#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
MROH2B	133558	broad.mit.edu	37	5	41012689	41012689	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:41012689T>C	ENST00000399564.4	-	30	3581	c.3131A>G	c.(3130-3132)gAt>gGt	p.D1044G	MROH2B_ENST00000506092.2_Missense_Mutation_p.D599G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1044																	GTTCACCTGATCTTCCAGAGC	0.488																																						ENST00000399564.4																			0											c.(3130-3132)gAt>gGt		maestro heat-like repeat family member 2B							72.0	73.0	73.0					5																	41012689		1974	4175	6149	SO:0001583	missense	133558							g.chr5:41012689T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3131A>G	5.37:g.41012689T>C	ENSP00000382476:p.Asp1044Gly					MROH2B_ENST00000506092.2_Missense_Mutation_p.D599G	p.D1044G	NM_173489.4	NP_775760.3					30	3581	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3131A>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.773247	0.31411	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.06142	3.34;3.34	6.04	4.89	0.63831	Armadillo-like helical (1);Armadillo-type fold (1);	0.625324	0.15862	N	0.240956	T	0.07324	0.0185	L	0.46157	1.445	0.31635	N	0.648568	B	0.10296	0.003	B	0.08055	0.003	T	0.01688	-1.1295	10	0.66056	D	0.02	.	8.1121	0.30920	0.0:0.0872:0.0:0.9128	.	1044	Q7Z745	HTRB2_HUMAN	G	599;749;1044	ENSP00000441504:D599G;ENSP00000382476:D1044G	ENSP00000296803:D749G	D	-	2	0	HEATR7B2	41048446	0.971000	0.33674	0.995000	0.50966	0.435000	0.31806	2.394000	0.44450	2.317000	0.78254	0.459000	0.35465	GAT		0.488	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		30	44	0	0	0	0.041601	0	30	44				
KCNB2	9312	broad.mit.edu	37	8	73849587	73849587	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr8:73849587C>T	ENST00000523207.1	+	3	2585	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	666					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGGGATGGCACGCTGGAGTAT	0.562																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1996-1998)aCg>aTg		potassium voltage-gated channel, Shab-related subfamily, member 2							54.0	54.0	54.0					8																	73849587		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849587C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1997C>T	8.37:g.73849587C>T	ENSP00000430846:p.Thr666Met						p.T666M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2585	+	Breast(64;0.137)		666					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1997C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	T	0.081	-1.183592	0.01620	.	.	ENSG00000182674	ENST00000523207	T	0.25085	1.82	4.53	-0.951	0.10369	.	6.807010	0.01997	N	0.045941	T	0.23806	0.0576	L	0.48642	1.525	0.09310	N	1	P	0.40602	0.723	B	0.39660	0.306	T	0.12167	-1.0558	10	0.30078	T	0.28	.	5.3601	0.16083	0.1075:0.5522:0.2095:0.1308	.	666	Q92953	KCNB2_HUMAN	M	666	ENSP00000430846:T666M	ENSP00000430846:T666M	T	+	2	0	KCNB2	74012141	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	0.726000	0.25984	-0.703000	0.05049	-1.178000	0.01721	ACG		0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		34	45	0	0	0	0.012213	0	34	45				
LOC101927079	101927079	broad.mit.edu	37	15	22332530	22332530	+	RNA	SNP	G	G	T	rs529521908		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr15:22332530G>T	ENST00000558896.1	+	0	337																											ATTGTCCTGGGAAACCTCTTG	0.393																																						ENST00000558896.1																			0																																																			0							g.chr15:22332530G>T																													15.37:g.22332530G>T														0	337	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.393	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			60	238	1	0	2.69953e-25	0.014410	3.62306e-25	60	238				
BMS1P20	96610	broad.mit.edu	37	22	22662995	22662995	+	RNA	SNP	C	C	T	rs79792109		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr22:22662995C>T	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		TTTATTGTGTCACATAGAATT	0.348																																						ENST00000426066.1																			0																																																			0							g.chr22:22662995C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22662995C>T								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	26	0	0	0	0.009096	0	3	26				
SLC4A7	9497	broad.mit.edu	37	3	27444777	27444777	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:27444777A>G	ENST00000295736.5	-	15	2217	c.2147T>C	c.(2146-2148)gTg>gCg	p.V716A	SLC4A7_ENST00000455077.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000446700.1_Missense_Mutation_p.V708A|SLC4A7_ENST00000440156.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000437179.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000445684.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000388777.4_Missense_Mutation_p.V266A|SLC4A7_ENST00000428386.1_Missense_Mutation_p.V592A|SLC4A7_ENST00000435667.2_Missense_Mutation_p.V601A|SLC4A7_ENST00000454389.1_Missense_Mutation_p.V725A|SLC4A7_ENST00000425128.2_3'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	716					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	AATATAACACACAAGGCTGCT	0.378																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2146-2148)gTg>gCg		solute carrier family 4, sodium bicarbonate cotransporter, member 7							105.0	105.0	105.0					3																	27444777		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27444777A>G	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2147T>C	3.37:g.27444777A>G	ENSP00000295736:p.Val716Ala					SLC4A7_ENST00000446700.1_Missense_Mutation_p.V708A|SLC4A7_ENST00000437179.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.V725A|SLC4A7_ENST00000388777.4_Missense_Mutation_p.V266A|SLC4A7_ENST00000455077.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000440156.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000435667.2_Missense_Mutation_p.V601A|SLC4A7_ENST00000445684.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000428386.1_Missense_Mutation_p.V592A	p.V716A	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			15	2217	-			716					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2147T>C	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.012858	0.93346	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.14	5.14	0.70334	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	M	0.92077	3.27	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.993;0.989;0.993;0.999;0.993;0.987;0.987;0.993;0.989	D;D;D;D;D;D;D;D;D	0.87578	0.959;0.957;0.94;0.998;0.959;0.934;0.928;0.959;0.957	D	0.95325	0.8424	10	0.87932	D	0	.	14.9553	0.71107	1.0:0.0:0.0:0.0	.	712;597;708;712;725;266;592;716;597	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	A	267;716;592;725;712;597;708;597;712;601;266;612	ENSP00000411031:V267A;ENSP00000295736:V716A;ENSP00000416368:V592A;ENSP00000390394:V725A;ENSP00000414797:V712A;ENSP00000394252:V597A;ENSP00000406605:V708A;ENSP00000407382:V597A;ENSP00000406804:V712A;ENSP00000395336:V601A;ENSP00000373429:V266A;ENSP00000388703:V612A	ENSP00000295736:V716A	V	-	2	0	SLC4A7	27419781	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	1.945000	0.56424	0.459000	0.35465	GTG		0.378	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		67	77	0	0	0	0.014410	0	67	77				
ALDH1B1	219	broad.mit.edu	37	9	38396046	38396046	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr9:38396046C>T	ENST00000377698.3	+	2	454	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	101					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		TGCCTCTGAGCGGGGCCGGCT	0.647																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(301-303)Cgg>Tgg		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						68.0	77.0	74.0					9																	38396046		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396046C>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.301C>T	9.37:g.38396046C>T	ENSP00000366927:p.Arg101Trp						p.R101W	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	454	+			101					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.301C>T	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697582	0.68386	.	.	ENSG00000137124	ENST00000377698	D	0.88431	-2.38	5.61	4.63	0.57726	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.56097	D	0.000033	D	0.97253	0.9102	H	0.99877	4.88	0.46416	D	0.999034	D	0.89917	1.0	D	0.97110	1.0	D	0.98233	1.0484	10	0.87932	D	0	.	14.8272	0.70122	0.1537:0.8463:0.0:0.0	.	101	P30837	AL1B1_HUMAN	W	101	ENSP00000366927:R101W	ENSP00000366927:R101W	R	+	1	2	ALDH1B1	38386046	0.618000	0.27051	0.996000	0.52242	0.998000	0.95712	0.622000	0.24433	2.650000	0.89964	0.655000	0.94253	CGG		0.647	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			47	86	0	0	0	0.014410	0	47	86				
