#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
KCNN2	3781	broad.mit.edu	37	5	113699700	113699700	+	Splice_Site	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:113699700T>C	ENST00000512097.3	+	3	1600		c.e3+2		KCNN2_ENST00000264773.3_Splice_Site|KCNN2_ENST00000507750.1_Splice_Site			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GAAATACAGGTAACTTAGGTC	0.493																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.e3+2		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							174.0	147.0	156.0					5																	113699700		2202	4300	6502	SO:0001630	splice_region_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113699700T>C	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.582+2T>C	5.37:g.113699700T>C						KCNN2_ENST00000264773.3_Splice_Site|KCNN2_ENST00000507750.1_Splice_Site				Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	3	1600	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)						A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Splice_Site	SNP	ENST00000512097.3	37		CCDS4114.1	.	.	.	.	.	.	.	.	.	.	T	31	5.090072	0.94149	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8893	0.79279	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNN2	113727599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.522000	0.81844	2.243000	0.73865	0.533000	0.62120	.		0.493	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614	Intron	136	202	0	0	0	1	0	136	202				
SLC38A1	81539	broad.mit.edu	37	12	46599923	46599923	+	Missense_Mutation	SNP	C	C	T	rs369346779		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:46599923C>T	ENST00000398637.5	-	9	1280	c.586G>A	c.(586-588)Gtt>Att	p.V196I	SLC38A1_ENST00000549049.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000439706.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000546893.1_Missense_Mutation_p.V196I	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	196					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACCACCAGAACGCGGCCATCC	0.393																																						ENST00000398637.5																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(586-588)Gtt>Att		solute carrier family 38, member 1		C	ILE/VAL,ILE/VAL	0,3836		0,0,1918	87.0	90.0	89.0		586,586	-5.6	0.0	12		89	1,8287		0,1,4143	no	missense,missense	SLC38A1	NM_001077484.1,NM_030674.3	29,29	0,1,6061	TT,TC,CC		0.0121,0.0,0.0082	benign,benign	196/488,196/488	46599923	1,12123	1918	4144	6062	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46599923C>T	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.586G>A	12.37:g.46599923C>T	ENSP00000381634:p.Val196Ile					SLC38A1_ENST00000552197.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000549049.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000546893.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.V196I	p.V196I	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		9	1280	-	Lung SC(27;0.137)|Renal(347;0.236)		196					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.586G>A	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100901	0.20552	0.0	1.21E-4	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26	5.7	-5.61	0.02489	.	0.669277	0.13946	N	0.351847	T	0.00815	0.0027	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.12630	0.006;0.003;0.0	B;B;B	0.13407	0.009;0.005;0.003	T	0.44050	-0.9353	10	0.29301	T	0.29	-0.7853	2.2946	0.04147	0.2037:0.2101:0.3999:0.1863	.	196;196;196	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	I	196	ENSP00000449607:V196I;ENSP00000398142:V196I;ENSP00000381634:V196I;ENSP00000447853:V196I;ENSP00000449756:V196I	ENSP00000381634:V196I	V	-	1	0	SLC38A1	44886190	0.000000	0.05858	0.001000	0.08648	0.650000	0.38633	-0.721000	0.04963	-0.512000	0.06505	-0.463000	0.05309	GTT		0.393	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			5	165	0	0	0	1	0	5	165				
CLEC4F	165530	broad.mit.edu	37	2	71043807	71043807	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:71043807C>T	ENST00000272367.2	-	4	782	c.706G>A	c.(706-708)Gca>Aca	p.A236T	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A236T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	236					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGGTATTTGCCGTTTCCAAA	0.423																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(706-708)Gca>Aca		C-type lectin domain family 4, member F							76.0	74.0	74.0					2																	71043807		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043807C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.706G>A	2.37:g.71043807C>T	ENSP00000272367:p.Ala236Thr					CLEC4F_ENST00000426626.1_Missense_Mutation_p.A236T	p.A236T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	782	-			236					A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.706G>A	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274653	0.23307	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.52526	0.66;0.66	3.4	1.51	0.23008	.	0.248657	0.20973	N	0.082344	T	0.37128	0.0992	L	0.56769	1.78	0.09310	N	1	B;B	0.27997	0.197;0.197	B;B	0.25759	0.063;0.063	T	0.31613	-0.9937	10	0.54805	T	0.06	.	4.0505	0.09793	0.2302:0.6437:0.0:0.126	.	236;236	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	T	236	ENSP00000272367:A236T;ENSP00000390581:A236T	ENSP00000272367:A236T	A	-	1	0	CLEC4F	70897315	0.001000	0.12720	0.001000	0.08648	0.040000	0.13550	1.046000	0.30354	0.403000	0.25479	0.313000	0.20887	GCA		0.423	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		5	470	0	0	0	1	0	5	470				
CCNB3	85417	broad.mit.edu	37	X	50054262	50054262	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:50054262G>A	ENST00000376042.1	+	6	3391	c.3093G>A	c.(3091-3093)ttG>ttA	p.L1031L	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.L1031L			Q8WWL7	CCNB3_HUMAN	cyclin B3	1031					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGCCATTGGCCTTACAAG	0.478																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3091-3093)ttG>ttA		cyclin B3							107.0	93.0	98.0					X																	50054262		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054262G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3093G>A	X.37:g.50054262G>A						CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L1031L	p.L1031L			Q8WWL7	CCNB3_HUMAN			6	3391	+	Ovarian(276;0.236)		1031					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.3093G>A	CCDS14331.1																																																																																				0.478	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			7	639	0	0	0	1	0	7	639				
FCGBP	8857	broad.mit.edu	37	19	40362824	40362824	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:40362824C>T	ENST00000221347.6	-	32	15253	c.15246G>A	c.(15244-15246)gcG>gcA	p.A5082A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5082						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACCCTTTTGCGCGCACAGGT	0.667																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15244-15246)gcG>gcA		Fc fragment of IgG binding protein							98.0	99.0	99.0					19																	40362824		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40362824C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15246G>A	19.37:g.40362824C>T							p.A5082A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15253	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5082					O95784	Silent	SNP	ENST00000221347.6	37	c.15246G>A	CCDS12546.1																																																																																				0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	558	0	0	0	1	0	5	558				
DRD5	1816	broad.mit.edu	37	4	9783962	9783962	+	Silent	SNP	G	G	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					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)	p.V103V(1)		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)	TCGCCGAGGTGGCCGGTTACT	0.612																																						ENST00000304374.2																			1	Substitution - coding silent(1)	p.V103V(1)	kidney(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(307-309)gtG>gtT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						51.0	49.0	49.0					4																	9783962		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:9783962G>T	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.309G>T	4.37:g.9783962G>T							p.V103V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	705	+			103					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.309G>T	CCDS3405.1																																																																																				0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			10	227	1	0	1.33834e-09	1	1.41536e-09	10	227				
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35.0	36.0	36.0		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			5	153	0	0	0	1	0	5	153				
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G	rs559230605	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84.0	93.0	90.0					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice|TMEM216_ENST00000398979.3_5'UTR	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	24	220	0	0	0	1	0	24	220				
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:164038C>G	ENST00000356521.4	-	5	519		c.e5-1		CBWD1_ENST00000377447.3_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding (GO:0005524)	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284																																						ENST00000377447.3																			2	Unknown(2)	p.?(2)	lung(2)	kidney(1)|lung(2)|ovary(1)|skin(1)	5						c.e5-1		COBW domain containing 1							44.0	70.0	61.0					9																	164038		1423	2635	4058	SO:0001630	splice_region_variant	55871						ATP binding|protein binding	g.chr9:164038C>G	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.431-1G>C	9.37:g.164038C>G						CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site				Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	5	486	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)						A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Splice_Site	SNP	ENST00000356521.4	37		CCDS6438.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304448	0.60305	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6706	0.77270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD1	154038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.833000	0.75334	2.049000	0.60858	0.549000	0.68633	.		0.284	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491	Intron	8	610	0	0	0	1	0	8	610				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	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			7	204	0	0	0	1	0	7	204				
FAM86HP	729375	broad.mit.edu	37	3	129821632	129821632	+	RNA	SNP	C	C	T	rs115468595	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:129821632C>T	ENST00000500074.2	-	0	513									family with sequence similarity 86, member H, pseudogene																		ACACCTGGCACGTCTCTGGGT	0.662													c|||	89	0.0177716	0.0091	0.0173	5008	,	,		15792	0.0069		0.0318	False		,,,				2504	0.0266					ENST00000500074.2																			0																																																			0							g.chr3:129821632C>T			3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129821632C>T														0	513	-									RNA	SNP	ENST00000500074.2	37																																																																																						0.662	FAM86HP-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000358348.1			7	489	0	0	0	1	0	7	489				
LRP4	4038	broad.mit.edu	37	11	46894718	46894718	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:46894718G>A	ENST00000378623.1	-	30	4758	c.4516C>T	c.(4516-4518)Cgg>Tgg	p.R1506W	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1506					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGGACCTTCCGCTCAGAACCA	0.537																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(4516-4518)Cgg>Tgg		low density lipoprotein receptor-related protein 4							123.0	109.0	114.0					11																	46894718		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46894718G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4516C>T	11.37:g.46894718G>A	ENSP00000367888:p.Arg1506Trp					LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.R1506W	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	30	4758	-			1506					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4516C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571882	0.86542	.	.	ENSG00000134569	ENST00000378623	D	0.97665	-4.48	5.91	2.57	0.30868	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99809	1.1040	10	0.87932	D	0	.	15.2244	0.73339	0.0:0.0:0.5292:0.4708	.	1506	O75096	LRP4_HUMAN	W	1506	ENSP00000367888:R1506W	ENSP00000367888:R1506W	R	-	1	2	LRP4	46851294	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.156000	0.42310	0.593000	0.29745	0.655000	0.94253	CGG		0.537	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		126	250	0	0	0	1	0	126	250				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	587	0	0	0	1	0	5	587				
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C	rs376234691		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000565224.1_Missense_Mutation_p.H520R|SMG1_ENST00000389467.3_Missense_Mutation_p.H546R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R. {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333																																						ENST00000446231.2																			3	Substitution - Missense(3)	p.H542R(2)|p.H546R(1)	kidney(2)|skin(1)	NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(1636-1638)cAt>cGt		SMG1 phosphatidylinositol 3-kinase-related kinase							16.0	14.0	14.0					16																	18887699		1793	4006	5799	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18887699T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1637A>G	16.37:g.18887699T>C	ENSP00000402515:p.His546Arg					SMG1_ENST00000565224.1_Missense_Mutation_p.H520R|SMG1_ENST00000389467.3_Missense_Mutation_p.H546R	p.H546R			Q96Q15	SMG1_HUMAN			13	2049	-			546		H -> R.	Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.1637A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550408	0.45383	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.64402	U	0.000003	T	0.01124	0.0037	N	0.24115	0.695	0.38158	D	0.938958	B	0.26445	0.149	B	0.24541	0.054	T	0.66618	-0.5878	10	0.25106	T	0.35	.	11.8709	0.52519	0.1306:0.0:0.0:0.8694	.	546	Q96Q15	SMG1_HUMAN	R	546	ENSP00000402515:H546R;ENSP00000374118:H546R	ENSP00000374118:H546R	H	-	2	0	SMG1	18795200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.089000	0.57685	2.073000	0.62155	0.402000	0.26972	CAT		0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		5	89	0	0	0	1	0	5	89				
NEO1	4756	broad.mit.edu	37	15	73528770	73528770	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:73528770G>A	ENST00000339362.5	+	9	1821	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Silent_p.T458T|NEO1_ENST00000261908.6_Silent_p.T458T|NEO1_ENST00000560262.1_Silent_p.T458T			Q92859	NEO1_HUMAN	neogenin 1	458	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T458T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCAAATTGACGTGGCGGACAC	0.557																																						ENST00000339362.5																			1	Substitution - coding silent(1)	p.T458T(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1372-1374)acG>acA		neogenin 1							218.0	166.0	184.0					15																	73528770		2198	4297	6495	SO:0001819	synonymous_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73528770G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1374G>A	15.37:g.73528770G>A						NEO1_ENST00000558964.1_Silent_p.T458T|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Silent_p.T458T|NEO1_ENST00000560262.1_Silent_p.T458T	p.T458T			Q92859	NEO1_HUMAN			9	1821	+			458			Fibronectin type-III 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	c.1374G>A	CCDS10247.1																																																																																				0.557	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		200	311	0	0	0	1	0	200	311				
MCF2	4168	broad.mit.edu	37	X	138701810	138701810	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:138701810G>C	ENST00000370576.4	-	7	952	c.743C>G	c.(742-744)aCa>aGa	p.T248R	MCF2_ENST00000338585.6_Missense_Mutation_p.T248R|MCF2_ENST00000414978.1_Missense_Mutation_p.T308R|MCF2_ENST00000519895.1_Missense_Mutation_p.T308R|MCF2_ENST00000370573.4_Missense_Mutation_p.T248R|MCF2_ENST00000520602.1_Missense_Mutation_p.T308R|MCF2_ENST00000370578.4_Missense_Mutation_p.T393R|MCF2_ENST00000536274.1_Missense_Mutation_p.T209R	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	248					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TATAGTCCCTGTTACATCAGC	0.284																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(922-924)aCa>aGa		MCF.2 cell line derived transforming sequence							36.0	34.0	34.0					X																	138701810		2202	4283	6485	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138701810G>C		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.743C>G	X.37:g.138701810G>C	ENSP00000359608:p.Thr248Arg					MCF2_ENST00000414978.1_Missense_Mutation_p.T308R|MCF2_ENST00000370573.4_Missense_Mutation_p.T248R|MCF2_ENST00000536274.1_Missense_Mutation_p.T209R|MCF2_ENST00000370578.4_Missense_Mutation_p.T393R|MCF2_ENST00000338585.6_Missense_Mutation_p.T248R|MCF2_ENST00000370576.4_Missense_Mutation_p.T248R|MCF2_ENST00000519895.1_Missense_Mutation_p.T308R	p.T308R			P10911	MCF2_HUMAN			10	1208	-	Acute lymphoblastic leukemia(192;0.000127)		248					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.923C>G	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419335	0.62622	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.2	4.28	0.50868	.	0.268520	0.41194	D	0.000929	T	0.45538	0.1347	L	0.44542	1.39	0.28183	N	0.928068	B;P;B;B;B;B;P;B	0.43578	0.06;0.713;0.1;0.06;0.391;0.06;0.811;0.271	B;P;B;B;B;B;P;B	0.51385	0.171;0.467;0.32;0.171;0.32;0.171;0.668;0.171	T	0.40683	-0.9550	10	0.66056	D	0.02	.	10.2406	0.43310	0.0:0.3351:0.6649:0.0	.	308;393;209;248;248;393;248;248	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	R	308;248;209;393;308;308;248;248	ENSP00000427745:T308R;ENSP00000359608:T248R;ENSP00000438155:T209R;ENSP00000359610:T393R;ENSP00000397055:T308R;ENSP00000430276:T308R;ENSP00000359605:T248R;ENSP00000342204:T248R	ENSP00000342204:T248R	T	-	2	0	MCF2	138529476	0.999000	0.42202	0.669000	0.29828	0.947000	0.59692	2.673000	0.46858	2.309000	0.77851	0.600000	0.82982	ACA		0.284	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		99	256	0	0	0	1	0	99	256				
VPS13C	54832	broad.mit.edu	37	15	62232964	62232964	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:62232964T>C	ENST00000261517.5	-	47	5556	c.5483A>G	c.(5482-5484)aAt>aGt	p.N1828S	VPS13C_ENST00000249837.3_Missense_Mutation_p.N1785S|VPS13C_ENST00000395896.4_Missense_Mutation_p.N1828S|VPS13C_ENST00000395898.3_Missense_Mutation_p.N1785S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCAATGTCATTTTGTGGCAA	0.333																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(5482-5484)aAt>aGt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							107.0	99.0	102.0					15																	62232964		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62232964T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5483A>G	15.37:g.62232964T>C	ENSP00000261517:p.Asn1828Ser					VPS13C_ENST00000249837.3_Missense_Mutation_p.N1785S|VPS13C_ENST00000395896.4_Missense_Mutation_p.N1828S|VPS13C_ENST00000395898.3_Missense_Mutation_p.N1785S	p.N1828S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			47	5556	-			1828						Missense_Mutation	SNP	ENST00000261517.5	37	c.5483A>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	0.137	-1.107141	0.01813	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.13657	2.57;2.57;2.57	5.15	-0.383	0.12477	.	0.958623	0.08693	N	0.907579	T	0.07188	0.0182	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.0;0.007;0.0	T	0.37596	-0.9699	10	0.10902	T	0.67	.	16.7954	0.85600	0.0:0.0:0.7831:0.2169	.	1785;1828;1785;1828	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	1785;1828;1828;1828	ENSP00000249837:N1785S;ENSP00000261517:N1828S;ENSP00000379233:N1828S	ENSP00000249837:N1785S	N	-	2	0	VPS13C	60020256	0.000000	0.05858	0.038000	0.18304	0.291000	0.27294	-0.102000	0.10956	-0.049000	0.13379	0.374000	0.22700	AAT		0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		97	220	0	0	0	1	0	97	220				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	355	0	0	0	1	0	5	355				
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Splice_Site	SNP	C	C	T	rs537144117	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061					ENST00000313250.5																			4	Substitution - Missense(4)	p.T102M(4)	central_nervous_system(2)|lung(1)|kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e2+1		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001630	splice_region_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424420C>T	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T						DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice	p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	508	+			102	T -> M (in Ref. 1; AAD02292).				B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	ENST00000313250.5	37	c.306_splice	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	5	67	0	0	0	1	0	5	67				
BMS1	9790	broad.mit.edu	37	10	43318566	43318566	+	Splice_Site	SNP	G	G	A	rs200948384		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:43318566G>A	ENST00000374518.5	+	20	3196	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1045					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACCTGTAGGGAATGTTTAA	0.388																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e20-1		BMS1 ribosome biogenesis factor							73.0	81.0	78.0					10																	43318566		2202	4298	6500	SO:0001630	splice_region_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318566G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3133-1G>A	10.37:g.43318566G>A							p.G1045_splice	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3196	+			1045					Q5QPT5|Q86XJ9	Splice_Site	SNP	ENST00000374518.5	37	c.3132_splice	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473226	0.84640	.	.	ENSG00000165733	ENST00000374518	T	0.16457	2.34	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.59984	-0.7351	9	.	.	.	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1045	Q14692	BMS1_HUMAN	R	1045	ENSP00000363642:G1045R	.	G	+	1	0	BMS1	42638572	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.439000	0.97543	2.250000	0.74265	0.454000	0.30748	GGA		0.388	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	Missense_Mutation	7	543	0	0	0	1	0	7	543				
WDR17	116966	broad.mit.edu	37	4	177052717	177052717	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:177052717C>G	ENST00000280190.4	+	8	1154	c.998C>G	c.(997-999)tCt>tGt	p.S333C	WDR17_ENST00000508596.1_Missense_Mutation_p.S309C|WDR17_ENST00000507824.2_Missense_Mutation_p.S316C|WDR17_ENST00000393643.2_Missense_Mutation_p.S309C			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	333										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCAGTCCAATCTCCAACCAAA	0.348																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(925-927)tCt>tGt		WD repeat domain 17							141.0	139.0	140.0					4																	177052717		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177052717C>G	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.998C>G	4.37:g.177052717C>G	ENSP00000280190:p.Ser333Cys					WDR17_ENST00000507824.2_Missense_Mutation_p.S316C|WDR17_ENST00000280190.4_Missense_Mutation_p.S333C|WDR17_ENST00000508596.1_Missense_Mutation_p.S309C	p.S309C	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	7	1178	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	333					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.926C>G	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.03|18.03	3.532927|3.532927	0.64972|0.64972	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.60171	.|0.25;0.27;0.21	5.44|5.44	4.57|4.57	0.56435|0.56435	.|WD40 repeat-like-containing domain (1);	.|0.115294	.|0.64402	.|N	.|0.000010	T|T	0.55545|0.55545	0.1927|0.1927	N|N	0.19112|0.19112	0.55|0.55	0.54753|0.54753	D|D	0.999984|0.999984	.|D;D	.|0.63046	.|0.992;0.992	.|P;P	.|0.55999	.|0.789;0.789	T|T	0.61143|0.61143	-0.7122|-0.7122	5|10	.|0.72032	.|D	.|0.01	-12.1229|-12.1229	12.5665|12.5665	0.56312|0.56312	0.1316:0.7416:0.1267:0.0|0.1316:0.7416:0.1267:0.0	.|.	.|309;333	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	V|C	82|309;309;333;316	.|ENSP00000422763:S309C;ENSP00000377258:S309C;ENSP00000280190:S333C	.|ENSP00000280190:S333C	L|S	+|+	1|2	0|0	WDR17|WDR17	177289711|177289711	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.830000|0.830000	0.47004|0.47004	2.389000|2.389000	0.44407|0.44407	1.375000|1.375000	0.46248|0.46248	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.348	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			158	291	0	0	0	1	0	158	291				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(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	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		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.chr12:25398285C>G	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.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	p.G12R	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	225	-	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.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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		260	175	0	0	0	1	0	260	175				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	262	0	0	0	1	0	6	262				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		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	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>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	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	7	138	0	0	0	1	0	7	138				
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:45128735T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GAAATACTAATGATTTTTATT	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128735T>C																													17.37:g.45128735T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	481	0	0	0	1	0	6	481				
PSMD1	5707	broad.mit.edu	37	2	231936963	231936963	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:231936963G>A	ENST00000308696.6	+	7	877	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	PSMD1_ENST00000373635.4_Missense_Mutation_p.E239K|PSMD1_ENST00000409643.1_Missense_Mutation_p.E239K	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ACTGGTAAAGGAAGACAACCT	0.348																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(715-717)Gaa>Aaa		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						205.0	198.0	200.0					2																	231936963		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231936963G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.715G>A	2.37:g.231936963G>A	ENSP00000309474:p.Glu239Lys					PSMD1_ENST00000373635.4_Missense_Mutation_p.E239K|PSMD1_ENST00000409643.1_Missense_Mutation_p.E239K	p.E239K	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	7	877	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	239					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.715G>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910516	0.33721	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.98	5.98	0.97165	Armadillo-type fold (1);	0.042539	0.85682	D	0.000000	T	0.44685	0.1305	L	0.28504	0.86	0.80722	D	1	B;P	0.34462	0.002;0.454	B;B	0.30572	0.004;0.117	T	0.41875	-0.9484	9	0.06365	T	0.9	-21.3045	20.4581	0.99154	0.0:0.0:1.0:0.0	.	239;239	Q99460;Q99460-2	PSMD1_HUMAN;.	K	239	.	ENSP00000309474:E239K	E	+	1	0	PSMD1	231645207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	GAA		0.348	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			32	594	0	0	0	1	0	32	594				
