JoGo: Joint Open Genome and Omics Platform

Haplotype Detail Info [CEL_chr9_133056981_133076861>a0005c0088t0001]

geneid	1056
ensemblid	ENSG00000170835.17
hgncid	1848
symbol	CEL
name	carboxyl ester lipase
refseq_nuc	NM_001807.6
refseq_prot	NP_001798.3
ensembl_nuc	ENST00000372080.8
ensembl_prot	ENSP00000361151.6
mane_status	MANE Select
chr	chr9
start	133061981
end	133071861
strand	+
ver	v1.2
region	chr9:133061981-133071861
region5000	chr9:133056981-133076861
regionname0	CEL_chr9_133061981_133071861
regionname5000	CEL_chr9_133056981_133076861

chr:pos	ref	alt	af	annotation	impact	samples	AHAPIDS	ACHAPIDS	ACTHAPIDS	ACTGHAPIDS	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	status
chr9:133071304	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	0.0673	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00438.hp2 HG00597.hp2 others(25): Show HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01361.hp2 HG01943.hp2 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02738.hp1 HG02738.hp2 HG03834.hp2 HG04199.hp2 NA18992.hp2 NA18995.hp2 NA19000.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0019 a0001c0054 a0001c0055 others(19): Show a0001c0019 a0001c0054 a0001c0055 a0001c0058 a0001c0059 a0001c0060 a0001c0062 a0001c0190 a0005c0015 a0005c0021 a0005c0022 a0005c0023 a0005c0082 a0005c0084 a0005c0090 a0005c0091 a0005c0093 a0005c0094 a0005c0095 a0005c0096 a0005c0097 a0005c0205	a0001c0019t0001 a0001c0054t0001 a0001c0055t0001 others(20): Show a0001c0019t0001 a0001c0054t0001 a0001c0055t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0062t0001 a0001c0190t0001 a0005c0015t0001 a0005c0021t0001 a0005c0022t0001 a0005c0023t0001 a0005c0023t0002 a0005c0082t0001 a0005c0084t0001 a0005c0090t0001 a0005c0091t0001 a0005c0093t0001 a0005c0094t0001 a0005c0095t0001 a0005c0096t0001 a0005c0097t0001 a0005c0205t0001	a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0054t0001g0056 others(23): Show a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0058t0001g0001 a0001c0059t0001g0003 a0001c0060t0001g0001 a0001c0062t0001g0007 a0001c0190t0001g0005 a0005c0015t0001g0001 a0005c0021t0001g0001 a0005c0021t0001g0009 a0005c0022t0001g0001 a0005c0022t0001g0003 a0005c0023t0001g0003 a0005c0023t0002g0001 a0005c0082t0001g0001 a0005c0084t0001g0001 a0005c0090t0001g0059 a0005c0091t0001g0001 a0005c0093t0001g0003 a0005c0094t0001g0001 a0005c0095t0001g0061 a0005c0096t0001g0001 a0005c0097t0001g0001 a0005c0205t0001g0005	28	416	-32	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.1810_1841delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val604fs	1832/2381	1810/2262	604/753	INFO_REALIGN_3_PRIME
chr9:133071304	CCCCCCCC others(58): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC ACGGGTGACTCCGGGG	C C	0.0144	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00738.hp1 HG02647.hp2 others(3): Show HG00438.hp1 HG00738.hp1 HG02647.hp2 HG02809.hp2 HG03942.hp1 NA18991.hp1	a0001 a0005 a0001 a0005	a0001c0056 a0001c0057 a0001c0061 others(3): Show a0001c0056 a0001c0057 a0001c0061 a0005c0083 a0005c0089 a0005c0092	a0001c0056t0001 a0001c0057t0001 a0001c0061t0001 others(3): Show a0001c0056t0001 a0001c0057t0001 a0001c0061t0001 a0005c0083t0001 a0005c0089t0001 a0005c0092t0001	a0001c0056t0001g0008 a0001c0057t0001g0008 a0001c0061t0001g0006 others(3): Show a0001c0056t0001g0008 a0001c0057t0001g0008 a0001c0061t0001g0006 a0005c0083t0001g0001 a0005c0089t0001g0009 a0005c0092t0001g0006	6	416	-65	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.1810_1874delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val604fs	1832/2381	1810/2262	604/753	INFO_REALIGN_3_PRIME
chr9:133071304	CCCCCCCC others(91): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC ACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	0.0168	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG02165.hp2 HG02602.hp1 others(4): Show HG00735.hp2 HG02165.hp2 HG02602.hp1 HG03209.hp1 NA18522.hp1 NA18998.hp1 NA19000.hp2	a0005 a0030 a0005 a0030	a0005c0081 a0005c0085 a0005c0086 others(4): Show a0005c0081 a0005c0085 a0005c0086 a0005c0087 a0005c0088 a0005c0206 a0030c0043	a0005c0081t0001 a0005c0085t0001 a0005c0086t0001 others(4): Show a0005c0081t0001 a0005c0085t0001 a0005c0086t0001 a0005c0087t0001 a0005c0088t0001 a0005c0206t0001 a0030c0043t0001	a0005c0081t0001g0010 a0005c0085t0001g0010 a0005c0086t0001g0007 others(4): Show a0005c0081t0001g0010 a0005c0085t0001g0010 a0005c0086t0001g0007 a0005c0087t0001g0004 a0005c0088t0001g0078 a0005c0206t0001g0024 a0030c0043t0001g0037	7	416	-98	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.1810_1907delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val604fs	1832/2381	1810/2262	604/753	INFO_REALIGN_3_PRIME
chr9:133071369	G G	GC GC	0.0577	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00597.hp1 HG00597.hp2 others(21): Show HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01361.hp2 HG01981.hp2 HG01993.hp2 HG02056.hp2 HG02074.hp1 HG02155.hp2 HG02486.hp1 HG02622.hp2 HG02738.hp1 HG03491.hp1 HG03831.hp2 HG03942.hp2 NA18906.hp1 NA19000.hp1 NA19063.hp2 NA19090.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0054	a0001c0054 a0001c0055 a0001c0058 others(20): Show a0001c0054 a0001c0055 a0001c0058 a0001c0059 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0196 a0005c0021 a0005c0082 a0007c0114 a0007c0117 a0007c0119 a0007c0122 a0007c0124 a0007c0125 a0007c0211 a0007c0212 a0007c0213 a0007c0214 a0007c0216 a0054c0179	a0001c0054t0001 a0001c0055t0001 a0001c0058t0001 others(20): Show a0001c0054t0001 a0001c0055t0001 a0001c0058t0001 a0001c0059t0001 a0001c0192t0001 a0001c0193t0001 a0001c0194t0001 a0001c0195t0001 a0001c0196t0001 a0005c0021t0001 a0005c0082t0001 a0007c0114t0001 a0007c0117t0001 a0007c0119t0001 a0007c0122t0001 a0007c0124t0001 a0007c0125t0001 a0007c0211t0001 a0007c0212t0001 a0007c0213t0001 a0007c0214t0001 a0007c0216t0001 a0054c0179t0001	a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0058t0001g0001 others(21): Show a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0058t0001g0001 a0001c0059t0001g0003 a0001c0192t0001g0002 a0001c0193t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 a0001c0196t0001g0002 a0005c0021t0001g0001 a0005c0021t0001g0009 a0005c0082t0001g0001 a0007c0114t0001g0008 a0007c0117t0001g0001 a0007c0119t0001g0032 a0007c0122t0001g0012 a0007c0124t0001g0050 a0007c0125t0001g0027 a0007c0211t0001g0076 a0007c0212t0001g0002 a0007c0213t0001g0005 a0007c0214t0001g0002 a0007c0216t0001g0005 a0054c0179t0001g0086	24	416	1	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.1875dupC	p.Val626fs	1898/2381	1876/2262	626/753	INFO_REALIGN_3_PRIME
chr9:133071402	G G	GC GC	0.0673	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(25): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00738.hp1 HG01175.hp2 HG01192.hp1 HG01934.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02155.hp2 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 NA18975.hp1 NA18975.hp2 NA18987.hp2 NA18991.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19090.hp1 NA19091.hp1	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0007 a0008	a0001c0019 a0001c0054 a0001c0056 others(24): Show a0001c0019 a0001c0054 a0001c0056 a0001c0057 a0001c0060 a0001c0063 a0001c0065 a0001c0070 a0001c0072 a0001c0190 a0001c0192 a0001c0193 a0005c0083 a0005c0084 a0006c0139 a0006c0142 a0006c0145 a0006c0220 a0006c0221 a0006c0222 a0006c0223 a0007c0112 a0007c0114 a0007c0121 a0007c0211 a0008c0099 a0008c0100	a0001c0019t0001 a0001c0054t0001 a0001c0056t0001 others(24): Show a0001c0019t0001 a0001c0054t0001 a0001c0056t0001 a0001c0057t0001 a0001c0060t0001 a0001c0063t0001 a0001c0065t0001 a0001c0070t0001 a0001c0072t0001 a0001c0190t0001 a0001c0192t0001 a0001c0193t0001 a0005c0083t0001 a0005c0084t0001 a0006c0139t0002 a0006c0142t0001 a0006c0145t0001 a0006c0220t0001 a0006c0221t0001 a0006c0222t0001 a0006c0223t0001 a0007c0112t0001 a0007c0114t0001 a0007c0121t0001 a0007c0211t0001 a0008c0099t0001 a0008c0100t0001	a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0054t0001g0056 others(25): Show a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0054t0001g0056 a0001c0056t0001g0008 a0001c0057t0001g0008 a0001c0060t0001g0001 a0001c0063t0001g0003 a0001c0065t0001g0001 a0001c0070t0001g0001 a0001c0072t0001g0012 a0001c0190t0001g0005 a0001c0192t0001g0002 a0001c0193t0001g0002 a0005c0083t0001g0001 a0005c0084t0001g0001 a0006c0139t0002g0067 a0006c0142t0001g0051 a0006c0145t0001g0020 a0006c0220t0001g0089 a0006c0221t0001g0002 a0006c0222t0001g0002 a0006c0223t0001g0002 a0007c0112t0001g0003 a0007c0114t0001g0008 a0007c0121t0001g0093 a0007c0211t0001g0076 a0008c0099t0001g0001 a0008c0100t0001g0023	28	416	1	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.1908dupC	p.Val637fs	1931/2381	1909/2262	637/753	INFO_REALIGN_3_PRIME