SRSF3	6428	broad.mit.edu	37	6	36569524	36569524	+	Silent	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr6:36569524T>C	ENST00000373715.6	+	5	536	c.420T>C	c.(418-420)tcT>tcC	p.S140S		NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	140	2 X approximate repeats, basic.|Arg/Ser-rich (RS domain).				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)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GATCGCTGTCTCGGGAGAGAA	0.373																																						ENST00000373715.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(418-420)tcT>tcC		serine/arginine-rich splicing factor 3							150.0	160.0	156.0					6																	36569524		2203	4300	6503	SO:0001819	synonymous_variant	6428				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:36569524T>C	L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10785	protein-coding gene	gene with protein product		603364	"""splicing factor, arginine/serine-rich 3"""	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.420T>C	6.37:g.36569524T>C							p.S140S	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN			5	536	+			140			2 X approximate repeats, basic.|Arg/Ser-rich (RS domain).		B4E241|O08831|P23152|Q5R3K0	Silent	SNP	ENST00000373715.6	37	c.420T>C	CCDS4823.1																																																																																				0.373	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040347.2	NM_003017		6	192	0	0	0	0.038147	0	6	192				
OR10J3	441911	broad.mit.edu	37	1	159284385	159284385	+	Missense_Mutation	SNP	C	C	T	rs188688506	byFrequency	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:159284385C>T	ENST00000332217.5	-	1	64	c.65G>A	c.(64-66)cGg>cAg	p.R22Q		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R22Q(1)|p.R22L(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGTGCTGCCGCCTGAAGCT	0.453													C|||	2	0.000399361	0.0	0.0	5008	,	,		22168	0.0		0.002	False		,,,				2504	0.0					ENST00000332217.5																			2	Substitution - Missense(2)	p.R22Q(1)|p.R22L(1)	ovary(1)|lung(1)	breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(64-66)cGg>cAg		olfactory receptor, family 10, subfamily J, member 3		C	GLN/ARG	0,4406		0,0,2203	178.0	186.0	183.0		65	5.1	1.0	1		183	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR10J3	NM_001004467.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	22/330	159284385	1,13005	2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284385C>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.65G>A	1.37:g.159284385C>T	ENSP00000331789:p.Arg22Gln						p.R22Q	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	64	-	all_hematologic(112;0.0429)		22						Missense_Mutation	SNP	ENST00000332217.5	37	c.65G>A	CCDS30909.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	4.379	0.069897	0.08436	0.0	1.16E-4	ENSG00000196266	ENST00000332217	T	0.02974	4.09	5.13	5.13	0.70059	.	0.000000	0.29609	U	0.011678	T	0.00440	0.0014	N	0.11364	0.135	0.25944	N	0.982837	P	0.51351	0.944	B	0.28916	0.096	T	0.46303	-0.9201	10	0.10636	T	0.68	.	9.4856	0.38928	0.0:0.9069:0.0:0.0931	.	22	Q5JRS4	O10J3_HUMAN	Q	22	ENSP00000331789:R22Q	ENSP00000331789:R22Q	R	-	2	0	OR10J3	157551009	0.524000	0.26282	0.969000	0.41365	0.020000	0.10135	1.293000	0.33353	2.653000	0.90120	0.561000	0.74099	CGG		0.453	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			104	168	0	0	0	0.014410	0	104	168				
ITIH2	3698	broad.mit.edu	37	10	7786812	7786812	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:7786812T>C	ENST00000358415.4	+	19	2633	c.2467T>C	c.(2467-2469)Tcc>Ccc	p.S823P	ITIH2_ENST00000379587.4_Missense_Mutation_p.S812P	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	823					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAAAGAGATGTCCTTTTCTGT	0.418																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2467-2469)Tcc>Ccc		inter-alpha-trypsin inhibitor heavy chain 2							153.0	142.0	146.0					10																	7786812		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7786812T>C	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2467T>C	10.37:g.7786812T>C	ENSP00000351190:p.Ser823Pro					ITIH2_ENST00000379587.4_Missense_Mutation_p.S812P	p.S823P	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			19	2633	+			823					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2467T>C	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302604	0.60195	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.12465	2.68;2.68	5.79	5.79	0.91817	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.504726	0.22346	N	0.061280	T	0.30823	0.0777	M	0.80183	2.485	0.30630	N	0.757559	D	0.56521	0.976	P	0.54210	0.745	T	0.43294	-0.9400	10	0.66056	D	0.02	-8.8167	11.2291	0.48901	0.1367:0.0:0.0:0.8633	.	823	P19823	ITIH2_HUMAN	P	823;812	ENSP00000351190:S823P;ENSP00000368906:S812P	ENSP00000351190:S823P	S	+	1	0	ITIH2	7826818	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	3.591000	0.53986	2.209000	0.71365	0.482000	0.46254	TCC		0.418	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		23	48	0	0	0	0.012319	0	23	48				
MYOCD	93649	broad.mit.edu	37	17	12666629	12666629	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:12666629G>A	ENST00000343344.4	+	13	2485	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	MYOCD_ENST00000425538.1_Missense_Mutation_p.G877R|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin	829					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTAAAAATTGGGAGCGAAGA	0.483																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(2629-2631)Ggg>Agg		myocardin							73.0	70.0	71.0					17																	12666629		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666629G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2485G>A	17.37:g.12666629G>A	ENSP00000341835:p.Gly829Arg					MYOCD_ENST00000343344.4_Missense_Mutation_p.G829R|RP11-1090M7.1_ENST00000584772.1_RNA	p.G877R	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	14	2829	+			829					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2629G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208400	0.58343	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.47177	0.85;0.86	6.08	6.08	0.98989	.	0.166924	0.52532	D	0.000066	T	0.68421	0.2999	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.976;0.989;0.976	T	0.67806	-0.5575	10	0.72032	D	0.01	-23.1767	19.4349	0.94788	0.0:0.0:1.0:0.0	.	553;877;829	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	R	553;877;829;539	ENSP00000341835:G829R;ENSP00000400148:G539R	ENSP00000341835:G829R	G	+	1	0	MYOCD	12607354	1.000000	0.71417	0.827000	0.32855	0.071000	0.16799	5.649000	0.67936	2.894000	0.99253	0.655000	0.94253	GGG		0.483	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		13	107	0	0	0	0.016723	0	13	107				
FMOD	2331	broad.mit.edu	37	1	203316483	203316483	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:203316483G>C	ENST00000354955.4	-	2	1379	c.916C>G	c.(916-918)Cag>Gag	p.Q306E	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	306					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGATCTTCTGCAGCTGGTTG	0.557																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(916-918)Cag>Gag		fibromodulin							148.0	138.0	141.0					1																	203316483		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316483G>C	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.916C>G	1.37:g.203316483G>C	ENSP00000347041:p.Gln306Glu					FMOD_ENST00000464898.1_5'UTR	p.Q306E	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1379	-			306					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.916C>G	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	6.534	0.466856	0.12402	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.04156	3.69	5.27	5.27	0.74061	.	0.310660	0.35179	N	0.003387	T	0.02767	0.0083	N	0.05078	-0.115	0.38647	D	0.951751	B	0.11235	0.004	B	0.04013	0.001	T	0.53528	-0.8426	10	0.17832	T	0.49	-11.808	12.5816	0.56393	0.0:0.0:0.8341:0.1659	.	306	Q06828	FMOD_HUMAN	E	293;306	ENSP00000347041:Q306E	ENSP00000347041:Q306E	Q	-	1	0	FMOD	201583106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.690000	0.61731	2.461000	0.83175	0.655000	0.94253	CAG		0.557	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		5	158	0	0	0	0.014758	0	5	158				
CTSC	1075	broad.mit.edu	37	11	88042410	88042410	+	Missense_Mutation	SNP	T	T	C	rs374844651		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr11:88042410T>C	ENST00000227266.5	-	4	676	c.562A>G	c.(562-564)Act>Gct	p.T188A		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	188					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGTATGTAGTTGCAGTCCAA	0.388																																						ENST00000227266.5																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(562-564)Act>Gct		cathepsin C		T	ALA/THR	1,4401	2.1+/-5.4	0,1,2200	165.0	143.0	151.0		562	4.8	1.0	11		151	0,8598		0,0,4299	no	missense	CTSC	NM_001814.4	58	0,1,6499	CC,CT,TT		0.0,0.0227,0.0077	benign	188/464	88042410	1,12999	2201	4299	6500	SO:0001583	missense	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88042410T>C	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.562A>G	11.37:g.88042410T>C	ENSP00000227266:p.Thr188Ala						p.T188A	NM_001814.4	NP_001805.3	P53634	CATC_HUMAN			4	676	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	188					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.562A>G	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.669632	0.47677	2.27E-4	0.0	ENSG00000109861	ENST00000393302;ENST00000227266	D	0.83335	-1.71	5.91	4.78	0.61160	.	0.264374	0.43260	N	0.000600	T	0.78136	0.4236	L	0.54323	1.7	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.13407	0.005;0.009	T	0.70813	-0.4770	9	.	.	.	.	11.6512	0.51290	0.0:0.0698:0.0:0.9302	.	171;188	B4DJQ8;P53634	.;CATC_HUMAN	A	171;188	ENSP00000227266:T188A	.	T	-	1	0	CTSC	87682058	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	2.228000	0.42981	1.059000	0.40554	0.528000	0.53228	ACT		0.388	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		33	47	0	0	0	0.017118	0	33	47				
