Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
PTPN23_chr3_47376021_47418435	47410831	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00597.hp1 HG00738.hp2 others(33): Show HG00140.hp2 HG00597.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01496.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02135.hp1 HG02135.hp2 HG02976.hp1 HG03516.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp2 NA18951.hp1 NA18977.hp1 NA18987.hp2 NA18988.hp2 NA19000.hp1 NA19005.hp1 NA19058.hp1 NA19058.hp2 NA19084.hp1 NA19090.hp1	a0005 a0006 a0005 a0006	a0005c0007 a0005c0010 a0005c0028 others(6): Show a0005c0007 a0005c0010 a0005c0028 a0005c0029 a0005c0041 a0006c0011 a0006c0015 a0006c0022 a0006c0038	a0005c0007t0001 a0005c0010t0001 a0005c0028t0001 others(6): Show a0005c0007t0001 a0005c0010t0001 a0005c0028t0001 a0005c0029t0001 a0005c0041t0001 a0006c0011t0001 a0006c0015t0001 a0006c0022t0001 a0006c0038t0001	a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 others(31): Show a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 a0005c0007t0001g0021 a0005c0007t0001g0061 a0005c0007t0001g0063 a0005c0007t0001g0069 a0005c0007t0001g0082 a0005c0007t0001g0099 a0005c0007t0001g0117 a0005c0007t0001g0119 a0005c0010t0001g0001 a0005c0010t0001g0002 a0005c0010t0001g0012 a0005c0010t0001g0041 a0005c0010t0001g0053 a0005c0010t0001g0079 a0005c0010t0001g0089 a0005c0010t0001g0116 a0005c0028t0001g0236 a0005c0029t0001g0134 a0005c0041t0001g0005 a0006c0011t0001g0027 a0006c0011t0001g0111 a0006c0011t0001g0132 a0006c0011t0001g0147 a0006c0011t0001g0165 a0006c0011t0001g0168 a0006c0011t0001g0203 a0006c0011t0001g0205 a0006c0015t0001g0138 a0006c0015t0001g0208 a0006c0022t0001g0186 a0006c0038t0001g0176	36	329	0.1094	1	c.304 others(5): Show c.3040dupC	p.Leu others(6): Show p.Leu1014fs	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding	20/25	3117/5237	3041/4911	1014/1636	INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPN23_chr3_47376021_47418435	47411089	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18987.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(6): Show a0002 a0004 a0005 a0006 a0010 a0013 a0015 a0016 a0020	a0002c0004 a0002c0008 a0002c0009 others(17): Show a0002c0004 a0002c0008 a0002c0009 a0002c0012 a0002c0016 a0002c0030 a0002c0031 a0004c0003 a0004c0025 a0005c0007 a0005c0028 a0005c0029 a0005c0041 a0006c0011 a0006c0038 a0010c0036 a0013c0018 a0015c0043 a0016c0021 a0020c0024	a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 others(18): Show a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 a0002c0009t0001 a0002c0012t0001 a0002c0016t0001 a0002c0030t0001 a0002c0031t0001 a0004c0003t0001 a0004c0025t0001 a0005c0007t0001 a0005c0028t0001 a0005c0029t0001 a0005c0041t0001 a0006c0011t0001 a0006c0038t0001 a0010c0036t0001 a0013c0018t0001 a0015c0043t0001 a0016c0021t0001 a0020c0024t0001	a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 others(118): Show a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0016 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0020 a0002c0004t0001g0022 a0002c0004t0001g0037 a0002c0004t0001g0040 a0002c0004t0001g0042 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0051 a0002c0004t0001g0058 a0002c0004t0001g0060 a0002c0004t0001g0070 a0002c0004t0001g0071 a0002c0004t0001g0074 a0002c0004t0001g0075 a0002c0004t0001g0081 a0002c0004t0001g0084 a0002c0004t0001g0085 a0002c0004t0001g0086 a0002c0004t0001g0088 a0002c0004t0001g0094 a0002c0004t0001g0100 a0002c0004t0001g0118 a0002c0004t0001g0120 a0002c0004t0001g0219 a0002c0004t0001g0240 a0002c0008t0001g0004 a0002c0008t0001g0007 a0002c0008t0001g0113 a0002c0008t0001g0222 a0002c0008t0001g0225 a0002c0008t0001g0228 a0002c0008t0001g0230 a0002c0008t0001g0231 a0002c0008t0003g0235 