chr9:133071435	G G	GC GC	0.0553	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00597.hp2 HG01099.hp2 others(20): Show HG00544.hp1 HG00597.hp2 HG01099.hp2 HG01106.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02135.hp2 HG02145.hp2 HG02572.hp2 HG02602.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp2 NA18975.hp1 NA18977.hp1 NA19006.hp2 NA19009.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19072.hp2 NA19077.hp2	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0007 a0008 a0010 a0021 a0055	a0001c0019 a0001c0055 a0001c0063 others(19): Show a0001c0019 a0001c0055 a0001c0063 a0001c0064 a0001c0068 a0001c0070 a0005c0081 a0005c0082 a0005c0090 a0005c0091 a0006c0139 a0007c0113 a0007c0115 a0008c0099 a0008c0100 a0008c0101 a0008c0102 a0010c0155 a0010c0156 a0010c0236 a0021c0133 a0055c0181	a0001c0019t0001 a0001c0055t0001 a0001c0063t0001 others(19): Show a0001c0019t0001 a0001c0055t0001 a0001c0063t0001 a0001c0064t0001 a0001c0068t0001 a0001c0070t0001 a0005c0081t0001 a0005c0082t0001 a0005c0090t0001 a0005c0091t0001 a0006c0139t0002 a0007c0113t0001 a0007c0115t0002 a0008c0099t0001 a0008c0100t0001 a0008c0101t0001 a0008c0102t0001 a0010c0155t0001 a0010c0156t0001 a0010c0236t0001 a0021c0133t0001 a0055c0181t0001	a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0055t0001g0001 others(20): Show a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0055t0001g0001 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0068t0001g0008 a0001c0070t0001g0001 a0005c0081t0001g0010 a0005c0082t0001g0001 a0005c0090t0001g0059 a0005c0091t0001g0001 a0006c0139t0002g0067 a0007c0113t0001g0003 a0007c0115t0002g0001 a0008c0099t0001g0001 a0008c0100t0001g0023 a0008c0101t0001g0001 a0008c0102t0001g0066 a0010c0155t0001g0001 a0010c0156t0001g0001 a0010c0236t0001g0001 a0021c0133t0001g0010 a0055c0181t0001g0001	23	416	1	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.1941dupC	p.Val648fs	1964/2381	1942/2262	648/753	INFO_REALIGN_3_PRIME
chr9:133071462	T T	G G	0.1899	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00408.hp1 HG00558.hp1 others(76): Show HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02074.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02602.hp2 HG02630.hp1 HG03041.hp2 HG03130.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18960.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18998.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19062.hp1 NA19066.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0004 a0005 others(10): Show a0001 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0022 a0025 a0036 a0040 a0050	a0001c0073 a0001c0190 a0001c0192 others(43): Show a0001c0073 a0001c0190 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0196 a0001c0198 a0001c0199 a0001c0200 a0001c0201 a0001c0202 a0001c0203 a0004c0008 a0004c0017 a0004c0146 a0004c0229 a0004c0230 a0004c0231 a0004c0233 a0005c0205 a0006c0217 a0006c0220 a0006c0221 a0006c0222 a0006c0223 a0007c0209 a0007c0210 a0007c0211 a0007c0212 a0007c0213 a0007c0214 a0007c0216 a0010c0224 a0010c0225 a0010c0226 a0010c0227 a0010c0228 a0011c0004 a0012c0005 a0012c0234 a0022c0186 a0025c0037 a0036c0207 a0040c0157 a0050c0208	a0001c0073t0001 a0001c0190t0001 a0001c0192t0001 others(43): Show a0001c0073t0001 a0001c0190t0001 a0001c0192t0001 a0001c0193t0001 a0001c0194t0001 a0001c0195t0001 a0001c0196t0001 a0001c0198t0001 a0001c0199t0001 a0001c0200t0001 a0001c0201t0001 a0001c0202t0001 a0001c0203t0001 a0004c0008t0001 a0004c0017t0001 a0004c0146t0001 a0004c0229t0001 a0004c0230t0001 a0004c0231t0001 a0004c0233t0001 a0005c0205t0001 a0006c0217t0001 a0006c0220t0001 a0006c0221t0001 a0006c0222t0001 a0006c0223t0001 a0007c0209t0001 a0007c0210t0001 a0007c0211t0001 a0007c0212t0001 a0007c0213t0001 a0007c0214t0001 a0007c0216t0001 a0010c0224t0001 a0010c0225t0001 a0010c0226t0001 a0010c0227t0001 a0010c0228t0001 a0011c0004t0001 a0012c0005t0001 a0012c0234t0001 a0022c0186t0001 a0025c0037t0001 a0036c0207t0001 a0040c0157t0001 a0050c0208t0001	a0001c0073t0001g0001 a0001c0190t0001g0005 a0001c0192t0001g0002 others(54): Show a0001c0073t0001g0001 a0001c0190t0001g0005 a0001c0192t0001g0002 a0001c0193t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 a0001c0196t0001g0002 a0001c0198t0001g0083 a0001c0199t0001g0021 a0001c0200t0001g0002 a0001c0201t0001g0002 a0001c0202t0001g0005 a0001c0203t0001g0011 a0004c0008t0001g0002 a0004c0008t0001g0005 a0004c0008t0001g0018 a0004c0008t0001g0079 a0004c0017t0001g0002 a0004c0017t0001g0005 a0004c0017t0001g0011 a0004c0146t0001g0045 a0004c0229t0001g0011 a0004c0230t0001g0021 a0004c0231t0001g0002 a0004c0233t0001g0002 a0005c0205t0001g0005 a0006c0217t0001g0002 a0006c0220t0001g0089 a0006c0221t0001g0002 a0006c0222t0001g0002 a0006c0223t0001g0002 a0007c0209t0001g0026 a0007c0210t0001g0002 a0007c0211t0001g0076 a0007c0212t0001g0002 a0007c0213t0001g0005 a0007c0214t0001g0002 a0007c0216t0001g0005 a0010c0224t0001g0085 a0010c0225t0001g0002 a0010c0226t0001g0053 a0010c0227t0001g0021 a0010c0228t0001g0002 a0011c0004t0001g0002 a0011c0004t0001g0018 a0011c0004t0001g0048 a0012c0005t0001g0002 a0012c0005t0001g0005 a0012c0005t0001g0011 a0012c0005t0001g0018 a0012c0234t0001g0002 a0022c0186t0001g0005 a0025c0037t0001g0002 a0025c0037t0001g0011 a0036c0207t0001g0062 a0040c0157t0001g0001 a0050c0208t0001g0002	79	416	0	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.1960T>G	p.Ser654Ala	1982/2381	1960/2262	654/753
chr9:133071467	G G	GC GC	0.0914	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00558.hp1 HG00621.hp1 others(35): Show HG00408.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02074.hp1 HG02155.hp2 HG02293.hp2 HG02630.hp1 HG03654.hp2 HG03688.hp2 NA18522.hp2 NA18954.hp2 NA18960.hp2 NA18967.hp1 NA18984.hp2 NA18987.hp2 NA19006.hp1 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19090.hp1 NA20752.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0010	a0001c0073 a0001c0190 a0001c0192 others(26): Show a0001c0073 a0001c0190 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0198 a0001c0200 a0001c0201 a0004c0008 a0004c0017 a0004c0146 a0004c0229 a0004c0230 a0004c0231 a0005c0205 a0006c0217 a0006c0220 a0006c0221 a0006c0222 a0006c0223 a0007c0209 a0007c0210 a0007c0211 a0007c0212 a0007c0214 a0010c0224 a0010c0225 a0010c0226	a0001c0073t0001 a0001c0190t0001 a0001c0192t0001 others(26): Show a0001c0073t0001 a0001c0190t0001 a0001c0192t0001 a0001c0193t0001 a0001c0194t0001 a0001c0195t0001 a0001c0198t0001 a0001c0200t0001 a0001c0201t0001 a0004c0008t0001 a0004c0017t0001 a0004c0146t0001 a0004c0229t0001 a0004c0230t0001 a0004c0231t0001 a0005c0205t0001 a0006c0217t0001 a0006c0220t0001 a0006c0221t0001 a0006c0222t0001 a0006c0223t0001 a0007c0209t0001 a0007c0210t0001 a0007c0211t0001 a0007c0212t0001 a0007c0214t0001 a0010c0224t0001 a0010c0225t0001 a0010c0226t0001	a0001c0073t0001g0001 a0001c0190t0001g0005 a0001c0192t0001g0002 others(31): Show a0001c0073t0001g0001 a0001c0190t0001g0005 a0001c0192t0001g0002 a0001c0193t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 a0001c0198t0001g0083 a0001c0200t0001g0002 a0001c0201t0001g0002 a0004c0008t0001g0002 a0004c0008t0001g0005 a0004c0008t0001g0018 a0004c0008t0001g0079 a0004c0017t0001g0002 a0004c0017t0001g0005 a0004c0017t0001g0011 a0004c0146t0001g0045 a0004c0229t0001g0011 a0004c0230t0001g0021 a0004c0231t0001g0002 a0005c0205t0001g0005 a0006c0217t0001g0002 a0006c0220t0001g0089 a0006c0221t0001g0002 a0006c0222t0001g0002 a0006c0223t0001g0002 a0007c0209t0001g0026 a0007c0210t0001g0002 a0007c0211t0001g0076 a0007c0212t0001g0002 a0007c0214t0001g0002 a0010c0224t0001g0085 a0010c0225t0001g0002 a0010c0226t0001g0053	38	416	1	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.1965_1966insC	p.Ala656fs	1988/2381	1966/2262	656/753