BICD1	636	broad.mit.edu	37	12	32480873	32480873	+	Missense_Mutation	SNP	A	A	G	rs116296656	byFrequency	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:32480873A>G	ENST00000281474.5	+	5	1587	c.1484A>G	c.(1483-1485)aAc>aGc	p.N495S	BICD1_ENST00000548411.1_Missense_Mutation_p.N495S	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	495					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCATAGCCAACGAAAATCAC	0.458													A|||	3	0.000599042	0.0	0.0	5008	,	,		20985	0.003		0.0	False		,,,				2504	0.0					ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1483-1485)aAc>aGc		bicaudal D homolog 1 (Drosophila)							148.0	121.0	130.0					12																	32480873		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480873A>G	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1484A>G	12.37:g.32480873A>G	ENSP00000281474:p.Asn495Ser					BICD1_ENST00000281474.5_Missense_Mutation_p.N495S	p.N495S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1665	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		495					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1484A>G	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	A	0.079	-1.186406	0.01620	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.40225	1.04;1.04	5.57	4.32	0.51571	.	0.124349	0.53938	D	0.000046	T	0.22003	0.0530	N	0.10809	0.05	0.80722	D	1	B;B	0.22909	0.008;0.077	B;B	0.24848	0.011;0.056	T	0.04930	-1.0917	10	0.13108	T	0.6	.	9.5991	0.39591	0.8987:0.0:0.1013:0.0	.	495;495	F8W113;Q96G01	.;BICD1_HUMAN	S	495	ENSP00000446793:N495S;ENSP00000281474:N495S	ENSP00000281474:N495S	N	+	2	0	BICD1	32372140	0.978000	0.34361	0.977000	0.42913	0.680000	0.39746	2.667000	0.46808	0.811000	0.34303	0.533000	0.62120	AAC		0.458	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		29	57	0	0	0	0.027356	0	29	57				
LBP	3929	broad.mit.edu	37	20	36983811	36983811	+	Splice_Site	SNP	T	T	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr20:36983811T>A	ENST00000217407.2	+	5	749		c.e5+2			NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein						acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGCAGGGTAAGAAGGTCC	0.572																																						ENST00000217407.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.e5+2		lipopolysaccharide binding protein							76.0	60.0	65.0					20																	36983811		2202	4300	6502	SO:0001630	splice_region_variant	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36983811T>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.588+2T>A	20.37:g.36983811T>A								NM_004139.3	NP_004130.2	P18428	LBP_HUMAN			5	749	+		Myeloproliferative disorder(115;0.00878)						B2R938|O43438|Q92672|Q9H403|Q9UD66	Splice_Site	SNP	ENST00000217407.2	37		CCDS13304.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.914749	0.33815	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0108	0.53286	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LBP	36417225	1.000000	0.71417	0.941000	0.38009	0.161000	0.22273	3.917000	0.56424	2.333000	0.79357	0.533000	0.62120	.		0.572	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139	Intron	8	35	0	0	0	0.038147	0	8	35				
DCST2	127579	broad.mit.edu	37	1	155005617	155005617	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:155005617A>C	ENST00000368424.3	-	2	450	c.392T>G	c.(391-393)cTg>cGg	p.L131R	DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000392480.1_5'Flank|DCST2_ENST00000295536.5_Missense_Mutation_p.L131R|DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000423025.2_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	131						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTCTGGTTCAGGGCCAGCTC	0.632																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(391-393)cTg>cGg		DC-STAMP domain containing 2							49.0	43.0	45.0					1																	155005617		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:155005617A>C	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.392T>G	1.37:g.155005617A>C	ENSP00000357409:p.Leu131Arg					DCST2_ENST00000295536.5_Missense_Mutation_p.L131R	p.L131R	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	450	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		131					Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.392T>G	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470292	0.43942	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.25912	1.77;1.82	4.75	4.75	0.60458	.	0.533626	0.16205	N	0.224755	T	0.11836	0.0288	L	0.57536	1.79	0.28782	N	0.899789	B	0.28636	0.218	B	0.28638	0.092	T	0.10382	-1.0632	10	0.22706	T	0.39	-17.5759	11.8579	0.52449	1.0:0.0:0.0:0.0	.	131	Q5T1A1	DCST2_HUMAN	R	131	ENSP00000357409:L131R;ENSP00000295536:L131R	ENSP00000295536:L131R	L	-	2	0	DCST2	153272241	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	3.298000	0.51818	2.007000	0.58848	0.379000	0.24179	CTG		0.632	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		9	14	0	0	0	0.004482	0	9	14				
LPAR5	57121	broad.mit.edu	37	12	6729924	6729924	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:6729924C>T	ENST00000329858.4	-	2	1247	c.491G>A	c.(490-492)cGt>cAt	p.R164H	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.R164H	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GTAGCGGCAACGCGAGGGCCT	0.726																																					NSCLC(74;891 2312 37538)	ENST00000329858.4																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(490-492)cGt>cAt		lysophosphatidic acid receptor 5							7.0	9.0	9.0					12																	6729924		2125	4238	6363	SO:0001583	missense	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6729924C>T	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.491G>A	12.37:g.6729924C>T	ENSP00000327875:p.Arg164His					LPAR5_ENST00000431922.1_Missense_Mutation_p.R164H|LPAR5_ENST00000540335.1_5'UTR	p.R164H	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN			2	1247	-			164						Missense_Mutation	SNP	ENST00000329858.4	37	c.491G>A	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800438	0.16397	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.37058	1.22;1.22	4.99	-3.94	0.04130	GPCR, rhodopsin-like superfamily (1);	1.397770	0.04655	N	0.407845	T	0.18676	0.0448	N	0.16368	0.405	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.11867	-1.0570	10	0.41790	T	0.15	.	1.6769	0.02823	0.1537:0.2956:0.1603:0.3905	.	164	Q9H1C0	LPAR5_HUMAN	H	164	ENSP00000327875:R164H;ENSP00000393098:R164H	ENSP00000327875:R164H	R	-	2	0	LPAR5	6600185	0.000000	0.05858	0.003000	0.11579	0.184000	0.23303	-2.342000	0.01099	-1.089000	0.03073	-0.397000	0.06425	CGT		0.726	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		4	9	0	0	0	0.014758	0	4	9				
KIF9	64147	broad.mit.edu	37	3	47284702	47284702	+	Silent	SNP	A	A	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:47284702A>G	ENST00000265529.3	-	17	2228	c.1548T>C	c.(1546-1548)ccT>ccC	p.P516P	KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Silent_p.P516P|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000335044.2_Silent_p.P516P|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000487440.1_5'UTR			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	516					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCCATTCACAGGGCTGCTGG	0.552																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1546-1548)ccT>ccC		kinesin family member 9							85.0	66.0	73.0					3																	47284702		2203	4300	6503	SO:0001819	synonymous_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47284702A>G	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1548T>C	3.37:g.47284702A>G						KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000265529.3_Silent_p.P516P|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Silent_p.P516P|KIF9_ENST00000444589.2_Intron	p.P516P	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	1905	-		Acute lymphoblastic leukemia(5;0.164)	516					Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	c.1548T>C	CCDS2752.1																																																																																				0.552	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			3	41	0	0	0	0.004672	0	3	41				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	47	0	0	0	0.009096	0	3	47				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	43	0	0	0	0.017118	0	31	43				
