame_Del_p.EV625del|PLEC_ENST00000354589.3_In_Frame_Del_p.EV639del|PLEC_ENST00000345136.3_In_Frame_Del_p.EV639del|PLEC_ENST00000527096.1_In_Frame_Del_p.EV662del	p.EV776del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			16	2496_2498	-			776			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	In_Frame_Del	DEL	ENST00000322810.4	37	c.2327_2329delAGG	CCDS43772.1																																																																																				0.621	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	623						7	623	---	---	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					ENST00000308860.6																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA							p.L419_splice	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1301_1311	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		419			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	In_Frame_Del	8	15						8	15	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091693	35091693	+	Frame_Shift_Del	DEL	G	G	-	rs148341577		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:35091693delG	ENST00000378617.3	-	7	2585	c.2191delC	c.(2191-2193)cgtfs	p.R731fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Del_p.R731fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	731					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.R731fs*17(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)			ACCCGGAGACGGGGGGGAGCC	0.662																																						ENST00000378617.3																			1	Deletion - Frameshift(1)	p.R731fs*17(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2191-2193)gtfs		phosphatidylinositol glycan anchor biosynthesis, class O			,,	5,4057		0,5,2026	25.0	29.0	28.0		,,	5.4	1.0	9		28	12,7918		0,12,3953	no	intron,frameshift,intron	PIGO	NM_152850.3,NM_032634.3,NM_001201484.1	,,	0,17,5979	A1A1,A1R,RR		0.1513,0.1231,0.1418	,,	,,	35091693	17,11975	2145	4204	6349	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.chr9:35091693delG	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.2191delC	9.37:g.35091693delG	ENSP00000367880:p.Arg731fs					PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Del_p.R731fs	p.R731fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2585	-			731					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Del	DEL	ENST00000378617.3	37	c.2191delC	CCDS6575.1																																																																																				0.662	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		7	683						7	683	---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	CCT	-	rs4253047	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:50732139_50732141delCCT	ENST00000355832.5	-	5	1413_1415	c.1335_1337delAGG	c.(1333-1338)ggaggt>ggt	p.445_446GG>G	PGBD3_ENST00000603152.1_In_Frame_Del_p.445_446GG>G|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.445_446GG>G|ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.445_446GG>G|PGBD3_ENST00000374127.3_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	445	Gly-rich.		G -> D (in dbSNP:rs4253047). {ECO:0000269|Ref.3}.		activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1333-1338)ggt>gg	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6																																				SO:0001651	inframe_deletion	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50732139_50732141delCCT	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1335_1337delAGG	10.37:g.50732148_50732150delCCT	ENSP00000348089:p.Gly446del					ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del	p.GG445del	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			5	1413_1415	-			445			Gly-rich.		D3DX94|Q5W0L9	In_Frame_Del	DEL	ENST00000355832.5	37	c.1335_1337delAGG	CCDS7229.1																																																																																				0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		8	690						8	690	---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70179623	70179623	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:70179623delT	ENST00000358410.3	-	18	2774	c.2724delA	c.(2722-2724)aaafs	p.K908fs	DNA2_ENST00000399179.2_Frame_Shift_Del_p.K670fs|DNA2_ENST00000399180.2_Frame_Shift_Del_p.K994fs	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	908	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCACACCACCTTTTTCAACTT	0.358																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2980-2982)aafs		DNA replication helicase/nuclease 2							125.0	126.0	125.0					10																	70179623		1825	4077	5902	SO:0001589	frameshift_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70179623delT	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2724delA	10.37:g.70179623delT	ENSP00000351185:p.Lys908fs					DNA2_ENST00000358410.3_Frame_Shift_Del_p.K908fs|DNA2_ENST00000399179.2_Frame_Shift_Del_p.K670fs	p.K994fs			P51530	DNA2L_HUMAN			18	2981	-			908					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Frame_Shift_Del	DEL	ENST00000358410.3	37	c.2982delA																																																																																					0.358	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			7	520						7	520	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-	rs147413396		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(961-963)gfs		cell division cycle and apoptosis regulator 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509285_70509286delGA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.961_962delGA	10.37:g.70509295_70509296delGA	ENSP00000265872:p.Glu321fs					CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	p.E321fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			10	1080_1081	+			321			Arg-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Del	DEL	ENST00000265872.6	37	c.961_962delGA	CCDS7282.1																																																																																				0.391	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		8	158						8	158	---	---	---	---