chr9:133071468	G G	C C	0.1899	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00408.hp1 HG00558.hp1 others(76): Show HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02074.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02602.hp2 HG02630.hp1 HG02897.hp1 HG03130.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG04115.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18960.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18998.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19062.hp1 NA19066.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0004 a0005 others(11): Show a0001 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0022 a0025 a0046 a0047 a0051 a0052	a0001c0073 a0001c0190 a0001c0192 others(43): Show a0001c0073 a0001c0190 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0196 a0001c0198 a0001c0199 a0001c0200 a0001c0201 a0001c0202 a0001c0203 a0004c0008 a0004c0017 a0004c0146 a0004c0229 a0004c0230 a0004c0231 a0005c0205 a0006c0217 a0006c0220 a0006c0221 a0006c0222 a0006c0223 a0007c0209 a0007c0210 a0007c0211 a0007c0212 a0007c0213 a0007c0214 a0007c0216 a0010c0224 a0010c0225 a0010c0226 a0010c0227 a0010c0228 a0011c0004 a0012c0005 a0012c0234 a0022c0186 a0025c0037 a0046c0167 a0047c0168 a0051c0078 a0052c0079	a0001c0073t0001 a0001c0190t0001 a0001c0192t0001 others(43): Show a0001c0073t0001 a0001c0190t0001 a0001c0192t0001 a0001c0193t0001 a0001c0194t0001 a0001c0195t0001 a0001c0196t0001 a0001c0198t0001 a0001c0199t0001 a0001c0200t0001 a0001c0201t0001 a0001c0202t0001 a0001c0203t0001 a0004c0008t0001 a0004c0017t0001 a0004c0146t0001 a0004c0229t0001 a0004c0230t0001 a0004c0231t0001 a0005c0205t0001 a0006c0217t0001 a0006c0220t0001 a0006c0221t0001 a0006c0222t0001 a0006c0223t0001 a0007c0209t0001 a0007c0210t0001 a0007c0211t0001 a0007c0212t0001 a0007c0213t0001 a0007c0214t0001 a0007c0216t0001 a0010c0224t0001 a0010c0225t0001 a0010c0226t0001 a0010c0227t0001 a0010c0228t0001 a0011c0004t0001 a0012c0005t0001 a0012c0234t0001 a0022c0186t0001 a0025c0037t0001 a0046c0167t0001 a0047c0168t0001 a0051c0078t0001 a0052c0079t0001	a0001c0073t0001g0001 a0001c0190t0001g0005 a0001c0192t0001g0002 others(54): Show a0001c0073t0001g0001 a0001c0190t0001g0005 a0001c0192t0001g0002 a0001c0193t0001g0002 a0001c0194t0001g0002 a0001c0195t0001g0084 a0001c0196t0001g0002 a0001c0198t0001g0083 a0001c0199t0001g0021 a0001c0200t0001g0002 a0001c0201t0001g0002 a0001c0202t0001g0005 a0001c0203t0001g0011 a0004c0008t0001g0002 a0004c0008t0001g0005 a0004c0008t0001g0018 a0004c0008t0001g0079 a0004c0017t0001g0002 a0004c0017t0001g0005 a0004c0017t0001g0011 a0004c0146t0001g0045 a0004c0229t0001g0011 a0004c0230t0001g0021 a0004c0231t0001g0002 a0005c0205t0001g0005 a0006c0217t0001g0002 a0006c0220t0001g0089 a0006c0221t0001g0002 a0006c0222t0001g0002 a0006c0223t0001g0002 a0007c0209t0001g0026 a0007c0210t0001g0002 a0007c0211t0001g0076 a0007c0212t0001g0002 a0007c0213t0001g0005 a0007c0214t0001g0002 a0007c0216t0001g0005 a0010c0224t0001g0085 a0010c0225t0001g0002 a0010c0226t0001g0053 a0010c0227t0001g0021 a0010c0228t0001g0002 a0011c0004t0001g0002 a0011c0004t0001g0018 a0011c0004t0001g0048 a0012c0005t0001g0002 a0012c0005t0001g0005 a0012c0005t0001g0011 a0012c0005t0001g0018 a0012c0234t0001g0002 a0022c0186t0001g0005 a0025c0037t0001g0002 a0025c0037t0001g0011 a0046c0167t0001g0020 a0047c0168t0001g0092 a0051c0078t0001g0041 a0052c0079t0001g0031	79	416	0	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.1966G>C	p.Ala656Pro	1988/2381	1966/2262	656/753
chr9:133071468	G G	GC GC	0.0553	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 HG01169.hp2 HG01175.hp1 others(20): Show HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02523.hp2 HG02602.hp1 HG02970.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18943.hp1 NA18995.hp2 NA19011.hp2 NA19065.hp1 NA19072.hp1 NA19077.hp2 NA19090.hp2	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0006 a0007 a0008 a0013 a0054 a0057	a0001c0055 a0001c0062 a0001c0063 others(19): Show a0001c0055 a0001c0062 a0001c0063 a0001c0069 a0001c0077 a0004c0148 a0005c0081 a0005c0089 a0005c0093 a0005c0094 a0005c0095 a0006c0137 a0006c0138 a0007c0112 a0007c0113 a0007c0124 a0008c0024 a0008c0098 a0008c0099 a0013c0152 a0054c0179 a0057c0050	a0001c0055t0001 a0001c0062t0001 a0001c0063t0001 others(19): Show a0001c0055t0001 a0001c0062t0001 a0001c0063t0001 a0001c0069t0001 a0001c0077t0001 a0004c0148t0001 a0005c0081t0001 a0005c0089t0001 a0005c0093t0001 a0005c0094t0001 a0005c0095t0001 a0006c0137t0001 a0006c0138t0001 a0007c0112t0001 a0007c0113t0001 a0007c0124t0001 a0008c0024t0001 a0008c0098t0001 a0008c0099t0001 a0013c0152t0001 a0054c0179t0001 a0057c0050t0001	a0001c0055t0001g0001 a0001c0062t0001g0007 a0001c0063t0001g0003 others(19): Show a0001c0055t0001g0001 a0001c0062t0001g0007 a0001c0063t0001g0003 a0001c0069t0001g0001 a0001c0077t0001g0001 a0004c0148t0001g0060 a0005c0081t0001g0010 a0005c0089t0001g0009 a0005c0093t0001g0003 a0005c0094t0001g0001 a0005c0095t0001g0061 a0006c0137t0001g0008 a0006c0138t0001g0003 a0007c0112t0001g0003 a0007c0113t0001g0003 a0007c0124t0001g0050 a0008c0024t0001g0001 a0008c0098t0001g0004 a0008c0099t0001g0001 a0013c0152t0001g0001 a0054c0179t0001g0086 a0057c0050t0001g0025	23	416	1	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.1974dupC	p.Val659fs	1997/2381	1975/2262	659/753	INFO_REALIGN_3_PRIME
chr9:133071501	G G	GC GC	0.1250	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00597.hp1 others(49): Show HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01433.hp1 HG01496.hp1 HG01975.hp2 HG01981.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04204.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18960.hp1 NA18964.hp1 NA18990.hp1 NA18998.hp1 NA19030.hp2 NA19084.hp2 NA19090.hp1 NA20752.hp2	a0001 a0004 a0005 others(10): Show a0001 a0004 a0005 a0006 a0007 a0008 a0010 a0014 a0018 a0022 a0030 a0031 a0054	a0001c0054 a0001c0060 a0001c0061 others(48): Show a0001c0054 a0001c0060 a0001c0061 a0001c0063 a0001c0067 a0001c0070 a0001c0072 a0001c0077 a0001c0190 a0001c0193 a0001c0196 a0001c0200 a0001c0202 a0004c0148 a0004c0229 a0004c0230 a0005c0082 a0005c0083 a0005c0085 a0005c0090 a0005c0092 a0005c0093 a0005c0096 a0006c0028 a0006c0137 a0006c0140 a0006c0141 a0006c0220 a0006c0221 a0007c0118 a0007c0122 a0007c0209 a0007c0210 a0007c0211 a0007c0212 a0008c0103 a0008c0105 a0008c0106 a0010c0183 a0010c0224 a0010c0225 a0010c0227 a0014c0219 a0018c0169 a0018c0170 a0018c0171 a0018c0241 a0022c0186 a0030c0043 a0031c0048 a0054c0179	a0001c0054t0001 a0001c0060t0001 a0001c0061t0001 others(48): Show a0001c0054t0001 a0001c0060t0001 a0001c0061t0001 a0001c0063t0001 a0001c0067t0001 a0001c0070t0001 a0001c0072t0001 a0001c0077t0001 a0001c0190t0001 a0001c0193t0001 a0001c0196t0001 a0001c0200t0001 a0001c0202t0001 a0004c0148t0001 a0004c0229t0001 a0004c0230t0001 a0005c0082t0001 a0005c0083t0001 a0005c0085t0001 a0005c0090t0001 a0005c0092t0001 a0005c0093t0001 a0005c0096t0001 a0006c0028t0001 a0006c0137t0001 a0006c0140t0001 a0006c0141t0001 a0006c0220t0001 a0006c0221t0001 a0007c0118t0001 a0007c0122t0001 a0007c0209t0001 a0007c0210t0001 a0007c0211t0001 a0007c0212t0001 a0008c0103t0001 a0008c0105t0001 a0008c0106t0001 a0010c0183t0001 a0010c0224t0001 a0010c0225t0001 a0010c0227t0001 a0014c0219t0001 a0018c0169t0001 a0018c0170t0001 a0018c0171t0001 a0018c0241t0001 a0022c0186t0001 a0030c0043t0001 a0031c0048t0001 a0054c0179t0001	a0001c0054t0001g0056 a0001c0060t0001g0001 a0001c0061t0001g0006 others(48): Show a0001c0054t0001g0056 a0001c0060t0001g0001 a0001c0061t0001g0006 a0001c0063t0001g0003 a0001c0067t0001g0003 a0001c0070t0001g0001 a0001c0072t0001g0012 a0001c0077t0001g0001 a0001c0190t0001g0005 a0001c0193t0001g0002 a0001c0196t0001g0002 a0001c0200t0001g0002 a0001c0202t0001g0005 a0004c0148t0001g0060 a0004c0229t0001g0011 a0004c0230t0001g0021 a0005c0082t0001g0001 a0005c0083t0001g0001 a0005c0085t0001g0010 a0005c0090t0001g0059 a0005c0092t0001g0006 a0005c0093t0001g0003 a0005c0096t0001g0001 a0006c0028t0001g0001 a0006c0137t0001g0008 a0006c0140t0001g0003 a0006c0141t0001g0001 a0006c0220t0001g0089 a0006c0221t0001g0002 a0007c0118t0001g0014 a0007c0122t0001g0012 a0007c0209t0001g0026 a0007c0210t0001g0002 a0007c0211t0001g0076 a0007c0212t0001g0002 a0008c0103t0001g0006 a0008c0105t0001g0001 a0008c0106t0001g0003 a0010c0183t0001g0030 a0010c0224t0001g0085 a0010c0225t0001g0002 a0010c0227t0001g0021 a0014c0219t0001g0002 a0018c0169t0001g0001 a0018c0170t0001g0012 a0018c0171t0001g0001 a0018c0241t0001g0065 a0022c0186t0001g0005 a0030c0043t0001g0037 a0031c0048t0001g0064 a0054c0179t0001g0086	52	416	1	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.2007dupC	p.Val670fs	2030/2381	2008/2262	670/753	INFO_REALIGN_3_PRIME