MUC17	140453	broad.mit.edu	37	7	100676777	100676777	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:100676777C>T	ENST00000306151.4	+	3	2144	c.2080C>T	c.(2080-2082)Cct>Tct	p.P694S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	694	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P694S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAAGTATGCCTGTCAACAC	0.493																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P694S(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2080-2082)Cct>Tct		mucin 17, cell surface associated							342.0	345.0	344.0					7																	100676777		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676777C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2080C>T	7.37:g.100676777C>T	ENSP00000302716:p.Pro694Ser						p.P694S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2144	+	Lung NSC(181;0.136)|all_lung(186;0.182)		694			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2080C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.194607	0.01594	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.966	-1.93	0.07594	.	.	.	.	.	T	0.01870	0.0059	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48636	-0.9018	9	0.10111	T	0.7	.	4.8343	0.13456	0.0:0.5143:0.2851:0.2006	.	694	Q685J3	MUC17_HUMAN	S	694	ENSP00000302716:P694S	ENSP00000302716:P694S	P	+	1	0	MUC17	100463497	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.036000	0.00084	-1.446000	0.01945	-0.879000	0.02964	CCT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	1947	0	0	0	1	0	7	1947				
PRB3	5544	broad.mit.edu	37	12	11420458	11420458	+	Missense_Mutation	SNP	C	C	T	rs28435564	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:11420458C>T	ENST00000279573.7	-	3	860	c.725G>A	c.(724-726)cGt>cAt	p.R242H	PRB3_ENST00000538488.1_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	179	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.612													c|||	1688	0.337061	0.1861	0.4251	5008	,	,		4544	0.3571		0.4453	False		,,,				2504	0.3466					ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							9.0	4.0	6.0					12																	11420458		1057	1581	2638	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420458C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.725G>A	12.37:g.11420458C>T	ENSP00000279573:p.Arg242His					PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.612	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		61	181	0	0	0	1	0	61	181				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		11	928	0	0	0	1	0	11	928				
IGDCC3	9543	broad.mit.edu	37	15	65667682	65667682	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:65667682G>A	ENST00000327987.4	-	2	413	c.162C>T	c.(160-162)gtC>gtT	p.V54V		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	54	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTGCCCGGGGACGGCAACAT	0.577																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(160-162)gtC>gtT		immunoglobulin superfamily, DCC subclass, member 3							40.0	32.0	35.0					15																	65667682		2201	4299	6500	SO:0001819	synonymous_variant	9543							g.chr15:65667682G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.162C>T	15.37:g.65667682G>A							p.V54V	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			2	413	-			54			Ig-like C2-type 1.		O95215	Silent	SNP	ENST00000327987.4	37	c.162C>T	CCDS10205.1																																																																																				0.577	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		56	80	0	0	0	1	0	56	80				
AC002472.1	0	broad.mit.edu	37	22	21363349	21363349	+	5'Flank	SNP	A	A	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:21363349A>G	ENST00000547793.2	-	0	0				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA																							TATGGCACCAAGTTGGTTTGG	0.582																																						ENST00000452284.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr22:21363349A>G																													22.37:g.21363349A>G	Exception_encountered					THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA		NR_027051.1						0	1016	+									RNA	SNP	ENST00000547793.2	37																																																																																						0.582	AC002472.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				5	179	0	0	0	1	0	5	179				
TTN	7273	broad.mit.edu	37	2	179588862	179588862	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:179588862C>G	ENST00000591111.1	-	71	20397	c.20173G>C	c.(20173-20175)Gtt>Ctt	p.V6725L	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5798L|TTN_ENST00000589042.1_Missense_Mutation_p.V7042L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12352					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGGAGGAACTGCTCGGTCT	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(21124-21126)Gtt>Ctt		titin							54.0	50.0	51.0					2																	179588862		1883	4108	5991	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588862C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20173G>C	2.37:g.179588862C>G	ENSP00000465570:p.Val6725Leu					TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V6725L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5798L	p.V7042L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		73	21348	-			6725			Ig-like 52.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.21124G>C		.	.	.	.	.	.	.	.	.	.	C	12.09	1.833165	0.32421	.	.	ENSG00000155657	ENST00000342992	T	0.40225	1.04	6.02	5.14	0.70334	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39937	0.1097	M	0.72118	2.19	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44221	-0.9342	9	0.87932	D	0	.	5.5952	0.17323	0.0:0.655:0.1794:0.1656	.	6725	Q8WZ42	TITIN_HUMAN	L	5798	ENSP00000343764:V5798L	ENSP00000343764:V5798L	V	-	1	0	TTN	179297107	0.999000	0.42202	0.998000	0.56505	0.883000	0.51084	3.663000	0.54518	1.538000	0.49270	0.655000	0.94253	GTT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	142	0	0	0	1	0	5	142				
MAGEB2	4113	broad.mit.edu	37	X	30236744	30236744	+	Missense_Mutation	SNP	G	G	A	rs151181148	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:30236744G>A	ENST00000378988.4	+	2	148	c.47G>A	c.(46-48)cGc>cAc	p.R16H		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	16										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGAAACGCCGCAAGGCCCGA	0.542													G|||	5	0.0013245	0.0	0.0	3775	,	,		13562	0.0		0.0	False		,,,				2504	0.0051					ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(46-48)cGc>cAc		melanoma antigen family B, 2							40.0	38.0	39.0					X																	30236744		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236744G>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.47G>A	X.37:g.30236744G>A	ENSP00000368273:p.Arg16His						p.R16H	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	148	+			16					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.47G>A	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770406	0.15983	.	.	ENSG00000099399	ENST00000378988	T	0.04862	3.54	3.43	-3.36	0.04913	Melanoma associated antigen, MAGE, N-terminal (1);	0.346074	0.24848	N	0.035101	T	0.03136	0.0092	L	0.28344	0.845	0.09310	N	1	P	0.35307	0.494	B	0.29077	0.098	T	0.45877	-0.9231	10	0.11794	T	0.64	.	10.3334	0.43835	0.7538:0.0:0.2462:0.0	.	16	O15479	MAGB2_HUMAN	H	16	ENSP00000368273:R16H	ENSP00000368273:R16H	R	+	2	0	MAGEB2	30146665	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.865000	0.04250	-1.207000	0.02637	-1.144000	0.01866	CGC		0.542	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		4	165	0	0	0	1	0	4	165				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		15	652	0	0	0	1	0	15	652				
CCNK	8812	broad.mit.edu	37	14	99961945	99961945	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:99961945C>T	ENST00000389879.5	+	4	513	c.390C>T	c.(388-390)ggC>ggT	p.G130G	CCNK_ENST00000555049.1_Silent_p.G130G|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	130					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				TACAATTTGGCCAGTTTGGAG	0.383																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(388-390)ggC>ggT		cyclin K							153.0	152.0	152.0					14																	99961945		1871	4110	5981	SO:0001819	synonymous_variant	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99961945C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.390C>T	14.37:g.99961945C>T						CCNK_ENST00000555049.1_Silent_p.G130G|CCNK_ENST00000557165.1_3'UTR	p.G130G	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN			4	513	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	130					Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	ENST00000389879.5	37	c.390C>T	CCDS45160.1																																																																																				0.383	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			6	524	0	0	0	1	0	6	524				
KRTAP5-10	387273	broad.mit.edu	37	11	71276945	71276945	+	Silent	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:71276945T>C	ENST00000398531.1	+	1	337	c.312T>C	c.(310-312)tgT>tgC	p.C104C	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	104	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						AGGGGGGCTGTGGTTCTTGTG	0.677																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(310-312)tgT>tgC		keratin associated protein 5-10							38.0	58.0	51.0					11																	71276945		2154	4270	6424	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276945T>C	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.312T>C	11.37:g.71276945T>C						KRTAP5-10_ENST00000376536.4_Intron	p.C104C	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	337	+			104			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.312T>C	CCDS41684.1																																																																																				0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			8	461	0	0	0	1	0	8	461				
NPTX1	4884	broad.mit.edu	37	17	78449379	78449379	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:78449379G>A	ENST00000306773.4	-	2	741	c.584C>T	c.(583-585)aCc>aTc	p.T195I	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	195					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTCTCCTCGGTGTCGTTCCT	0.652																																						ENST00000306773.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(583-585)aCc>aTc		neuronal pentraxin I							53.0	40.0	45.0					17																	78449379		2202	4300	6502	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78449379G>A	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.584C>T	17.37:g.78449379G>A	ENSP00000307549:p.Thr195Ile					NPTX1_ENST00000575212.1_5'UTR	p.T195I	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		2	741	-	all_neural(118;0.0538)		195					B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.584C>T	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576629	0.45902	.	.	ENSG00000171246	ENST00000306773	T	0.11712	2.75	3.6	3.6	0.41247	.	0.182364	0.46442	D	0.000283	T	0.15003	0.0362	M	0.65975	2.015	0.43622	D	0.996006	P	0.50710	0.938	B	0.41860	0.368	T	0.08868	-1.0701	10	0.54805	T	0.06	-19.859	14.5266	0.67892	0.0:0.0:1.0:0.0	.	195	Q15818	NPTX1_HUMAN	I	195	ENSP00000307549:T195I	ENSP00000307549:T195I	T	-	2	0	NPTX1	76063974	1.000000	0.71417	0.961000	0.40146	0.720000	0.41350	4.073000	0.57570	2.010000	0.58986	0.561000	0.74099	ACC		0.652	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			60	96	0	0	0	1	0	60	96				
PPP1R3D	5509	broad.mit.edu	37	20	58514231	58514231	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:58514231G>A	ENST00000370996.3	-	1	1121	c.756C>T	c.(754-756)cgC>cgT	p.R252R	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	252	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CGAAGTGCACGCGGGAGCCGA	0.677																																						ENST00000370996.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13						c.(754-756)cgC>cgT		protein phosphatase 1, regulatory subunit 3D							44.0	45.0	45.0					20																	58514231		2202	4300	6502	SO:0001819	synonymous_variant	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514231G>A	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.756C>T	20.37:g.58514231G>A						FAM217B_ENST00000358293.3_Intron	p.R252R	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	1121	-	all_lung(29;0.00391)		252			CBM21.		Q6DK02	Silent	SNP	ENST00000370996.3	37	c.756C>T	CCDS13483.1																																																																																				0.677	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		68	127	0	0	0	1	0	68	127				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		17	67	0	0	0	1	0	17	67				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		7	290	0	0	0	1	0	7	290				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L					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_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L	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	212	1	0	1.23904e-05	1	1.25613e-05	5	212				
LILRA3	11026	broad.mit.edu	37	19	54802498	54802498	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:54802498C>T	ENST00000251390.3	-	5	1034	c.943G>A	c.(943-945)Gac>Aac	p.D315N	LILRA3_ENST00000391745.1_Missense_Mutation_p.D332N|LILRA3_ENST00000391744.3_Missense_Mutation_p.D251N	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	315	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCAGGATGTCCAGGGGGTCG	0.672																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(994-996)Gac>Aac		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							22.0	26.0	25.0					19																	54802498		2186	4151	6337	SO:0001583	missense	0							g.chr19:54802498C>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.943G>A	19.37:g.54802498C>T	ENSP00000251390:p.Asp315Asn					LILRA3_ENST00000251390.3_Missense_Mutation_p.D315N|LILRA3_ENST00000391744.3_Missense_Mutation_p.D251N	p.D332N						GBM - Glioblastoma multiforme(193;0.105)	9	1310	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.994G>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803615	0.50315	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.10668	2.85;2.85;2.85	2.21	2.21	0.28008	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.436516	0.16910	N	0.194525	T	0.30541	0.0768	M	0.85041	2.73	0.09310	N	0.999994	P;B	0.46859	0.885;0.19	D;B	0.64321	0.924;0.327	T	0.01557	-1.1325	10	0.51188	T	0.08	.	8.0405	0.30519	0.0:1.0:0.0:0.0	.	315;315	E7EU74;Q8N6C8	.;LIRA3_HUMAN	N	315;251;332	ENSP00000251390:D315N;ENSP00000375624:D251N;ENSP00000375625:D332N	ENSP00000251390:D315N	D	-	1	0	LILRA3	59494310	0.000000	0.05858	0.474000	0.27266	0.030000	0.12068	-0.250000	0.08830	1.576000	0.49790	0.586000	0.80456	GAC		0.672	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			10	267	0	0	0	1	0	10	267				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		8	584	0	0	0	1	0	8	584				
ABHD8	79575	broad.mit.edu	37	19	17405126	17405126	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:17405126G>A	ENST00000247706.3	-	4	1359	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	MRPL34_ENST00000595444.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	374							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCCTCCACCGGCACAAACTTA	0.672																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(1120-1122)Ccg>Tcg		abhydrolase domain containing 8							59.0	50.0	53.0					19																	17405126		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405126G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1120C>T	19.37:g.17405126G>A	ENSP00000247706:p.Pro374Ser					MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.P374S	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1359	-			374					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.1120C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273390	0.80580	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.70516	-0.49	5.28	5.28	0.74379	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	L	0.46157	1.445	0.80722	D	1	P	0.46395	0.877	P	0.51016	0.656	T	0.69993	-0.4994	10	0.29301	T	0.29	-28.0008	16.4003	0.83639	0.0:0.0:1.0:0.0	.	374	Q96I13	ABHD8_HUMAN	S	374;320	ENSP00000247706:P374S	ENSP00000247706:P374S	P	-	1	0	ABHD8	17266126	1.000000	0.71417	0.996000	0.52242	0.529000	0.34654	9.385000	0.97223	2.470000	0.83445	0.655000	0.94253	CCG		0.672	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		4	151	0	0	0	1	0	4	151				
OTUD4	54726	broad.mit.edu	37	4	146058966	146058966	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:146058966G>A	ENST00000447906.2	-	21	3148	c.2961C>T	c.(2959-2961)agC>agT	p.S987S	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.S922S			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	987					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTTCTTTCAGGCTTTGAATGG	0.453																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2764-2766)agC>agT		OTU domain containing 4							127.0	134.0	131.0					4																	146058966		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146058966G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2961C>T	4.37:g.146058966G>A						OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.S987S	p.S922S	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2903	-	all_hematologic(180;0.151)		986					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2766C>T																																																																																					0.453	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		11	807	0	0	0	1	0	11	807				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		15	675	0	0	0	1	0	15	675				
PTHLH	5744	broad.mit.edu	37	12	28116642	28116642	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:28116642G>A	ENST00000545234.1	-	5	703	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	PTHLH_ENST00000538310.1_Missense_Mutation_p.R55W|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000201015.4_Missense_Mutation_p.R55W|PTHLH_ENST00000354417.3_Missense_Mutation_p.R55W|PTHLH_ENST00000535992.1_Missense_Mutation_p.R55W|PTHLH_ENST00000539239.1_Missense_Mutation_p.R55W|PTHLH_ENST00000395868.3_Missense_Mutation_p.R55W|PTHLH_ENST00000395872.1_Missense_Mutation_p.R55W			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	55					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					AATCGTCGCCGTAAATCTTGG	0.468																																						ENST00000535992.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10						c.(163-165)Cgg>Tgg		parathyroid hormone-like hormone							145.0	144.0	145.0					12																	28116642		2203	4300	6503	SO:0001583	missense	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28116642G>A		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.163C>T	12.37:g.28116642G>A	ENSP00000441765:p.Arg55Trp					PTHLH_ENST00000545234.1_Missense_Mutation_p.R55W|PTHLH_ENST00000201015.4_Missense_Mutation_p.R55W|PTHLH_ENST00000539239.1_Missense_Mutation_p.R55W|PTHLH_ENST00000395868.3_Missense_Mutation_p.R55W|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.R55W|PTHLH_ENST00000395872.1_Missense_Mutation_p.R55W|PTHLH_ENST00000354417.3_Missense_Mutation_p.R55W	p.R55W			P12272	PTHR_HUMAN			3	509	-	Lung SC(9;0.184)		55					Q15251|Q6FH74	Missense_Mutation	SNP	ENST00000545234.1	37	c.163C>T	CCDS44853.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534678	0.64972	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963;ENST00000534890	D;D;D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.65	3.77	0.43336	.	0.123571	0.56097	D	0.000036	D	0.88819	0.6540	L	0.58101	1.795	0.48040	D	0.999574	D	0.89917	1.0	D	0.97110	1.0	D	0.89006	0.3425	10	0.87932	D	0	-21.5477	13.9819	0.64310	0.0:0.0:0.7235:0.2765	.	55	P12272	PTHR_HUMAN	W	55;55;55;55;55;55;55;55;55;63	ENSP00000379213:R55W;ENSP00000441571:R55W;ENSP00000441765:R55W;ENSP00000441890:R55W;ENSP00000346398:R55W;ENSP00000201015:R55W;ENSP00000440613:R55W;ENSP00000379209:R55W;ENSP00000444519:R55W;ENSP00000445157:R63W	ENSP00000201015:R55W	R	-	1	2	PTHLH	28007909	1.000000	0.71417	0.071000	0.20095	0.941000	0.58515	3.005000	0.49521	0.692000	0.31613	-0.188000	0.12872	CGG		0.468	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		8	1538	0	0	0	1	0	8	1538				
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:62296070A>G	ENST00000378024.4	-	5	6093	c.5819T>C	c.(5818-5820)gTg>gCg	p.V1940A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1940					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5818-5820)gTg>gCg		AHNAK nucleoprotein							212.0	223.0	219.0					11																	62296070		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296070A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5819T>C	11.37:g.62296070A>G	ENSP00000367263:p.Val1940Ala					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.V1940A	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6093	-		Melanoma(852;0.155)	1940					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5819T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	4.561	0.104230	0.08731	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01347	4.99	2.29	0.902	0.19290	.	.	.	.	.	T	0.03651	0.0104	M	0.91663	3.23	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21861	-1.0233	9	0.46703	T	0.11	.	7.4842	0.27423	0.8688:0.0:0.1312:0.0	.	1940	Q09666	AHNK_HUMAN	A	29;1940	ENSP00000367263:V1940A	ENSP00000244934:V29A	V	-	2	0	AHNAK	62052646	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.071000	0.14594	-0.202000	0.10268	-2.704000	0.00135	GTG		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		10	1275	0	0	0	1	0	10	1275				
CACNA1B	774	broad.mit.edu	37	9	141015982	141015982	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:141015982G>A	ENST00000371372.1	+	47	6696	c.6551G>A	c.(6550-6552)cGc>cAc	p.R2184H	CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2182H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2185H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2183H|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R1378H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2184					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCCCCGGCCGCGGTGGGCGG	0.612																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4132-4134)cGc>cAc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						30.0	35.0	33.0					9																	141015982		1930	4112	6042	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141015982G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6551G>A	9.37:g.141015982G>A	ENSP00000360423:p.Arg2184His					CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2185H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2183H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2182H|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R2184H	p.R1378H			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	47	6702	+	all_cancers(76;0.166)		2184					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4133G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484890	0.63962	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.99005	-5.0;-5.32;-5.02;-5.01;-4.99	5.0	5.0	0.66597	.	0.199712	0.44688	D	0.000428	D	0.99242	0.9736	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99624	1.0984	10	0.87932	D	0	.	18.2798	0.90096	0.0:0.0:1.0:0.0	.	2183;2182	B1AQK7;B1AQK6	.;.	H	2184;1378;2182;2183;2185	ENSP00000360423:R2184H;ENSP00000277549:R1378H;ENSP00000360414:R2182H;ENSP00000360408:R2183H;ENSP00000360406:R2185H	ENSP00000277549:R1378H	R	+	2	0	CACNA1B	140135803	1.000000	0.71417	0.930000	0.37139	0.248000	0.25809	9.166000	0.94766	2.319000	0.78375	0.561000	0.74099	CGC		0.612	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		44	104	0	0	0	1	0	44	104				
NBPF22P	285622	broad.mit.edu	37	5	85578656	85578656	+	RNA	SNP	C	C	T	rs531869928		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:85578656C>T	ENST00000590707.1	+	0	379					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		CCAGGAATTGCGCTCCCAGCT	0.512													c|||	1	0.000199681	0.0	0.0	5008	,	,		19204	0.0		0.0	False		,,,				2504	0.001					ENST00000590707.1																			0																																																			0							g.chr5:85578656C>T	BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85578656C>T								NR_003719.2						0	379	+									RNA	SNP	ENST00000590707.1	37																																																																																						0.512	NBPF22P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453100.1	XM_208333		5	390	0	0	0	1	0	5	390				
PCDHA6	56142	broad.mit.edu	37	5	140209874	140209874	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:140209874C>T	ENST00000529310.1	+	1	2312	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	733					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGTGCACGGCGGACAAG	0.692																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2197-2199)aCg>aTg									45.0	45.0	45.0					5																	140209874		2203	4298	6501	SO:0001583	missense	0							g.chr5:140209874C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2198C>T	5.37:g.140209874C>T	ENSP00000433378:p.Thr733Met					PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.T733M	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2312	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2198C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	6.587	0.476729	0.12521	.	.	ENSG00000081842	ENST00000529310	T	0.12039	2.72	4.12	-3.39	0.04868	.	0.708972	0.11240	U	0.584704	T	0.07818	0.0196	L	0.36672	1.1	0.09310	N	0.999999	B;P	0.38395	0.285;0.629	B;B	0.33890	0.128;0.172	T	0.15780	-1.0425	10	0.46703	T	0.11	.	4.197	0.10448	0.1561:0.394:0.3432:0.1068	.	733;733	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	M	733	ENSP00000433378:T733M	ENSP00000433378:T733M	T	+	2	0	PCDHA6	140190058	0.733000	0.28132	0.002000	0.10522	0.004000	0.04260	0.878000	0.28126	-0.870000	0.04047	0.306000	0.20318	ACG		0.692	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		108	205	0	0	0	1	0	108	205				
SIAH2	6478	broad.mit.edu	37	3	150460358	150460358	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:150460358T>C	ENST00000312960.3	-	2	1072	c.545A>G	c.(544-546)gAa>gGa	p.E182G		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	182	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CATCACAGCTTCCAGGGACCC	0.527																																						ENST00000312960.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16						c.(544-546)gAa>gGa		siah E3 ubiquitin protein ligase 2							117.0	105.0	109.0					3																	150460358		2203	4300	6503	SO:0001583	missense	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460358T>C	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.545A>G	3.37:g.150460358T>C	ENSP00000322457:p.Glu182Gly						p.E182G	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1072	-			182			SBD.		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	c.545A>G	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.009834	0.93346	.	.	ENSG00000181788	ENST00000312960;ENST00000482706	T;T	0.26373	1.74;1.74	5.54	5.54	0.83059	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.56769	1.78	0.80722	D	1	B	0.15473	0.013	B	0.22152	0.038	T	0.03875	-1.0996	10	0.30854	T	0.27	.	15.6746	0.77307	0.0:0.0:0.0:1.0	.	182	O43255	SIAH2_HUMAN	G	182;56	ENSP00000322457:E182G;ENSP00000417619:E56G	ENSP00000322457:E182G	E	-	2	0	SIAH2	151943048	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.024000	0.88770	2.094000	0.63399	0.402000	0.26972	GAA		0.527	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		159	255	0	0	0	1	0	159	255				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	443	0	0	0	1	0	7	443				