WNK1	65125	broad.mit.edu	37	12	999632	999632	+	Missense_Mutation	SNP	C	C	T	rs371264719		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:999632C>T	ENST00000315939.6	+	22	6105	c.5462C>T	c.(5461-5463)gCg>gTg	p.A1821V	WNK1_ENST00000340908.4_Missense_Mutation_p.A1414V|WNK1_ENST00000530271.2_Missense_Mutation_p.A2319V|WNK1_ENST00000537687.1_Missense_Mutation_p.A2081V|WNK1_ENST00000535572.1_Missense_Mutation_p.A1574V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1821					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTCCATGGCGGCTCCAACA	0.463																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(6241-6243)gCg>gTg		WNK lysine deficient protein kinase 1		T	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	826.1+/-416.6	0,1,2202	137.0	125.0	129.0		6218,5462,4721,6242	1.3	0.7	12		129	0,8600		0,0,4300	no	missense,missense,missense,missense	WNK1	NM_213655.4,NM_018979.3,NM_014823.2,NM_001184985.1	64,64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	2073/2635,1821/2383,1574/2135,2081/2643	999632	1,13005	2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:999632C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5462C>T	12.37:g.999632C>T	ENSP00000313059:p.Ala1821Val					WNK1_ENST00000340908.4_Missense_Mutation_p.A1414V|WNK1_ENST00000535572.1_Missense_Mutation_p.A1574V|WNK1_ENST00000530271.2_Missense_Mutation_p.A2319V|WNK1_ENST00000315939.6_Missense_Mutation_p.A1821V	p.A2081V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		22	6885	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1821					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.6242C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	T	0.094	-1.161828	0.01673	2.27E-4	0.0	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.06	1.3	0.21679	.	0.576229	0.16749	N	0.201105	T	0.06416	0.0165	N	0.01048	-1.04	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.34750	-0.9816	10	0.18276	T	0.48	0.0017	3.5613	0.07884	0.1573:0.2635:0.0:0.5792	.	1574;1574;1821	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	V	1574;1821;2081;994;2319;1414	ENSP00000441972:A1574V;ENSP00000313059:A1821V;ENSP00000444465:A2081V;ENSP00000433548:A2319V;ENSP00000341292:A1414V	ENSP00000252477:A994V	A	+	2	0	WNK1	869893	0.996000	0.38824	0.746000	0.31095	0.091000	0.18340	0.353000	0.20130	-0.096000	0.12329	-0.254000	0.11334	GCG		0.463	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		4	79	0	0	0	0.021553	0	4	79				
CENPJ	55835	broad.mit.edu	37	13	25486836	25486836	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr13:25486836C>T	ENST00000381884.4	-	2	513	c.328G>A	c.(328-330)Gca>Aca	p.A110T	CENPJ_ENST00000545981.1_Missense_Mutation_p.A110T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	110					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTGTGACATGCCGCTACCTGT	0.433																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(328-330)Gca>Aca		centromere protein J							178.0	164.0	168.0					13																	25486836		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25486836C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.328G>A	13.37:g.25486836C>T	ENSP00000371308:p.Ala110Thr					CENPJ_ENST00000545981.1_Missense_Mutation_p.A110T	p.A110T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	2	513	-		Lung SC(185;0.0225)|Breast(139;0.0602)	110					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.328G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	3.202	-0.163415	0.06502	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.17854	2.25;2.25	5.54	-0.345	0.12624	.	0.422313	0.22724	N	0.056402	T	0.08403	0.0209	L	0.41079	1.255	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.38779	-0.9645	10	0.02654	T	1	.	2.7833	0.05367	0.3517:0.2862:0.0:0.3621	.	110	Q9HC77	CENPJ_HUMAN	T	110	ENSP00000371308:A110T;ENSP00000441090:A110T	ENSP00000371308:A110T	A	-	1	0	CENPJ	24384836	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.162000	0.10012	-0.004000	0.14419	0.655000	0.94253	GCA		0.433	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		4	133	0	0	0	0.009096	0	4	133				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74801804	74801804	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:74801804T>C	ENST00000370899.3	+	9	993	c.956T>C	c.(955-957)cTc>cCc	p.L319P	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.L319P|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.L332P|TNNI3K_ENST00000370891.2_Missense_Mutation_p.L319P|TNNI3K_ENST00000326637.3_Missense_Mutation_p.L218P	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		ATTGCAAAACTCTTGATGGAA	0.353																																						ENST00000370895.1																			0											c.(955-957)cTc>cCc									91.0	87.0	88.0					1																	74801804		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74801804T>C			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.956T>C	1.37:g.74801804T>C	ENSP00000359936:p.Leu319Pro					TNNI3K_ENST00000370891.2_Missense_Mutation_p.L319P|TNNI3K_ENST00000326637.3_Missense_Mutation_p.L218P|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.L319P|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.L319P	p.L319P			Q59H18	TNI3K_HUMAN			9	991	+			218						Missense_Mutation	SNP	ENST00000370899.3	37	c.956T>C		.	.	.	.	.	.	.	.	.	.	T	21.5	4.158976	0.78226	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.70164	-0.38;-0.38;-0.46;-0.46;-0.38	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	T	0.82006	0.4943	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.984;0.984;0.998	D	0.85962	0.1471	10	0.66056	D	0.02	.	15.0968	0.72242	0.0:0.0:0.0:1.0	.	218;319;319;319	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	P	319;319;319;319;218	ENSP00000359936:L319P;ENSP00000359932:L319P;ENSP00000450895:L319P;ENSP00000359928:L319P;ENSP00000322251:L218P	ENSP00000322251:L218P	L	+	2	0	RP11-653A5.2;AC093158.1	74574392	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.334000	0.79224	2.155000	0.67459	0.477000	0.44152	CTC		0.353	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			22	43	0	0	0	0.012319	0	22	43				
COG3	83548	broad.mit.edu	37	13	46092961	46092961	+	Silent	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr13:46092961T>C	ENST00000349995.5	+	18	2107	c.1995T>C	c.(1993-1995)aaT>aaC	p.N665N		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	665					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATAGCAACAATGCCTTGATAG	0.393																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(1993-1995)aaT>aaC		component of oligomeric golgi complex 3							128.0	119.0	122.0					13																	46092961		2203	4300	6503	SO:0001819	synonymous_variant	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46092961T>C	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1995T>C	13.37:g.46092961T>C							p.N665N	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	18	2107	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	665					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Silent	SNP	ENST00000349995.5	37	c.1995T>C	CCDS9398.1																																																																																				0.393	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			27	76	0	0	0	0.034045	0	27	76				
AKNAD1	254268	broad.mit.edu	37	1	109380254	109380254	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:109380254T>C	ENST00000370001.3	-	7	1722	c.1454A>G	c.(1453-1455)tAt>tGt	p.Y485C	AKNAD1_ENST00000369995.3_Missense_Mutation_p.Y485C|AKNAD1_ENST00000369994.1_Missense_Mutation_p.Y485C|AKNAD1_ENST00000357393.4_Missense_Mutation_p.Y192C	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	485						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGCTGAAGTATATTTGCTTTC	0.403																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1453-1455)tAt>tGt		AKNA domain containing 1							215.0	190.0	198.0					1																	109380254		2203	4300	6503	SO:0001583	missense	254268							g.chr1:109380254T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1454A>G	1.37:g.109380254T>C	ENSP00000359018:p.Tyr485Cys					AKNAD1_ENST00000369995.3_Missense_Mutation_p.Y485C|AKNAD1_ENST00000369994.1_Missense_Mutation_p.Y485C|AKNAD1_ENST00000357393.4_Missense_Mutation_p.Y192C	p.Y485C	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			7	1722	-			485					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1454A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	10.33	1.320988	0.23994	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.14391	3.27;2.51;3.27;3.26	5.72	-8.74	0.00838	.	2.699470	0.00950	N	0.002953	T	0.02083	0.0065	N	0.12182	0.205	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.08055	0.003;0.002	T	0.32798	-0.9893	10	0.38643	T	0.18	1.5494	10.0799	0.42384	0.0:0.5434:0.2513:0.2053	.	192;485	B4DET8;Q5T1N1	.;AKND1_HUMAN	C	485;192;485;485	ENSP00000359018:Y485C;ENSP00000349968:Y192C;ENSP00000359011:Y485C;ENSP00000359012:Y485C	ENSP00000349968:Y192C	Y	-	2	0	AKNAD1	109181777	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.383000	0.02544	-1.054000	0.03214	0.460000	0.39030	TAT		0.403	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		12	98	0	0	0	0.010729	0	12	98				