a0002c0009t0001g0006 a0002c0009t0001g0009 a0002c0009t0001g0125 a0002c0009t0001g0128 a0002c0009t0001g0130 a0002c0009t0001g0131 a0002c0009t0001g0139 a0002c0009t0001g0141 a0002c0012t0001g0005 a0002c0012t0001g0103 a0002c0012t0001g0104 a0002c0012t0001g0107 a0002c0012t0001g0121 a0002c0016t0001g0154 a0002c0016t0001g0161 a0002c0030t0001g0004 a0002c0031t0001g0133 a0004c0003t0001g0003 a0004c0003t0001g0015 a0004c0003t0001g0024 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0110 a0004c0003t0001g0115 a0004c0003t0001g0127 a0004c0003t0001g0142 a0004c0003t0001g0156 a0004c0003t0001g0158 a0004c0003t0001g0162 a0004c0003t0001g0163 a0004c0003t0001g0166 a0004c0003t0001g0167 a0004c0003t0001g0169 a0004c0003t0001g0172 a0004c0003t0001g0179 a0004c0003t0001g0183 a0004c0003t0001g0187 a0004c0003t0001g0189 a0004c0003t0001g0194 a0004c0003t0001g0195 a0004c0003t0001g0196 a0004c0003t0001g0200 a0004c0003t0001g0209 a0004c0003t0001g0212 a0004c0003t0001g0213 a0004c0003t0001g0214 a0004c0003t0001g0216 a0004c0003t0001g0238 a0004c0025t0001g0191 a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 a0005c0007t0001g0021 a0005c0007t0001g0061 a0005c0007t0001g0063 a0005c0007t0001g0069 a0005c0007t0001g0082 a0005c0007t0001g0099 a0005c0007t0001g0117 a0005c0007t0001g0119 a0005c0028t0001g0236 a0005c0029t0001g0134 a0005c0041t0001g0005 a0006c0011t0001g0027 a0006c0011t0001g0111 a0006c0011t0001g0132 a0006c0011t0001g0147 a0006c0011t0001g0165 a0006c0011t0001g0168 a0006c0011t0001g0203 a0006c0011t0001g0205 a0006c0038t0001g0176 a0010c0036t0001g0003 a0013c0018t0001g0030 a0015c0043t0001g0239 a0016c0021t0001g0174 a0020c0024t0001g0190	135	330	0.4091	1	c.329 others(5): Show c.3296dupC	p.Arg others(6): Show p.Arg1100fs	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding	20/25	3373/5237	3297/4911	1099/1636	INFO_REALIGN_3_PRIME	chr3	TogoVar
PTTG1IP2_chr7_90464639_90518397	90487326	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02132.hp2 HG02148.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03490.hp1 HG03492.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18952.hp1 NA18955.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19070.hp2 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0217 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0004c0005t0001g0240	72	382	0.1885	0	c.193 others(5): Show c.193-1G>A		PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding	2/6					chr7	TogoVar
PUSL1_chr1_1303597_1316677	1310876	CGGCTCTG others(10): Show CGGCTCTGGGTCACAGGT	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01361.hp2 HG02257.hp1 others(1): Show HG00738.hp1 HG01361.hp2 HG02257.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	4	350	0.0114	-17	c.700 others(27): Show c.700-15_701delGGCTCTGGGTCACAGGT	p.Val others(5): Show p.Val234fs	PUSL1	ENSG00000169972.13	transcript	ENST00000379031.10	protein_coding	7/8		700/912	234/303	INFO_REALIGN_3_PRIME	chr1	TogoVar
RAPH1_chr2_203428682_203540301	203441288	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00621.hp1 others(33): Show HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01517.hp1 HG01952.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02809.hp2 HG03098.hp1 HG03516.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 NA18965.hp2 NA18977.hp2 NA18987.hp1 NA18988.hp2 NA18994.hp1 NA19001.