chr9:133071533	G G	GC GC	0.4375	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(26): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0014 a0018 a0021 a0023 a0025 a0030 a0031 a0032 a0035 a0039 a0046 a0047 a0051 a0054 a0055 a0056 a0060 a0061 a0065 a0067	a0001c0019 a0001c0020 a0001c0054 others(112): Show a0001c0019 a0001c0020 a0001c0054 a0001c0055 a0001c0056 a0001c0058 a0001c0059 a0001c0060 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0074 a0001c0075 a0001c0076 a0001c0190 a0001c0197 a0001c0204 a0002c0002 a0002c0007 a0002c0034 a0002c0161 a0004c0006 a0004c0030 a0004c0036 a0004c0148 a0004c0232 a0005c0015 a0005c0021 a0005c0022 a0005c0081 a0005c0082 a0005c0086 a0005c0087 a0005c0088 a0005c0089 a0005c0090 a0005c0091 a0005c0093 a0005c0094 a0005c0096 a0005c0097 a0006c0028 a0006c0126 a0006c0128 a0006c0138 a0006c0139 a0006c0140 a0006c0143 a0006c0144 a0006c0217 a0006c0218 a0007c0112 a0007c0113 a0007c0115 a0007c0116 a0007c0120 a0007c0121 a0007c0122 a0007c0124 a0007c0209 a0007c0210 a0008c0011 a0008c0024 a0008c0098 a0008c0099 a0008c0100 a0008c0101 a0008c0102 a0008c0103 a0008c0104 a0008c0105 a0008c0107 a0008c0108 a0008c0109 a0008c0182 a0010c0031 a0010c0155 a0010c0156 a0010c0183 a0010c0236 a0013c0013 a0013c0158 a0013c0159 a0014c0012 a0014c0027 a0014c0129 a0014c0219 a0018c0169 a0021c0134 a0021c0135 a0023c0172 a0023c0173 a0025c0037 a0030c0043 a0031c0048 a0032c0237 a0035c0111 a0039c0176 a0046c0167 a0047c0168 a0051c0078 a0054c0179 a0055c0181 a0056c0180 a0060c0184 a0061c0185 a0065c0047 a0067c0042	a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 others(112): Show a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0003 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0002 a0001c0190t0001 a0001c0197t0001 a0001c0204t0001 a0002c0002t0001 a0002c0007t0001 a0002c0034t0001 a0002c0161t0001 a0004c0006t0001 a0004c0030t0001 a0004c0036t0001 a0004c0148t0001 a0004c0232t0001 a0005c0015t0001 a0005c0021t0001 a0005c0022t0001 a0005c0081t0001 a0005c0082t0001 a0005c0086t0001 a0005c0087t0001 a0005c0088t0001 a0005c0089t0001 a0005c0090t0001 a0005c0091t0001 a0005c0093t0001 a0005c0094t0001 a0005c0096t0001 a0005c0097t0001 a0006c0028t0001 a0006c0126t0001 a0006c0128t0001 a0006c0138t0001 a0006c0139t0002 a0006c0140t0001 a0006c0143t0001 a0006c0144t0001 a0006c0217t0001 a0006c0218t0001 a0007c0112t0001 a0007c0113t0001 a0007c0115t0002 a0007c0116t0001 a0007c0120t0001 a0007c0121t0001 a0007c0122t0001 a0007c0124t0001 a0007c0209t0001 a0007c0210t0001 a0008c0011t0001 a0008c0024t0001 a0008c0098t0001 a0008c0099t0001 a0008c0100t0001 a0008c0101t0001 a0008c0102t0001 a0008c0103t0001 a0008c0104t0001 a0008c0105t0001 a0008c0107t0001 a0008c0108t0001 a0008c0109t0001 a0008c0182t0001 a0010c0031t0001 a0010c0155t0001 a0010c0156t0001 a0010c0183t0001 a0010c0236t0001 a0013c0013t0001 a0013c0158t0001 a0013c0159t0001 a0014c0012t0001 a0014c0027t0001 a0014c0129t0001 a0014c0219t0001 a0018c0169t0001 a0021c0134t0001 a0021c0135t0001 a0023c0172t0001 a0023c0173t0001 a0025c0037t0001 a0030c0043t0001 a0031c0048t0001 a0032c0237t0001 a0035c0111t0001 a0039c0176t0001 a0046c0167t0001 a0047c0168t0001 a0051c0078t0001 a0054c0179t0001 a0055c0181t0001 a0056c0180t0001 a0060c0184t0001 a0061c0185t0001 a0065c0047t0001 a0067c0042t0001	a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 others(140): Show a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 a0001c0020t0001g0043 a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0056t0001g0008 a0001c0058t0001g0001 a0001c0059t0001g0003 a0001c0060t0001g0001 a0001c0062t0001g0007 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0065t0001g0001 a0001c0066t0003g0001 a0001c0067t0001g0003 a0001c0068t0001g0008 a0001c0069t0001g0001 a0001c0070t0001g0001 a0001c0071t0001g0003 a0001c0074t0001g0001 a0001c0075t0001g0009 a0001c0076t0002g0071 a0001c0190t0001g0005 a0001c0197t0001g0002 a0001c0204t0001g0015 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0007t0001g0001 a0002c0007t0001g0003 a0002c0007t0001g0019 a0002c0007t0001g0029 a0002c0007t0001g0047 a0002c0034t0001g0001 a0002c0034t0001g0003 a0002c0161t0001g0007 a0004c0006t0001g0001 a0004c0006t0001g0003 a0004c0006t0001g0006 a0004c0006t0001g0009 a0004c0030t0001g0077 a0004c0030t0001g0094 a0004c0036t0001g0013 a0004c0148t0001g0060 a0004c0232t0001g0033 a0005c0015t0001g0001 a0005c0021t0001g0001 a0005c0021t0001g0009 a0005c0022t0001g0001 a0005c0022t0001g0003 a0005c0081t0001g0010 a0005c0082t0001g0001 a0005c0086t0001g0007 a0005c0087t0001g0004 a0005c0088t0001g0078 a0005c0089t0001g0009 a0005c0090t0001g0059 a0005c0091t0001g0001 a0005c0093t0001g0003 a0005c0094t0001g0001 a0005c0096t0001g0001 a0005c0097t0001g0001 a0006c0028t0001g0001 a0006c0126t0001g0003 a0006c0128t0001g0004 a0006c0138t0001g0003 a0006c0139t0002g0067 a0006c0140t0001g0003 a0006c0143t0001g0014 a0006c0144t0001g0072 a0006c0217t0001g0002 a0006c0218t0001g0015 a0007c0112t0001g0003 a0007c0113t0001g0003 a0007c0115t0002g0001 a0007c0116t0001g0006 a0007c0120t0001g0001 a0007c0121t0001g0093 a0007c0122t0001g0012 a0007c0124t0001g0050 a0007c0209t0001g0026 a0007c0210t0001g0002 a0008c0011t0001g0001 a0008c0011t0001g0003 a0008c0011t0001g0009 a0008c0024t0001g0001 a0008c0098t0001g0004 a0008c0099t0001g0001 a0008c0100t0001g0023 a0008c0101t0001g0001 a0008c0102t0001g0066 a0008c0103t0001g0006 a0008c0104t0001g0039 a0008c0105t0001g0001 a0008c0107t0001g0003 a0008c0108t0001g0001 a0008c0109t0001g0008 a0008c0182t0001g0030 a0010c0031t0001g0001 a0010c0155t0001g0001 a0010c0156t0001g0001 a0010c0183t0001g0030 a0010c0236t0001g0001 a0013c0013t0001g0001 a0013c0013t0001g0055 a0013c0013t0001g0068 a0013c0013t0001g0074 a0013c0158t0001g0003 a0013c0159t0001g0008 a0014c0012t0001g0004 a0014c0012t0001g0016 a0014c0027t0001g0004 a0014c0027t0001g0073 a0014c0129t0001g0004 a0014c0219t0001g0002 a0018c0169t0001g0001 a0021c0134t0001g0004 a0021c0135t0001g0004 a0023c0172t0001g0001 a0023c0173t0001g0009 a0025c0037t0001g0002 a0025c0037t0001g0011 a0030c0043t0001g0037 a0031c0048t0001g0064 a0032c0237t0001g0040 a0035c0111t0001g0042 a0039c0176t0001g0001 a0046c0167t0001g0020 a0047c0168t0001g0092 a0051c0078t0001g0041 a0054c0179t0001g0086 a0055c0181t0001g0001 a0056c0180t0001g0087 a0060c0184t0001g0003 a0061c0185t0001g0003 a0065c0047t0001g0036 a0067c0042t0001g0080	182	416	1	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.2040dupC	p.Val681fs	2063/2381	2041/2262	681/753	INFO_REALIGN_3_PRIME
chr9:133071534	CCCCCCCC others(26): Show CCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C C	0.0769	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp2 HG00558.hp1 HG00639.hp1 others(29): Show HG00323.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG01358.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02155.hp2 HG02257.hp2 HG02602.hp2 HG03710.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18948.hp2 NA18950.hp1 NA18960.hp2 NA18965.hp2 NA18967.hp1 NA18986.hp1 NA19011.hp2 NA19062.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA20752.hp2 NA20905.hp2	a0001 a0004 a0005 others(7): Show a0001 a0004 a0005 a0006 a0007 a0010 a0011 a0014 a0022 a0025	a0001c0193 a0001c0200 a0004c0017 others(13): Show a0001c0193 a0001c0200 a0004c0017 a0005c0205 a0006c0138 a0006c0217 a0006c0223 a0007c0209 a0007c0210 a0007c0216 a0010c0227 a0010c0228 a0011c0004 a0014c0219 a0022c0186 a0025c0037	a0001c0193t0001 a0001c0200t0001 a0004c0017t0001 others(13): Show a0001c0193t0001 a0001c0200t0001 a0004c0017t0001 a0005c0205t0001 a0006c0138t0001 a0006c0217t0001 a0006c0223t0001 a0007c0209t0001 a0007c0210t0001 a0007c0216t0001 a0010c0227t0001 a0010c0228t0001 a0011c0004t0001 a0014c0219t0001 a0022c0186t0001 a0025c0037t0001	a0001c0193t0001g0002 a0001c0200t0001g0002 a0004c0017t0001g0002 others(18): Show a0001c0193t0001g0002 a0001c0200t0001g0002 a0004c0017t0001g0002 a0004c0017t0001g0005 a0004c0017t0001g0011 a0005c0205t0001g0005 a0006c0138t0001g0003 a0006c0217t0001g0002 a0006c0223t0001g0002 a0007c0209t0001g0026 a0007c0210t0001g0002 a0007c0216t0001g0005 a0010c0227t0001g0021 a0010c0228t0001g0002 a0011c0004t0001g0002 a0011c0004t0001g0018 a0011c0004t0001g0048 a0014c0219t0001g0002 a0022c0186t0001g0005 a0025c0037t0001g0002 a0025c0037t0001g0011	32	416	-33	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.2064_2096delCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG	p.Ala689_Gly699del	2086/2381	2064/2262	688/753	INFO_REALIGN_3_PRIME