FLG	2312	broad.mit.edu	37	1	152280725	152280725	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:152280725C>G	ENST00000368799.1	-	3	6672	c.6637G>C	c.(6637-6639)Gct>Cct	p.A2213P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2213	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAGAGGAAGCTTCATGATGA	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6637-6639)Gct>Cct		filaggrin							368.0	332.0	345.0					1																	152280725		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280725C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6637G>C	1.37:g.152280725C>G	ENSP00000357789:p.Ala2213Pro					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A2213P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6672	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2213			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6637G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	1.552	-0.539031	0.04053	.	.	ENSG00000143631	ENST00000368799	T	0.04049	3.72	1.64	-3.28	0.05033	.	.	.	.	.	T	0.01870	0.0059	M	0.76170	2.325	0.09310	N	1	D	0.59357	0.985	P	0.45577	0.486	T	0.13656	-1.0501	9	0.30078	T	0.28	.	0.5309	0.00628	0.1819:0.3079:0.1817:0.3285	.	2213	P20930	FILA_HUMAN	P	2213	ENSP00000357789:A2213P	ENSP00000357789:A2213P	A	-	1	0	FLG	150547349	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.815000	0.01222	-0.333000	0.08304	GCT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	537	0	0	0	0.006214	0	10	537				
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:7577129A>G	ENST00000269305.4	-	8	998	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_ENST00000359597.4_Missense_Mutation_p.F270S|TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.F270S|TP53_ENST00000455263.2_Missense_Mutation_p.F270S	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	270	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(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)	ACGCACCTCAAAGCTGTTCCG	0.537		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"""		48	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(2)	p.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)	oesophagus(10)|breast(8)|upper_aerodigestive_tract(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(2)|ovary(2)|salivary_gland(1)|lung(1)|eye(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.(808-810)tTt>tCt	Other conserved DNA damage response genes	tumor protein p53							57.0	50.0	53.0					17																	7577129		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577129A>G	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.809T>C	17.37:g.7577129A>G	ENSP00000269305:p.Phe270Ser	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_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000359597.4_Missense_Mutation_p.F270S|TP53_ENST00000269305.4_Missense_Mutation_p.F270S	p.F270S	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)	8	941	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	270		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.809T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262404	0.80358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99815	-6.9;-6.9;-6.9;-6.9;-6.9;-6.9	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	M	0.86740	2.835	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.994;1.0;0.999	D;D;D;D	0.83275	0.996;0.931;0.996;0.996	D	0.96817	0.9601	10	0.87932	D	0	-25.5181	12.9367	0.58319	1.0:0.0:0.0:0.0	.	270;270;270;270	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	270;270;270;270;270;259;138	ENSP00000352610:F270S;ENSP00000269305:F270S;ENSP00000398846:F270S;ENSP00000391127:F270S;ENSP00000391478:F270S;ENSP00000425104:F138S	ENSP00000269305:F270S	F	-	2	0	TP53	7517854	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.040000	0.76551	2.154000	0.67381	0.379000	0.24179	TTT		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	6	0	0	0	0.043863	0	19	6				
DNAH1	25981	broad.mit.edu	37	3	52416412	52416412	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:52416412G>A	ENST00000420323.2	+	50	8143	c.7882G>A	c.(7882-7884)Gtc>Atc	p.V2628I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2628	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTGAAGAAGGTCCTGCTCAA	0.582																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(7882-7884)Gtc>Atc		dynein, axonemal, heavy chain 1							170.0	180.0	177.0					3																	52416412		2135	4241	6376	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52416412G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7882G>A	3.37:g.52416412G>A	ENSP00000401514:p.Val2628Ile						p.V2628I	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	50	8143	+			2628			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.7882G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	8.814	0.935929	0.18206	.	.	ENSG00000114841	ENST00000420323	T	0.38077	1.16	4.49	0.209	0.15226	.	0.660315	0.13141	N	0.410621	T	0.12433	0.0302	N	0.02658	-0.545	0.24786	N	0.992783	B	0.06786	0.001	B	0.15052	0.012	T	0.27640	-1.0068	10	0.23891	T	0.37	.	4.9995	0.14257	0.4316:0.1522:0.4163:0.0	.	2628	C9JXH6	.	I	2628	ENSP00000401514:V2628I	ENSP00000401514:V2628I	V	+	1	0	DNAH1	52391452	1.000000	0.71417	0.980000	0.43619	0.758000	0.43043	1.117000	0.31234	0.136000	0.18733	0.462000	0.41574	GTC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		86	124	0	0	0	0.014410	0	86	124				
DNAH5	1767	broad.mit.edu	37	5	13751313	13751313	+	Silent	SNP	G	G	T			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:13751313G>T	ENST00000265104.4	-	65	11189	c.11085C>A	c.(11083-11085)acC>acA	p.T3695T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3695	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAATTTGGTGGTAATGTAGA	0.383									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11083-11085)acC>acA		dynein, axonemal, heavy chain 5							172.0	157.0	162.0					5																	13751313		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13751313G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11085C>A	5.37:g.13751313G>T							p.T3695T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			65	11189	-	Lung NSC(4;0.00476)		3695			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11085C>A	CCDS3882.1																																																																																				0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		5	88	1	0	0.00198382	0.029380	0.00252937	5	88				
VCL	7414	broad.mit.edu	37	10	75834513	75834513	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:75834513T>G	ENST00000211998.4	+	6	729	c.635T>G	c.(634-636)tTt>tGt	p.F212C	VCL_ENST00000372755.3_Missense_Mutation_p.F212C|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	212	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATGAAGATTTTTGTAACAACT	0.269																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(634-636)tTt>tGt		vinculin							64.0	70.0	68.0					10																	75834513		2202	4299	6501	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75834513T>G	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.635T>G	10.37:g.75834513T>G	ENSP00000211998:p.Phe212Cys					VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.F212C|VCL_ENST00000478896.2_Intron	p.F212C	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			6	729	+	Prostate(51;0.0112)		212			N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.635T>G	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238144	0.79800	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043	T;T	0.44482	0.92;0.92	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.91635	0.854;0.999	T	0.67987	-0.5528	10	0.48119	T	0.1	.	16.0553	0.80798	0.0:0.0:0.0:1.0	.	212;212	P18206-2;P18206	.;VINC_HUMAN	C	212;212;119;139	ENSP00000361841:F212C;ENSP00000211998:F212C	ENSP00000211998:F212C	F	+	2	0	VCL	75504519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.728000	0.62000	2.185000	0.69588	0.529000	0.55759	TTT		0.269	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		7	142	0	0	0	0.008291	0	7	142				