SEMG1	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	A	rs199672858	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:43837052C>A	ENST00000372781.3	+	2	1171	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S	SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	372	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.		R -> L (in dbSNP:rs2233887). {ECO:0000269|PubMed:14629036}.		insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(1114-1116)Cgc>Agc		semenogelin I							77.0	71.0	73.0					20																	43837052		2203	4300	6503	SO:0001583	missense	6406							g.chr20:43837052C>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1114C>A	20.37:g.43837052C>A	ENSP00000361867:p.Arg372Ser					SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S	p.R372S	NM_003007.3	NP_002998.1					2	1171	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.1114C>A	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.712711	0.00712	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.03951	3.75;3.75	0.951	-1.9	0.07665	.	.	.	.	.	T	0.00754	0.0025	N	0.00082	-2.215	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34079	-0.9843	9	0.09590	T	0.72	.	0.297	0.00267	0.2228:0.2395:0.2981:0.2396	.	312;372	P04279-2;P04279	.;SEMG1_HUMAN	S	312;372	ENSP00000244069:R312S;ENSP00000361867:R372S	ENSP00000244069:R312S	R	+	1	0	SEMG1	43270466	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.965000	0.03829	-2.064000	0.00888	-1.625000	0.00788	CGC		0.418	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		6	341	1	0	3.59834e-05	1	3.62298e-05	6	341				
ZNF106	64397	broad.mit.edu	37	15	42742345	42742345	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:42742345G>A	ENST00000263805.4	-	2	2382	c.2056C>T	c.(2056-2058)Cat>Tat	p.H686Y	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	686					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TAAGATACATGAGATTTAATA	0.448																																						ENST00000263805.4																			0											c.(2056-2058)Cat>Tat		zinc finger protein 106							119.0	122.0	121.0					15																	42742345		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742345G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2056C>T	15.37:g.42742345G>A	ENSP00000263805:p.His686Tyr					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.H686Y	NM_022473.1	NP_071918.1					2	2382	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2056C>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364882	0.24684	.	.	ENSG00000103994	ENST00000263805	T	0.41758	0.99	5.14	3.07	0.35406	.	0.358212	0.26696	N	0.022976	T	0.38983	0.1061	L	0.36672	1.1	0.33741	D	0.619478	P;P	0.52692	0.955;0.681	P;B	0.48030	0.564;0.185	T	0.56547	-0.7961	10	0.49607	T	0.09	-3.9196	12.5075	0.55989	0.0:0.2927:0.598:0.1093	.	469;686	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	Y	686	ENSP00000263805:H686Y	ENSP00000263805:H686Y	H	-	1	0	ZFP106	40529637	0.196000	0.23350	0.946000	0.38457	0.968000	0.65278	0.366000	0.20365	1.472000	0.48140	0.650000	0.86243	CAT		0.448	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		234	441	0	0	0	1	0	234	441				
ZMYND12	84217	broad.mit.edu	37	1	42914150	42914150	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:42914150C>T	ENST00000372565.3	-	3	681	c.412G>A	c.(412-414)Gag>Aag	p.E138K	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	138						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGCTGGCCTCGGCCAACAGC	0.527																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(412-414)Gag>Aag		zinc finger, MYND-type containing 12							59.0	54.0	56.0					1																	42914150		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42914150C>T	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.412G>A	1.37:g.42914150C>T	ENSP00000361646:p.Glu138Lys					ZMYND12_ENST00000433602.2_Intron	p.E138K	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			3	681	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	138					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.412G>A	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983575	0.93044	.	.	ENSG00000066185	ENST00000372565	T	0.63096	-0.02	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);	0.051999	0.85682	D	0.000000	T	0.77711	0.4171	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73927	-0.3828	10	0.16896	T	0.51	-14.4689	16.5355	0.84372	0.0:1.0:0.0:0.0	.	138	Q9H0C1	ZMY12_HUMAN	K	138	ENSP00000361646:E138K	ENSP00000361646:E138K	E	-	1	0	ZMYND12	42686737	0.999000	0.42202	0.983000	0.44433	0.938000	0.57974	5.319000	0.65835	2.505000	0.84491	0.561000	0.74099	GAG		0.527	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		27	30	0	0	0	1	0	27	30				
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	rs569602183	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47.0	39.0	41.0					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		6	425	1	0	5.9392e-07	1	6.10533e-07	6	425				
FLG2	388698	broad.mit.edu	37	1	152326017	152326017	+	Missense_Mutation	SNP	C	C	A	rs200173482		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:152326017C>A	ENST00000388718.5	-	3	4317	c.4245G>T	c.(4243-4245)agG>agT	p.R1415S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1415					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)			TTCCAGTTGTCCTGGACCCTC	0.527																																						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.(4243-4245)agG>agT		filaggrin family member 2							268.0	254.0	259.0					1																	152326017		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326017C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4245G>T	1.37:g.152326017C>A	ENSP00000373370:p.Arg1415Ser					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.R1415S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4317	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1415					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4245G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	1.080	-0.667351	0.03428	.	.	ENSG00000143520	ENST00000388718	T	0.03663	3.85	3.86	-7.71	0.01254	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.47886	-0.9082	9	0.07325	T	0.83	0.4423	1.4492	0.02371	0.1718:0.1676:0.3822:0.2784	.	1415	Q5D862	FILA2_HUMAN	S	1415	ENSP00000373370:R1415S	ENSP00000373370:R1415S	R	-	3	2	FLG2	150592641	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-10.701000	0.00005	-2.959000	0.00290	-0.514000	0.04452	AGG		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	1278	1	0	0.00448238	1	0.00448238	8	1278				
APCDD1	147495	broad.mit.edu	37	18	10472020	10472020	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr18:10472020C>T	ENST00000355285.5	+	3	1090	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GATGTTCTACCGGCCCTCCAG	0.537																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(736-738)Cgg>Tgg		adenomatosis polyposis coli down-regulated 1							71.0	71.0	71.0					18																	10472020		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10472020C>T	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.736C>T	18.37:g.10472020C>T	ENSP00000347433:p.Arg246Trp					APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR	p.R246W	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	1090	+			246						Missense_Mutation	SNP	ENST00000355285.5	37	c.736C>T	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753818	0.69648	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.22539	1.95	5.3	4.43	0.53597	.	0.049712	0.85682	D	0.000000	T	0.48840	0.1522	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55872	-0.8072	10	0.87932	D	0	-42.2491	14.5639	0.68162	0.2645:0.7355:0.0:0.0	.	246	Q8J025	APCD1_HUMAN	W	246;297	ENSP00000347433:R246W	ENSP00000347433:R246W	R	+	1	2	APCDD1	10462020	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	0.987000	0.29603	1.221000	0.43506	0.655000	0.94253	CGG		0.537	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		206	377	0	0	0	1	0	206	377				
OR11L1	391189	broad.mit.edu	37	1	248004939	248004939	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:248004939G>A	ENST00000355784.2	-	1	315	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	87						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S87Y(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTGGCCCCAGGACAGCAGGTT	0.572																																						ENST00000355784.2																			1	Substitution - Missense(1)	p.S87Y(1)	lung(1)	NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(259-261)tCc>tTc		olfactory receptor, family 11, subfamily L, member 1							70.0	59.0	62.0					1																	248004939		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004939G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.260C>T	1.37:g.248004939G>A	ENSP00000348033:p.Ser87Phe						p.S87F	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	315	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		87						Missense_Mutation	SNP	ENST00000355784.2	37	c.260C>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	5.658	0.306021	0.10733	.	.	ENSG00000197591	ENST00000355784	T	0.00414	7.52	4.2	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.474733	0.15567	U	0.255629	T	0.00440	0.0014	L	0.52823	1.66	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.41893	-0.9483	10	0.56958	D	0.05	.	13.6185	0.62123	0.0:0.4233:0.5767:0.0	.	87	Q8NGX0	O11L1_HUMAN	F	87	ENSP00000348033:S87F	ENSP00000348033:S87F	S	-	2	0	OR11L1	246071562	0.000000	0.05858	0.004000	0.12327	0.302000	0.27658	-0.204000	0.09425	1.093000	0.41377	0.543000	0.68304	TCC		0.572	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		62	91	0	0	0	1	0	62	91				
SI	6476	broad.mit.edu	37	3	164709985	164709985	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:164709985G>A	ENST00000264382.3	-	43	5025	c.4963C>T	c.(4963-4965)Cgg>Tgg	p.R1655W		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1655	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCAAACCACCGAGCATTGGGG	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4963-4965)Cgg>Tgg		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						133.0	140.0	138.0					3																	164709985		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164709985G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4963C>T	3.37:g.164709985G>A	ENSP00000264382:p.Arg1655Trp	HNSCC(35;0.089)					p.R1655W	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			43	5025	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1655			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4963C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579614	0.86645	.	.	ENSG00000090402	ENST00000264382	D	0.91792	-2.91	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.93588	0.7953	M	0.85041	2.73	0.58432	D	0.999998	D	0.55800	0.973	P	0.46362	0.514	D	0.94785	0.7957	10	0.87932	D	0	.	16.0285	0.80560	0.0:0.0:1.0:0.0	.	1655	P14410	SUIS_HUMAN	W	1655	ENSP00000264382:R1655W	ENSP00000264382:R1655W	R	-	1	2	SI	166192679	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.905000	0.69893	2.609000	0.88269	0.655000	0.94253	CGG		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		284	587	0	0	0	1	0	284	587				
MAGEA12	4111	broad.mit.edu	37	X	151900345	151900345	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:151900345G>A	ENST00000357916.4	-	2	611	c.456C>T	c.(454-456)agC>agT	p.S152S	CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393869.3_Silent_p.S152S|MAGEA12_ENST00000393900.3_Silent_p.S152S|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000452779.2_5'Flank|CSAG1_ENST00000370291.2_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	152	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGGCTTTGCTGAAGATCA	0.532																																						ENST00000393900.3																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(454-456)agC>agT		melanoma antigen family A, 12							144.0	138.0	140.0					X																	151900345		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151900345G>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.456C>T	X.37:g.151900345G>A						CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.S152S|MAGEA12_ENST00000357916.4_Silent_p.S152S	p.S152S	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	809	-	Acute lymphoblastic leukemia(192;6.56e-05)		152			MAGE.		Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.456C>T	CCDS14710.1																																																																																				0.532	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		356	637	0	0	0	1	0	356	637				
MPV17L2	84769	broad.mit.edu	37	19	18306860	18306860	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:18306860G>A	ENST00000599612.2	+	5	716	c.616G>A	c.(616-618)Gac>Aac	p.D206N		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	206						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						CACCCGAGCAGACTGAACTGT	0.607																																						ENST00000599612.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(616-618)Gac>Aac		MPV17 mitochondrial membrane protein-like 2							93.0	103.0	100.0					19																	18306860		2071	4193	6264	SO:0001583	missense	84769					integral to membrane		g.chr19:18306860G>A	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.616G>A	19.37:g.18306860G>A	ENSP00000469836:p.Asp206Asn					MPV17L2_ENST00000534474.2_Missense_Mutation_p.R180K	p.D206N	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN			5	716	+			206					Q96P34|Q96QA0|Q9BSG4	Missense_Mutation	SNP	ENST00000599612.2	37	c.616G>A	CCDS42522.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675021	0.29783	.	.	ENSG00000254858	ENST00000534474;ENST00000247712	D	0.90444	-2.67	3.14	-1.29	0.09288	.	5.004980	0.01915	U	0.040100	D	0.86171	0.5869	L	0.43152	1.355	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.70472	-0.4862	10	0.72032	D	0.01	-0.1015	5.0135	0.14324	0.0:0.2321:0.4067:0.3611	.	206	Q567V2	M17L2_HUMAN	N	181;206	ENSP00000247712:D206N	ENSP00000247712:D206N	D	+	1	0	MPV17L2	18167860	0.003000	0.15002	0.000000	0.03702	0.041000	0.13682	0.037000	0.13840	-0.226000	0.09899	0.561000	0.74099	GAC		0.607	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		90	68	0	0	0	1	0	90	68				
FSHR	2492	broad.mit.edu	37	2	49247297	49247297	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:49247297T>A	ENST00000406846.2	-	3	346	c.227A>T	c.(226-228)gAg>gTg	p.E76V	FSHR_ENST00000346173.3_Missense_Mutation_p.E76V|FSHR_ENST00000304421.4_Missense_Mutation_p.E76V	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	76					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CTGAGAGATCTCTCTGTGGAG	0.413									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(226-228)gAg>gTg		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						199.0	206.0	204.0					2																	49247297		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49247297T>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.227A>T	2.37:g.49247297T>A	ENSP00000384708:p.Glu76Val					FSHR_ENST00000346173.3_Missense_Mutation_p.E76V|FSHR_ENST00000304421.4_Missense_Mutation_p.E76V	p.E76V	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	346	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	76					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.227A>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150403	0.57151	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.3	5.3	0.74995	.	0.403945	0.24717	N	0.036163	D	0.90700	0.7082	M	0.67517	2.055	0.80722	D	1	P;D;D	0.60160	0.732;0.963;0.987	B;P;P	0.60609	0.322;0.774;0.877	D	0.90213	0.4266	9	.	.	.	.	11.5563	0.50750	0.0:0.0:0.0:1.0	.	76;76;76	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	V	76	ENSP00000384708:E76V;ENSP00000333908:E76V;ENSP00000306780:E76V;ENSP00000415504:E76V	.	E	-	2	0	FSHR	49100801	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	4.321000	0.59209	2.217000	0.71921	0.528000	0.53228	GAG		0.413	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			8	1228	0	0	0	1	0	8	1228				
TTC21A	199223	broad.mit.edu	37	3	39175709	39175709	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:39175709G>A	ENST00000431162.2	+	21	2907	c.2773G>A	c.(2773-2775)Gtg>Atg	p.V925M	TTC21A_ENST00000301819.6_Splice_Site_p.V926M|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Splice_Site_p.V877M			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	925										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTGTCCCAGGTGATGCTGGA	0.547																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.e21-1		tetratricopeptide repeat domain 21A							178.0	181.0	180.0					3																	39175709		1988	4156	6144	SO:0001630	splice_region_variant	199223						binding	g.chr3:39175709G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2773-1G>A	3.37:g.39175709G>A						TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Splice_Site_p.V925_splice|TTC21A_ENST00000440121.1_Splice_Site_p.V877_splice	p.V926_splice	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	21	2953	+			925					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Splice_Site	SNP	ENST00000431162.2	37	c.2775_splice	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689557	0.68271	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.38887	1.11;1.11;1.11	4.52	4.52	0.55395	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.56097	D	0.000031	T	0.60235	0.2253	M	0.63428	1.95	0.80722	D	1	P;D;D;D	0.76494	0.911;0.995;0.999;0.998	P;P;D;D	0.69479	0.709;0.834;0.964;0.921	T	0.60515	-0.7248	9	.	.	.	-22.5503	16.1729	0.81831	0.0:0.0:1.0:0.0	.	46;877;926;925	B4DSJ5;Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;.;TT21A_HUMAN	M	926;908;925;877	ENSP00000301819:V926M;ENSP00000398211:V925M;ENSP00000410882:V877M	.	V	+	1	0	TTC21A	39150713	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.580000	0.60942	2.337000	0.79520	0.462000	0.41574	GTG		0.547	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	Missense_Mutation	397	369	0	0	0	1	0	397	369				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	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	290	0	0	0	1	0	5	290				
AGAP1	116987	broad.mit.edu	37	2	236649676	236649676	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:236649676G>C	ENST00000304032.8	+	4	960	c.380G>C	c.(379-381)gGc>gCc	p.G127A	AGAP1_ENST00000409538.1_Missense_Mutation_p.G392A|AGAP1_ENST00000409457.1_Missense_Mutation_p.G127A|AGAP1_ENST00000336665.5_Missense_Mutation_p.G127A	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	127	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.G127A(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GATGAAGGGGGCCCCCCGGAG	0.488																																						ENST00000409538.1																			1	Substitution - Missense(1)	p.G127A(1)	large_intestine(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1174-1176)gGc>gCc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							84.0	84.0	84.0					2																	236649676		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236649676G>C	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.380G>C	2.37:g.236649676G>C	ENSP00000307634:p.Gly127Ala					AGAP1_ENST00000336665.5_Missense_Mutation_p.G127A|AGAP1_ENST00000304032.7_Missense_Mutation_p.G127A|AGAP1_ENST00000409457.1_Missense_Mutation_p.G127A	p.G392A			Q9UPQ3	AGAP1_HUMAN			4	1671	+			127			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1175G>C	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506957	0.85282	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	4.8	4.8	0.61643	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	H	0.97783	4.075	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.85130	0.919;0.997	D	0.88806	0.3288	10	0.72032	D	0.01	.	18.2419	0.89970	0.0:0.0:1.0:0.0	.	127;127	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	A	127;127;127;74;392	ENSP00000387174:G127A;ENSP00000307634:G127A;ENSP00000338378:G127A;ENSP00000385492:G74A;ENSP00000386897:G392A	ENSP00000307634:G127A	G	+	2	0	AGAP1	236314415	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.687000	0.98667	2.357000	0.79964	0.561000	0.74099	GGC		0.488	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		76	160	0	0	0	1	0	76	160				
SCN4A	6329	broad.mit.edu	37	17	62036708	62036708	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:62036708C>T	ENST00000435607.1	-	12	2012	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	SCN4A_ENST00000578147.1_Missense_Mutation_p.D646N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	646					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGATGCTGTCGAAGATATTC	0.547																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(1936-1938)Gac>Aac		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						86.0	90.0	88.0					17																	62036708		2098	4237	6335	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62036708C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1936G>A	17.37:g.62036708C>T	ENSP00000396320:p.Asp646Asn					SCN4A_ENST00000578147.1_Missense_Mutation_p.D646N	p.D646N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			12	2012	-			646					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1936G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	35	5.589870	0.96590	.	.	ENSG00000007314	ENST00000435607	D	0.99376	-5.79	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97220	0.9877	10	0.87932	D	0	.	17.3545	0.87332	0.0:1.0:0.0:0.0	.	646	P35499	SCN4A_HUMAN	N	646	ENSP00000396320:D646N	ENSP00000396320:D646N	D	-	1	0	SCN4A	59390440	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.571000	0.82399	2.573000	0.86826	0.556000	0.70494	GAC		0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		84	137	0	0	0	1	0	84	137				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	451	0	0	0	1	0	7	451				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	542	0	0	0	1	0	7	542				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	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.S168S(5)		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)		tgctgctgctgctactgctgc	0.537			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		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(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.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>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.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	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	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		9	151	0	0	0	1	0	9	151				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		7	145	0	0	0	1	0	7	145				
AHNAK	79026	broad.mit.edu	37	11	62295549	62295549	+	Missense_Mutation	SNP	C	C	T	rs1298288	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:62295549C>T	ENST00000378024.4	-	5	6614	c.6340G>A	c.(6340-6342)Gcc>Acc	p.A2114T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2114			A -> T (in dbSNP:rs1298288).		protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTGGGGGCCTTGAAGTGC	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6340-6342)Gcc>Acc		AHNAK nucleoprotein							189.0	200.0	196.0					11																	62295549		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295549C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6340G>A	11.37:g.62295549C>T	ENSP00000367263:p.Ala2114Thr					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A2114T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6614	-		Melanoma(852;0.155)	2114		A -> T (in dbSNP:rs1298288).			A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6340G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.044	-1.273123	0.01421	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00912	5.55	3.66	-5.3	0.02738	.	.	.	.	.	T	0.01287	0.0042	L	0.48986	1.54	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.22312	-1.0220	9	0.46703	T	0.11	.	14.1474	0.65360	0.0:0.6689:0.0:0.3311	rs1298288	2114	Q09666	AHNK_HUMAN	T	203;2114	ENSP00000367263:A2114T	ENSP00000244934:A203T	A	-	1	0	AHNAK	62052125	0.000000	0.05858	0.032000	0.17829	0.480000	0.33159	-3.861000	0.00348	-1.808000	0.01234	-1.902000	0.00527	GCC		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		11	1371	0	0	0	1	0	11	1371				
MYO18B	84700	broad.mit.edu	37	22	26423013	26423013	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:26423013G>T	ENST00000407587.2	+	43	7245	c.7076G>T	c.(7075-7077)aGa>aTa	p.R2359I	MYO18B_ENST00000335473.7_Missense_Mutation_p.R2358I|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2358I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2358						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTAGAATCCAGACCGAGCATG	0.567																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7072-7074)aGa>aTa		myosin XVIIIB							91.0	99.0	97.0					22																	26423013		1953	4143	6096	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423013G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7076G>T	22.37:g.26423013G>T	ENSP00000386096:p.Arg2359Ile					MYO18B_ENST00000407587.2_Missense_Mutation_p.R2359I|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2358I	p.R2358I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7323	+			2358					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7073G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.108|4.108	0.018192|0.018192	0.07959|0.07959	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86030	.|-2.04;-2.04;-2.06	4.41|4.41	1.81|1.81	0.25067|0.25067	.|.	.|0.581064	.|0.14856	.|N	.|0.294341	T|T	0.68183|0.68183	0.2973|0.2973	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.23442	.|0.05;0.051;0.051;0.085;0.085	.|B;B;B;B;B	.|0.21917	.|0.023;0.016;0.016;0.037;0.037	T|T	0.60464|0.60464	-0.7258|-0.7258	5|10	.|0.56958	.|D	.|0.05	.|.	6.6697|6.6697	0.23062|0.23062	0.1122:0.3446:0.5432:0.0|0.1122:0.3446:0.5432:0.0	.|.	.|1871;2360;2358;2359;2358	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	Y|I	308|2358;2358;2359	.|ENSP00000441229:R2358I;ENSP00000334563:R2358I;ENSP00000386096:R2359I	.|ENSP00000334563:R2358I	D|R	+|+	1|2	0|0	MYO18B|MYO18B	24753013|24753013	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.068000|0.068000	0.16541|0.16541	1.258000|1.258000	0.32944|0.32944	0.816000|0.816000	0.34421|0.34421	-0.502000|-0.502000	0.04539|0.04539	GAC|AGA		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		161	164	1	0	2.32774e-83	1	2.59226e-83	161	164				
TACR3	6870	broad.mit.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T	rs553885967		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498																																						ENST00000304883.2																			1	Substitution - Missense(1)	p.V403M(1)	prostate(1)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1207-1209)Gtg>Atg		tachykinin receptor 3							235.0	217.0	223.0					4																	104511030		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104511030C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1207G>A	4.37:g.104511030C>T	ENSP00000303325:p.Val403Met					RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	p.V403M	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1347	-		Hepatocellular(203;0.217)	403					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1207G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491957	0.64074	.	.	ENSG00000169836	ENST00000304883	T	0.65732	-0.17	5.81	5.81	0.92471	.	0.070759	0.64402	D	0.000020	T	0.64427	0.2597	M	0.75447	2.3	0.46061	D	0.998848	D	0.53462	0.96	B	0.39465	0.3	T	0.71052	-0.4704	10	0.54805	T	0.06	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	403	P29371	NK3R_HUMAN	M	403	ENSP00000303325:V403M	ENSP00000303325:V403M	V	-	1	0	TACR3	104730479	0.958000	0.32768	0.981000	0.43875	0.972000	0.66771	1.867000	0.39499	2.746000	0.94184	0.591000	0.81541	GTG		0.498	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		265	563	0	0	0	1	0	265	563				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		12	808	0	0	0	1	0	12	808				