chr9:133071567	G G	GC GC	0.2043	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show HG00099.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02897.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18947.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18975.hp1 NA18977.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp2 NA20752.hp1	a0001 a0002 a0004 others(19): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0014 a0016 a0018 a0021 a0022 a0024 a0027 a0030 a0037 a0046 a0047 a0052 a0060	a0001c0054 a0001c0055 a0001c0056 others(60): Show a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0060 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0069 a0001c0070 a0001c0077 a0001c0197 a0001c0199 a0002c0007 a0004c0030 a0004c0149 a0005c0015 a0005c0082 a0005c0083 a0005c0085 a0005c0086 a0005c0087 a0005c0089 a0005c0091 a0005c0092 a0005c0093 a0005c0094 a0005c0096 a0006c0139 a0006c0140 a0007c0112 a0007c0115 a0007c0116 a0007c0120 a0007c0124 a0007c0215 a0008c0024 a0008c0098 a0008c0100 a0008c0107 a0008c0108 a0008c0182 a0010c0153 a0010c0155 a0010c0183 a0013c0013 a0013c0033 a0013c0158 a0014c0027 a0016c0009 a0018c0170 a0021c0134 a0022c0150 a0022c0187 a0024c0151 a0027c0035 a0030c0043 a0037c0130 a0046c0167 a0047c0168 a0052c0079 a0060c0184	a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 others(60): Show a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0060t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0069t0001 a0001c0070t0001 a0001c0077t0001 a0001c0197t0001 a0001c0199t0001 a0002c0007t0001 a0004c0030t0001 a0004c0149t0001 a0005c0015t0001 a0005c0082t0001 a0005c0083t0001 a0005c0085t0001 a0005c0086t0001 a0005c0087t0001 a0005c0089t0001 a0005c0091t0001 a0005c0092t0001 a0005c0093t0001 a0005c0094t0001 a0005c0096t0001 a0006c0139t0002 a0006c0140t0001 a0007c0112t0001 a0007c0115t0002 a0007c0116t0001 a0007c0120t0001 a0007c0124t0001 a0007c0215t0001 a0008c0024t0001 a0008c0098t0001 a0008c0100t0001 a0008c0107t0001 a0008c0108t0001 a0008c0182t0001 a0010c0153t0001 a0010c0155t0001 a0010c0183t0001 a0013c0013t0001 a0013c0033t0001 a0013c0158t0001 a0014c0027t0001 a0016c0009t0001 a0018c0170t0001 a0021c0134t0001 a0022c0150t0001 a0022c0187t0001 a0024c0151t0001 a0027c0035t0001 a0030c0043t0001 a0037c0130t0001 a0046c0167t0001 a0047c0168t0001 a0052c0079t0001 a0060c0184t0001	a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0056t0001g0008 others(73): Show a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0056t0001g0008 a0001c0057t0001g0008 a0001c0060t0001g0001 a0001c0062t0001g0007 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0065t0001g0001 a0001c0069t0001g0001 a0001c0070t0001g0001 a0001c0077t0001g0001 a0001c0197t0001g0002 a0001c0199t0001g0021 a0002c0007t0001g0001 a0002c0007t0001g0003 a0002c0007t0001g0019 a0002c0007t0001g0029 a0002c0007t0001g0047 a0004c0030t0001g0077 a0004c0030t0001g0094 a0004c0149t0001g0012 a0005c0015t0001g0001 a0005c0082t0001g0001 a0005c0083t0001g0001 a0005c0085t0001g0010 a0005c0086t0001g0007 a0005c0087t0001g0004 a0005c0089t0001g0009 a0005c0091t0001g0001 a0005c0092t0001g0006 a0005c0093t0001g0003 a0005c0094t0001g0001 a0005c0096t0001g0001 a0006c0139t0002g0067 a0006c0140t0001g0003 a0007c0112t0001g0003 a0007c0115t0002g0001 a0007c0116t0001g0006 a0007c0120t0001g0001 a0007c0124t0001g0050 a0007c0215t0001g0002 a0008c0024t0001g0001 a0008c0098t0001g0004 a0008c0100t0001g0023 a0008c0107t0001g0003 a0008c0108t0001g0001 a0008c0182t0001g0030 a0010c0153t0001g0003 a0010c0155t0001g0001 a0010c0183t0001g0030 a0013c0013t0001g0001 a0013c0013t0001g0055 a0013c0013t0001g0068 a0013c0013t0001g0074 a0013c0033t0001g0001 a0013c0033t0001g0046 a0013c0158t0001g0003 a0014c0027t0001g0004 a0014c0027t0001g0073 a0016c0009t0001g0001 a0016c0009t0001g0007 a0016c0009t0001g0029 a0016c0009t0001g0082 a0018c0170t0001g0012 a0021c0134t0001g0004 a0022c0150t0001g0009 a0022c0187t0001g0013 a0024c0151t0001g0001 a0027c0035t0001g0001 a0030c0043t0001g0037 a0037c0130t0001g0004 a0046c0167t0001g0020 a0047c0168t0001g0092 a0052c0079t0001g0031 a0060c0184t0001g0003	85	416	1	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.2073dupC	p.Val692fs	2096/2381	2074/2262	692/753	INFO_REALIGN_3_PRIME
chr9:133071600	G G	GC GC	0.1130	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(44): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG03130.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18941.hp1 NA18943.hp1 NA18959.hp2 NA18975.hp2 NA18977.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19090.hp1	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013 a0022 a0023 a0038 a0056	a0001c0019 a0001c0055 a0001c0058 others(42): Show a0001c0019 a0001c0055 a0001c0058 a0001c0062 a0001c0063 a0001c0066 a0001c0071 a0001c0074 a0001c0076 a0001c0077 a0001c0194 a0001c0204 a0002c0034 a0004c0148 a0004c0229 a0005c0081 a0005c0082 a0005c0086 a0005c0093 a0005c0097 a0006c0126 a0006c0137 a0006c0142 a0006c0143 a0006c0220 a0007c0112 a0007c0113 a0007c0115 a0007c0120 a0007c0121 a0007c0211 a0007c0212 a0008c0100 a0008c0101 a0008c0106 a0008c0107 a0010c0183 a0010c0224 a0010c0226 a0012c0234 a0013c0158 a0022c0150 a0023c0172 a0038c0131 a0056c0180	a0001c0019t0001 a0001c0055t0001 a0001c0058t0001 others(42): Show a0001c0019t0001 a0001c0055t0001 a0001c0058t0001 a0001c0062t0001 a0001c0063t0001 a0001c0066t0003 a0001c0071t0001 a0001c0074t0001 a0001c0076t0002 a0001c0077t0001 a0001c0194t0001 a0001c0204t0001 a0002c0034t0001 a0004c0148t0001 a0004c0229t0001 a0005c0081t0001 a0005c0082t0001 a0005c0086t0001 a0005c0093t0001 a0005c0097t0001 a0006c0126t0001 a0006c0137t0001 a0006c0142t0001 a0006c0143t0001 a0006c0220t0001 a0007c0112t0001 a0007c0113t0001 a0007c0115t0002 a0007c0120t0001 a0007c0121t0001 a0007c0211t0001 a0007c0212t0001 a0008c0100t0001 a0008c0101t0001 a0008c0106t0001 a0008c0107t0001 a0010c0183t0001 a0010c0224t0001 a0010c0226t0001 a0012c0234t0001 a0013c0158t0001 a0022c0150t0001 a0023c0172t0001 a0038c0131t0001 a0056c0180t0001	a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0055t0001g0001 others(44): Show a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0055t0001g0001 a0001c0058t0001g0001 a0001c0062t0001g0007 a0001c0063t0001g0003 a0001c0066t0003g0001 a0001c0071t0001g0003 a0001c0074t0001g0001 a0001c0076t0002g0071 a0001c0077t0001g0001 a0001c0194t0001g0002 a0001c0204t0001g0015 a0002c0034t0001g0001 a0002c0034t0001g0003 a0004c0148t0001g0060 a0004c0229t0001g0011 a0005c0081t0001g0010 a0005c0082t0001g0001 a0005c0086t0001g0007 a0005c0093t0001g0003 a0005c0097t0001g0001 a0006c0126t0001g0003 a0006c0137t0001g0008 a0006c0142t0001g0051 a0006c0143t0001g0014 a0006c0220t0001g0089 a0007c0112t0001g0003 a0007c0113t0001g0003 a0007c0115t0002g0001 a0007c0120t0001g0001 a0007c0121t0001g0093 a0007c0211t0001g0076 a0007c0212t0001g0002 a0008c0100t0001g0023 a0008c0101t0001g0001 a0008c0106t0001g0003 a0008c0107t0001g0003 a0010c0183t0001g0030 a0010c0224t0001g0085 a0010c0226t0001g0053 a0012c0234t0001g0002 a0013c0158t0001g0003 a0022c0150t0001g0009 a0023c0172t0001g0001 a0038c0131t0001g0010 a0056c0180t0001g0087	47	416	1	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	c.2106dupC	p.Val703fs	2129/2381	2107/2262	703/753	INFO_REALIGN_3_PRIME