CACNA2D4	93589	broad.mit.edu	37	12	1992145	1992145	+	Missense_Mutation	SNP	G	G	A	rs373696894		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:1992145G>A	ENST00000382722.5	-	13	1735	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T343M|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T394M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T458M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T458M|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T394M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	458	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T458M(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCCGCCAGCGTTGAGATCTG	0.642																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			1	Substitution - Missense(1)	p.T458M(1)	NS(1)	endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1372-1374)aCg>aTg		calcium channel, voltage-dependent, alpha 2/delta subunit 4		G	MET/THR	1,4225		0,1,2112	64.0	67.0	66.0		1373	5.4	0.9	12		66	1,8457		0,1,4228	no	missense	CACNA2D4	NM_172364.4	81	0,2,6340	AA,AG,GG		0.0118,0.0237,0.0158	probably-damaging	458/1138	1992145	2,12682	2113	4229	6342	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1992145G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1373C>T	12.37:g.1992145G>A	ENSP00000372169:p.Thr458Met					CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T394M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T458M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T458M|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T394M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T343M	p.T458M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	13	1735	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	458			VWFA.		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1373C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679860	0.88542	2.37E-4	1.18E-4	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.14516	2.5	5.43	5.43	0.79202	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.46693	-0.9173	10	0.87932	D	0	.	19.2563	0.93947	0.0:0.0:1.0:0.0	.	458;458	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	M	394;458;458	ENSP00000372169:T458M	ENSP00000280663:T458M	T	-	2	0	CACNA2D4	1862406	1.000000	0.71417	0.944000	0.38274	0.775000	0.43874	9.476000	0.97823	2.545000	0.85829	0.462000	0.41574	ACG		0.642	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			11	20	0	0	0	0.013537	0	11	20				
ADCY2	108	broad.mit.edu	37	5	7520914	7520914	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:7520914G>A	ENST00000338316.4	+	3	561	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	158					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.A158T(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATGCGAGACGCCATCATTGC	0.547																																						ENST00000338316.4																			1	Substitution - Missense(1)	p.A158T(1)	endometrium(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(472-474)Gcc>Acc		adenylate cyclase 2 (brain)							205.0	135.0	159.0					5																	7520914		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7520914G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.472G>A	5.37:g.7520914G>A	ENSP00000342952:p.Ala158Thr						p.A158T	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			3	561	+			158					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.472G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	36	5.723829	0.96847	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.79352	-1.26	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.88437	0.6436	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88793	0.3279	10	0.54805	T	0.06	.	16.8923	0.86090	0.0:0.0:1.0:0.0	.	158	Q08462	ADCY2_HUMAN	T	158;9	ENSP00000342952:A158T	ENSP00000342952:A158T	A	+	1	0	ADCY2	7573914	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	8.978000	0.93450	2.652000	0.90054	0.650000	0.86243	GCC		0.547	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		50	58	0	0	0	0.014410	0	50	58				
KBTBD8	84541	broad.mit.edu	37	3	67054104	67054104	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:67054104A>G	ENST00000417314.2	+	3	762	c.713A>G	c.(712-714)aAa>aGa	p.K238R	KBTBD8_ENST00000295568.4_Missense_Mutation_p.K212R|KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_3'UTR			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	238	BACK.					cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATTTTTGCTAAATGCATACGT	0.388																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(634-636)aAa>aGa		kelch repeat and BTB (POZ) domain containing 8							103.0	118.0	113.0					3																	67054104		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67054104A>G	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.713A>G	3.37:g.67054104A>G	ENSP00000401878:p.Lys238Arg					KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.K238R|KBTBD8_ENST00000469661.1_3'UTR	p.K212R	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	766	+		Lung NSC(201;0.0765)	238			BACK.		B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.635A>G	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696568	0.48202	.	.	ENSG00000163376	ENST00000295568;ENST00000484414;ENST00000417314	T;T;T	0.68903	-0.36;-0.36;-0.36	4.91	4.91	0.64330	BTB/Kelch-associated (2);	0.047432	0.85682	D	0.000000	T	0.56963	0.2021	L	0.35593	1.075	0.44562	D	0.99752	B	0.17268	0.021	B	0.17722	0.019	T	0.54616	-0.8267	10	0.42905	T	0.14	.	14.8177	0.70048	1.0:0.0:0.0:0.0	.	238	Q8NFY9	KBTB8_HUMAN	R	212;161;238	ENSP00000295568:K212R;ENSP00000417341:K161R;ENSP00000401878:K238R	ENSP00000295568:K212R	K	+	2	0	KBTBD8	67136794	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.464000	0.80887	1.952000	0.56665	0.405000	0.27470	AAA		0.388	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		23	47	0	0	0	0.014323	0	23	47				
NBPF1	55672	broad.mit.edu	37	1	16918422	16918424	+	In_Frame_Del	DEL	TTG	TTG	-	rs9730077	byFrequency	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:16918422_16918424delTTG	ENST00000430580.2	-	7	980_982	c.93_95delCAA	c.(91-96)aacaaa>aaa	p.N31del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	31			N -> K (in dbSNP:rs9730077).			cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAACTGCTGTTTGTTCTCTGCCA	0.488																																						ENST00000430580.2																			0											c.(91-96)aaa>aa		neuroblastoma breakpoint family, member 1																																				SO:0001651	inframe_deletion	55672					cytoplasm		g.chr1:16918422_16918424delTTG	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.93_95delCAA	1.37:g.16918422_16918424delTTG	ENSP00000474456:p.Asn31del						p.NK31del	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	7	980_982	-			31		N -> K (in dbSNP:rs9730077).			Q8N4E8|Q9C0H0	In_Frame_Del	DEL	ENST00000430580.2	37	c.93_95delCAA																																																																																					0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		15	1124						15	1124	---	---	---	---
HNRNPR	10236	broad.mit.edu	37	1	23665036	23665038	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:23665036_23665038delCTT	ENST00000374612.1	-	3	344_346	c.221_223delAAG	c.(220-225)gaagga>gga	p.E74del	HNRNPR_ENST00000302271.6_In_Frame_Del_p.E74del|HNRNPR_ENST00000478691.1_5'UTR|HNRNPR_ENST00000374616.3_In_Frame_Del_p.E74del|HNRNPR_ENST00000606561.1_5'UTR|HNRNPR_ENST00000427764.2_In_Frame_Del_p.E74del|HNRNPR_ENST00000426846.2_5'UTR	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	74	Asp/Glu-rich (acidic).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACAGAGCTCCTTCTTCATTAAA	0.365																																						ENST00000374612.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(220-225)gga>g		heterogeneous nuclear ribonucleoprotein R																																				SO:0001651	inframe_deletion	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23665036_23665038delCTT	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.221_223delAAG	1.37:g.23665039_23665041delCTT	ENSP00000363741:p.Glu74del					HNRNPR_ENST00000606561.1_5'UTR|HNRNPR_ENST00000427764.2_In_Frame_Del_p.EG74del|HNRNPR_ENST00000374616.3_In_Frame_Del_p.EG74del|HNRNPR_ENST00000426846.2_5'UTR|HNRNPR_ENST00000302271.6_In_Frame_Del_p.EG74del|HNRNPR_ENST00000478691.1_5'UTR	p.EG74del	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	3	344_346	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	74			Asp/Glu-rich (acidic).		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	In_Frame_Del	DEL	ENST00000374612.1	37	c.221_223delAAG	CCDS232.1																																																																																				0.365	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		12	85						12	85	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145299852	145299854	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:145299852_145299854delGAG	ENST00000369338.1	+	2	278_280	c.88_90delGAG	c.(88-90)gagdel	p.E30del	NBPF10_ENST00000342960.5_In_Frame_Del_p.E301del|NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	301						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCAGCTGGCAGAGAAGAAACAGC	0.468																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(901-903)del		neuroblastoma breakpoint family, member 10																																				SO:0001651	inframe_deletion	100132406							g.chr1:145299852_145299854delGAG	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.88_90delGAG	1.37:g.145299852_145299854delGAG	ENSP00000358344:p.Glu30del					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_In_Frame_Del_p.E30del	p.E301del	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	6	936_938	+	all_hematologic(923;0.032)		301					Q5RHC0|Q9NWN6	In_Frame_Del	DEL	ENST00000369338.1	37	c.901_903delGAG																																																																																					0.468	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703		8	856						8	856	---	---	---	---