TSC2	7249	broad.mit.edu	37	16	2115574	2115574	+	Missense_Mutation	SNP	G	G	A	rs137854159		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:2115574G>A	ENST00000219476.3	+	16	2284	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	TSC2_ENST00000401874.2_Missense_Mutation_p.A552T|TSC2_ENST00000350773.4_Missense_Mutation_p.A552T|TSC2_ENST00000568454.1_Missense_Mutation_p.A563T|TSC2_ENST00000382538.6_Missense_Mutation_p.A503T|TSC2_ENST00000353929.4_Missense_Mutation_p.A552T|TSC2_ENST00000439673.2_Missense_Mutation_p.A515T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	552					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.A552T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGATGTGGCCGCATACTCGGC	0.622			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			1	Substitution - Missense(1)	p.A552T(1)	central_nervous_system(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(1654-1656)Gca>Aca		tuberous sclerosis 2							105.0	113.0	110.0					16																	2115574		2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2115574G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1654G>A	16.37:g.2115574G>A	ENSP00000219476:p.Ala552Thr					TSC2_ENST00000439673.2_Missense_Mutation_p.A515T|TSC2_ENST00000568454.1_Missense_Mutation_p.A563T|TSC2_ENST00000382538.6_Missense_Mutation_p.A503T|TSC2_ENST00000401874.2_Missense_Mutation_p.A552T|TSC2_ENST00000350773.4_Missense_Mutation_p.A552T|TSC2_ENST00000353929.4_Missense_Mutation_p.A552T	p.A552T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			16	2284	+		Hepatocellular(780;0.0202)	552					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1654G>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	g	9.908	1.208749	0.22205	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.89050	-2.41;-2.37;-2.37;-2.46;-2.42;-2.4	5.46	2.03	0.26663	Armadillo-type fold (1);	0.566436	0.19631	N	0.109677	T	0.75162	0.3812	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.30281	0.175;0.275;0.014;0.275;0.236;0.198	B;B;B;B;B;B	0.29663	0.105;0.093;0.01;0.093;0.049;0.058	T	0.61840	-0.6980	10	0.21540	T	0.41	-5.6476	6.7396	0.23428	0.0917:0.0:0.4303:0.4781	.	503;515;552;552;552;552	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	T	552;552;552;515;503;552	ENSP00000219476:A552T;ENSP00000384468:A552T;ENSP00000248099:A552T;ENSP00000399232:A515T;ENSP00000371978:A503T;ENSP00000344383:A552T	ENSP00000219476:A552T	A	+	1	0	TSC2	2055575	0.287000	0.24315	0.001000	0.08648	0.009000	0.06853	1.799000	0.38824	0.609000	0.30018	0.561000	0.74099	GCA		0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		7	911	0	0	0	1	0	7	911				
NOX1	27035	broad.mit.edu	37	X	100118509	100118509	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:100118509G>A	ENST00000372966.3	-	3	422	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	NOX1_ENST00000217885.5_Missense_Mutation_p.R73C|NOX1_ENST00000372964.1_Missense_Mutation_p.R73C|NOX1_ENST00000372960.4_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	73	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGCAGATTGCGACACACAGGA	0.517																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(217-219)Cgc>Tgc		NADPH oxidase 1							99.0	76.0	84.0					X																	100118509		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100118509G>A	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.217C>T	X.37:g.100118509G>A	ENSP00000362057:p.Arg73Cys					NOX1_ENST00000372960.4_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.R73C|NOX1_ENST00000372964.1_Missense_Mutation_p.R73C	p.R73C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			3	422	-			73			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.217C>T	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422237	0.25639	.	.	ENSG00000007952	ENST00000372966;ENST00000372964;ENST00000372961;ENST00000217885	D;D;D	0.99803	-4.9;-6.82;-5.03	3.91	0.862	0.19056	Flavoprotein transmembrane component (1);	0.136302	0.47852	D	0.000201	D	0.99771	0.9906	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98834	1.0752	10	0.87932	D	0	-0.0256	5.4438	0.16523	0.2038:0.0:0.6362:0.16	.	73;73	Q9Y5S8-3;Q9Y5S8	.;NOX1_HUMAN	C	73	ENSP00000362057:R73C;ENSP00000362055:R73C;ENSP00000217885:R73C	ENSP00000217885:R73C	R	-	1	0	NOX1	100005165	1.000000	0.71417	0.411000	0.26484	0.070000	0.16714	2.963000	0.49184	0.289000	0.22422	0.594000	0.82650	CGC		0.517	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		69	152	0	0	0	1	0	69	152				
COL1A2	1278	broad.mit.edu	37	7	94040236	94040236	+	Silent	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:94040236T>C	ENST00000297268.6	+	22	1704	c.1233T>C	c.(1231-1233)gaT>gaC	p.D411D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	411					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGAGCTGATGGCAGAGCTG	0.463										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(1231-1233)gaT>gaC		collagen, type I, alpha 2	Collagenase(DB00048)						156.0	151.0	153.0					7																	94040236		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94040236T>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1233T>C	7.37:g.94040236T>C		HNSCC(75;0.22)					p.D411D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		22	1704	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		411					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.1233T>C	CCDS34682.1																																																																																				0.463	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		143	287	0	0	0	1	0	143	287				
ZNF283	284349	broad.mit.edu	37	19	44351438	44351438	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:44351438C>T	ENST00000324461.7	+	7	982	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H90Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAGAGAACTCATACAGCTGA	0.368																																						ENST00000324461.7																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(685-687)Cat>Tat		zinc finger protein 283							61.0	67.0	65.0					19																	44351438		2103	4259	6362	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44351438C>T	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.685C>T	19.37:g.44351438C>T	ENSP00000327314:p.His229Tyr					ZNF283_ENST00000588797.1_Missense_Mutation_p.H90Y	p.H229Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN			7	982	+		Prostate(69;0.0352)	229					B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.685C>T	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878023	0.51801	.	.	ENSG00000167637	ENST00000324461	T	0.67523	-0.27	3.58	2.5	0.30297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80396	0.4615	M	0.92268	3.29	0.80722	D	1	D	0.61697	0.99	P	0.57057	0.812	T	0.82206	-0.0572	9	0.66056	D	0.02	.	9.3577	0.38177	0.0:0.8889:0.0:0.1111	.	229	Q8N7M2	ZN283_HUMAN	Y	229	ENSP00000327314:H229Y	ENSP00000327314:H229Y	H	+	1	0	ZNF283	49043278	0.129000	0.22400	0.854000	0.33618	0.826000	0.46750	1.563000	0.36364	0.813000	0.34350	0.563000	0.77884	CAT		0.368	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		177	152	0	0	0	1	0	177	152				
MYLK	4638	broad.mit.edu	37	3	123385147	123385147	+	Silent	SNP	G	G	A	rs201873975		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:123385147G>A	ENST00000475616.1	-	19	3749	c.3750C>T	c.(3748-3750)cgC>cgT	p.R1250R	MYLK_ENST00000359169.1_Silent_p.R1250R|MYLK_ENST00000354792.5_Silent_p.R50R|MYLK_ENST00000360304.3_Silent_p.R1250R|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360772.3_Silent_p.R1250R|MYLK_ENST00000346322.5_Silent_p.R1181R			Q15746	MYLK_HUMAN	myosin light chain kinase	1250	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACTCTCCTGCGCGTACCTTCT	0.562																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3748-3750)cgC>cgT		myosin light chain kinase							111.0	81.0	91.0					3																	123385147		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123385147G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3750C>T	3.37:g.123385147G>A						MYLK_ENST00000360304.3_Silent_p.R1250R|MYLK_ENST00000359169.1_Silent_p.R1250R|MYLK_ENST00000354792.5_Silent_p.R50R|MYLK_ENST00000346322.5_Silent_p.R1181R|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000475616.1_Silent_p.R1250R	p.R1250R			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	23	4128	-		Lung NSC(201;0.0496)	1250			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3750C>T	CCDS46896.1																																																																																				0.562	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		92	164	0	0	0	1	0	92	164				
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000537199.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			2	Substitution - Missense(2)	p.P566H(2)	urinary_tract(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1696-1698)cCt>cAt		serine/arginine repetitive matrix 1							53.0	45.0	48.0					1																	24993374		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993374C>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1697C>A	1.37:g.24993374C>A	ENSP00000326261:p.Pro566His					SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000479034.1_3'UTR	p.P566H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	2012	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	566			Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1697C>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173271	0.78452	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56776	0.44;0.65;0.71	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.70613	0.3244	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.68074	-0.5505	10	0.42905	T	0.14	-3.0627	19.3453	0.94361	0.0:1.0:0.0:0.0	.	578;566	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	H	566;578;575	ENSP00000326261:P566H;ENSP00000391430:P578H;ENSP00000363510:P575H	ENSP00000326261:P566H	P	+	2	0	SRRM1	24865961	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.865000	0.62998	2.654000	0.90174	0.650000	0.86243	CCT		0.542	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		5	182	1	0	2.7689e-08	1	2.88672e-08	5	182				
KRTAP10-3	386682	broad.mit.edu	37	21	45978218	45978218	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr21:45978218G>A	ENST00000391620.1	-	1	425	c.381C>T	c.(379-381)ccC>ccT	p.P127P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	127	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CAGAgcagacgggcacacagc	0.657																																						ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(379-381)ccC>ccT		keratin associated protein 10-3							161.0	162.0	162.0					21																	45978218		2203	4300	6503	SO:0001819	synonymous_variant	386682					keratin filament		g.chr21:45978218G>A	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.381C>T	21.37:g.45978218G>A						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.P127P	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	425	-			127			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	37	c.381C>T	CCDS42956.1																																																																																				0.657	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			6	941	0	0	0	1	0	6	941				
PCDHA12	56137	broad.mit.edu	37	5	140257253	140257253	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:140257253C>T	ENST00000398631.2	+	1	2196	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	732					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCGGTGCGCGCCGGGCA	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(2194-2196)tgC>tgT									27.0	27.0	27.0					5																	140257253		2201	4298	6499	SO:0001819	synonymous_variant	0							g.chr5:140257253C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2196C>T	5.37:g.140257253C>T						PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	p.C732C	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2196	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.2196C>T	CCDS47285.1																																																																																				0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		72	127	0	0	0	1	0	72	127				
CHD9	80205	broad.mit.edu	37	16	53265573	53265573	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:53265573C>G	ENST00000398510.3	+	9	2475	c.2388C>G	c.(2386-2388)taC>taG	p.Y796*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.Y796*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	796	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTATTTACTACTTAGTAAAAT	0.294																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(2386-2388)taC>taG		chromodomain helicase DNA binding protein 9							40.0	37.0	38.0					16																	53265573		1791	4056	5847	SO:0001587	stop_gained	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53265573C>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2388C>G	16.37:g.53265573C>G	ENSP00000381522:p.Tyr796*					CHD9_ENST00000564845.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.Y796*	p.Y796*			Q3L8U1	CHD9_HUMAN			10	2597	+		all_cancers(37;0.0212)	796			Chromo 2.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	ENST00000398510.3	37	c.2388C>G		.	.	.	.	.	.	.	.	.	.	C	41	8.572997	0.98868	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	.	.	.	5.3	4.35	0.52113	.	0.000000	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0301	8.9015	0.35497	0.0:0.783:0.0:0.217	.	.	.	.	X	796;796;322	.	ENSP00000219084:Y322X	Y	+	3	2	CHD9	51823074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.904000	0.28491	1.240000	0.43803	0.655000	0.94253	TAC		0.294	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		31	73	0	0	0	1	0	31	73				
ADAM21P1	145241	broad.mit.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACCACTTCCAGGGAAGTGAA	0.527													G|||	786	0.156949	0.1505	0.085	5008	,	,		20010	0.2907		0.1262	False		,,,				2504	0.1104					ENST00000530196.1																			0																																																			0							g.chr14:70714259A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714259A>G								NR_003951.1						0	259	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.527	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		7	321	0	0	0	1	0	7	321				
KCNA6	3742	broad.mit.edu	37	12	4920048	4920048	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:4920048C>T	ENST00000280684.3	+	1	1707	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	KCNA6_ENST00000433855.1_Missense_Mutation_p.R281C|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	281					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCTCCTGGTGCGCTTCTCCGC	0.542										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(841-843)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, member 6							89.0	83.0	85.0					12																	4920048		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920048C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.841C>T	12.37:g.4920048C>T	ENSP00000280684:p.Arg281Cys	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.R281C	p.R281C	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1707	+			281						Missense_Mutation	SNP	ENST00000280684.3	37	c.841C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560274	0.65538	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.98732	-5.1;-5.1	5.28	5.28	0.74379	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.99847	4.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97514	1.0068	10	0.87932	D	0	.	13.0973	0.59200	0.16:0.84:0.0:0.0	.	281	P17658	KCNA6_HUMAN	C	281	ENSP00000408321:R281C;ENSP00000280684:R281C	ENSP00000280684:R281C	R	+	1	0	KCNA6	4790309	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.317000	0.43770	2.746000	0.94184	0.655000	0.94253	CGC		0.542	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		168	801	0	0	0	1	0	168	801				
GOLGA3	2802	broad.mit.edu	37	12	133384969	133384969	+	Missense_Mutation	SNP	G	G	A	rs540458037		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:133384969G>A	ENST00000450791.2	-	4	869	c.686C>T	c.(685-687)cCg>cTg	p.P229L	GOLGA3_ENST00000537452.1_Missense_Mutation_p.P229L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.P229L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.P229L|GOLGA3_ENST00000204726.3_Missense_Mutation_p.P229L			Q08378	GOGA3_HUMAN	golgin A3	229	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGGATGTGCCGGAAGCCCCAG	0.512																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(685-687)cCg>cTg		golgin A3							139.0	161.0	153.0					12																	133384969		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384969G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.686C>T	12.37:g.133384969G>A	ENSP00000410378:p.Pro229Leu					GOLGA3_ENST00000450791.2_Missense_Mutation_p.P229L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.P229L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P229L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.P229L	p.P229L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1244	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	229			Golgi-targeting domain.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.686C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	0.078	-1.188375	0.01607	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.34	2.73	0.32206	.	0.159337	0.56097	N	0.000025	T	0.07728	0.0194	N	0.01146	-0.985	0.80722	D	1	B;B;B	0.16802	0.004;0.002;0.019	B;B;B	0.15484	0.003;0.003;0.013	T	0.27400	-1.0075	10	0.02654	T	1	.	6.1621	0.20370	0.6192:0.0:0.3808:0.0	.	229;229;229	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	L	229	ENSP00000204726:P229L;ENSP00000410378:P229L;ENSP00000409303:P229L;ENSP00000442143:P229L;ENSP00000442603:P229L	ENSP00000204726:P229L	P	-	2	0	GOLGA3	131895042	1.000000	0.71417	0.992000	0.48379	0.081000	0.17604	3.241000	0.51376	0.981000	0.38548	-0.482000	0.04802	CCG		0.512	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		6	680	0	0	0	1	0	6	680				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			6	304	1	0	3.09899e-07	1	3.2081e-07	6	304				
ATF4P4	100127952	broad.mit.edu	37	11	113661207	113661207	+	RNA	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:113661207G>A	ENST00000393544.2	+	0	1255									activating transcription factor 4 pseudogene 4																		AGGCTAAGGCGGGCTTCTCCG	0.542																																						ENST00000393544.2																			0																																																			0							g.chr11:113661207G>A			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661207G>A														0	1255	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.542	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		82	139	0	0	0	1	0	82	139				
TUBB8	347688	broad.mit.edu	37	10	93373	93373	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:93373C>T	ENST00000309812.4	-	4	1021	c.959G>A	c.(958-960)cGc>cAc	p.R320H	TUBB8_ENST00000447903.2_Missense_Mutation_p.R248H|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	320					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATGGGCATGCGACCCCTGAA	0.522																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(742-744)cGc>cAc		tubulin, beta 8 class VIII							54.0	65.0	61.0					10																	93373		2105	4119	6224	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93373C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.959G>A	10.37:g.93373C>T	ENSP00000311042:p.Arg320His					TUBB8_ENST00000309812.4_Missense_Mutation_p.R320H	p.R248H			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	1058	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	320					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.743G>A	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720943	0.15372	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	D	0.84298	-1.83	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.092545	0.43260	N	0.000593	T	0.80497	0.4634	M	0.71206	2.165	0.37650	D	0.922361	B;B	0.19817	0.004;0.039	B;B	0.15052	0.002;0.012	T	0.74188	-0.3746	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	283;320	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	H	248;286;283;320	ENSP00000403895:R248H	ENSP00000272035:R286H	R	-	2	0	RP11-631M21.2	83373	1.000000	0.71417	0.129000	0.21949	0.130000	0.20726	3.697000	0.54764	0.119000	0.18210	0.121000	0.15741	CGC		0.522	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		5	506	0	0	0	1	0	5	506				
ATP2B2	491	broad.mit.edu	37	3	10452493	10452493	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:10452493G>A	ENST00000352432.4	-	2	275	c.206C>T	c.(205-207)cCg>cTg	p.P69L	ATP2B2_ENST00000397077.1_Missense_Mutation_p.P69L|ATP2B2_ENST00000383800.4_Missense_Mutation_p.P69L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.P69L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.P69L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	69					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGCGGTGCCCGGCAAACCTGT	0.527																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(205-207)cCg>cTg		ATPase, Ca++ transporting, plasma membrane 2							95.0	116.0	109.0					3																	10452493		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452493G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.206C>T	3.37:g.10452493G>A	ENSP00000324172:p.Pro69Leu					ATP2B2_ENST00000352432.4_Missense_Mutation_p.P69L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.P69L|ATP2B2_ENST00000383800.4_Missense_Mutation_p.P69L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.P69L	p.P69L			Q01814	AT2B2_HUMAN			5	781	-			69					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.206C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595828	0.46318	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	D;D;D;D;D	0.91740	-2.9;-2.89;-2.89;-2.9;-2.9	5.66	4.79	0.61399	ATPase, P-type cation-transporter, N-terminal (2);	0.296971	0.36268	N	0.002693	D	0.88032	0.6328	L	0.28649	0.875	0.49130	D	0.999755	B;B;B	0.30281	0.275;0.185;0.039	B;B;B	0.29862	0.048;0.108;0.029	D	0.86527	0.1819	10	0.72032	D	0.01	-22.5398	16.7436	0.85466	0.0:0.1292:0.8708:0.0	.	69;81;69	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	L	69;69;69;69;69;35;69	ENSP00000324172:P69L;ENSP00000373311:P69L;ENSP00000380267:P69L;ENSP00000353414:P69L;ENSP00000344677:P69L	ENSP00000342954:P69L	P	-	2	0	ATP2B2	10427493	1.000000	0.71417	0.878000	0.34440	0.911000	0.54048	3.941000	0.56607	1.392000	0.46585	0.561000	0.74099	CCG		0.527	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		6	630	0	0	0	1	0	6	630				
OR2M4	26245	broad.mit.edu	37	1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	rs144697226	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T267M(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517													t|||	11	0.00219649	0.0045	0.0014	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.0041					ENST00000306687.1																			2	Substitution - Missense(2)	p.T267M(2)	large_intestine(1)|endometrium(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(799-801)aCg>aTg		olfactory receptor, family 2, subfamily M, member 4		T	MET/THR	29,4377	823.6+/-416.5	0,29,2174	131.0	113.0	119.0		800	1.4	0.0	1	dbSNP_134	119	1,8599	819.2+/-406.8	0,1,4299	yes	missense	OR2M4	NM_017504.1	81	0,30,6473	TT,TC,CC		0.0116,0.6582,0.2307	probably-damaging	267/312	248403030	30,12976	2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403030C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.800C>T	1.37:g.248403030C>T	ENSP00000306688:p.Thr267Met						p.T267M	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	800	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		267					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.800C>T	CCDS31108.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	t	7.287	0.610196	0.14066	0.006582	1.16E-4	ENSG00000171180	ENST00000306687	T	0.00130	8.69	3.34	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	2.248960	0.02593	N	0.100179	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.50742	-0.8792	10	0.72032	D	0.01	.	3.4528	0.07505	0.298:0.4908:0.0:0.2112	.	267	Q96R27	OR2M4_HUMAN	M	267	ENSP00000306688:T267M	ENSP00000306688:T267M	T	+	2	0	OR2M4	246469653	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.096000	0.11059	0.238000	0.21222	-1.215000	0.01618	ACG		0.517	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		110	254	0	0	0	1	0	110	254				
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C	rs371946225	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522																																						ENST00000550753.1																			0																																																			0							g.chr16:22588087G>C																													16.37:g.22588087G>C								NR_003676.2						0	2562	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.522	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			4	72	0	0	0	1	0	4	72				
KRTAP5-10	387273	broad.mit.edu	37	11	71276932	71276932	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:71276932C>G	ENST00000398531.1	+	1	324	c.299C>G	c.(298-300)tCc>tGc	p.S100C	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	100	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTGGGGGCTCCAAGGGGGGC	0.692																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(298-300)tCc>tGc		keratin associated protein 5-10							34.0	52.0	46.0					11																	71276932		2100	4235	6335	SO:0001583	missense	387273					keratin filament		g.chr11:71276932C>G	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.299C>G	11.37:g.71276932C>G	ENSP00000381542:p.Ser100Cys					KRTAP5-10_ENST00000376536.4_Intron	p.S100C	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	324	+			100			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Missense_Mutation	SNP	ENST00000398531.1	37	c.299C>G	CCDS41684.1	.	.	.	.	.	.	.	.	.	.	.	0.546	-0.851615	0.02651	.	.	ENSG00000204572	ENST00000398531	T	0.01119	5.31	1.85	-0.352	0.12598	.	.	.	.	.	T	0.00998	0.0033	N	0.16233	0.39	0.22142	N	0.999336	B	0.02656	0.0	B	0.01281	0.0	T	0.45483	-0.9258	9	0.54805	T	0.06	.	9.998	0.41911	0.0:0.6976:0.3024:0.0	.	100	Q6L8G5	KR510_HUMAN	C	100	ENSP00000381542:S100C	ENSP00000381542:S100C	S	+	2	0	KRTAP5-10	70954580	0.000000	0.05858	0.014000	0.15608	0.004000	0.04260	-3.273000	0.00531	-0.055000	0.13244	0.184000	0.17185	TCC		0.692	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			7	464	0	0	0	1	0	7	464				
ATRN	8455	broad.mit.edu	37	20	3562887	3562887	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:3562887C>T	ENST00000262919.5	+	16	2718	c.2650C>T	c.(2650-2652)Ccg>Tcg	p.P884S	ATRN_ENST00000446916.2_Missense_Mutation_p.P884S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	884	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ACAGTGGATGCCGTCTGAGCC	0.498																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2650-2652)Ccg>Tcg		attractin							111.0	103.0	106.0					20																	3562887		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3562887C>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2650C>T	20.37:g.3562887C>T	ENSP00000262919:p.Pro884Ser					ATRN_ENST00000446916.2_Missense_Mutation_p.P884S	p.P884S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			16	2718	+			884			C-type lectin.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.2650C>T	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868766	0.91587	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.56444	0.46;0.46	5.37	5.37	0.77165	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.109437	0.64402	D	0.000005	T	0.66096	0.2755	L	0.60067	1.865	0.80722	D	1	D;D	0.63046	0.983;0.992	P;P	0.58454	0.839;0.755	T	0.64058	-0.6496	10	0.38643	T	0.18	-4.6819	18.7331	0.91742	0.0:1.0:0.0:0.0	.	884;884	O75882;O75882-2	ATRN_HUMAN;.	S	884;884;810	ENSP00000262919:P884S;ENSP00000416587:P884S	ENSP00000262919:P884S	P	+	1	0	ATRN	3510887	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.763000	0.85283	2.504000	0.84457	0.650000	0.86243	CCG		0.498	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		5	431	0	0	0	1	0	5	431				