chr:pos	ref	alt	af	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status

chr:pos	ref	alt	af	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	ahapid	alen	total	AFR	AMR	EAS	EUR	SAS	aseq	chr	start	end
CEL	0/0	a0005	608	28	5	7	12	0	4	subcellular location copy fasta	chr9	133056981	133076861

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	chapid	clen	total	AFR	AMR	EAS	EUR	SAS	cseq	chr	start	end
CEL	0/0	c0088	2165	1	0	0	1	0	0	copy fasta	chr9	133056981	133076861

genename	grch38/ chm13v2	thapid	tlen	total	AFR	AMR	EAS	EUR	SAS	tseq	chr	start	end
CEL	1/1	t0001	120	410	89	84	179	16	40	copy fasta	chr9	133056981	133076861

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	achapid	total	AFR	AMR	EAS	EUR	SAS	clen	cseq	chr	start	end
CEL	0/0	a0005c0088	1	0	0	1	0	0	2165	copy fasta	chr9	133056981	133076861

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	acthapid	total	AFR	AMR	EAS	EUR	SAS	tlen	tseq	chr	start	end
CEL	0/0	a0005c0088t0001	1	0	0	1	0	0	2284	copy fasta	chr9	133056981	133076861

pos	S. Strand	E# Exon Number	max	median	min	type	haplotypeid	max_hap_list	min_hap_list	symbol	chr	start	end
133062068	+	1	-0.1452	-0.1452	-0.1452	acceptor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133064404	+	2	0.9986	0.9986	0.9986	donor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133064554	+	2	-0.9930	-0.9930	-0.9930	acceptor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133064640	+	3	0.9989	0.9989	0.9989	donor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133064762	+	3	-0.9953	-0.9953	-0.9953	acceptor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133065040	+	4	0.9784	0.9784	0.9784	donor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133065237	+	4	-0.9957	-0.9957	-0.9957	acceptor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133066530	+	5	0.9964	0.9963	0.9964	donor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133066660	+	5	-0.8695	-0.8695	-0.8695	acceptor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133066838	+	6	0.9951	0.9951	0.9951	donor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133066945	+	6	-0.9956	-0.9956	-0.9956	acceptor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133067088	+	7	0.9797	0.9797	0.9797	donor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133067205	+	7	-0.9861	-0.9861	-0.9861	acceptor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133068672	+	8	0.9995	0.9995	0.9995	donor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133068858	+	8	-0.9954	-0.9954	-0.9954	acceptor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133069056	+	9	0.9931	0.9931	0.9931	donor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133069259	+	9	-0.9931	-0.9931	-0.9931	acceptor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133070461	+	10	0.9825	0.9825	0.9825	donor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133070658	+	10	-0.9904	-0.9904	-0.9904	acceptor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861
133070987	+	11	0.9877	0.9877	0.9877	donor	a0005c0088t0001	HG02165.hp2 HG02165.hp2	HG02165.hp2 HG02165.hp2	CEL	chr9	133056981	133076861