POLL	27343	broad.mit.edu	37	10	103345131	103345133	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:103345131_103345133delGGA	ENST00000370162.3	-	4	1007_1009	c.513_515delTCC	c.(511-516)cctccc>ccc	p.171_172PP>P	DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.171_172PP>P|POLL_ENST00000436284.2_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000339310.3_Intron|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000370172.1_In_Frame_Del_p.83_84PP>P|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000299206.4_In_Frame_Del_p.171_172PP>P|DPCD_ENST00000370151.4_5'Flank|POLL_ENST00000370158.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	171					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCCTGGTGGGAGGAGGAGGAG	0.591								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(511-516)ccc>cc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda			,,	22,4242		11,0,2121					,,	-0.9	0.0			149	45,8209		19,7,4101	no	coding,coding,coding	POLL	NM_013274.3,NM_001174085.1,NM_001174084.1	,,	30,7,6222	A1A1,A1R,RR		0.5452,0.5159,0.5352	,,	,,		67,12451				SO:0001651	inframe_deletion	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103345131_103345133delGGA	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.513_515delTCC	10.37:g.103345140_103345142delGGA	ENSP00000359181:p.Pro172del					DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|DPCD_ENST00000416979.2_Intron	p.PP171del	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	4	1007_1009	-		Colorectal(252;0.234)	171					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	In_Frame_Del	DEL	ENST00000370162.3	37	c.513_515delTCC	CCDS7513.1																																																																																				0.591	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		10	434						10	434	---	---	---	---
MRPL49	740	broad.mit.edu	37	11	64888248	64888250	+	5'Flank	DEL	TCT	TCT	-	rs1065065		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:64888248_64888250delTCT	ENST00000279242.2	+	0	0				FAU_ENST00000279259.3_In_Frame_Del_p.E83del|FAU_ENST00000525297.1_In_Frame_Del_p.K67del|FAU_ENST00000529639.1_In_Frame_Del_p.K102del|FAU_ENST00000531743.1_In_Frame_Del_p.K102del|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.K102del|MRPL49_ENST00000534078.1_5'Flank|MRPL49_ENST00000526171.1_5'Flank	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GCCCGACCTGTCTTCTTCTTCTT	0.542																																						ENST00000529639.1																			0				NS(3)|kidney(1)|large_intestine(2)	6						c.(304-309)aca>a		Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed																																				SO:0001631	upstream_gene_variant	2197							g.chr11:64888248_64888250delTCT		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64888257_64888259delTCT	Exception_encountered					FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del	p.KT102del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN			5	696_698	-			0					B2R4G6	In_Frame_Del	DEL	ENST00000279242.2	37	c.305_307delAGA	CCDS8096.1																																																																																				0.542	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927		8	698						8	698	---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)gaafs	p.E223fs	CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.E239fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> V (in dbSNP:rs35817404). {ECO:0000269|PubMed:17344846}.		cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes																														ENST00000534070.1																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(667-669)aaafs	Other conserved DNA damage response genes	checkpoint kinase 1																																				SO:0001589	frameshift_variant	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125505377_125505378insA	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.676dupA	11.37:g.125505386_125505386dupA	ENSP00000435371:p.Glu223fs					CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs	p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	7	922_923	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	223		E -> V (in dbSNP:rs35817404).	Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Frame_Shift_Ins	INS	ENST00000534070.1	37	c.667_668insA	CCDS8459.1																																																																																				0.361	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		16	581						16	581	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:6711207_6711209delCTT	ENST00000357008.2	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000309577.6_In_Frame_Del_p.K119del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Deletion - In frame(3)	p.K119delK(3)	central_nervous_system(3)	central_nervous_system(2)	2						c.