LILRA2	11027	broad.mit.edu	37	19	55087004	55087004	+	Missense_Mutation	SNP	G	G	A	rs145854955	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:55087004G>A	ENST00000251377.3	+	6	1070	c.937G>A	c.(937-939)Gac>Aac	p.D313N	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.D301N|LILRA2_ENST00000251376.3_Missense_Mutation_p.D313N|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.D313N|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	313	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCCCCTGGACATCCTGAT	0.662																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(937-939)Gac>Aac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2		G	ASN/ASP,ASN/ASP	2,4396		0,2,2197	34.0	40.0	38.0		937,937	1.8	0.0	19	dbSNP_134	38	2,8584		0,2,4291	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	23,23	0,4,6488	AA,AG,GG		0.0233,0.0455,0.0308	,	313/484,313/467	55087004	4,12980	2199	4293	6492	SO:0001583	missense	0							g.chr19:55087004G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.937G>A	19.37:g.55087004G>A	ENSP00000251377:p.Asp313Asn					LILRA2_ENST00000251376.3_Missense_Mutation_p.D313N|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.D313N|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.D301N|LILRB1_ENST00000396321.2_Intron	p.D313N						GBM - Glioblastoma multiforme(193;0.0963)	6	1070	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.937G>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274186	0.59649	4.55E-4	2.33E-4	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	2.92	1.81	0.25067	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.436516	0.16910	N	0.194525	T	0.29652	0.0740	M	0.83223	2.63	0.09310	N	0.999998	P;B;P;D	0.76494	0.748;0.148;0.525;0.999	B;B;P;D	0.70016	0.444;0.232;0.521;0.967	T	0.03443	-1.1036	10	0.51188	T	0.08	.	7.5552	0.27820	0.0:0.2858:0.7142:0.0	.	313;301;313;313	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	N	313;313;313;313;301	ENSP00000388131:D313N;ENSP00000251377:D313N;ENSP00000375618:D313N;ENSP00000251376:D313N;ENSP00000375617:D301N	ENSP00000251376:D313N	D	+	1	0	LILRA2	59778816	0.000000	0.05858	0.015000	0.15790	0.555000	0.35460	-0.425000	0.07017	0.513000	0.28278	0.502000	0.49764	GAC		0.662	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			6	284	0	0	0	1	0	6	284				
SLC8A3	6547	broad.mit.edu	37	14	70517819	70517819	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:70517819C>T	ENST00000381269.2	-	6	2790	c.2037G>A	c.(2035-2037)acG>acA	p.T679T	SLC8A3_ENST00000534137.1_Silent_p.T676T|SLC8A3_ENST00000357887.3_Silent_p.T677T|SLC8A3_ENST00000394330.2_Silent_p.T36T|SLC8A3_ENST00000216568.7_Silent_p.T50T|SLC8A3_ENST00000528359.1_Silent_p.T677T|SLC8A3_ENST00000533541.1_Silent_p.T36T|SLC8A3_ENST00000356921.2_Silent_p.T673T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	679					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTTTGTCCACCGTAGTCTGTT	0.488																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(2035-2037)acG>acA		solute carrier family 8 (sodium/calcium exchanger), member 3							117.0	86.0	97.0					14																	70517819		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70517819C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2037G>A	14.37:g.70517819C>T						SLC8A3_ENST00000528359.1_Silent_p.T677T|SLC8A3_ENST00000533541.1_Silent_p.T36T|SLC8A3_ENST00000216568.7_Silent_p.T50T|SLC8A3_ENST00000356921.2_Silent_p.T673T|SLC8A3_ENST00000357887.3_Silent_p.T677T|SLC8A3_ENST00000534137.1_Silent_p.T676T|SLC8A3_ENST00000394330.2_Silent_p.T36T	p.T679T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	6	2790	-			679					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.2037G>A	CCDS35498.1																																																																																				0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			93	83	0	0	0	1	0	93	83				
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:72209576C>G	ENST00000435769.2	-	0	1089				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CTCGGAGCATCGACTATGACA	0.413																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							233.0	179.0	195.0					7																	72209576		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72209576C>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72209576C>G										Q6NUM6	TYW1B_HUMAN			0	579	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		5	295	0	0	0	1	0	5	295				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	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_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_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	727	0	0	0	1	0	8	727				
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:6536011_6536013delCTC	ENST00000400915.3	-	4	361_363	c.295_297delGAG	c.(295-297)gagdel	p.E99del	PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377748.1_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377748.1																			0				liver(1)	1						c.(358-360)del		pleckstrin homology domain containing, family G (with RhoGef domain) member 5																																				SO:0001651	inframe_deletion	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6536011_6536013delCTC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.295_297delGAG	1.37:g.6536020_6536022delCTC	ENSP00000383706:p.Glu99del		OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	634	PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del	p.E120del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	4	855_857	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	99					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	In_Frame_Del	DEL	ENST00000400915.3	37	c.358_360delGAG	CCDS41241.1																																																																																				0.631	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		7	321						7	321	---	---	---	---
TNFRSF8	943	broad.mit.edu	37	1	12170175	12170176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:12170175_12170176insC	ENST00000263932.2	+	6	812_813	c.590_591insC	c.(589-594)ggcaccfs	p.T198fs	TNFRSF8_ENST00000417814.2_Frame_Shift_Ins_p.T87fs	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	198					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GTAAGAGGGGGCACCCGCCTCG	0.624																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(589-591)gacfs		tumor necrosis factor receptor superfamily, member 8																																				SO:0001589	frameshift_variant	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12170175_12170176insC	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.591dupC	1.37:g.12170176_12170176dupC	ENSP00000263932:p.Thr198fs					TNFRSF8_ENST00000417814.2_Frame_Shift_Ins_p.D86fs	p.D197fs	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	6	812_813	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	197					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Frame_Shift_Ins	INS	ENST00000263932.2	37	c.590_591insC	CCDS144.1																																																																																				0.624	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			7	205						7	205	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	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		8	377						8	377	---	---	---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406																																						ENST00000372766.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(43-45)tfs		transmembrane and coiled-coil domains 2																																				SO:0001589	frameshift_variant	127391					integral to membrane		g.chr1:40713708_40713709delTC	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.43_44delTC	1.37:g.40713718_40713719delTC	ENSP00000361852:p.Ser15fs					TMCO2_ENST00000468258.1_Intron	p.S15fs	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	136_137	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	15						Frame_Shift_Del	DEL	ENST00000372766.3	37	c.43_44delTC	CCDS30684.1																																																																																				0.406	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		10	665						10	665	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		9	257						9	257	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		1	Insertion - Frameshift(1)	p.I46fs*4(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(136-138)tafs		B-cell CLL/lymphoma 10							83.0	90.0	87.0					1																	85736511		2203	4300	6503	SO:0001589	frameshift_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736511delT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.136delA	1.37:g.85736511delT	ENSP00000359612:p.Ile46fs						p.I46fs	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	873	-			46			CARD.		Q5VUF1	Frame_Shift_Del	DEL	ENST00000370580.1	37	c.136delA	CCDS704.1																																																																																				0.343	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		9	376						9	376	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142716575	142716578	+	lincRNA	DEL	AAAC	AAAC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:142716575_142716578delAAAC	ENST00000610091.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422																																						ENST00000595144.1																			0																																																			0							g.chr1:142716575_142716578delAAAC																													1.37:g.142716583_142716586delAAAC														0	418	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.422	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			7	361						7	361	---	---	---	---
LOC101927648	101927648	broad.mit.edu	37	1	143375293	143375294	+	lincRNA	DEL	TT	TT	-	rs143007968|rs148555588|rs6604366		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:143375293_143375294delTT	ENST00000428624.1	+	0	0				RP11-435B5.3_ENST00000430699.1_lincRNA|RP11-435B5.4_ENST00000423249.1_lincRNA																							CCTATAGCAGtttttttttttt	0.371																																						ENST00000431621.1																			0																																																			0							g.chr1:143375293_143375294delTT																													1.37:g.143375303_143375304delTT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	523	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.371	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			7	66						7	66	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	659						7	659	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2734-2736)del		trichohyalin																																				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082957_152082959delCTC	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.2734_2736delGAG	1.37:g.152082966_152082968delCTC	ENSP00000357794:p.Glu912del						p.E912del	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2733_2735	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			10 X 30 AA tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.2734_2736delGAG	CCDS41396.1																																																																																				0.586	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		18	1143						18	1143	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152083468	152083469	+	Frame_Shift_Ins	INS	-	-	G	rs368293517		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:152083468_152083469insG	ENST00000368804.1	-	2	2223_2224	c.2224_2225insC	c.(2224-2226)cggfs	p.R742fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	742					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)			CTCACTCTCCCGGCGCCGCCTC	0.653																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2224-2226)ggafs		trichohyalin																																				SO:0001589	frameshift_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083468_152083469insG	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.2225dupC	1.37:g.152083470_152083470dupG	ENSP00000357794:p.Arg742fs						p.G742fs	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2223_2224	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		742					Q5VUI3	Frame_Shift_Ins	INS	ENST00000368804.1	37	c.2224_2225insC	CCDS41396.1																																																																																				0.653	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	1232						7	1232	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						ENST00000388718.5																			1	Deletion - Frameshift(1)	p.H1901fs*30(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5701-5706)cagcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	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.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.HS1901fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5775_5776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		16	1317						16	1317	---	---	---	---
LCE1F	353137	broad.mit.edu	37	1	152749003	152749008	+	In_Frame_Del	DEL	TGGCTC	TGGCTC	-	rs544759833|rs200931119	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:152749003_152749008delTGGCTC	ENST00000334371.2	+	1	156_161	c.156_161delTGGCTC	c.(154-162)tgtggctcc>tgc	p.GS53del		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	53					keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGCTGCTGTGGCTCCAGCTCTGGG	0.68														25	0.00499201	0.0008	0.0058	5008	,	,		15823	0.002		0.001	False		,,,				2504	0.0174					ENST00000334371.2																			0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(154-162)tgc>tg		late cornified envelope 1F				13,4251		0,13,2119						2.4	0.8			40	164,8090		0,164,3963	no	coding	LCE1F	NM_178354.2		0,177,6082	A1A1,A1R,RR		1.9869,0.3049,1.414				177,12341				SO:0001651	inframe_deletion	353137				keratinization			g.chr1:152749003_152749008delTGGCTC		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.156_161delTGGCTC	1.37:g.152749003_152749008delTGGCTC	ENSP00000334187:p.Gly53_Ser54del						p.CGS52del	NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	156_161	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		52						In_Frame_Del	DEL	ENST00000334371.2	37	c.156_161delTGGCTC	CCDS1023.1																																																																																				0.680	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		10	480						10	480	---	---	---	---
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1134)gtccccfs	p.VP377fs	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.53			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	1	Insertion - Frameshift(1)	p.Q380fs*12(1)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1129-1131)gccfs		papillary renal cell carcinoma (translocation-associated)				24,4242		0,24,2109						4.4	0.9			74	14,8240		0,14,4113	no	frameshift	PRCC	NM_005973.4		0,38,6222	A1A1,A1R,RR		0.1696,0.5626,0.3035				38,12482				SO:0001589	frameshift_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156761535_156761536insC	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1138dupC	1.37:g.156761543_156761543dupC	ENSP00000271526:p.Val377fs					PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR	p.A377fs	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			4	1402_1403	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		377					A8K1F7|O00665|O00724|Q5SZ06	Frame_Shift_Ins	INS	ENST00000271526.4	37	c.1130_1131insC	CCDS1157.1																																																																																				0.530	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		8	508						8	508	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169833511	169833511	+	Splice_Site	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:169833511delT	ENST00000367770.1	-	8	1001	c.954delA	c.(952-954)aaa>aa	p.K318fs	SCYL3_ENST00000367771.6_Splice_Site_p.K318fs|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Splice_Site_p.K318fs			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	318					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e9+1		SCY1-like 3 (S. cerevisiae)							92.0	94.0	94.0					1																	169833511		2203	4300	6503	SO:0001630	splice_region_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169833511delT	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.955+1A>-	1.37:g.169833511delT						SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice	p.K318_splice	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			9	1151	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		318					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Splice_Site	DEL	ENST00000367770.1	37	c.955_splice	CCDS1287.1																																																																																				0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	Frame_Shift_Del	8	823						8	823	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.450	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		16	514						16	514	---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202407189	202407190	+	Intron	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000336894.4_Intron|RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs|PPP1R12B_ENST00000356764.2_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																						ENST00000480184.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(1495-1497)tttfs		protein phosphatase 1, regulatory subunit 12B																																				SO:0001627	intron_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202407189_202407190insT	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT						PPP1R12B_ENST00000406302.3_Intron|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR	p.F499fs	NM_001167857.1	NP_001161329.1	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		10	1627_1628	+			499					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS	ENST00000608999.1	37	c.1495_1496insT	CCDS1426.1																																																																																				0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		20	252						20	252	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1477-1482)gaa>ga		chromosome 2 open reading frame 71																																				SO:0001651	inframe_deletion	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295647_29295649delTCC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1479_1481delGGA	2.37:g.29295656_29295658delTCC	ENSP00000332809:p.Glu494del						p.EE493del	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1478_1480	-			493						In_Frame_Del	DEL	ENST00000331664.5	37	c.1479_1481delGGA	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		8	918						8	918	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T	rs374250838|rs369805878|rs199562278	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	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			18	167						18	167	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		15	360						15	360	---	---	---	---
RGPD8	727851	broad.mit.edu	37	2	113181886	113181887	+	Splice_Site	INS	-	-	A	rs375647001	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000330575.5_Splice_Site|RGPD8_ENST00000409750.1_Splice_Site	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8						protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													|||unknown(NO_COVERAGE)	74	0.0147764	0.0507	0.0014	5008	,	,		33471	0.0		0.001	False		,,,				2504	0.0051					ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.e2-2		RANBP2-like and GRIP domain containing 8																																				SO:0001630	splice_region_variant	727851							g.chr2:113181886_113181887insA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.73-2->T	2.37:g.113181895_113181895dupA						RGPD8_ENST00000330575.5_Splice_Site|RGPD8_ENST00000409750.1_Splice_Site		NM_001164463.1	NP_001157935.1					2	264	-								Q5CZA8	Splice_Site	INS	ENST00000302558.3	37		CCDS46394.1																																																																																				0.252	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	Intron	7	1019						7	1019	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aaafs	p.K72fs	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGATGAGGCGAAAAAAAAGGA	0.388																																						ENST00000284669.1																			0											c.(208-210)aafs		kelch-like family member 41							145.0	144.0	145.0					2																	170366496		2203	4300	6503	SO:0001589	frameshift_variant	10324							g.chr2:170366496delA	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.208delA	2.37:g.170366496delA	ENSP00000284669:p.Lys72fs					BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.K72fs	NM_006063.2	NP_006054.2					1	285	+								Q53R42	Frame_Shift_Del	DEL	ENST00000284669.1	37	c.208delA	CCDS2234.1																																																																																				0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		10	861						10	861	---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)actfs	p.T361fs	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.T361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTTCTGAAGTTTTTTTTTCC	0.337																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1081-1083)ttcfs		general transcription factor IIIC, polypeptide 3, 102kDa																																				SO:0001589	frameshift_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197649613_197649614insT	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1082dupA	2.37:g.197649622_197649622dupT	ENSP00000263956:p.Thr361fs					GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			8	1170_1171	-			361					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Ins	INS	ENST00000263956.3	37	c.1081_1082insA	CCDS2316.1																																																																																				0.337	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			9	370						9	370	---	---	---	---
USP40	55230	broad.mit.edu	37	2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T	rs572063854		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000496298.1_5'UTR|USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1.0			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		8	302						8	302	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			16	1272						16	1272	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90.0	87.0	88.0					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		7	550						7	550	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:113505224delT	ENST00000273398.3	+	6	818	c.710delT	c.(709-711)cttfs	p.L237fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(709-711)ctfs		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							219.0	201.0	207.0					3																	113505224		2203	4300	6503	SO:0001589	frameshift_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505224delT	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710delT	3.37:g.113505224delT	ENSP00000273398:p.Leu237fs					ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	p.L237fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			6	818	+			237					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Frame_Shift_Del	DEL	ENST00000273398.3	37	c.710delT	CCDS2976.1																																																																																				0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		7	1066						7	1066	---	---	---	---
ALG1L	200810	broad.mit.edu	37	3	125647339	125647339	+	IGR	DEL	C	C	-	rs200677662		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:125647339delC	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCAGGCCAGGCCAGGA	0.557																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647339delC	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647339delC								NR_024251.1						0	484	+								D3DNA5	RNA	DEL	ENST00000340333.3	37		CCDS33840.1																																																																																				0.557	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		7	467						7	467	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)ctcdel	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCATCCAATAGAGGAGGAGGAGG	0.463																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(139-141)del		ATPase type 13A3																																				SO:0001651	inframe_deletion	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181471_194181473delGAG	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.139_141delCTC	3.37:g.194181480_194181482delGAG	ENSP00000416508:p.Leu47del					ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del	p.L47del			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	930_932	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	47					Q8NC11|Q96KS1	In_Frame_Del	DEL	ENST00000439040.1	37	c.139_141delCTC	CCDS43187.1																																																																																				0.463	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		8	747						8	747	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3216905	3216907	+	In_Frame_Del	DEL	GAG	GAG	-	rs373205907		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:3216905_3216907delGAG	ENST00000355072.5	+	51	7166_7168	c.7021_7023delGAG	c.(7021-7023)gagdel	p.E2345del		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2345	Poly-Glu.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCCATCAGCGAGGAGGAGGAGG	0.424																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(7021-7023)del		huntingtin																																				SO:0001651	inframe_deletion	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3216905_3216907delGAG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7021_7023delGAG	4.37:g.3216914_3216916delGAG	ENSP00000347184:p.Glu2345del						p.E2345del	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	51	7166_7168	+		all_epithelial(65;0.18)	2345			Poly-Glu.		Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	c.7021_7023delGAG	CCDS43206.1																																																																																				0.424	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		7	232						7	232	---	---	---	---