pos	annotation hgvs_c hgvs_p	clinvarid	clnsig	geneinfo	mc	clndisdb	strand strand	ahapid ahapid_count	chapid chapid count	thapid thapid_count	ghapid ghapid_count	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	impact	chr	ref	alt	external
133071533:splice 133071533:variant goto	c.2040dupC p.Val681fs c.2040dupC p.Val681fs	3779506	Uncertain_significance	CEL:1056 CEL:1056	SO:0001589 frameshift_variant SO:0001589 frameshift_variant	MONDO:MONDO:0012348 MedGen:C1853297 OMIM:609812 Orphanet:552 MONDO:MONDO:0012348 MedGen:C1853297 OMIM:609812 Orphanet:552	+	29	115	115	143	a0001 a0002 a0004 a0005 a0006 others(24): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0014 a0018 a0021 a0023 a0025 a0030 a0031 a0032 a0035 a0039 a0046 a0047 a0051 a0054 a0055 a0056 a0060 a0061 a0065 a0067	a0001c0019 a0001c0020 a0001c0054 a0001c0055 a0001c0056 others(110): Show a0001c0019 a0001c0020 a0001c0054 a0001c0055 a0001c0056 a0001c0058 a0001c0059 a0001c0060 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0074 a0001c0075 a0001c0076 a0001c0190 a0001c0197 a0001c0204 a0002c0002 a0002c0007 a0002c0034 a0002c0161 a0004c0006 a0004c0030 a0004c0036 a0004c0148 a0004c0232 a0005c0015 a0005c0021 a0005c0022 a0005c0081 a0005c0082 a0005c0086 a0005c0087 a0005c0088 a0005c0089 a0005c0090 a0005c0091 a0005c0093 a0005c0094 a0005c0096 a0005c0097 a0006c0028 a0006c0126 a0006c0128 a0006c0138 a0006c0139 a0006c0140 a0006c0143 a0006c0144 a0006c0217 a0006c0218 a0007c0112 a0007c0113 a0007c0115 a0007c0116 a0007c0120 a0007c0121 a0007c0122 a0007c0124 a0007c0209 a0007c0210 a0008c0011 a0008c0024 a0008c0098 a0008c0099 a0008c0100 a0008c0101 a0008c0102 a0008c0103 a0008c0104 a0008c0105 a0008c0107 a0008c0108 a0008c0109 a0008c0182 a0010c0031 a0010c0155 a0010c0156 a0010c0183 a0010c0236 a0013c0013 a0013c0158 a0013c0159 a0014c0012 a0014c0027 a0014c0129 a0014c0219 a0018c0169 a0021c0134 a0021c0135 a0023c0172 a0023c0173 a0025c0037 a0030c0043 a0031c0048 a0032c0237 a0035c0111 a0039c0176 a0046c0167 a0047c0168 a0051c0078 a0054c0179 a0055c0181 a0056c0180 a0060c0184 a0061c0185 a0065c0047 a0067c0042	a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 others(110): Show a0001c0019t0001 a0001c0020t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0003 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0002 a0001c0190t0001 a0001c0197t0001 a0001c0204t0001 a0002c0002t0001 a0002c0007t0001 a0002c0034t0001 a0002c0161t0001 a0004c0006t0001 a0004c0030t0001 a0004c0036t0001 a0004c0148t0001 a0004c0232t0001 a0005c0015t0001 a0005c0021t0001 a0005c0022t0001 a0005c0081t0001 a0005c0082t0001 a0005c0086t0001 a0005c0087t0001 a0005c0088t0001 a0005c0089t0001 a0005c0090t0001 a0005c0091t0001 a0005c0093t0001 a0005c0094t0001 a0005c0096t0001 a0005c0097t0001 a0006c0028t0001 a0006c0126t0001 a0006c0128t0001 a0006c0138t0001 a0006c0139t0002 a0006c0140t0001 a0006c0143t0001 a0006c0144t0001 a0006c0217t0001 a0006c0218t0001 a0007c0112t0001 a0007c0113t0001 a0007c0115t0002 a0007c0116t0001 a0007c0120t0001 a0007c0121t0001 a0007c0122t0001 a0007c0124t0001 a0007c0209t0001 a0007c0210t0001 a0008c0011t0001 a0008c0024t0001 a0008c0098t0001 a0008c0099t0001 a0008c0100t0001 a0008c0101t0001 a0008c0102t0001 a0008c0103t0001 a0008c0104t0001 a0008c0105t0001 a0008c0107t0001 a0008c0108t0001 a0008c0109t0001 a0008c0182t0001 a0010c0031t0001 a0010c0155t0001 a0010c0156t0001 a0010c0183t0001 a0010c0236t0001 a0013c0013t0001 a0013c0158t0001 a0013c0159t0001 a0014c0012t0001 a0014c0027t0001 a0014c0129t0001 a0014c0219t0001 a0018c0169t0001 a0021c0134t0001 a0021c0135t0001 a0023c0172t0001 a0023c0173t0001 a0025c0037t0001 a0030c0043t0001 a0031c0048t0001 a0032c0237t0001 a0035c0111t0001 a0039c0176t0001 a0046c0167t0001 a0047c0168t0001 a0051c0078t0001 a0054c0179t0001 a0055c0181t0001 a0056c0180t0001 a0060c0184t0001 a0061c0185t0001 a0065c0047t0001 a0067c0042t0001	a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 a0001c0020t0001g0043 a0001c0054t0001g0056 others(138): Show a0001c0019t0001g0001 a0001c0019t0001g0003 a0001c0020t0001g0001 a0001c0020t0001g0043 a0001c0054t0001g0056 a0001c0055t0001g0001 a0001c0056t0001g0008 a0001c0058t0001g0001 a0001c0059t0001g0003 a0001c0060t0001g0001 a0001c0062t0001g0007 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0065t0001g0001 a0001c0066t0003g0001 a0001c0067t0001g0003 a0001c0068t0001g0008 a0001c0069t0001g0001 a0001c0070t0001g0001 a0001c0071t0001g0003 a0001c0074t0001g0001 a0001c0075t0001g0009 a0001c0076t0002g0071 a0001c0190t0001g0005 a0001c0197t0001g0002 a0001c0204t0001g0015 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0007t0001g0001 a0002c0007t0001g0003 a0002c0007t0001g0019 a0002c0007t0001g0029 a0002c0007t0001g0047 a0002c0034t0001g0001 a0002c0034t0001g0003 a0002c0161t0001g0007 a0004c0006t0001g0001 a0004c0006t0001g0003 a0004c0006t0001g0006 a0004c0006t0001g0009 a0004c0030t0001g0077 a0004c0030t0001g0094 a0004c0036t0001g0013 a0004c0148t0001g0060 a0004c0232t0001g0033 a0005c0015t0001g0001 a0005c0021t0001g0001 a0005c0021t0001g0009 a0005c0022t0001g0001 a0005c0022t0001g0003 a0005c0081t0001g0010 a0005c0082t0001g0001 a0005c0086t0001g0007 a0005c0087t0001g0004 a0005c0088t0001g0078 a0005c0089t0001g0009 a0005c0090t0001g0059 a0005c0091t0001g0001 a0005c0093t0001g0003 a0005c0094t0001g0001 a0005c0096t0001g0001 a0005c0097t0001g0001 a0006c0028t0001g0001 a0006c0126t0001g0003 a0006c0128t0001g0004 a0006c0138t0001g0003 a0006c0139t0002g0067 a0006c0140t0001g0003 a0006c0143t0001g0014 a0006c0144t0001g0072 a0006c0217t0001g0002 a0006c0218t0001g0015 a0007c0112t0001g0003 a0007c0113t0001g0003 a0007c0115t0002g0001 a0007c0116t0001g0006 a0007c0120t0001g0001 a0007c0121t0001g0093 a0007c0122t0001g0012 a0007c0124t0001g0050 a0007c0209t0001g0026 a0007c0210t0001g0002 a0008c0011t0001g0001 a0008c0011t0001g0003 a0008c0011t0001g0009 a0008c0024t0001g0001 a0008c0098t0001g0004 a0008c0099t0001g0001 a0008c0100t0001g0023 a0008c0101t0001g0001 a0008c0102t0001g0066 a0008c0103t0001g0006 a0008c0104t0001g0039 a0008c0105t0001g0001 a0008c0107t0001g0003 a0008c0108t0001g0001 a0008c0109t0001g0008 a0008c0182t0001g0030 a0010c0031t0001g0001 a0010c0155t0001g0001 a0010c0156t0001g0001 a0010c0183t0001g0030 a0010c0236t0001g0001 a0013c0013t0001g0001 a0013c0013t0001g0055 a0013c0013t0001g0068 a0013c0013t0001g0074 a0013c0158t0001g0003 a0013c0159t0001g0008 a0014c0012t0001g0004 a0014c0012t0001g0016 a0014c0027t0001g0004 a0014c0027t0001g0073 a0014c0129t0001g0004 a0014c0219t0001g0002 a0018c0169t0001g0001 a0021c0134t0001g0004 a0021c0135t0001g0004 a0023c0172t0001g0001 a0023c0173t0001g0009 a0025c0037t0001g0002 a0025c0037t0001g0011 a0030c0043t0001g0037 a0031c0048t0001g0064 a0032c0237t0001g0040 a0035c0111t0001g0042 a0039c0176t0001g0001 a0046c0167t0001g0020 a0047c0168t0001g0092 a0051c0078t0001g0041 a0054c0179t0001g0086 a0055c0181t0001g0001 a0056c0180t0001g0087 a0060c0184t0001g0003 a0061c0185t0001g0003 a0065c0047t0001g0036 a0067c0042t0001g0080	HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 others(177): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	HIGH	chr9	G G	GC GC	TogoVar

CHR:POS	annotation hgvs_c hgvs_p	disease trait -log10p odds or beta	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	study	initial sample size/ replication sample size	report genes	mapped gene	strongest snp risk allele	strand strand	impact	chr	ref	alt

