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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
SEMA3B	7869	broad.mit.edu	37	3	50311400	50311400	+	Missense_Mutation	SNP	C	G	G			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr3:50311400C>G	uc003cyu.3	+	11	1288	c.1046C>G	c.(1045-1047)gCc>gGc	p.A349G	SEMA3B_uc003cyt.3_Missense_Mutation_p.A348G|SEMA3B_uc003cyv.3_Missense_Mutation_p.A237G|SEMA3B_uc003cyw.3_Missense_Mutation_p.A73G|SEMA3B_uc010hli.3_Missense_Mutation_p.A242G|SEMA3B_uc003cyx.3_Missense_Mutation_p.A236G|SEMA3B_uc003cyy.3_Missense_Mutation_p.A7G|SEMA3B_uc011bdo.2_Missense_Mutation_p.A7G	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	350	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGCGCCGGGCCTTCTTGGGA	0.667											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	1.05E-02	0	0	0	43	19
TSPYL2	64061	broad.mit.edu	37	X	53114505	53114505	+	Splice_Site	SNP	T	A	A			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chrX:53114505T>A	uc004drw.3	+	5	1377	c.1238_splice	c.e5+2	p.R413_splice	TSPYL2_uc004drv.3_3'UTR|TSPYL2_uc004drx.1_5'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	413					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GAAGAAACGGTAATGGGAGTT	0.443													0	1.43E-02	0	0	0	43	22
HOXC11	3227	broad.mit.edu	37	12	54367562	54367562	+	Silent	SNP	G	T	T			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:54367562G>T	uc001sem.3	+	0	653	c.537G>T	c.(535-537)ggG>ggT	p.G179G		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	179					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						AGGCCAAGGGGGAGCCCGAGG	0.716			T	NUP98	AML								1.07E-10	1.07E-02	5.17E-11	0	1	13	10
RPAP1	26015	broad.mit.edu	37	15	41819130	41819130	+	Missense_Mutation	SNP	A	C	C			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr15:41819130A>C	uc001zod.3	-	13	2007	c.1883T>G	c.(1882-1884)cTg>cGg	p.L628R		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	628						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCTGAGGCCAGGACACGAAG	0.572													0	1.98E-03	0	0	0	258	7
NCAN	1463	broad.mit.edu	37	19	19359691	19359691	+	Splice_Site	SNP	C	T	T	rs148844959	byFrequency	TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr19:19359691C>T	uc002nlz.3	+	14	3919	c.3820_splice	c.e14+1	p.P1274_splice	NCAN_uc002nma.3_Splice_Site_p.N29_splice	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1274					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTGCACCAAACGTAAGTAGCT	0.463													0	1.65E-02	0	0	0	27	23
ABCB11	8647	broad.mit.edu	37	2	169850358	169850358	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr2:169850358G>A	uc002ueo.1	-	7	772	c.646C>T	c.(646-648)Caa>Taa	p.Q216*		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	216	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGGGCCATTTGGTCAGCTATG	0.383													0	3.08E-03	0	0	0	16	8
SF3B3	23450	broad.mit.edu	37	16	70599364	70599364	+	Silent	SNP	A	T	T			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr16:70599364A>T	uc002ezf.3	+	19	2974	c.2763A>T	c.(2761-2763)gcA>gcT	p.A921A		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	921					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GATCTGTGGCAGGGGGCTTCG	0.488													0	2.16E-02	0	0	0	139	6
PCDHB6	56130	broad.mit.edu	37	5	140531380	140531380	+	Silent	SNP	C	T	T			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr5:140531380C>T	uc003lir.3	+	0	1542	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	514	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTGCCCTCAGGTCGCTGG	0.687													0	1.35E-02	0	0	0	239	12
NPY1R	4886	broad.mit.edu	37	4	164247095	164247095	+	Silent	SNP	C	T	T			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr4:164247095C>T	uc003iqm.2	-	1	1077	c.612G>A	c.(610-612)tcG>tcA	p.S204S	NPY1R_uc021xtv.1_Silent_p.S204S|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	204					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATGAGAGTCCGATGGAAATT	0.383													0	6.12E-03	0	0	0	36	18
DICER1	23405	broad.mit.edu	37	14	95557629	95557629	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr14:95557629T>C	uc001ydw.2	-	25	5650	c.5438A>G	c.(5437-5439)gAg>gGg	p.E1813G	DICER1_uc010avh.1_Missense_Mutation_p.E711G|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.E1803G|DICER1_uc001ydx.2_Missense_Mutation_p.E1813G	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1813	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E1813G(2)|p.E1813A(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGCAAGCGACTCAAAAATATC	0.458			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				0	1.44E-02	0	0	0	223	117
ORC2	4999	broad.mit.edu	37	2	201822123	201822123	+	Splice_Site	SNP	C	G	G			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr2:201822123C>G	uc002uwr.3	-	4	509	c.238_splice	c.e4+1	p.E80_splice		NM_006190	NP_006181	Q13416	ORC2_HUMAN	Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.	80					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CCCTCAAATACCTTGAACATC	0.358													0	8.74E-03	0	0	0	93	36
TP53	7157	broad.mit.edu	37	17	7573998	7573999	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr17:7573998_7573999delCT	uc002gim.2	-	9	1222_1223	c.1028_1029delAG	c.(1027-1029)gagfs	p.E343fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.E211fs|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.E343fs|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	343	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> G (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(62)|p.R342fs*3(9)|p.0?(8)|p.E343*(6)|p.R342P(3)|p.L344fs*23(2)|p.R342_N345delRELN(2)|p.R342Q(2)|p.?(1)|p.E343fs*3(1)|p.I332fs*5(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)		CCTCATTCAGCTCTCGGAACAT	0.569		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)								15	26
AMDHD1	144193	broad.mit.edu	37	12	96359525	96359525	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:96359525delG	uc001tel.2	+	6	1106	c.1000delG	c.(1000-1002)gatfs	p.D334fs	AMDHD1_uc009zth.2_Frame_Shift_Del_p.D225fs	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	334					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCTGGGAAGTGATTTCAACCC	0.353																		77	34
NAB2	4665	broad.mit.edu	37	12	57488406	57488406	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EL-A3D5-01A-22D-A202-08	TCGA-EL-A3D5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4936b787-77b4-405e-b287-60bc8d820a44	5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf	g.chr12:57488406delG	uc001smz.3	+	6	1858	c.1480delG	c.(1480-1482)gggfs	p.G494fs		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	494					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTTCGAGGAAGGGCTGCTGGA	0.627																		4	2