(355-357)del		chromodomain helicase DNA binding protein 4				115,4123		4,107,2008						4.7	1.0			29	227,7995		2,223,3886	no	coding	CHD4	NM_001273.2		6,330,5894	A1A1,A1R,RR		2.7609,2.7135,2.7448				342,12118				SO:0001651	inframe_deletion	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711207_6711209delCTT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.355_357delAAG	12.37:g.6711216_6711218delCTT	ENSP00000349508:p.Lys119del					CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del	p.K119del			Q14839	CHD4_HUMAN			4	518_520	-			119			Poly-Lys.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.355_357delAAG	CCDS8552.1																																																																																				0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		8	246						8	246	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2422-2424)del		cut-like homeobox 2				26,3520		1,24,1748						0.6	1.0			21	65,7379		5,55,3662	no	coding	CUX2	NM_015267.3		6,79,5410	A1A1,A1R,RR		0.8732,0.7332,0.828				91,10899				SO:0001651	inframe_deletion	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758235_111758237delTCC	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2422_2424delTCC	12.37:g.111758244_111758246delTCC	ENSP00000261726:p.Ser813del						p.S813del	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2576_2578	+			813			Poly-Ser.		A7E2Y4	In_Frame_Del	DEL	ENST00000261726.6	37	c.2422_2424delTCC	CCDS41837.1																																																																																				0.749	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		9	363						9	363	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		9	285						9	285	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25525716	25525716	+	RNA	DEL	A	A	-	rs200495212	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:25525716delA	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		TGGAAGAAACAAAAAAAAGAA	0.383													AAAAAAA|AAAAAAAA|AAAAAAA|insertion	774	0.154553	0.1256	0.1571	5008	,	,		14949	0.2123		0.162	False		,,,				2504	0.1247					ENST00000429698.1																			0																																																			0							g.chr13:25525716delA			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25525716delA														0	282	-								B3KST4|B4DMH9	RNA	DEL	ENST00000429698.1	37																																																																																						0.383	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			7	8						7	8	---	---	---	---
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845|rs11278664|rs3841049	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cagcctcca>cca	p.QP233del	ZNF219_ENST00000451119.2_In_Frame_Del_p.QP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QP233del|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 4; AAH00694). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1230	0.245607	0.2549	0.3775	5008	,	,		14407	0.125		0.1879	False		,,,				2504	0.3231					ENST00000360947.3																			3	Deletion - In frame(3)	p.Q233_P234delQP(3)	large_intestine(1)|prostate(1)|breast(1)	breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(697-705)cca>c		zinc finger protein 219			,,	821,2789		238,345,1222					,,	2.7	1.0		dbSNP_107	4	1173,6075		279,615,2730	no	coding,coding,coding	ZNF219	NM_016423.2,NM_001102454.1,NM_001101672.1	,,	517,960,3952	A1A1,A1R,RR		16.1838,22.7424,18.3643	,,	,,		1994,8864				SO:0001651	inframe_deletion	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21560753_21560758delGAGGCT	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.698_703delAGCCTC	14.37:g.21560759_21560764delGAGGCT	ENSP00000354206:p.Gln233_Pro234del		OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del	p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	1109_1114	-	all_cancers(95;0.00185)		233	Missing (in Ref. 3; AAH00694).				D3DS16|Q53Y57|Q8IYC1|Q9BW28	In_Frame_Del	DEL	ENST00000360947.3	37	c.698_703delAGCCTC	CCDS9568.1																																																																																				0.743	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			4	8						4	8	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21884031	21884031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:21884031delT	ENST00000557364.1	-	6	2015	c.1752delA	c.(1750-1752)aaafs	p.K584fs	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs|CHD8_ENST00000399982.2_Frame_Shift_Del_p.K584fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	584					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTGTATATTTTTTTCGCT	0.398																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1750-1752)aafs		chromodomain helicase DNA binding protein 8							202.0	190.0	194.0					14																	21884031		1845	4090	5935	SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21884031delT	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1752delA	14.37:g.21884031delT	ENSP00000451601:p.Lys584fs					CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs	p.K584fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	5	1816	-	all_cancers(95;0.00121)		584					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	ENST00000557364.1	37	c.1752delA	CCDS53885.1																																																																																				0.398	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		7	668						7	668	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)gaafs	p.E1294fs	ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|CDH24_ENST00000397359.3_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_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs	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		11	359						11	359	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S|FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		8	227						8	227	---	---	---	---