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19067.hp1 NA19078.hp1	a0002 a0006 a0002 a0006	a0002c0005 a0002c0006 a0002c0012 others(8): Show a0002c0005 a0002c0006 a0002c0012 a0002c0013 a0002c0016 a0002c0017 a0002c0018 a0002c0022 a0002c0023 a0002c0031 a0006c0025	a0002c0005t0002 a0002c0005t0003 a0002c0005t0011 others(28): Show a0002c0005t0002 a0002c0005t0003 a0002c0005t0011 a0002c0005t0012 a0002c0005t0013 a0002c0005t0022 a0002c0005t0029 a0002c0005t0080 a0002c0005t0087 a0002c0005t0107 a0002c0006t0001 a0002c0006t0004 a0002c0006t0027 a0002c0006t0030 a0002c0006t0048 a0002c0006t0074 a0002c0012t0039 a0002c0012t0091 a0002c0012t0099 a0002c0013t0002 a0002c0013t0009 a0002c0016t0001 a0002c0016t0020 a0002c0017t0015 a0002c0017t0018 a0002c0018t0021 a0002c0018t0083 a0002c0022t0054 a0002c0023t0003 a0002c0031t0105 a0006c0025t0030	a0002c0005t0002g0149 a0002c0005t0002g0174 a0002c0005t0003g0135 others(33): Show a0002c0005t0002g0149 a0002c0005t0002g0174 a0002c0005t0003g0135 a0002c0005t0011g0015 a0002c0005t0012g0206 a0002c0005t0013g0170 a0002c0005t0022g0117 a0002c0005t0029g0035 a0002c0005t0080g0127 a0002c0005t0087g0254 a0002c0005t0107g0289 a0002c0006t0001g0008 a0002c0006t0001g0054 a0002c0006t0001g0055 a0002c0006t0001g0073 a0002c0006t0004g0143 a0002c0006t0027g0019 a0002c0006t0027g0024 a0002c0006t0030g0048 a0002c0006t0048g0084 a0002c0006t0074g0164 a0002c0012t0039g0270 a0002c0012t0091g0262 a0002c0012t0099g0265 a0002c0013t0002g0216 a0002c0013t0009g0256 a0002c0016t0001g0010 a0002c0016t0020g0074 a0002c0017t0015g0097 a0002c0017t0018g0232 a0002c0018t0021g0161 a0002c0018t0083g0253 a0002c0022t0054g0166 a0002c0023t0003g0169 a0002c0031t0105g0266 a0006c0025t0030g0026	36	288	0.1250	1	c.190 others(5): Show c.1901dupC	p.Pro others(5): Show p.Pro635fs	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	14/14	2092/9699	1901/3753	634/1250		chr2	TogoVar
RHBG_chr1_156364211_156390219	156384556	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0002 a0003 a0005 others(7): Show a0002 a0003 a0005 a0007 a0008 a0011 a0012 a0013 a0014 a0016	a0002c0002 a0002c0008 a0002c0019 others(16): Show a0002c0002 a0002c0008 a0002c0019 a0002c0021 a0003c0004 a0003c0009 a0003c0012 a0003c0015 a0005c0006 a0005c0007 a0007c0011 a0007c0014 a0008c0010 a0008c0022 a0011c0023 a0012c0020 a0013c0016 a0014c0017 a0016c0026	a0002c0002t0001 a0002c0008t0001 a0002c0019t0001 others(16): Show a0002c0002t0001 a0002c0008t0001 a0002c0019t0001 a0002c0021t0001 a0003c0004t0001 a0003c0009t0001 a0003c0012t0001 a0003c0015t0001 a0005c0006t0001 a0005c0007t0001 a0007c0011t0001 a0007c0014t0001 a0008c0010t0001 a0008c0022t0001 a0011c0023t0001 a0012c0020t0001 a0013c0016t0001 a0014c0017t0001 a0016c0026t0001	a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 others(130): Show a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0144 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0213 a0002c0002t0001g0224 a0002c0008t0001g0009 a0002c0008t0001g0173 a0002c0008t0001g0174 a0002c0008t0001g0184 a0002c0008t0001g0188 a0002c0019t0001g0225 a0002c0021t0001g0003 a0003c0004t0001g0002 a0003c0004t0001g0010 a0003c0004t0001g0024 a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0102 a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0111 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0117 a0003c0004t0001g0118 a0003c0004t0001g0119 a0003c0004t0001g0121 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0197 a0003c0009t0001g0002 a0003c0009t0001g0010 a0003c0009t0001g0122 a0003c0012t0001g0034 a0003c0012t0001g0107 a0003c0012t0001g0110 a0003c0015t0001g0002 a0005c0006t0001g0028 a0005c0006t0001g0043 a0005c0006t0001g0066 a0005c0006t0001g0067 a0005c0006t0001g0070 a0005c0006t0001g0075 a0005c0006t0001g0076 a0005c0006t0001g0083 a0005c0006t0001g0086 a0005c0006t0001g0089 a0005c0006t0001g0169 a0005c0006t0001g0177 a0005c0006t0001g0198 a0005c0006t0001g0215 a0005c0006t0001g0216 a0005c0006t0001g0217 a0005c0006t0001g0218 a0005c0007t0001g0013 a0005c0007t0001g0029 a0005c0007t0001g0078 a0005c0007t0001g0080 a0005c0007t0001g0081 a0005c0007t0001g0163 a0005c0007t0001g0209 a0005c0007t0001g0210 a0005c0007t0001g0211 a0005c0007t0001g0214 a0005c0007t0001g0219 a0005c0007t0001g0223 