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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
OR11L1	391189	broad.mit.edu	37	1	248004453	248004453	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr1:248004453G>C	ENST00000355784.2	-	1	801	c.746C>G	c.(745-747)aCt>aGt	p.T249S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTAGTAGAGAGTGACAACAGC	0.498													9	28	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28752252	28752252	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr2:28752252G>T	ENST00000422425.2	+	7	438	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	PLB1_ENST00000327757.5_Missense_Mutation_p.V132F	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	132	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGAAAGAGAGTCATACCCCA	0.483													8	53	---	---	---	---
GHRL	51738	broad.mit.edu	37	3	10331494	10331494	+	Silent	SNP	C	C	T	rs113751742	byFrequency	TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:10331494C>T	ENST00000335542.8	-	4	1047	c.177G>A	c.(175-177)ccG>ccA	p.P59P	GHRL_ENST00000449238.2_Silent_p.P46P|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000422159.1_Silent_p.P59P|GHRL_ENST00000450603.1_Silent_p.P59P|GHRL_ENST00000449554.2_Silent_p.P58P|GHRL_ENST00000457360.1_Silent_p.P59P|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000446937.2_Intron|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000430179.1_Silent_p.P58P|GHRL_ENST00000287656.7_Silent_p.P58P|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000437422.2_Silent_p.P47P|GHRL_ENST00000429122.1_Silent_p.P59P			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	59					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						CTCCATCTTCCGGGCGGAGCC	0.587													5	130	---	---	---	---
SI	6476	broad.mit.edu	37	3	164714349	164714349	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr3:164714349T>C	ENST00000264382.3	-	40	4728	c.4666A>G	c.(4666-4668)Agg>Ggg	p.R1556G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1556	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTGTGATTCCTTGAGTATGGA	0.353										HNSCC(35;0.089)			54	146	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85656271	85656271	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr4:85656271C>A	ENST00000322366.6	-	43	7325	c.6918G>T	c.(6916-6918)gaG>gaT	p.E2306D	WDFY3_ENST00000295888.4_Missense_Mutation_p.E2306D			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2306						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTGCGAAATCTCCTAACAAT	0.299													18	38	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755853	146755853	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:146755853C>T	ENST00000361719.2	+	9	3976	c.3506C>T	c.(3505-3507)tCg>tTg	p.S1169L	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.S1169L|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1169	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTGTCCGAGTCGGTGCTCTGC	0.627													16	34	---	---	---	---
CLDN20	49861	broad.mit.edu	37	6	155597385	155597385	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr6:155597385G>A	ENST00000367165.3	+	2	912	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	178					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		GTTTATCTCTGGCATGATTTT	0.438													18	58	---	---	---	---
NPTX2	4885	broad.mit.edu	37	7	98257788	98257788	+	Silent	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr7:98257788C>T	ENST00000265634.3	+	5	1308	c.1143C>T	c.(1141-1143)cgC>cgT	p.R381R		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	381	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TATGGGACCGCGTCCTTCGCG	0.557													4	8	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115364399	115364399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr10:115364399C>T	ENST00000369358.4	-	35	4464	c.4220G>A	c.(4219-4221)tGg>tAg	p.W1407*	NRAP_ENST00000359988.3_Nonsense_Mutation_p.W1399*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.W1372*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.W1364*			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1399						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTTCTTGGCCCAGGCCATCTT	0.582													15	20	---	---	---	---