RPLP0P6	220717	broad.mit.edu	37	2	38710012	38710013	+	lincRNA	INS	-	-	A	rs71402229|rs56728844		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr2:38710012_38710013insA	ENST00000417039.1	-	0	696																											CTTACTTCTTtaaaaaataaat	0.252																																						ENST00000417039.1																			0																																																			0							g.chr2:38710012_38710013insA																													2.37:g.38710018_38710018dupA														0	696	-									RNA	INS	ENST00000417039.1	37																																																																																						0.252	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			4	8						4	8	---	---	---	---
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	lincRNA	DEL	AT	AT	-	rs139058677		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342																																						ENST00000473595.1																			0																																																			0							g.chr3:161146872_161146873delAT																													3.37:g.161146882_161146883delAT								NR_102265.1						0	1231	+									RNA	DEL	ENST00000473595.1	37																																																																																						0.342	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			2	4						2	4	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-	rs372401787		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(472-477)gct>g		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618431_89618433delCCT	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.473_475delAGG	4.37:g.89618440_89618442delCCT	ENSP00000320488:p.Glu158del					HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	p.EA158del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	953_955	-			158			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.473_475delAGG	CCDS3632.1																																																																																				0.626	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		7	202						7	202	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5428811	5428812	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr7:5428811_5428812insC	ENST00000430969.1	-	5	991_992	c.643_644insG	c.(643-645)gagfs	p.E215fs	TNRC18_ENST00000399537.4_Frame_Shift_Ins_p.E215fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	215							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGAGGCGGCTCCCCGCCGCGG	0.797																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(643-645)gccfs		trinucleotide repeat containing 18																																				SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5428811_5428812insC	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.644dupG	7.37:g.5428815_5428815dupC	ENSP00000395538:p.Glu215fs					TNRC18_ENST00000430969.1_Frame_Shift_Ins_p.A215fs	p.A215fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	991_992	-		Ovarian(82;0.142)	215					A8MX41|Q96JH1|Q96K91	Frame_Shift_Ins	INS	ENST00000430969.1	37	c.643_644insG	CCDS47534.1																																																																																				0.797	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
LOC100507377	100507377	broad.mit.edu	37	12	74668791	74668794	+	lincRNA	DEL	TATA	TATA	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:74668791_74668794delTATA	ENST00000515416.2	-	0	464				RP11-274M17.3_ENST00000552046.1_lincRNA																							CTTTAGAAAGTATATAGATTCACT	0.328																																						ENST00000515416.2																			0																																																			0							g.chr12:74668791_74668794delTATA																													12.37:g.74668791_74668794delTATA						RP11-274M17.3_ENST00000552046.1_RNA								0	464	-									RNA	DEL	ENST00000515416.2	37																																																																																						0.328	RP11-81H3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405900.1			11	21						11	21	---	---	---	---
HNRNPC	3183	broad.mit.edu	37	14	21679388	21679414	+	In_Frame_Del	DEL	GTCATCCTCGCCATTGGCGCTGTCTCT	GTCATCCTCGCCATTGGCGCTGTCTCT	-	rs199651987|rs201612579|rs200803750		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr14:21679388_21679414delGTCATCCTCGCCATTGGCGCTGTCTCT	ENST00000320084.7	-	8	1128_1154	c.889_915delAGAGACAGCGCCAATGGCGAGGATGAC	c.(889-915)agagacagcgccaatggcgaggatgacdel	p.RDSANGEDD297del	HNRNPC_ENST00000556897.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000554969.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000449098.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000557201.1_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000553300.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000430246.2_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000555914.1_In_Frame_Del_p.RDSANGEDD283del|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000555309.1_In_Frame_Del_p.RDSANGEDD296del|HNRNPC_ENST00000556628.1_In_Frame_Del_p.RDSANGEDD217del|HNRNPC_ENST00000420743.2_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000555883.1_In_Frame_Del_p.RDSANGEDD241del|HNRNPC_ENST00000554455.1_In_Frame_Del_p.RDSANGEDD297del	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	297	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GTGCTTAAGAGTCATCCTCGCCATTGGCGCTGTCTCTGTCATCCTCT	0.445																																					NSCLC(108;607 2244 12726 38757)	ENST00000430246.2																			0				breast(1)|liver(1)|lung(6)|skin(1)	9						c.(850-876)del		heterogeneous nuclear ribonucleoprotein C (C1/C2)																																				SO:0001651	inframe_deletion	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21679388_21679414delGTCATCCTCGCCATTGGCGCTGTCTCT		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.889_915delAGAGACAGCGCCAATGGCGAGGATGAC	14.37:g.21679388_21679414delGTCATCCTCGCCATTGGCGCTGTCTCT	ENSP00000319690:p.Arg297_Asp305del					HNRNPC_ENST00000420743.2_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000555883.1_In_Frame_Del_p.RDSANGEDD241del|HNRNPC_ENST00000320084.7_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000554969.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000557201.1_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000449098.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000553300.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000556897.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000556628.1_In_Frame_Del_p.RDSANGEDD217del|HNRNPC_ENST00000554455.1_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000555914.1_In_Frame_Del_p.RDSANGEDD283del|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000555309.1_In_Frame_Del_p.RDSANGEDD296del	p.RDSANGEDD284del			P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	8	3801_3827	-	all_cancers(95;0.00176)		297			Asp/Glu-rich (acidic).		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	In_Frame_Del	DEL	ENST00000320084.7	37	c.850_876delAGAGACAGCGCCAATGGCGAGGATGAC	CCDS41915.1																																																																																				0.445	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			63	187						63	187	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51791722	51791724	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr15:51791722_51791724delAAG	ENST00000251076.5	-	18	3984_3986	c.3697_3699delCTT	c.(3697-3699)cttdel	p.L1233del	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_In_Frame_Del_p.L1233del|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1233						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTATAGATCTAAGAAGAACCCAT	0.424																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(3697-3699)del		Dmx-like 2																																				SO:0001651	inframe_deletion	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791722_51791724delAAG	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3697_3699delCTT	15.37:g.51791725_51791727delAAG	ENSP00000251076:p.Leu1233del					DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_In_Frame_Del_p.L1233del	p.L1233del	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	3984_3986	-			1233					B2RTR3|B7ZMH3|F5GWF1|O94938	In_Frame_Del	DEL	ENST00000251076.5	37	c.3697_3699delCTT	CCDS10141.1																																																																																				0.424	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		8	115						8	115	---	---	---	---