UGDH	7358	broad.mit.edu	37	4	39515753	39515753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:39515753delA	ENST00000316423.6	-	3	556	c.214delT	c.(214-216)tctfs	p.S72fs	UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Del_p.S72fs|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Del_p.S72fs	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	72					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.S72fs*18(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						ATATTGGTAGAAAAAAAAAGA	0.299																																						ENST00000316423.6																			1	Deletion - Frameshift(1)	p.S72fs*18(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(214-216)ctfs		UDP-glucose 6-dehydrogenase	NADH(DB00157)						64.0	75.0	72.0					4																	39515753		2201	4290	6491	SO:0001589	frameshift_variant	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39515753delA	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.214delT	4.37:g.39515753delA	ENSP00000319501:p.Ser72fs					UGDH_ENST00000506179.1_Frame_Shift_Del_p.S72fs|UGDH_ENST00000501493.2_Frame_Shift_Del_p.S72fs|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000515398.1_5'UTR	p.S72fs	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			3	556	-			72					B3KUU2|B4DN25|O60589	Frame_Shift_Del	DEL	ENST00000316423.6	37	c.214delT	CCDS3455.1																																																																																				0.299	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		8	1039						8	1039	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																						ENST00000295452.4																			1	Deletion - Frameshift(1)	p.F264fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(790-792)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060358delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs						p.F264fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	959	-			264					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.792delT	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		9	364						9	364	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T	rs533914363		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aaacgafs	p.R75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.R75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(220-225)aagatgfs		cyclin-dependent kinase-like 2 (CDC2-related kinase)																																				SO:0001589	frameshift_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539579_76539580insT	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.223dupA	4.37:g.76539588_76539588dupT	ENSP00000412365:p.Arg75fs					CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	925_926	-			75			Protein kinase.		B2R695	Frame_Shift_Ins	INS	ENST00000429927.2	37	c.222_223insA	CCDS3570.1																																																																																				0.322	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		14	444						14	444	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0.0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			7	263						7	263	---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82682613	82682614	+	lincRNA	DEL	TC	TC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:82682613_82682614delTC	ENST00000510780.1	-	0	390																											AGTTAACCAGtctctctctctc	0.446																																						ENST00000510780.1																			0																																																			0							g.chr4:82682613_82682614delTC																													4.37:g.82682623_82682624delTC														0	390	-									RNA	DEL	ENST00000510780.1	37																																																																																						0.446	RP11-689K5.3-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000363620.1			3	4						3	4	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114214679	114214681	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:114214679_114214681delCAC	ENST00000357077.4	+	22	2513_2515	c.2460_2462delCAC	c.(2458-2463)gtcacc>gtc	p.T826del	ANK2_ENST00000506722.1_In_Frame_Del_p.T805del|ANK2_ENST00000394537.3_In_Frame_Del_p.T826del|ANK2_ENST00000264366.6_In_Frame_Del_p.T826del|ANK2_ENST00000509550.1_In_Frame_Del_p.T35del	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	826					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGAGGAGGTCACCACCACCACC	0.468																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2458-2463)gtc>gt		ankyrin 2, neuronal			,,	9,4257		0,9,2124					,,	5.3	1.0			125	26,8228		0,26,4101	no	coding,coding,coding	ANK2	NM_020977.3,NM_001148.4,NM_001127493.1	,,	0,35,6225	A1A1,A1R,RR		0.315,0.211,0.2796	,,	,,		35,12485				SO:0001651	inframe_deletion	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114214679_114214681delCAC	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2460_2462delCAC	4.37:g.114214688_114214690delCAC	ENSP00000349588:p.Thr826del					ANK2_ENST00000394537.3_In_Frame_Del_p.VT820del|ANK2_ENST00000264366.6_In_Frame_Del_p.VT820del|ANK2_ENST00000509550.1_In_Frame_Del_p.VT29del|ANK2_ENST00000506722.1_In_Frame_Del_p.VT799del	p.VT820del	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	22	2513_2515	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	820					Q01485|Q08AC7|Q08AC8|Q7Z3L5	In_Frame_Del	DEL	ENST00000357077.4	37	c.2460_2462delCAC	CCDS3702.1																																																																																				0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		7	291						7	291	---	---	---	---
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000438704.2_In_Frame_Del_p.194_195EE>E|HMGB2_ENST00000446922.2_In_Frame_Del_p.194_195EE>E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468																																						ENST00000296503.5																			1	Substitution - coding silent(1)	p.E194E(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(580-585)gaa>ga		high mobility group box 2			,,	25,4237		10,5,2116					,,	-1.4	1.0			279	85,8161		40,5,4078	no	coding,coding,coding	HMGB2	NM_002129.3,NM_001130689.1,NM_001130688.1	,,	50,10,6194	A1A1,A1R,RR		1.0308,0.5866,0.8794	,,	,,		110,12398				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253277_174253279delTCC		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582_584delGGA	4.37:g.174253286_174253288delTCC	ENSP00000296503:p.Glu197del					HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del	p.EE196del			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1455_1457	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	196			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.582_584delGGA	CCDS3816.1																																																																																				0.468	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		9	468						9	468	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32089076	32089076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:32089076delA	ENST00000438447.1	+	20	5910	c.5522delA	c.(5521-5523)caafs	p.Q1841fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.Q1841fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1841					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.V1845fs*6(1)		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						AGTTCAAGCCAAAAAAAGGGC	0.478																																						ENST00000438447.1																			1	Insertion - Frameshift(1)	p.V1845fs*6(1)	large_intestine(1)	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.(5521-5523)cafs		PDZ domain containing 2							96.0	100.0	99.0					5																	32089076		2203	4300	6503	SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089076delA	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.5522delA	5.37:g.32089076delA	ENSP00000402033:p.Gln1841fs					PDZD2_ENST00000282493.3_Frame_Shift_Del_p.Q1841fs	p.Q1841fs			O15018	PDZD2_HUMAN			20	5910	+			1841					Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.5522delA	CCDS34137.1																																																																																				0.478	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			9	582						9	582	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			16	1227						16	1227	---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(700-702)aaafs	p.K234fs		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(697-702)acaaaafs		serum response factor binding protein 1																																				SO:0001589	frameshift_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356129_121356130insA	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.707dupA	5.37:g.121356137_121356137dupA	ENSP00000341324:p.Lys234fs						p.TK233fs	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	771_772	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	233						Frame_Shift_Ins	INS	ENST00000339397.4	37	c.699_700insA	CCDS43354.1																																																																																				0.401	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		7	565						7	565	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																						ENST00000200652.3																			1	Insertion - Frameshift(1)	p.E509fs*1(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1513-1515)ctfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	p.L505fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1688	+		all_cancers(142;0.0752)|Breast(839;0.198)	505					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		11	1188						11	1188	---	---	---	---
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Intron	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:172578611delT	ENST00000351486.5	+	3	208				BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000231668.9_Frame_Shift_Del_p.F76fs	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(220-222)ttfs		BCL2/adenovirus E1B 19kDa interacting protein 1			,,,	16,4248		4,8,2120	126.0	120.0	122.0		,,,	-3.2	0.0	5		123	29,8225		6,17,4104	no	frameshift,frameshift,intron,intron	BNIP1	NM_013980.2,NM_013979.2,NM_013978.2,NM_001205.2	,,,	10,25,6224	A1A1,A1R,RR		0.3513,0.3752,0.3595	,,,	,,,	172578611	45,12473	2203	4300	6503	SO:0001627	intron_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172578611delT	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.178-2714T>-	5.37:g.172578611delT						BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Intron	p.F76fs	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	324	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	59					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Frame_Shift_Del	DEL	ENST00000351486.5	37	c.220delT	CCDS4384.1																																																																																				0.348	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		13	474						13	474	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31975223	31975224	+	5'Flank	INS	-	-	T	rs369404825		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				10	556						10	556	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(31-33)del		triggering receptor expressed on myeloid cells-like 2				143,4121		8,127,1997						4.0	1.0			26	249,8005		8,233,3886	no	coding	TREML2	NM_024807.2		16,360,5883	A1A1,A1R,RR		3.0167,3.3537,3.1315				392,12126				SO:0001651	inframe_deletion	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168714_41168716delCAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33delCTG	6.37:g.41168723_41168725delCAG	ENSP00000418767:p.Leu11del						p.L11del	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			1	216_218	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		11					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Del	DEL	ENST00000483722.1	37	c.31_33delCTG	CCDS4853.2																																																																																				0.631	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		9	107						9	107	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		7	247						7	247	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:86332353_86332354insT	ENST00000369622.3	-	8	1354_1355	c.854_855insA	c.(853-855)aacfs	p.N285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Ins_p.N285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(853-855)aagfs		synaptotagmin binding, cytoplasmic RNA interacting protein																																				SO:0001589	frameshift_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332353_86332354insT	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.855dupA	6.37:g.86332361_86332361dupT	ENSP00000358635:p.Asn285fs					SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1060_1061	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	285			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Ins	INS	ENST00000369622.3	37	c.854_855insA	CCDS5005.1																																																																																				0.411	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		9	518						9	518	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127804080	127804080	+	Frame_Shift_Del	DEL	T	T	-	rs34142169		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr6:127804080delT	ENST00000525778.1	-	5	2280	c.1535delA	c.(1534-1536)aagfs	p.K512fs	SOGA3_ENST00000556132.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs			Q5TF21	SOGA3_HUMAN	SOGA family member 3	512					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTGTTGAGCCTTTTTTTCAGA	0.294																																						ENST00000556132.1																			0											c.(1534-1536)agfs		SOGA family member 3							133.0	121.0	125.0					6																	127804080		1790	4063	5853	SO:0001589	frameshift_variant	387104					integral to membrane		g.chr6:127804080delT	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1535delA	6.37:g.127804080delT	ENSP00000434570:p.Lys512fs					SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs	p.K512fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			5	2399	-			512						Frame_Shift_Del	DEL	ENST00000525778.1	37	c.1535delA	CCDS43505.1																																																																																				0.294	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		7	582						7	582	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs368428758|rs10951154|rs544314279	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.R73del|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154). {ECO:0000269|PubMed:11091361, ECO:0000269|PubMed:14702039}.		abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.65											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37	0.00738818	0.0	0.0144	5008	,	,		11776	0.001		0.0209	False		,,,				2504	0.0051					ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(214-219)cac>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135314_27135316delCGA		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.216_218delTCG	7.37:g.27135314_27135316delCGA	ENSP00000343246:p.Arg73del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del	p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	277_279	-			72			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.216_218delTCG	CCDS5401.1																																																																																				0.650	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			7	283						7	283	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			7	54						7	54	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72662705	72662705	+	RNA	DEL	T	T	-	rs576757010	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:72662705delT	ENST00000425256.1	-	0	978									GTF2I repeat domain containing 2 pseudogene 1																		CTTAGttttatttttttttaa	0.333														5	0.000998403	0.0038	0.0	5008	,	,		20029	0.0		0.0	False		,,,				2504	0.0					ENST00000425256.1																			0																																																			0							g.chr7:72662705delT	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72662705delT								NR_002164.1						0	978	-									RNA	DEL	ENST00000425256.1	37																																																																																						0.333	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		7	377						7	377	---	---	---	---
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aaafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(229-231)aafs		transmembrane protein 60							142.0	141.0	141.0					7																	77423460		2203	4300	6503	SO:0001589	frameshift_variant	85025					integral to membrane		g.chr7:77423460delT	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.231delA	7.37:g.77423460delT	ENSP00000257663:p.Lys77fs						p.K77fs	NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN			2	607	-			77					A4D1C3|Q86UM0	Frame_Shift_Del	DEL	ENST00000257663.3	37	c.231delA	CCDS5593.1																																																																																				0.408	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		12	601						12	601	---	---	---	---
CYP51A1	1595	broad.mit.edu	37	7	91743159	91743160	+	Splice_Site	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:91743159_91743160insA	ENST00000003100.8	-	10	1517		c.e10-2		LRRD1_ENST00000422722.1_Splice_Site|CYP51A1_ENST00000450723.1_Splice_Site	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1						cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	GATGACGCCCTAAAAAAAAGAA	0.317																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.e10-2		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)																																			SO:0001630	splice_region_variant	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91743159_91743160insA	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1352-2->T	7.37:g.91743167_91743167dupA						LRRD1_ENST00000422722.1_Splice_Site|CYP51A1_ENST00000450723.1_Splice_Site		NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		10	1517	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)							A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Splice_Site	INS	ENST00000003100.8	37		CCDS5623.1																																																																																				0.317	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4		Intron	8	407						8	407	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:102883498delA	ENST00000312132.4	-	0	2616							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTACCACTGTAAAAAAAAAAA	0.284																																						ENST00000312132.4																			0																																																			0							g.chr7:102883498delA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102883498delA														0	2616	-								Q8N9V4|Q8ND62	RNA	DEL	ENST00000312132.4	37																																																																																						0.284	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		10	86						10	86	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099832	142099833	+	RNA	DEL	CA	CA	-	rs377589241|rs150299545|rs527701975	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:142099832_142099833delCA	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		accactctctcacacacacaca	0.455																																						ENST00000390359.3																			0																	68,3612		7,54,1779						-5.2	0.0			58	51,7855		15,21,3917	no	intergenic				22,75,5696	A1A1,A1R,RR		0.6451,1.8478,1.0271				119,11467						0							g.chr7:142099832_142099833delCA	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099842_142099843delCA														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.455	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		7	330						7	330	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				SFTPC_ENST00000524255.1_Intron|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000306349.8_5'Flank|BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		7	621						7	621	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457|rs368917144	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_ENST00000523095.1_In_Frame_Del_p.339_340AA>A|ZNF395_ENST00000523202.1_In_Frame_Del_p.339_340AA>A	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1015-1020)gcc>gc		zinc finger protein 395				554,80,3604		203,0,148,2,76,1690						-6.6	0.0			63	1049,5,7094		390,0,269,0,5,3410	no	codingComplex	ZNF395	NM_018660.2		593,0,417,2,81,5100	A1A1,A1A2,A1R,A2A2,A2R,RR		12.9357,14.9599,13.6283				1603,85,10698				SO:0001651	inframe_deletion	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28209226_28209228delGCA	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1017_1019delTGC	8.37:g.28209235_28209237delGCA	ENSP00000340494:p.Ala341del					ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del	p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	1148_1150	-		Ovarian(32;2.06e-05)	339					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	In_Frame_Del	DEL	ENST00000344423.5	37	c.1017_1019delTGC	CCDS6067.1																																																																																				0.606	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			20	599						20	599	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		7	741						7	741	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		8	1154						8	1154	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e36-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4497	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37		CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	7	448						7	448	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												ENST00000333480.2																			3	Deletion - In frame(3)	p.H208delH(3)	upper_aerodigestive_tract(2)|breast(1)	breast(1)|lung(1)|upper_aerodigestive_tract(2)	4						c.(619-624)cat>ca		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)				MAFA_ENST00000528185.1_5'UTR	p.HH207del	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	620_622	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																				0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		6	8						6	8	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974777	21974780	+	Frame_Shift_Del	DEL	GCCA	GCCA	-	rs587782206		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:21974777_21974780delGCCA	ENST00000304494.5	-	1	317_320	c.47_50delTGGC	c.(46-51)ctggccfs	p.LA16fs	CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCGGCCGTGGCCAGCCAGTCAGC	0.755		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1352	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(6)|Substitution - Missense(4)|Insertion - In frame(2)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(170)|central_nervous_system(164)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|pancreas(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM023346|CM980321	CDKN2A	M		c.(46-51)ccfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974777_21974780delGCCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.47_50delTGGC	9.37:g.21974781_21974784delGCCA	ENSP00000307101:p.Leu16fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498628.2_Intron	p.LA16fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	317_320	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	16		L -> P (in a biliary tract tumor and a familial melanoma).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.47_50delTGGC	CCDS6510.1																																																																																				0.755	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		82	73						82	73	---	---	---	---
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	DEL	G	G	-	rs201713470	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			0							g.chr9:41962602delG																													9.37:g.41962602delG								NR_003670.1						0	902	-									RNA	DEL	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			8	468						8	468	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gaggat>gat	p.E273del	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.E251del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(817-822)gat>ga		extracellular matrix protein 2, female organ and adipocyte specific																																				SO:0001651	inframe_deletion	1842				cell-matrix adhesion		integrin binding	g.chr9:95277146_95277148delTCC	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.819_821delGGA	9.37:g.95277155_95277157delTCC	ENSP00000344758:p.Glu273del					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del	p.ED273del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	968_970	-			273			Poly-Glu.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	In_Frame_Del	DEL	ENST00000344604.5	37	c.819_821delGGA	CCDS6698.1																																																																																				0.606	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		14	599						14	599	---	---	---	---
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-	rs150455117|rs112857574	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611														3777	0.754193	0.6051	0.8084	5008	,	,		15297	0.8869		0.7227	False		,,,				2504	0.8129					ENST00000253262.4																			1	Deletion - In frame(1)	p.S557delS(1)	central_nervous_system(1)								c.(2071-2073)del		NUT family member 2F				2288,1260		619,1050,105						-3.0	0.0		dbSNP_134	20	5646,2060		2048,1550,255	no	coding	FAM22F	NM_017561.1		2667,2600,360	A1A1,A1R,RR		26.7324,35.513,29.5006				7934,3320				SO:0001651	inframe_deletion	54754							g.chr9:97080945_97080947delAGA		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2071_2073delTCT	9.37:g.97080945_97080947delAGA	ENSP00000253262:p.Ser691del					NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	p.S691del	NM_017561.1	NP_060031.1					7	2091_2093	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	In_Frame_Del	DEL	ENST00000253262.4	37	c.2071_2073delTCT	CCDS47994.1																																																																																				0.611	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		21	21						21	21	---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-891)cgg>cg		chromosome 9 open reading frame 43				2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				SO:0001651	inframe_deletion	257169							g.chr9:116187646_116187648delGCA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del					C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1334_1336	+			296			Gln-rich.			In_Frame_Del	DEL	ENST00000288462.4	37	c.888_890delGCA	CCDS6796.1																																																																																				0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		12	397						12	397	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	294						7	294	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828727	61828729	+	In_Frame_Del	DEL	GTG	GTG	-	rs368539157		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:61828727_61828729delGTG	ENST00000280772.2	-	37	12101_12103	c.11910_11912delCAC	c.(11908-11913)accact>act	p.3970_3971TT>T	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3970	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						agtggtggtagtggtggtggtgg	0.468																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11908-11913)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828727_61828729delGTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11910_11912delCAC	10.37:g.61828736_61828738delGTG	ENSP00000280772:p.Thr3978del					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.TT3976del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12101_12103	-			3976			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11910_11912delCAC	CCDS7258.1																																																																																				0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		8	478						8	478	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:75560463_75560464insC	ENST00000605216.1	+	24	5294_5295	c.5077_5078insC	c.(5077-5079)tccfs	p.S1693fs	ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.S1698fs|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.S1690fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.S1511fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.S1652fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										CTTCTCCCGCTCCCCCCCCTAC	0.604																																						ENST00000604729.1																			0											c.(5068-5070)cccfs		zinc finger, SWIM-type containing 8			,,	27,3721		0,27,1847					,,	4.9	1.0			133	23,7871		0,23,3924	no	frameshift,frameshift,frameshift	KIAA0913	NM_015037.3,NM_001242488.1,NM_001242487.1	,,	0,50,5771	A1A1,A1R,RR		0.2914,0.7204,0.4295	,,	,,		50,11592				SO:0001589	frameshift_variant	23053							g.chr10:75560463_75560464insC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5085dupC	10.37:g.75560471_75560471dupC	ENSP00000474748:p.Ser1693fs					ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs	p.P1690fs							24	5365_5366	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	ENST00000605216.1	37	c.5068_5069insC																																																																																					0.604	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		9	689						9	689	---	---	---	---