pos	genename hgvs_c hgvs_p annotation	tissue expression gene -log10(pval) slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database) The -log10(nominal pvalue) in GTEx database Slope in GTEx database (positive value:alt allele has higher gene expression)	ahapid chapid thapid ghapid ahapid_count chapid_count thapid_count ghapid_count	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	af allele frequency in GTEx database	ms The number of samples with minor allele in GTEx database	ma The number of minor allele count in GTEx database	ver GTEx version	vid Variant ID in GTEx database	strand strand	impact	chr	ref	alt	external
133057735:splice 133057735:variant goto	CEL upstream_gene_variant c.-4268C>T CEL upstream_gene_variant c.-4268C>T	ADAMTSL2 Thyroid 4.664 0.230	23 51 51 58	a0001 a0002 a0003 a0004 a0005 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0016 a0022 a0023 a0042 a0054 a0056 a0060 a0061 a0067 a0069	a0001c0019 a0001c0059 a0001c0063 a0001c0064 a0001c0067 others(46): Show a0001c0019 a0001c0059 a0001c0063 a0001c0064 a0001c0067 a0001c0071 a0001c0075 a0001c0199 a0002c0002 a0002c0007 a0002c0034 a0003c0001 a0004c0006 a0004c0008 a0004c0030 a0004c0229 a0004c0230 a0005c0021 a0005c0022 a0005c0023 a0005c0088 a0005c0089 a0005c0093 a0006c0029 a0006c0126 a0006c0138 a0006c0140 a0007c0112 a0007c0113 a0007c0125 a0007c0211 a0008c0011 a0008c0106 a0008c0107 a0009c0003 a0010c0153 a0010c0227 a0011c0004 a0012c0005 a0013c0013 a0013c0158 a0016c0009 a0022c0150 a0023c0173 a0042c0177 a0054c0179 a0056c0180 a0060c0184 a0061c0185 a0067c0042 a0069c0242	a0001c0019t0001 a0001c0059t0001 a0001c0063t0001 a0001c0064t0001 a0001c0067t0001 others(46): Show a0001c0019t0001 a0001c0059t0001 a0001c0063t0001 a0001c0064t0001 a0001c0067t0001 a0001c0071t0001 a0001c0075t0001 a0001c0199t0001 a0002c0002t0001 a0002c0007t0001 a0002c0034t0001 a0003c0001t0001 a0004c0006t0001 a0004c0008t0001 a0004c0030t0001 a0004c0229t0001 a0004c0230t0001 a0005c0021t0001 a0005c0022t0001 a0005c0023t0001 a0005c0088t0001 a0005c0089t0001 a0005c0093t0001 a0006c0029t0001 a0006c0126t0001 a0006c0138t0001 a0006c0140t0001 a0007c0112t0001 a0007c0113t0001 a0007c0125t0001 a0007c0211t0001 a0008c0011t0001 a0008c0106t0001 a0008c0107t0001 a0009c0003t0001 a0010c0153t0001 a0010c0227t0001 a0011c0004t0001 a0012c0005t0001 a0013c0013t0001 a0013c0158t0001 a0016c0009t0001 a0022c0150t0001 a0023c0173t0001 a0042c0177t0001 a0054c0179t0001 a0056c0180t0001 a0060c0184t0001 a0061c0185t0001 a0067c0042t0001 a0069c0242t0001	a0001c0019t0001g0003 a0001c0059t0001g0003 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0067t0001g0003 others(53): Show a0001c0019t0001g0003 a0001c0059t0001g0003 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0067t0001g0003 a0001c0071t0001g0003 a0001c0075t0001g0009 a0001c0199t0001g0021 a0002c0002t0001g0003 a0002c0002t0001g0075 a0002c0007t0001g0003 a0002c0034t0001g0003 a0003c0001t0001g0003 a0003c0001t0001g0028 a0003c0001t0001g0081 a0004c0006t0001g0003 a0004c0006t0001g0009 a0004c0008t0001g0079 a0004c0030t0001g0077 a0004c0030t0001g0094 a0004c0229t0001g0011 a0004c0230t0001g0021 a0005c0021t0001g0009 a0005c0022t0001g0003 a0005c0023t0001g0003 a0005c0088t0001g0078 a0005c0089t0001g0009 a0005c0093t0001g0003 a0006c0029t0001g0003 a0006c0126t0001g0003 a0006c0138t0001g0003 a0006c0140t0001g0003 a0007c0112t0001g0003 a0007c0113t0001g0003 a0007c0125t0001g0027 a0007c0211t0001g0076 a0008c0011t0001g0003 a0008c0011t0001g0009 a0008c0106t0001g0003 a0008c0107t0001g0003 a0009c0003t0001g0003 a0009c0003t0001g0028 a0010c0153t0001g0003 a0010c0227t0001g0021 a0011c0004t0001g0002 a0012c0005t0001g0002 a0013c0013t0001g0074 a0013c0158t0001g0003 a0016c0009t0001g0082 a0022c0150t0001g0009 a0023c0173t0001g0009 a0042c0177t0001g0027 a0054c0179t0001g0086 a0056c0180t0001g0087 a0060c0184t0001g0003 a0061c0185t0001g0003 a0067c0042t0001g0080 a0069c0242t0001g0003	HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00741.hp1 HG01074.hp2 others(71): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02698.hp2 HG02735.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18950.hp1 NA18951.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18979.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	0.097	127	132	10	chr9_133057735_C_T_b38	+	MODIFIER	chr9	C C	T T	TogoVar
133063218:splice 133063218:variant goto	CEL intron_variant c.66+1150C>T CEL intron_variant c.66+1150C>T	ADAMTSL2 Thyroid 4.664 0.230	21 48 48 55	a0001 a0002 a0003 a0004 a0005 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0016 a0022 a0023 a0042 a0054 a0056 a0060 a0061 a0067 a0069	a0001c0019 a0001c0059 a0001c0063 a0001c0064 a0001c0067 others(43): Show a0001c0019 a0001c0059 a0001c0063 a0001c0064 a0001c0067 a0001c0071 a0001c0075 a0001c0199 a0002c0002 a0002c0007 a0002c0034 a0003c0001 a0004c0006 a0004c0008 a0004c0030 a0004c0230 a0005c0021 a0005c0022 a0005c0023 a0005c0088 a0005c0089 a0005c0093 a0006c0029 a0006c0126 a0006c0138 a0006c0140 a0007c0112 a0007c0113 a0007c0125 a0007c0211 a0008c0011 a0008c0106 a0008c0107 a0009c0003 a0010c0153 a0010c0227 a0013c0013 a0013c0158 a0016c0009 a0022c0150 a0023c0173 a0042c0177 a0054c0179 a0056c0180 a0060c0184 a0061c0185 a0067c0042 a0069c0242	a0001c0019t0001 a0001c0059t0001 a0001c0063t0001 a0001c0064t0001 a0001c0067t0001 others(43): Show a0001c0019t0001 a0001c0059t0001 a0001c0063t0001 a0001c0064t0001 a0001c0067t0001 a0001c0071t0001 a0001c0075t0001 a0001c0199t0001 a0002c0002t0001 a0002c0007t0001 a0002c0034t0001 a0003c0001t0001 a0004c0006t0001 a0004c0008t0001 a0004c0030t0001 a0004c0230t0001 a0005c0021t0001 a0005c0022t0001 a0005c0023t0001 a0005c0088t0001 a0005c0089t0001 a0005c0093t0001 a0006c0029t0001 a0006c0126t0001 a0006c0138t0001 a0006c0140t0001 a0007c0112t0001 a0007c0113t0001 a0007c0125t0001 a0007c0211t0001 a0008c0011t0001 a0008c0106t0001 a0008c0107t0001 a0009c0003t0001 a0010c0153t0001 a0010c0227t0001 a0013c0013t0001 a0013c0158t0001 a0016c0009t0001 a0022c0150t0001 a0023c0173t0001 a0042c0177t0001 a0054c0179t0001 a0056c0180t0001 a0060c0184t0001 a0061c0185t0001 a0067c0042t0001 a0069c0242t0001	a0001c0019t0001g0003 a0001c0059t0001g0003 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0067t0001g0003 others(50): Show a0001c0019t0001g0003 a0001c0059t0001g0003 a0001c0063t0001g0003 a0001c0064t0001g0003 a0001c0067t0001g0003 a0001c0071t0001g0003 a0001c0075t0001g0009 a0001c0199t0001g0021 a0002c0002t0001g0003 a0002c0002t0001g0075 a0002c0007t0001g0003 a0002c0034t0001g0003 a0003c0001t0001g0003 a0003c0001t0001g0028 a0003c0001t0001g0081 a0004c0006t0001g0003 a0004c0006t0001g0009 a0004c0008t0001g0079 a0004c0030t0001g0077 a0004c0030t0001g0094 a0004c0230t0001g0021 a0005c0021t0001g0009 a0005c0022t0001g0003 a0005c0023t0001g0003 a0005c0088t0001g0078 a0005c0089t0001g0009 a0005c0093t0001g0003 a0006c0029t0001g0003 a0006c0126t0001g0003 a0006c0138t0001g0003 a0006c0140t0001g0003 a0007c0112t0001g0003 a0007c0113t0001g0003 a0007c0125t0001g0027 a0007c0211t0001g0076 a0008c0011t0001g0003 a0008c0011t0001g0009 a0008c0106t0001g0003 a0008c0107t0001g0003 a0009c0003t0001g0003 a0009c0003t0001g0028 a0010c0153t0001g0003 a0010c0227t0001g0021 a0013c0013t0001g0074 a0013c0158t0001g0003 a0016c0009t0001g0082 a0022c0150t0001g0009 a0023c0173t0001g0009 a0042c0177t0001g0027 a0054c0179t0001g0086 a0056c0180t0001g0087 a0060c0184t0001g0003 a0061c0185t0001g0003 a0067c0042t0001g0080 a0069c0242t0001g0003	HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00741.hp1 HG01074.hp2 others(69): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02698.hp2 HG02735.hp2 HG03491.hp1 HG03492.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18950.hp1 NA18951.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18979.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19000.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	0.097	127	132	10	chr9_133063218_C_T_b38	+	MODIFIER	chr9	C C	T T	TogoVar

Haplotype Detail Info [CEL_chr9_133056981_133076861>a0005c0088t0001]

🧬 Gene Summary

🧬 JoGo Online Haplotype Explorer CEL_chr9_133056981_133076861

AVariants in Amino-acids (protein) level Haplotype (Total: 15)

CVariants in Coding level Haplotype (Total: 0)

TVariants in Transcript level Haplotype (Total: 0)

AAmino-acid (protein) Level Haplotype Info (Total: 1)

CCoding Level Haplotype Info (Total: 1)

TTranscript Level Haplotype Info (Total: 1)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 1)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 1)

📊 HaplotypeQTL Info

⚡ Splicing Related Variants (Total: 20)

🩺 Clinvar Related Variants (Total: 1)

GWASCatalog Related Variants (Total: 0)

GTEx Related Variants (Page 1 of 1 - Total: 2)