NKX6-2	84504	broad.mit.edu	37	10	134598510	134598510	+	Silent	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr10:134598510G>A	ENST00000368592.5	-	3	847	c.744C>T	c.(742-744)gaC>gaT	p.D248D		NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	248						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		TGATCTTCTCGTCGTCCGAGT	0.672													3	24	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78380123	78380123	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr11:78380123C>A	ENST00000278550.7	-	32	7729	c.7267G>T	c.(7267-7269)Gtg>Ttg	p.V2423L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CCGGCCAGCACATCATAATCT	0.498													8	19	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26596569	26596569	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr12:26596569A>C	ENST00000381340.3	-	46	6773	c.6357T>G	c.(6355-6357)aaT>aaG	p.N2119K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2119					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCAACAGTTTATTGTGGCGGG	0.423													13	24	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103700092	103700092	+	Silent	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr12:103700092C>T	ENST00000548048.1	-	8	586	c.90G>A	c.(88-90)gcG>gcA	p.A30A	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.A97A|C12orf42_ENST00000548883.1_Silent_p.A97A|C12orf42_ENST00000548789.1_5'UTR			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	97								p.A97A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTCTTTTACACGCCATTGAAT	0.378													3	17	---	---	---	---
FRMD5	84978	broad.mit.edu	37	15	44166604	44166604	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr15:44166604C>T	ENST00000417257.1	-	14	1368	c.1192G>A	c.(1192-1194)Ggg>Agg	p.G398R	FRMD5_ENST00000402883.1_Missense_Mutation_p.G398R|FRMD5_ENST00000484674.1_Missense_Mutation_p.G304R	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	398						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AAGGTGTCCCCATGGGAAGTG	0.562													10	38	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30732587	30732587	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr16:30732587C>T	ENST00000262518.4	+	21	3716	c.3331C>T	c.(3331-3333)Cct>Tct	p.P1111S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1111S|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1111	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCAACACCACCTGCCCCAGT	0.632													22	54	---	---	---	---
ALOX12B	242	broad.mit.edu	37	17	7983166	7983166	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:7983166A>T	ENST00000319144.4	-	7	1108	c.848T>A	c.(847-849)aTc>aAc	p.I283N	AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	283	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTTGTCTGGGATCCGCGTGCA	0.657										Multiple Myeloma(8;0.094)			5	11	---	---	---	---
SMCR8	140775	broad.mit.edu	37	17	18219934	18219934	+	Silent	SNP	G	G	A			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:18219934G>A	ENST00000406438.3	+	1	1311	c.831G>A	c.(829-831)caG>caA	p.Q277Q		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	277										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCCAGGATCAGGCCAGCCAGG	0.512													7	27	---	---	---	---
KIAA1468	57614	broad.mit.edu	37	18	59894681	59894681	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr18:59894681A>G	ENST00000256858.6	+	6	1266	c.1018A>G	c.(1018-1020)Ata>Gta	p.I340V	KIAA1468_ENST00000398130.2_Missense_Mutation_p.I340V			Q9P260	K1468_HUMAN	KIAA1468	340							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TACACCAATTATAAGCAACCT	0.403													10	77	---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34240454	34240454	+	Silent	SNP	A	A	G			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr20:34240454A>G	ENST00000374114.3	-	3	3054	c.2791T>C	c.(2791-2793)Tta>Cta	p.L931L	CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Silent_p.L931L|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.L931L|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	931	RRM 3.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGCTACCCTAATACAAGTTTT	0.403													11	77	---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50581567	50581567	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr22:50581567G>T	ENST00000262794.5	+	17	2358	c.2275G>T	c.(2275-2277)Ggt>Tgt	p.G759C	MOV10L1_ENST00000540615.1_Missense_Mutation_p.G739C|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G759C|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G759C	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	759					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GATTCTGAGTGGTGACTGCCG	0.443													6	122	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578435	7578436	+	Frame_Shift_Ins	INS	-	-	AGCA			TCGA-YL-A8SJ-01B-11D-A377-08	TCGA-YL-A8SJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38d44b16-89f5-4293-842e-0c7da7c23487	5aff2614-4c95-4b26-85c4-4f0a97991d56	g.chr17:7578435_7578436insAGCA	ENST00000420246.2	-	5	626_627	c.494_495insTGCT	c.(493-495)cagfs	p.Q165fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.Q165fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q165fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	165	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		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	p.0?(8)|p.Q165L(3)|p.Q165R(2)|p.S166fs*15(2)|p.Q165P(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q165fs*4(1)|p.Q165del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q165H(1)|p.Q165fs*16(1)|p.Q165_S166insXXX(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)		TGTGCTGTGACTGCTTGTAGAT	0.629		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)			16	46	---	---	---	---