a0005c0007t0001g0234 a0007c0011t0001g0053 a0007c0011t0001g0058 a0007c0011t0001g0061 a0007c0011t0001g0062 a0007c0011t0001g0090 a0007c0011t0001g0152 a0007c0014t0001g0028 a0007c0014t0001g0149 a0008c0010t0001g0020 a0008c0010t0001g0189 a0008c0010t0001g0212 a0008c0010t0001g0220 a0008c0022t0001g0181 a0011c0023t0001g0014 a0012c0020t0001g0221 a0013c0016t0001g0141 a0014c0017t0001g0033 a0016c0026t0001g0003	231	436	0.5298	1	c.127 others(5): Show c.1271dupC	p.Asp others(5): Show p.Asp425fs	RHBG	ENSG00000132677.13	transcript	ENST00000537040.6	protein_coding	9/10	1311/1790	1272/1377	424/458	INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF133_chr7_122692735_122704117	122698916	C C	T T	start_lost start_lost	HIGH	HG00280.hp1 HG00738.hp1 HG01069.hp1 others(3): Show HG00280.hp1 HG00738.hp1 HG01069.hp1 HG01106.hp2 HG01243.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	6	446	0.0135	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	RNF133	ENSG00000188050.3	transcript	ENST00000340112.3	protein_coding	1/1	202/1383	3/1131	1/376		chr7	TogoVar
SCAPER_chr15_76342904_76910340	76883817	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0003 a0002c0011 others(5): Show a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0002c0022 a0002c0023 a0002c0025 a0011c0024	a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 others(9): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0011 a0002c0011t0002 a0002c0015t0002 a0002c0022t0002 a0002c0023t0002 a0002c0025t0002 a0011c0024t0002	a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0003t0002g0186 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0191 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0294 a0002c0003t0005g0195 a0002c0003t0006g0196 a0002c0003t0007g0249 a0002c0003t0011g0312 a0002c0011t0002g0225 a0002c0011t0002g0274 a0002c0011t0002g0285 a0002c0015t0002g0220 a0002c0015t0002g0276 a0002c0022t0002g0290 a0002c0023t0002g0228 a0002c0025t0002g0262 a0011c0024t0002g0284	117	310	0.3774	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/32	102/5033	1/4203	1/1400		chr15	TogoVar
SDR42E1_chr16_81983855_82016470	82000205	G G	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00738.hp2 HG01099.hp1 others(11): Show HG00140.hp1 HG00738.hp2 HG01099.hp1 HG01256.hp2 HG01928.hp2 HG01975.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp2 HG03239.hp2 HG03491.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0005 a0004c0004t0018 others(6): Show a0004c0004t0001 a0004c0004t0005 a0004c0004t0018 a0004c0004t0036 a0004c0004t0049 a0004c0004t0063 a0004c0004t0066 a0004c0004t0075 a0004c0004t0077	a0004c0004t0001g0052 a0004c0004t0005g0050 a0004c0004t0018g0027 others(7): Show a0004c0004t0001g0052 a0004c0004t0005g0050 a0004c0004t0018g0027 a0004c0004t0036g0136 a0004c0004t0036g0145 a0004c0004t0049g0119 a0004c0004t0063g0134 a0004c0004t0066g0135 a0004c0004t0075g0138 a0004c0004t0077g0137	14	418	0.0335	0	c.88C others(2): Show c.88C>T	p.Gln others(3): Show p.Gln30*	SDR42E1	ENSG00000184860.10	transcript	ENST00000328945.7	protein_coding	3/3	198/11548	88/1182	30/393		chr16	TogoVar
SERPINB11_chr18_63697960_63728893	63712604	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0001c0005 a0001c0009 others(15): Show a0001c0002 a0001c0005 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0004c0004 a0004c0007 a0004c0010 a0004c0017 a0004c0023 a0013c0031	a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 others(18): Show a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 a0001c0009t0001 a0001c0019t0004 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0022t0007 a0001c0027t0002 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0032t0002 a0004c0004t0002 a0004c0004t0005 a0004c0007t0002 a0004c0010t0001 