TNFAIP2	7127	broad.mit.edu	37	14	103599784	103599786	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:103599784_103599786delAGC	ENST00000560869.1	+	10	2270_2272	c.1631_1633delAGC	c.(1630-1635)gagcag>gag	p.Q548del	TNFAIP2_ENST00000538222.1_In_Frame_Del_p.Q31del|TNFAIP2_ENST00000333007.1_In_Frame_Del_p.Q548del|TNFAIP2_ENST00000451723.2_In_Frame_Del_p.Q217del			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	548					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AAGACGGCCGAGCAGCAGCAGCA	0.626																																						ENST00000560869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1630-1635)gag>g		tumor necrosis factor, alpha-induced protein 2																																				SO:0001651	inframe_deletion	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103599784_103599786delAGC		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1631_1633delAGC	14.37:g.103599793_103599795delAGC	ENSP00000452634:p.Gln548del					TNFAIP2_ENST00000333007.1_In_Frame_Del_p.EQ544del|TNFAIP2_ENST00000451723.2_In_Frame_Del_p.EQ213del|TNFAIP2_ENST00000538222.1_In_Frame_Del_p.EQ27del	p.EQ544del			Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		10	2270_2272	+		Melanoma(154;0.155)	544					Q86VI0	In_Frame_Del	DEL	ENST00000560869.1	37	c.1631_1633delAGC	CCDS9979.1																																																																																				0.626	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		10	385						10	385	---	---	---	---
IGHV3-23	28442	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	-	G	rs376179032		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:106725714_106725715insG	ENST00000390609.2	-	0	18_19									immunoglobulin heavy variable 3-23																		ATCCCAGGGCTGGGCTCCTCTC	0.5																																						ENST00000390609.2																			0																																																			0							g.chr14:106725714_106725715insG	M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725717_106725717dupG														0	18_19	-									RNA	INS	ENST00000390609.2	37																																																																																						0.500	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325188.1	NG_001019		9	358						9	358	---	---	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:40282508delT	ENST00000263791.5	+	16	2604	c.2561delT	c.(2560-2562)attfs	p.I854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(2560-2562)atfs		eukaryotic translation initiation factor 2 alpha kinase 4							233.0	220.0	224.0					15																	40282508		1840	4082	5922	SO:0001589	frameshift_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40282508delT	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2561delT	15.37:g.40282508delT	ENSP00000263791:p.Ile854fs					EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	p.I854fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	16	2604	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	854			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Frame_Shift_Del	DEL	ENST00000263791.5	37	c.2561delT	CCDS42016.1																																																																																				0.358	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			7	1048						7	1048	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-	rs371085676|rs377432895	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		7	306						7	306	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	39						7	39	---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19058506	19058506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:19058506delT	ENST00000304381.5	+	12	1805	c.1675delT	c.(1675-1677)tttfs	p.F560fs	TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs|TMC7_ENST00000421369.3_Frame_Shift_Del_p.F450fs	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	560					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATCGGAGCCTTTTTCTCACC	0.502																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1345-1347)ttfs		transmembrane channel-like 7							294.0	304.0	300.0					16																	19058506		2197	4300	6497	SO:0001589	frameshift_variant	79905					integral to membrane		g.chr16:19058506delT	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1675delT	16.37:g.19058506delT	ENSP00000304710:p.Phe560fs					TMC7_ENST00000304381.5_Frame_Shift_Del_p.F560fs|TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs	p.F450fs	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			12	1903	+			560					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Frame_Shift_Del	DEL	ENST00000304381.5	37	c.1345delT	CCDS10573.1																																																																																				0.502	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		9	1688						9	1688	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2107-2109)del		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300017_67300019delGAG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2107_2109delGAG	16.37:g.67300026_67300028delGAG	ENSP00000299798:p.Glu708del						p.E708del	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2172_2174	+		Ovarian(137;0.0563)	708					