GSPT1	2935	broad.mit.edu	37	16	12009530	12009531	+	Intron	INS	-	-	CCG	rs71408216|rs374901734		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr16:12009530_12009531insCCG	ENST00000420576.2	-	1	41				GSPT1_ENST00000439887.2_In_Frame_Ins_p.16_16G>GG|GSPT1_ENST00000434724.2_In_Frame_Ins_p.16_16G>GG|AC007216.1_ENST00000583357.1_RNA	NM_001130007.1	NP_001123479.1	P15170	ERF3A_HUMAN	G1 to S phase transition 1						G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772																																						ENST00000434724.2																			0				breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(46-48)gag>gCGGag		G1 to S phase transition 1																																				SO:0001627	intron_variant	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:12009530_12009531insCCG	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000420576.2:c.61+367->CGG	16.37:g.12009537_12009539dupCCG						AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000420576.2_Intron|GSPT1_ENST00000439887.2_In_Frame_Ins_p.15_16insA	p.15_16insA	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN			1	246_247	-			42					J3KQG6|Q96GF2	In_Frame_Ins	INS	ENST00000420576.2	37	c.47_48insCGG	CCDS45414.1																																																																																				0.772	GSPT1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421514.1	NM_002094		4	2						4	2	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7496341	7496341	+	Frame_Shift_Del	DEL	G	G	-	rs527575662		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:7496341delG	ENST00000250113.7	-	13	1823	c.1489delC	c.(1489-1491)cggfs	p.R497fs	SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	497						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAAGTGGGCCGGGGGGCAGGT	0.617																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1489-1491)ggfs		fragile X mental retardation, autosomal homolog 2							29.0	31.0	31.0					17																	7496341		1822	4064	5886	SO:0001589	frameshift_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496341delG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1489delC	17.37:g.7496341delG	ENSP00000250113:p.Arg497fs						p.R497fs	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	13	1823	-			497					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Del	DEL	ENST00000250113.7	37	c.1489delC	CCDS45604.1																																																																																				0.617	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			14	81						14	81	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	0							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			3	4						3	4	---	---	---	---
ENGASE	64772	broad.mit.edu	37	17	77079175	77079177	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:77079175_77079177delAGA	ENST00000579016.1	+	8	1112_1114	c.1112_1114delAGA	c.(1111-1116)gagaag>gag	p.K373del	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	373	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.					cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGTGTCTGGAGAAGAAGGATTT	0.562											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(1111-1116)gag>g		endo-beta-N-acetylglucosaminidase																																				SO:0001651	inframe_deletion	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77079175_77079177delAGA	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1112_1114delAGA	17.37:g.77079178_77079180delAGA	ENSP00000462333:p.Lys373del		OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1173	ENGASE_ENST00000584568.1_3'UTR	p.EK371del	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			8	1112_1114	+			371			BRCT.		Q659F0|Q8TB86|Q9H6U4	In_Frame_Del	DEL	ENST00000579016.1	37	c.1112_1114delAGA	CCDS42394.1																																																																																				0.562	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		11	145						11	145	---	---	---	---
LINC00669	647946	broad.mit.edu	37	18	37248431	37248454	+	lincRNA	DEL	AGGGAGGAAGGAAGGAAGGAAGGA	AGGGAGGAAGGAAGGAAGGAAGGA	-	rs374466776|rs200479778|rs140841760|rs150930477|rs200157609|rs371433352		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr18:37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA	ENST00000591629.1	-	0	282					NR_024391.1				long intergenic non-protein coding RNA 669																		ggagggagggagggaggaaggaaggaaggaaggaaggaaggaag	0.402																																						ENST00000591629.1																			0																																																			0							g.chr18:37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA	AK090603, BG220862, DB038664		18q12.2-q12.3	2012-10-12				ENSG00000267374		"""Long non-coding RNAs"""	44332	non-coding RNA	RNA, long non-coding							Standard	NR_024391		Approved		uc002lak.1				18.37:g.37248431_37248454delAGGGAGGAAGGAAGGAAGGAAGGA								NR_024391.1						0	282	-									RNA	DEL	ENST00000591629.1	37																																																																																						0.402	LINC00669-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441462.1	NR_024391		3	3						3	3	---	---	---	---
CDC34	997	broad.mit.edu	37	19	537058	537060	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr19:537058_537060delCTT	ENST00000215574.4	+	4	626_628	c.408_410delCTT	c.(406-411)accttc>acc	p.F137del		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	137					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCAACACCTTCTCGCCCGCA	0.635																																						ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(406-411)acc>ac		cell division cycle 34																																				SO:0001651	inframe_deletion	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:537058_537060delCTT	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.408_410delCTT	19.37:g.537058_537060delCTT	ENSP00000215574:p.Phe137del						p.TF136del	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	626_628	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	136					A8K689	In_Frame_Del	DEL	ENST00000215574.4	37	c.408_410delCTT	CCDS12030.1																																																																																				0.635	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		42	72						42	72	---	---	---	---
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-	rs375419913		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226.0	232.0	230.0					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			8	554						8	554	---	---	---	---
PPP6R2	9701	broad.mit.edu	37	22	50878211	50878212	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr22:50878211_50878212delGT	ENST00000216061.5	+	21	2580_2581	c.2210_2211delGT	c.(2209-2211)agtfs	p.S737fs	PPP6R2_ENST00000359139.3_Frame_Shift_Del_p.S711fs|PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.S710fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.S711fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	737						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GTGGGTTCCAGTGTGTGGGCAG	0.609																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(2131-2133)afs		protein phosphatase 6, regulatory subunit 2																																				SO:0001589	frameshift_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50878211_50878212delGT	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.2210_2211delGT	22.37:g.50878215_50878216delGT	ENSP00000216061:p.Ser737fs					PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.S710fs|PPP6R2_ENST00000216061.5_Frame_Shift_Del_p.S737fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.S711fs	p.S711fs	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			19	2526_2527	+			737					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Del	DEL	ENST00000216061.5	37	c.2132_2133delGT																																																																																					0.609	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		7	28						7	28	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76778848	76778849	+	Frame_Shift_Ins	INS	-	-	GTATC			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chrX:76778848_76778849insGTATC	ENST00000373344.5	-	31	6944_6945	c.6730_6731insGATAC	c.(6730-6732)catfs	p.H2244fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.H2206fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2244	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GTGTTCTTTATGTATCTGAAGG	0.386			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6730-6732)taafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778848_76778849insGTATC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6726_6730dupGATAC	X.37:g.76778849_76778853dupGTATC	ENSP00000362441:p.His2244fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.*2206fs	p.*2244fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	6944_6945	-			2244					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.6730_6731insGATAC	CCDS14434.1																																																																																				0.386	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		48	49						48	49	---	---	---	---