a0004c0017t0002 a0004c0023t0002 a0013c0031t0002	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0005t0002g0001 a0001c0005t0002g0026 a0001c0005t0002g0040 a0001c0005t0002g0042 a0001c0005t0002g0100 a0001c0005t0002g0106 a0001c0005t0002g0135 a0001c0005t0006g0001 a0001c0009t0001g0010 a0001c0009t0001g0015 a0001c0019t0004g0010 a0001c0020t0002g0001 a0001c0021t0002g0044 a0001c0021t0002g0116 a0001c0022t0001g0104 a0001c0022t0007g0001 a0001c0027t0002g0010 a0001c0028t0002g0001 a0001c0029t0001g0044 a0001c0030t0001g0001 a0001c0032t0002g0119 a0004c0004t0002g0005 a0004c0004t0002g0007 a0004c0004t0002g0016 a0004c0004t0002g0023 a0004c0004t0002g0027 a0004c0004t0002g0043 a0004c0004t0002g0096 a0004c0004t0002g0099 a0004c0004t0002g0117 a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0125 a0004c0004t0002g0132 a0004c0004t0002g0133 a0004c0004t0005g0050 a0004c0007t0002g0011 a0004c0007t0002g0022 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0010t0001g0023 a0004c0017t0002g0118 a0004c0017t0002g0124 a0004c0023t0002g0095 a0013c0031t0002g0127	203	420	0.4833	0	c.268 others(3): Show c.268G>T	p.Glu others(3): Show p.Glu90*	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	4/8	330/1735	268/1179	90/392		chr18	TogoVar
SETSIP_chr1_92069533_92080411	92075125	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00621.hp2 HG00673.hp1 others(14): Show HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp1 HG01099.hp1 HG01433.hp1 HG01433.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG03669.hp1 NA18906.hp2 NA18940.hp1 NA18966.hp1 NA19030.hp1 NA19030.hp2 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0002t0001g0000 a0002c0004t0001g0000	17	362	0.0470	1	c.286 others(4): Show c.286dupG	p.Val others(4): Show p.Val96fs	SETSIP	ENSG00000230667.7	transcript	ENST00000596516.3	protein_coding	1/1	286/879	286/879	96/292		chr1	TogoVar
SIGIRR_chr11_400716_419999	405898	A A	C C	stop_lost stop_lost	HIGH	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0036 a0002c0002t0003g0036	1	240	0.0042	0	c.123 others(4): Show c.1231T>G	p.Ter others(11): Show p.Ter411Gluext*?	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	10/10	1561/1743	1231/1233	411/410		chr11	TogoVar
SIGLEC12_chr19_51486227_51506800	51501649	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03831.hp1 HG06807.hp2 NA18906.hp1 NA18944.hp2 NA18956.hp2 NA19002.hp1 NA19030.hp2 NA19043.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0007 a0003c0009 others(12): Show a0003c0006 a0003c0007 a0003c0009 a0003c0011 a0003c0013 a0003c0016 a0003c0017 a0003c0025 a0003c0026 a0003c0027 a0003c0048 a0003c0049 a0003c0050 a0003c0051 a0003c0052	a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 others(15): Show a0003c0006t0001 a0003c0006t0004 a0003c0007t0002 a0003c0009t0002 a0003c0011t0002 a0003c0013t0001 a0003c0013t0003 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0026t0002 a0003c0027t0001 a0003c0048t0001 a0003c0049t0004 a0003c0050t0001 a0003c0051t0003 a0003c0052t0002	a0003c0006t0001g0140 a0003c0006t0001g0143 a0003c0006t0001g0144 others(28): Show a0003c0006t0001g0140 a0003c0006t0001g0143 a0003c0006t0001g0144 a0003c0006t0001g0145 a0003c0006t0001g0154 a0003c0006t0004g0014 a0003c0007t0002g0009 a0003c0009t0002g0015 a0003c0009t0002g0146 a0003c0011t0002g0044 a0003c0011t0002g0045 a0003c0011t0002g0147 a0003c0011t0002g0153 a0003c0013t0001g0149 a0003c0013t0001g0152 a0003c0013t0003g0150 a0003c0013t0003g0151 a0003c0016t0001g0156 a0003c0016t0005g0047 a0003c0017t0006g0046 a0003c0017t0006g0155 a0003c0025t0005g0048 a0003c0026t0002g0160 a0003c0026t0002g0161 a0003c0027t0001g0158 a0003c0027t0001g0159 a0003c0048t0001g0139 a0003c0049t0004g0142 a0003c0050t0001g0141 a0003c0051t0003g0148 a0003c0052t0002g0157	53	430	0.1233	0	c.85C others(2): Show c.85C>T	p.Gln others(3): Show p.Gln29*	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	152/2269	85/1788	29/595		chr19	TogoVar