A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.2107_2109delGAG	CCDS42178.1																																																																																				0.571	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			13	274						13	274	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74378976	74378976	+	RNA	DEL	T	T	-	rs35591542		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:74378976delT	ENST00000429810.2	-	0	1086																											ACCTCTTGAAttttttttttt	0.418																																						ENST00000429810.2																			0																																																			0							g.chr16:74378976delT																													16.37:g.74378976delT														0	1086	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.418	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	8						4	8	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-	rs397516438		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:7579716delG	ENST00000269305.4	-	3	269	c.80delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	27	Interaction with HRMT1L2.|Transcription activation (acidic).				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTGTTTTCAGGAAGTCTGAA	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		15	Whole gene deletion(8)|Deletion - Frameshift(7)	p.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(1)	large_intestine(5)|bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(79-81)ctfs	Other conserved DNA damage response genes	tumor protein p53							42.0	42.0	42.0					17																	7579716		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579716delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.80delC	17.37:g.7579716delG	ENSP00000269305:p.Pro27fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs	p.P27fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	212	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	27			Interaction with HRMT1L2.|Transcription activation (acidic).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.80delC	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		50	226						50	226	---	---	---	---
CSF3	1440	broad.mit.edu	37	17	38172769	38172769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:38172769delT	ENST00000225474.2	+	4	375	c.344delT	c.(343-345)cttfs	p.L115fs	CSF3_ENST00000394148.3_Frame_Shift_Del_p.L79fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.L112fs|CSF3_ENST00000331769.2_Frame_Shift_Del_p.L108fs|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000577675.1_Frame_Shift_Del_p.L72fs			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	115					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				CATAGCGGCCTTTTCCTCTAC	0.627																																						ENST00000331769.2																			0				endometrium(1)|ovary(1)|prostate(1)	3						c.(322-324)ctfs		colony stimulating factor 3 (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						97.0	107.0	104.0					17																	38172769		2203	4300	6503	SO:0001589	frameshift_variant	1440				cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	g.chr17:38172769delT		CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"""Endogenous ligands"""	2438	protein-coding gene	gene with protein product	"""granulocyte colony stimulating factor"", ""pluripoietin"", ""filgrastim"", ""lenograstim"""	138970	"""chromosome 17 open reading frame 33"""	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.344delT	17.37:g.38172769delT	ENSP00000225474:p.Leu115fs					CSF3_ENST00000225474.2_Frame_Shift_Del_p.L115fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.L112fs|CSF3_ENST00000577675.1_Frame_Shift_Del_p.L72fs|CSF3_ENST00000394148.3_Frame_Shift_Del_p.L79fs	p.L108fs			P09919	CSF3_HUMAN			3	539	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	115					A8MXR7	Frame_Shift_Del	DEL	ENST00000225474.2	37	c.323delT	CCDS11357.1																																																																																				0.627	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2	NM_172220		8	1059						8	1059	---	---	---	---
TOB1	10140	broad.mit.edu	37	17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:48940610_48940612delGTG	ENST00000268957.3	-	3	1195_1197	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_ENST00000509385.1_5'Flank|TOB1_ENST00000499247.2_In_Frame_Del_p.P256del	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(766-771)cag>c		transducer of ERBB2, 1																																				SO:0001651	inframe_deletion	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940610_48940612delGTG	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.767_769delCAC	17.37:g.48940619_48940621delGTG	ENSP00000268957:p.Pro256del					TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1200_1202	-			256			Poly-Pro.		