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcctcc>gcc	p.S197del	LZTS2_ENST00000370223.3_In_Frame_Del_p.S197del					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.65																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(559-564)gcc>g		leucine zipper, putative tumor suppressor 2				12,4252		3,6,2123						5.3	1.0			94	17,8235		4,9,4113	no	coding	LZTS2	NM_032429.2		7,15,6236	A1A1,A1R,RR		0.206,0.2814,0.2317				29,12487				SO:0001651	inframe_deletion	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763415_102763417delCCT	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.560_562delCCT	10.37:g.102763424_102763426delCCT	ENSP00000359240:p.Ser197del					LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del	p.AS187del			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	2	3623_3625	+			187			Required for centrosomal localization (By similarity).			In_Frame_Del	DEL	ENST00000370220.1	37	c.560_562delCCT	CCDS7507.1																																																																																				0.650	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		10	1122						10	1122	---	---	---	---
EPS8L2	64787	broad.mit.edu	37	11	723304	723305	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:723304_723305insC	ENST00000533256.1	+	16	1780_1781	c.1405_1406insC	c.(1405-1407)accfs	p.T469fs	EPS8L2_ENST00000526198.1_Frame_Shift_Ins_p.T485fs|EPS8L2_ENST00000530636.1_Frame_Shift_Ins_p.T469fs|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Frame_Shift_Ins_p.T469fs			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	469					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)	p.D473fs*30(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCAGAGCCCACCCCCCCGGGG	0.584											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533256.1																			1	Insertion - Frameshift(1)	p.D473fs*30(1)	large_intestine(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1405-1407)cccfs		EPS8-like 2				17,4247		0,17,2115						-1.4	0.0			78	21,8233		1,19,4107	no	frameshift	EPS8L2	NM_022772.3		1,36,6222	A1A1,A1R,RR		0.2544,0.3987,0.3036				38,12480				SO:0001589	frameshift_variant	64787					cytoplasm		g.chr11:723304_723305insC	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1412dupC	11.37:g.723311_723311dupC	ENSP00000435585:p.Thr469fs		OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	590	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Frame_Shift_Ins_p.P469fs|EPS8L2_ENST00000526198.1_Frame_Shift_Ins_p.P485fs|EPS8L2_ENST00000318562.8_Frame_Shift_Ins_p.P469fs	p.P469fs			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	16	1780_1781	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	469					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Frame_Shift_Ins	INS	ENST00000533256.1	37	c.1405_1406insC	CCDS31328.1																																																																																				0.584	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		8	494						8	494	---	---	---	---
PNPLA2	57104	broad.mit.edu	37	11	823728	823729	+	Frame_Shift_Ins	INS	-	-	C	rs56152088	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:823728_823729insC	ENST00000336615.4	+	7	994_995	c.792_793insC	c.(793-795)cccfs	p.P265fs	AP006621.8_ENST00000528982.1_RNA|AP006621.8_ENST00000532946.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	265					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGCGTTGCCCCCCGCCCG	0.678																																						ENST00000336615.4																			0				breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9						c.(790-795)ttccccfs		patatin-like phospholipase domain containing 2																																				SO:0001589	frameshift_variant	57104				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity	g.chr11:823728_823729insC	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"""Patatin-like phospholipase domain containing"""	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.798dupC	11.37:g.823734_823734dupC	ENSP00000337701:p.Pro265fs					AP006621.8_ENST00000528982.1_RNA|AP006621.8_ENST00000532946.1_RNA	p.FP264fs	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	994_995	+		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	264					O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Frame_Shift_Ins	INS	ENST00000336615.4	37	c.792_793insC	CCDS7718.1																																																																																				0.678	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257106.1	NM_020376		16	52						16	52	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			7	593						7	593	---	---	---	---
NAP1L4	4676	broad.mit.edu	37	11	2991166	2991167	+	Splice_Site	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:2991166_2991167insA	ENST00000380542.4	-	7	543		c.e7-2		NAP1L4_ENST00000526115.1_Splice_Site	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4						nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGAT	0.416																																						ENST00000380542.4																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13						c.e7-2		nucleosome assembly protein 1-like 4																																				SO:0001630	splice_region_variant	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2991166_2991167insA	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.403-2->T	11.37:g.2991174_2991174dupA						NAP1L4_ENST00000526115.1_Splice_Site		NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	7	543	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)						B2R6J4|F5HFY4	Splice_Site	INS	ENST00000380542.4	37		CCDS41599.1																																																																																				0.416	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969	Intron	7	326						7	326	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		10	696						10	696	---	---	---	---
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(268-270)del		olfactory receptor, family 10, subfamily A, member 2																																				SO:0001651	inframe_deletion	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891253_6891255delTTC	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.268_270delTTC	11.37:g.6891262_6891264delTTC	ENSP00000303862:p.Phe94del						p.F94del	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	330_332	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	94					B2RNL9|Q6IFG9	In_Frame_Del	DEL	ENST00000307322.4	37	c.268_270delTTC	CCDS31415.1																																																																																				0.517	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		7	700						7	700	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:19901475_19901477delAGC	ENST00000396087.3	+	5	671_673	c.572_574delAGC	c.(571-576)aagcag>aag	p.Q196del	NAV2_ENST00000396085.1_In_Frame_Del_p.Q196del|NAV2_ENST00000540292.1_In_Frame_Del_p.Q127del|NAV2_ENST00000360655.4_In_Frame_Del_p.Q132del|NAV2_ENST00000349880.4_In_Frame_Del_p.Q196del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_In_Frame_Del_p.Q125del	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	196	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(571-576)aag>a		neuron navigator 2			,,	52,4210		4,44,2083					,,	5.9	1.0			68	58,8184		2,54,4065	no	coding,coding,coding	NAV2	NM_182964.5,NM_145117.4,NM_001111018.1	,,	6,98,6148	A1A1,A1R,RR		0.7037,1.2201,0.8797	,,	,,		110,12394				SO:0001651	inframe_deletion	89797					nucleus	ATP binding|helicase activity	g.chr11:19901475_19901477delAGC	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.572_574delAGC	11.37:g.19901484_19901486delAGC	ENSP00000379396:p.Gln196del					NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del	p.KQ191del	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			5	933_935	+			191			CH.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	In_Frame_Del	DEL	ENST00000396087.3	37	c.572_574delAGC	CCDS58126.1																																																																																				0.611	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		8	557						8	557	---	---	---	---
MUC15	143662	broad.mit.edu	37	11	26587427	26587427	+	5'UTR	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:26587427delT	ENST00000455601.2	-	0	97				MUC15_ENST00000529533.1_Frame_Shift_Del_p.K20fs|MUC15_ENST00000527569.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000436318.2_Frame_Shift_Del_p.K20fs|MUC15_ENST00000281268.8_Frame_Shift_Del_p.K20fs|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTGGTATTGGTTTTTTTTTAA	0.289																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(58-60)aafs		mucin 15, cell surface associated							30.0	31.0	30.0					11																	26587427		2174	4267	6441	SO:0001623	5_prime_UTR_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26587427delT	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.-22A>-	11.37:g.26587427delT						MUC15_ENST00000281268.8_Frame_Shift_Del_p.K20fs|MUC15_ENST00000527569.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Frame_Shift_Del_p.K20fs|MUC15_ENST00000455601.2_5'UTR|ANO3_ENST00000525139.1_Intron	p.K20fs			Q8N387	MUC15_HUMAN			2	193	-			0					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Frame_Shift_Del	DEL	ENST00000455601.2	37	c.60delA	CCDS7859.1																																																																																				0.289	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		9	298						9	298	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.660	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		7	409						7	409	---	---	---	---
TBC1D10C	374403	broad.mit.edu	37	11	67177151	67177152	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:67177151_67177152insC	ENST00000542590.1	+	9	1281_1282	c.1267_1268insC	c.(1267-1269)gccfs	p.A423fs	TBC1D10C_ENST00000312390.5_Frame_Shift_Ins_p.A423fs|TBC1D10C_ENST00000526387.1_3'UTR			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	423	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGACTCGGGCCCGGGGCCCC	0.693																																						ENST00000312390.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(1267-1269)ccgfs		TBC1 domain family, member 10C				64,3390		2,60,1665						-2.3	0.8			10	110,7064		6,98,3483	no	frameshift	TBC1D10C	NM_198517.2		8,158,5148	A1A1,A1R,RR		1.5333,1.8529,1.6372				174,10454				SO:0001589	frameshift_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67177151_67177152insC	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1270dupC	11.37:g.67177154_67177154dupC	ENSP00000443654:p.Ala423fs					TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.P423fs|TBC1D10C_ENST00000526387.1_3'UTR	p.P423fs	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1296_1297	+			423			Interaction with calcineurin.		G3V1D6	Frame_Shift_Ins	INS	ENST00000542590.1	37	c.1267_1268insC	CCDS8162.1																																																																																				0.693	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		14	92						14	92	---	---	---	---
CD3G	917	broad.mit.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	A	-	rs570768621|rs199676861	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:118220583delA	ENST00000532917.1	+	3	273	c.205delA	c.(205-207)aaafs	p.K71fs	CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	71	Ig-like.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AACTGAAGATAAAAAAAAATG	0.403													AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion	3	0.000599042	0.0008	0.0014	5008	,	,		19811	0.0		0.001	False		,,,				2504	0.0					ENST00000532917.1																			0				breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	GRCh37	CM983819	CD3G	M		c.(205-207)aafs		CD3g molecule, gamma (CD3-TCR complex)							100.0	97.0	98.0					11																	118220583		2200	4296	6496	SO:0001589	frameshift_variant	917				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	g.chr11:118220583delA	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.205delA	11.37:g.118220583delA	ENSP00000431445:p.Lys71fs					CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs	p.K71fs	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	273	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	71			Ig-like.		Q2HIZ6	Frame_Shift_Del	DEL	ENST00000532917.1	37	c.205delA	CCDS8395.1																																																																																				0.403	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		16	402						16	402	---	---	---	---
DPAGT1	1798	broad.mit.edu	37	11	118967854	118967856	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:118967854_118967856delGCA	ENST00000409993.2	-	10	2708_2710	c.1157_1159delTGC	c.(1156-1161)ctgcag>cag	p.L386del	DPAGT1_ENST00000354202.4_In_Frame_Del_p.L386del|H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000432443.2_In_Frame_Del_p.L279del			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	386					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATCCTCACCTGCAGCAGCAGCAG	0.488																																						ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(1156-1161)cag>c		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)																																				SO:0001651	inframe_deletion	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118967854_118967856delGCA	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1157_1159delTGC	11.37:g.118967863_118967865delGCA	ENSP00000386597:p.Leu386del					DPAGT1_ENST00000432443.2_In_Frame_Del_p.LQ279del|DPAGT1_ENST00000354202.4_In_Frame_Del_p.LQ386del	p.LQ386del			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	10	2708_2710	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	386					O15216|Q86WV9|Q9BWE6	In_Frame_Del	DEL	ENST00000409993.2	37	c.1157_1159delTGC	CCDS8411.1																																																																																				0.488	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		7	590						7	590	---	---	---	---
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	460	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		1	Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1363-1368)tat>t		Cbl proto-oncogene, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149356_119149358delATG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1364_1366delATG	11.37:g.119149365_119149367delATG	ENSP00000264033:p.Asp460del						p.YD455del	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1740_1742	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	455			Asp/Glu-rich (acidic).		A3KMP8	In_Frame_Del	DEL	ENST00000264033.4	37	c.1364_1366delATG	CCDS8418.1																																																																																				0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		7	363						7	363	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	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_ENST00000309577.6_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del	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		16	484						16	484	---	---	---	---
CD69	969	broad.mit.edu	37	12	9907234	9907234	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:9907234delT	ENST00000228434.3	-	4	520	c.440delA	c.(439-441)aagfs	p.K147fs	CD69_ENST00000536709.1_Frame_Shift_Del_p.K147fs	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	147	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						ACCAGGTTCCTTTTTCAGTCC	0.433																																						ENST00000228434.3																			0				endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(439-441)agfs		CD69 molecule							220.0	222.0	221.0					12																	9907234		2203	4300	6503	SO:0001589	frameshift_variant	969					integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9907234delT	Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"""C-type lectin domain containing"", ""CD molecules"""	1694	protein-coding gene	gene with protein product		107273	"""CD69 antigen (p60, early T-cell activation antigen)"""			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.440delA	12.37:g.9907234delT	ENSP00000228434:p.Lys147fs					CD69_ENST00000536709.1_Frame_Shift_Del_p.K147fs	p.K147fs	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN			4	520	-			147			C-type lectin.			Frame_Shift_Del	DEL	ENST00000228434.3	37	c.440delA	CCDS8604.1																																																																																				0.433	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1			7	2570						7	2570	---	---	---	---
TAS2R50	259296	broad.mit.edu	37	12	11139431	11139432	+	Frame_Shift_Ins	INS	-	-	A	rs79147066	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:11139431_11139432insA	ENST00000506868.1	-	1	79_80	c.28_29insT	c.(28-30)tcafs	p.S10fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	10					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.S10fs*3(2)|p.S10fs*25(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TATTAGAATTGAAAAAAAAATG	0.317																																						ENST00000506868.1																			3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.S10fs*3(2)|p.S10fs*25(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						c.(28-30)aatfs		taste receptor, type 2, member 50																																				SO:0001589	frameshift_variant	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11139431_11139432insA	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.29dupT	12.37:g.11139440_11139440dupA	ENSP00000424040:p.Ser10fs					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.N10fs	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN			1	79_80	-			10					P59545|Q2M255|Q645Y0	Frame_Shift_Ins	INS	ENST00000506868.1	37	c.28_29insT	CCDS8638.1																																																																																				0.317	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		18	825						18	825	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20833140	20833142	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:20833140_20833142delGAA	ENST00000359062.3	+	16	3401_3403	c.3361_3363delGAA	c.(3361-3363)gaadel	p.E1125del	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1125	Poly-Glu.				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)	GGCTATCAAGGAAGAAGAAGAAG	0.478																																						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.(3361-3363)del		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)																																			SO:0001651	inframe_deletion	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.chr12:20833140_20833142delGAA		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.3361_3363delGAA	12.37:g.20833149_20833151delGAA	ENSP00000351957:p.Glu1125del					PDE3A_ENST00000544307.1_3'UTR	p.E1125del	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3401_3403	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1125			Poly-Glu.		O60865|Q13348|Q17RD1	In_Frame_Del	DEL	ENST00000359062.3	37	c.3361_3363delGAA	CCDS31754.1																																																																																				0.478	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			7	1010						7	1010	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138.0	135.0	136.0					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		11	1012						11	1012	---	---	---	---
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-	rs188092231|rs369463367		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000341039.2_In_Frame_Del_p.E103del	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		7	480						7	480	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gag>g		splicing factor, suppressor of white-apricot homolog (Drosophila)				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	p.EK849del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			16	2687_2689	+			849			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		7	636						7	636	---	---	---	---
FBXL3	26224	broad.mit.edu	37	13	77581683	77581683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr13:77581683delA	ENST00000355619.5	-	5	1208	c.884delT	c.(883-885)ttafs	p.L295fs	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	295					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L295fs*3(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TTCTTCATATAAAAAAAAATA	0.418																																						ENST00000355619.5																			1	Insertion - Frameshift(1)	p.L295fs*3(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(883-885)tafs		F-box and leucine-rich repeat protein 3							72.0	73.0	72.0					13																	77581683		2203	4300	6503	SO:0001589	frameshift_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581683delA	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.884delT	13.37:g.77581683delA	ENSP00000347834:p.Leu295fs					FBXL3_ENST00000477982.1_Intron	p.L295fs	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1208	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	295					B2RB04|Q9P122	Frame_Shift_Del	DEL	ENST00000355619.5	37	c.884delT	CCDS9457.1																																																																																				0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			8	359						8	359	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr13:103524612delA	ENST00000355739.4	+	13	4166	c.2743delA	c.(2743-2745)aaafs	p.K917fs	BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.E1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	917					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAAAGTGAAAAAAAAATT	0.428			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2743-2745)aafs	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							79.0	77.0	77.0					13																	103524612		2203	4300	6503	SO:0001589	frameshift_variant	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103524612delA	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2743delA	13.37:g.103524612delA	ENSP00000347978:p.Lys917fs					ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs	p.K917fs	NM_000123.3	NP_000114.2					13	4166	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Frame_Shift_Del	DEL	ENST00000355739.4	37	c.2743delA	CCDS32004.1																																																																																				0.428	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			8	402						8	402	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4390-4392)del		signal-induced proliferation-associated 1 like 1																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del	p.S1468del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		8	500						8	500	---	---	---	---
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473095	22473096	+	RNA	INS	-	-	G	rs377032678		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:22473095_22473096insG	ENST00000557788.2	-	0	174_175							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCCTGGGGGCTGGCGGACCCAG	0.594																																						ENST00000557788.2																			0																																																			0							g.chr15:22473095_22473096insG	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473097_22473097dupG														0	174_175	-									RNA	INS	ENST00000557788.2	37																																																																																						0.594	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			24	1351						24	1351	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42003383	42003385	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:42003383_42003385delCAG	ENST00000570161.1	+	7	2920_2922	c.2920_2922delCAG	c.(2920-2922)cagdel	p.Q981del	MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del|MGA_ENST00000219905.7_In_Frame_Del_p.Q981del|MGA_ENST00000389936.4_In_Frame_Del_p.Q981del			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)	GCGGCAGGCACAGCAGCAGCAGC	0.458																																						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.(2920-2922)del		MGA, MAX dimerization protein																																				SO:0001651	inframe_deletion	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003383_42003385delCAG	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.2920_2922delCAG	15.37:g.42003392_42003394delCAG	ENSP00000457035:p.Gln981del					MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000570161.1_In_Frame_Del_p.Q981del	p.Q981del	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)	8	3101_3103	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	981			Gln-rich.		Q0VAX6|Q75ME7|Q86UM5	In_Frame_Del	DEL	ENST00000570161.1	37	c.2920_2922delCAG	CCDS55959.1																																																																																				0.458	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		9	446						9	446	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:42742957delA	ENST00000263805.4	-	2	1770	c.1444delT	c.(1444-1446)tccfs	p.S482fs	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	482					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTCCAGGGGAAAAAAAATTT	0.393																																						ENST00000263805.4																			0											c.(1444-1446)ccfs		zinc finger protein 106							208.0	205.0	206.0					15																	42742957		2203	4299	6502	SO:0001589	frameshift_variant	64397							g.chr15:42742957delA	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1444delT	15.37:g.42742957delA	ENSP00000263805:p.Ser482fs					ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	p.S482fs	NM_022473.1	NP_071918.1					2	1770	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Frame_Shift_Del	DEL	ENST00000263805.4	37	c.1444delT	CCDS32208.1																																																																																				0.393	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		7	1224						7	1224	---	---	---	---