B2R9T0|D3DTY3|Q4KMQ0	In_Frame_Del	DEL	ENST00000268957.3	37	c.767_769delCAC	CCDS11576.1																																																																																				0.517	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			8	353						8	353	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61899155	61899157	+	IGR	DEL	CTC	CTC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:61899155_61899157delCTC	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_In_Frame_Del_p.E508del	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GCAGTGGATTCTCCTCCTCCTCC	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1522-1524)del		FtsJ homolog 3 (E. coli)				1,4263		0,1,2131						5.2	1.0			197	2,8252		0,2,4125	no	coding	FTSJ3	NM_017647.3		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61899155_61899157delCTC	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899164_61899166delCTC							p.E508del	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			15	2167_2169	-			508					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	In_Frame_Del	DEL	ENST00000578681.1	37	c.1522_1524delGAG	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		8	731						8	731	---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	GTG	-	rs3833850		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:77808241_77808243delGTG	ENST00000269397.4	-	5	1375_1377	c.1198_1200delCAC	c.(1198-1200)cacdel	p.H400del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.|Poly-His.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704																																						ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(1198-1200)del		chromobox homolog 4																																				SO:0001651	inframe_deletion	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808241_77808243delGTG	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1198_1200delCAC	17.37:g.77808250_77808252delGTG	ENSP00000269397:p.His400del						p.H400del	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1375_1377	-			400			His-rich.|Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	In_Frame_Del	DEL	ENST00000269397.4	37	c.1198_1200delCAC	CCDS32758.1																																																																																				0.704	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		8	101						8	101	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			8	141						8	141	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs|HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1024-1029)tcgtfs		HAUS augmin-like complex, subunit 8																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs	p.SR342fs			Q9BT25	HAUS8_HUMAN			10	3044_3045	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1026_1027delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		8	1040						8	1040	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.700	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			9	739						9	739	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-	rs200386201		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000414393.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000439498.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.510	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			10	366						10	366	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C	rs570895195		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:57766219_57766220insC	ENST00000371030.2	+	1	145_146	c.145_146insC	c.(145-147)gccfs	p.A49fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728																																						ENST00000371030.2																			1	Insertion - Frameshift(1)	p.T52fs*47(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(145-147)cccfs		zinc finger protein 831				44,3536		1,42,1747						2.3	0.9			18	50,7732		0,50,3841	no	frameshift	ZNF831	NM_178457.1		1,92,5588	A1A1,A1R,RR		0.6425,1.2291,0.8273				94,11268				SO:0001589	frameshift_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766219_57766220insC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.153dupC	20.37:g.57766227_57766227dupC	ENSP00000360069:p.Ala49fs						p.P49fs	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	145_146	+	all_lung(29;0.0085)		49			Pro-rich.		Q5TDR4|Q8TCP0	Frame_Shift_Ins	INS	ENST00000371030.2	37	c.145_146insC	CCDS42894.1																																																																																				0.728	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		7	255						7	255	---	---	---	---
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-	rs375419913		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226.0	232.0	230.0					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			10	1210						10	1210	---	---	---	---
PICK1	9463	broad.mit.edu	37	22	38471034	38471036	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:38471034_38471036delGGA	ENST00000404072.3	+	13	1490_1492	c.1143_1145delGGA	c.(1141-1146)ggggag>ggg	p.E388del	PICK1_ENST00000356976.3_In_Frame_Del_p.E388del|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	388	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TCACAGATGGggaggaggaggag	0.635																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1141-1146)ggg>gg		protein interacting with PRKCA 1																																				SO:0001651	inframe_deletion	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38471034_38471036delGGA	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.1143_1145delGGA	22.37:g.38471043_38471045delGGA	ENSP00000385205:p.Glu388del					PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del	p.GE381del	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			13	1490_1492	+	Melanoma(58;0.045)		381					B3KS52|O95906	In_Frame_Del	DEL	ENST00000404072.3	37	c.1143_1145delGGA	CCDS13965.1																																																																																				0.635	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		9	209						9	209	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	278						7	278	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		7	290						7	290	---	---	---	---