CGNL1	84952	broad.mit.edu	37	15	57744359	57744360	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:57744359_57744360delAG	ENST00000281282.5	+	6	2004_2005	c.1926_1927delAG	c.(1924-1929)gaagagfs	p.EE642fs		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	642						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACATTAAAGAAGAGAGAGAGAG	0.441																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(1924-1929)gaagfs		cingulin-like 1																																				SO:0001589	frameshift_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57744359_57744360delAG	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1926_1927delAG	15.37:g.57744369_57744370delAG	ENSP00000281282:p.Glu642fs						p.EE642fs	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	6	2004_2005	+			642					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Frame_Shift_Del	DEL	ENST00000281282.5	37	c.1926_1927delAG	CCDS10161.1																																																																																				0.441	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		7	315						7	315	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93540315	93540316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:93540315_93540316insA	ENST00000394196.4	+	29	4792_4793	c.3724_3725insA	c.(3724-3726)gaafs	p.E1242fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.E1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1242					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACCCTGAAGAAAAAAAAAAG	0.347																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(3724-3726)aaafs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93540315_93540316insA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3735dupA	15.37:g.93540325_93540325dupA	ENSP00000377747:p.Glu1242fs					CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1242fs	p.K1242fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		29	4792_4793	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1242					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.3724_3725insA	CCDS10374.2																																																																																				0.347	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		15	378						15	378	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			7	135						7	135	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		9	35						9	35	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	437259	437260	+	5'Flank	DEL	AT	AT	-	rs148097303		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:437259_437260delAT	ENST00000476735.1	-	0	0				Z97634.3_ENST00000412293.1_RNA			Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTAATTCTAAATATATATATAT	0.421																																						ENST00000412293.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:437259_437260delAT	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996		16.37:g.437269_437270delAT	Exception_encountered							NR_024453.2						0	521	+								D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	RNA	DEL	ENST00000476735.1	37																																																																																						0.421	TMEM8A-007	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000313680.1	NM_021259		14	172						14	172	---	---	---	---
BRICD5	283870	broad.mit.edu	37	16	2260586	2260588	+	In_Frame_Del	DEL	CAG	CAG	-	rs371145262		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:2260586_2260588delCAG	ENST00000562360.1	-	2	114_116	c.115_117delCTG	c.(115-117)ctgdel	p.L39del	BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000328540.3_In_Frame_Del_p.L39del|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	39						integral component of membrane (GO:0016021)											CGGCcagcaccagcagcagcagc	0.66																																						ENST00000328540.3																			0											c.(115-117)del		BRICHOS domain containing 5																																				SO:0001651	inframe_deletion	283870							g.chr16:2260586_2260588delCAG	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.115_117delCTG	16.37:g.2260595_2260597delCAG	ENSP00000455052:p.Leu39del					BRICD5_ENST00000566018.1_In_Frame_Del_p.L39del|BRICD5_ENST00000562360.1_In_Frame_Del_p.L39del	p.L39del	NM_182563.3	NP_872369.2					2	1231_1233	-								C9J7K2|Q8IXU9	In_Frame_Del	DEL	ENST00000562360.1	37	c.115_117delCTG	CCDS10463.1																																																																																				0.660	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		7	177						7	177	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-	rs140499762		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_ENST00000569071.1_In_Frame_Del_p.S436del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.S557del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.S436del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.S557del	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(1759-1764)gcc>gc		solute carrier family 5 (sodium/inositol cotransporter), member 11				0,59,4205		0,0,0,0,59,2073						2.3	0.0		dbSNP_134	91	12,151,8089		0,0,12,0,151,3963	no	codingComplex	SLC5A11	NM_052944.2		0,0,12,0,210,6036	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9753,1.3837,1.7737				12,210,12294				SO:0001651	inframe_deletion	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24921737_24921739delCAG	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1761_1763delCAG	16.37:g.24921746_24921748delCAG	ENSP00000289932:p.Ser592del					SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del	p.AS587del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	15	2383_2385	+			587						In_Frame_Del	DEL	ENST00000347898.3	37	c.1761_1763delCAG	CCDS10625.1																																																																																				0.542	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		13	366						13	366	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:30736370_30736371insC	ENST00000262518.4	+	25	6010_6011	c.5625_5626insC	c.(5626-5628)cccfs	p.P1876fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.P1814fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.P1718fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1876	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(5623-5628)caccccfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30736370_30736371insC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5633dupC	16.37:g.30736378_30736378dupC	ENSP00000262518:p.Pro1876fs					SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs	p.HP1875fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	6010_6011	+			1875			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.5625_5626insC	CCDS10689.2																																																																																				0.569	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		10	674						10	674	---	---	---	---
MYLK3	91807	broad.mit.edu	37	16	46744687	46744688	+	Frame_Shift_Ins	INS	-	-	A	rs150139689|rs200890698		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:46744687_46744688insA	ENST00000394809.4	-	11	2243_2244	c.2128_2129insT	c.(2128-2130)tccfs	p.S710fs	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Frame_Shift_Ins_p.S369fs	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	710	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TAGAAATGGGGACAAGCCACTG	0.47																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(2128-2130)cccfs		myosin light chain kinase 3																																				SO:0001589	frameshift_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46744687_46744688insA	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2129dupT	16.37:g.46744688_46744688dupA	ENSP00000378288:p.Ser710fs					MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Frame_Shift_Ins_p.P369fs	p.P710fs	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			11	2243_2244	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	710			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Frame_Shift_Ins	INS	ENST00000394809.4	37	c.2128_2129insT	CCDS10723.2																																																																																				0.470	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		7	959						7	959	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		7	374						7	374	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72822564	72822566	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:72822564_72822566delTGC	ENST00000268489.5	-	10	10281_10283	c.9609_9611delGCA	c.(9607-9612)cagcaa>caa	p.3203_3204QQ>Q	ZFHX3_ENST00000397992.5_In_Frame_Del_p.2289_2290QQ>Q|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3203	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cacctgtggttgctgctgctgct	0.65																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9607-9612)caa>ca		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822564_72822566delTGC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9609_9611delGCA	16.37:g.72822573_72822575delTGC	ENSP00000268489:p.Gln3204del					ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del	p.QQ3203del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10281_10283	-		Ovarian(137;0.13)	3203			Poly-Gln.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.9609_9611delGCA	CCDS10908.1																																																																																				0.650	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		15	561						15	561	---	---	---	---
RP11-150D5.2	0	broad.mit.edu	37	16	76268905	76268905	+	lincRNA	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:76268905delT	ENST00000568714.1	-	0	135																											ttttcttttctttttttttGC	0.418																																						ENST00000568714.1																			0																																																			0							g.chr16:76268905delT																													16.37:g.76268905delT														0	135	-									RNA	DEL	ENST00000568714.1	37																																																																																						0.418	RP11-150D5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000434958.1			8	239						8	239	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578199	7578200	+	Frame_Shift_Ins	INS	-	-	CC	rs35163653	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:7578199_7578200insCC	ENST00000269305.4	-	6	838_839	c.649_650insGG	c.(649-651)gtgfs	p.V217fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.V217fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V217fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V217fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V217fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Ins_p.V217fs	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	217	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in dbSNP:rs35163653).		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.?(11)|p.0?(8)|p.V217A(5)|p.V217E(3)|p.V217G(3)|p.V217L(2)|p.D208fs*1(1)|p.V216fs*28(1)|p.V217fs*33(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V217fs*5(1)|p.V217del(1)|p.S215fs*27(1)|p.S215_V218>M(1)|p.V216_Y220delVVVPY(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(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)	ATAGGGCACCACCACACTATGT	0.545		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"""		44	Substitution - Missense(13)|Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(5)|Deletion - In frame(3)|Insertion - Frameshift(2)|Complex - deletion inframe(2)	p.?(11)|p.0?(8)|p.V217A(5)|p.V217E(3)|p.V217G(3)|p.V217L(2)|p.D208fs*1(1)|p.V216fs*28(1)|p.V217fs*33(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V217fs*5(1)|p.V217del(1)|p.S215fs*27(1)|p.S215_V218>M(1)|p.V216_Y220delVVVPY(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)	oesophagus(6)|biliary_tract(5)|endometrium(5)|central_nervous_system(4)|liver(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|large_intestine(2)|lung(2)|small_intestine(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.(649-651)ggtfs	Other conserved DNA damage response genes	tumor protein p53																																				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.chr17:7578199_7578200insCC	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.648_649dupGG	17.37:g.7578200_7578201dupCC	ENSP00000269305:p.Val217fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Frame_Shift_Ins_p.G217fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G217fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.G217fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G217fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G217fs	p.G217fs	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)	6	781_782	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	217		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in dbSNP:rs35163653).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.649_650insGG	CCDS11118.1																																																																																				0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		66	80						66	80	---	---	---	---
AC005863.1	0	broad.mit.edu	37	17	14673542	14673543	+	lincRNA	INS	-	-	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:14673542_14673543insT	ENST00000379640.1	-	0	354_355																											GCTGGTCCCAGTTTTTTTTTCT	0.45																																						ENST00000379640.1																			0																	4,4260		0,4,2128						0.2	0.0			65	15,8239		0,15,4112	no	intergenic				0,19,6240	A1A1,A1R,RR		0.1817,0.0938,0.1518				19,12499						0							g.chr17:14673542_14673543insT																													17.37:g.14673551_14673551dupT														0	354_355	-									RNA	INS	ENST00000379640.1	37																																																																																						0.450	AC005863.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000130001.1			8	193						8	193	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		10	1331						10	1331	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323																																						ENST00000066544.3																			1	Deletion - Frameshift(1)	p.I91fs*54(1)	ovary(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(271-273)tcfs		cell division cycle 27							84.0	94.0	91.0					17																	45247389		2203	4299	6502	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45247389delT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.271delA	17.37:g.45247389delT	ENSP00000066544:p.Ile91fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000528748.1_5'UTR	p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			4	364	-			91					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.271delA	CCDS11509.1																																																																																				0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			27	867						27	867	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60344516	60344517	+	RNA	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:60344516_60344517insC	ENST00000581291.1	-	0	987_988									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TAAAGGCGATTTTGTTATCGGC	0.599																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60344516_60344517insC			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60344516_60344517insC														0	987_988	-									RNA	INS	ENST00000581291.1	37																																																																																						0.599	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		7	1260						7	1260	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1369-1374)gcagfs		formin homology 2 domain containing 3																																				SO:0001589	frameshift_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261459_34261460delAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs					FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000591635.1_Intron	p.AE457fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			12	1493_1494	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	457					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37	c.1371_1372delAG																																																																																					0.460	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		15	275						15	275	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48584730	48584730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr18:48584730delG	ENST00000342988.3	+	7	1346	c.808delG	c.(808-810)ggafs	p.G270fs	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.G270fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	270					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CACCTGGACTGGAAGTAGGAC	0.443																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|stomach(3)|breast(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(808-810)gafs		SMAD family member 4							124.0	109.0	114.0					18																	48584730		2203	4300	6503	SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48584730delG	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.808delG	18.37:g.48584730delG	ENSP00000341551:p.Gly270fs					SMAD4_ENST00000398417.2_Frame_Shift_Del_p.G270fs|SMAD4_ENST00000588745.1_Intron	p.G270fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	7	1346	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	270					A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.808delG	CCDS11950.1																																																																																				0.443	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		222	217						222	217	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		7	623						7	623	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			11	325						11	325	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-	rs547594353	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					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)					ggaggaggaagaggaggaggagg	0.532																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(901-903)del		GDNF-inducible zinc finger protein 1				7,68,4189		0,0,7,1,66,2058						-8.0	0.0			52	1,62,8191		0,0,1,3,56,4067	no	codingComplex	GZF1	NM_022482.3		0,0,8,4,122,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7633,1.7589,1.1024				8,130,12380				SO:0001651	inframe_deletion	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345921_23345923delGAG	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.901_903delGAG	20.37:g.23345930_23345932delGAG	ENSP00000338290:p.Glu306del					GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000542987.1_Intron	p.E306del			Q9H116	GZF1_HUMAN			2	978_980	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		306					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	In_Frame_Del	DEL	ENST00000338121.5	37	c.901_903delGAG	CCDS13151.1																																																																																				0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		8	326						8	326	---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1183-1185)del		kinesin family member 3B				60,4204		6,48,2078						2.7	1.0			52	101,8153		6,89,4032	no	coding	KIF3B	NM_004798.3		12,137,6110	A1A1,A1R,RR		1.2236,1.4071,1.2861				161,12357				SO:0001651	inframe_deletion	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898763_30898765delGAG	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1183_1185delGAG	20.37:g.30898772_30898774delGAG	ENSP00000364864:p.Glu399del					KIF3B_ENST00000418717.2_Intron	p.E399del	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1350_1352	+			399			Poly-Glu.		B2RMP4|B4DSR5|E1P5M5	In_Frame_Del	DEL	ENST00000375712.3	37	c.1183_1185delGAG	CCDS13200.1																																																																																				0.571	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		7	214						7	214	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52645037	52645037	+	Frame_Shift_Del	DEL	T	T	-	rs143209009		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:52645037delT	ENST00000395961.3	-	4	783	c.617delA	c.(616-618)aagfs	p.K206fs	BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs|BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	206						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACCTGGCACCTTTTCCTGTCC	0.552																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(616-618)agfs		breast carcinoma amplified sequence 1							227.0	209.0	215.0					20																	52645037		2203	4300	6503	SO:0001589	frameshift_variant	8537					cytoplasm	protein binding	g.chr20:52645037delT	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.617delA	20.37:g.52645037delT	ENSP00000379290:p.Lys206fs					BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs	p.K206fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	783	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		206					A0AVG5|Q68CZ3	Frame_Shift_Del	DEL	ENST00000395961.3	37	c.617delA	CCDS13444.1																																																																																				0.552	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		8	1201						8	1201	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C	rs570895195		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	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	235						7	235	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			4	9						4	9	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	Intron	INS	-	-	A	rs551366566|rs370464593		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:18843723_18843724insA	ENST00000412938.1	+	4	2337																											AGGGGCACCCCACGGCCTGGAG	0.619																																						ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18843723_18843724insA																												ENST00000412938.1:c.2337+292->A	22.37:g.18843724_18843724dupA														0	2337	+									RNA	INS	ENST00000412938.1	37																																																																																						0.619	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			7	16						7	16	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38121788	38121789	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:38121788_38121789insC	ENST00000406386.3	+	7	3480_3481	c.3225_3226insC	c.(3226-3228)cccfs	p.P1076fs		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1076					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)					GGGCGTCCTCGCCCCCCCGCCA	0.653																																						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.(3223-3228)tcccccfs		TRIO and F-actin binding protein																																				SO:0001589	frameshift_variant	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.chr22:38121788_38121789insC	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.3232dupC	22.37:g.38121795_38121795dupC	ENSP00000384312:p.Pro1076fs					RP1-37E16.12_ENST00000455236.1_RNA	p.SP1075fs	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3480_3481	+	Melanoma(58;0.0574)		1075					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Frame_Shift_Ins	INS	ENST00000406386.3	37	c.3225_3226insC	CCDS43015.1																																																																																				0.653	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	310						8	310	---	---	---	---
CRELD2	79174	broad.mit.edu	37	22	50315936	50315973	+	Intron	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs377640443|rs562885075|rs542695980|rs113299196|rs7410276|rs12160965|rs371945800|rs386822607|rs386822606|rs564615833|rs368043307|rs71805922|rs386822608|rs73891177|rs553609580	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000328268.4	+	6	666				CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000404488.3_Splice_Site_p.PQQSGPASPI198fs|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2							endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622																																						ENST00000404488.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9						c.e6-1		cysteine-rich with EGF-like domains 2			,	660,2750		176,308,1221					,	-1.2	0.0		dbSNP_130	26	366,6880		58,250,3315	no	intron,frameshift-near-splice	CRELD2	NM_024324.3,NM_001135101.1	,	234,558,4536	A1A1,A1R,RR		5.0511,19.3548,9.6284	,	,		1026,9630				SO:0001627	intron_variant	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.593-287CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG>-	22.37:g.50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG						CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000328268.4_Intron|CRELD2_ENST00000403427.3_Intron	p.198_splice	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	6	727_756	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	197					A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Splice_Site	DEL	ENST00000328268.4	37	c.592_splice	CCDS14082.1																																																																																				0.622	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		19	12						19	12	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		8	491						8	491	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		10	252						10	252	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1444-1446)gccfs		transcription factor binding to IGHM enhancer 3																																				SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887951_48887952insC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs					TFE3_ENST00000493583.1_5'UTR	p.A482fs	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1704_1705	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	ENST00000315869.7	37	c.1445_1446insG	CCDS14315.3																																																																																				0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		7	656						7	656	---	---	---	---
PJA1	64219	broad.mit.edu	37	X	68382257	68382257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:68382257delA	ENST00000361478.1	-	2	1202	c.825delT	c.(823-825)tttfs	p.F275fs	PJA1_ENST00000374583.1_Frame_Shift_Del_p.F275fs|PJA1_ENST00000374571.4_Frame_Shift_Del_p.F220fs|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000477231.1_5'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	275					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CATCAGTATCAAAAAAAATTT	0.493																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(823-825)ttfs		praja ring finger 1, E3 ubiquitin protein ligase							68.0	62.0	64.0					X																	68382257		2203	4300	6503	SO:0001589	frameshift_variant	64219						zinc ion binding	g.chrX:68382257delA	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.825delT	X.37:g.68382257delA	ENSP00000355014:p.Phe275fs					PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Frame_Shift_Del_p.F220fs|PJA1_ENST00000374583.1_Frame_Shift_Del_p.F275fs|PJA1_ENST00000374584.3_Intron	p.F275fs	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	1202	-			275					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Frame_Shift_Del	DEL	ENST00000361478.1	37	c.825delT	CCDS14393.1																																																																																				0.493	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		7	616						7	616	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	212						7	212	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107430450	107430450	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:107430450delT	ENST00000372216.4	-	23	1930	c.1830delA	c.(1828-1830)aaafs	p.K610fs	COL4A6_ENST00000394872.2_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	610	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGGATGGCCTTTTTCACCAG	0.512									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1828-1830)aafs		collagen, type IV, alpha 6							127.0	118.0	121.0					X																	107430450		2203	4300	6503	SO:0001589	frameshift_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107430450delT	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1830delA	X.37:g.107430450delT	ENSP00000361290:p.Lys610fs					COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000372216.4_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs	p.K610fs			Q14031	CO4A6_HUMAN			23	2061	-			610			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Frame_Shift_Del	DEL	ENST00000372216.4	37	c.1830delA	CCDS14541.1																																																																																				0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			7	1199						7	1199	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171.0	156.0	161.0					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		8	1365						8	1365	---	---	---	---