SLC22A10_chr11_63284903_63316783	63290453	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0002c0009 a0002c0012 others(4): Show a0002c0002 a0002c0009 a0002c0012 a0002c0013 a0002c0014 a0002c0015 a0011c0019	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0009t0002 a0002c0012t0002 a0002c0013t0002 a0002c0014t0002 a0002c0015t0002 a0011c0019t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 others(78): Show a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0072 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0171 a0002c0002t0003g0027 a0002c0002t0003g0137 a0002c0002t0007g0038 a0002c0002t0007g0083 a0002c0002t0009g0004 a0002c0002t0009g0118 a0002c0009t0002g0025 a0002c0012t0002g0060 a0002c0013t0002g0124 a0002c0014t0002g0010 a0002c0015t0002g0107 a0011c0019t0002g0042	162	400	0.4050	0	c.288 others(3): Show c.288G>A	p.Trp others(3): Show p.Trp96*	SLC22A10	ENSG00000184999.13	transcript	ENST00000332793.11	protein_coding	1/10	551/2638	288/1626	96/541		chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63081015	A A	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0012 a0013	a0001c0001 a0001c0005 a0001c0007 others(11): Show a0001c0001 a0001c0005 a0001c0007 a0001c0011 a0001c0021 a0001c0022 a0002c0002 a0002c0015 a0005c0006 a0005c0016 a0007c0009 a0008c0012 a0012c0020 a0013c0014	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(13): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0011t0001 a0001c0021t0001 a0001c0022t0001 a0002c0002t0001 a0002c0015t0001 a0005c0006t0002 a0005c0006t0004 a0005c0016t0002 a0007c0009t0001 a0007c0009t0006 a0008c0012t0001 a0012c0020t0001 a0013c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(255): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0328 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0005t0001g0010 a0001c0005t0001g0011 a0001c0005t0001g0253 a0001c0005t0001g0305 a0001c0005t0001g0311 a0001c0005t0001g0312 a0001c0005t0001g0316 a0001c0005t0001g0318 a0001c0005t0001g0319 a0001c0005t0001g0320 a0001c0005t0001g0321 a0001c0005t0001g0322 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0001g0325 a0001c0005t0001g0326 a0001c0005t0001g0327 a0001c0005t0001g0329 a0001c0007t0001g0244 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0272 a0001c0007t0001g0274 a0001c0007t0001g0277 a0001c0007t0001g0304 a0001c0007t0001g0309 a0001c0007t0001g0315 a0001c0007t0001g0317 a0001c0011t0001g0331 a0001c0011t0001g0332 a0001c0011t0001g0333 a0001c0011t0001g0334 a0001c0021t0001g0140 a0001c0022t0001g0154 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0268 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0290 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0314 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0338 a0002c0002t0001g0340 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0015t0001g0092 a0005c0006t0002g0068 a0005c0006t0002g0069 a0005c0006t0002g0070 a0005c0006t0002g0073 a0005c0006t0002g0077 a0005c0006t0002g0078 a0005c0006t0002g0079 a0005c0006t0002g0080 a0005c0006t0002g0081 a0005c0006t0002g0082 a0005c0006t0002g0083 a0005c0006t0002g0084 a0005c0006t0002g0085 a0005c0006t0002g0086 a0005c0006t0004g0002 a0005c0016t0002g0027 a0007c0009t0001g0093 a0007c0009t0001g0094 a0007c0009t0001g0095 a0007c0009t0001g0096 a0007c0009t0001g0097 a0007c0009t0006g0353 a0008c0012t0001g0090 a0008c0012t0001g0091 a0012c0020t0001g0313 a0013c0014t0001g0089	267	364	0.7335	0	c.150 others(4): Show c.1503T>G	p.Tyr others(4): Show p.Tyr501*	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	9/10	1945/2101	1503/1659	501/552		chr11	TogoVar
SLC25A36_chr3_140936836_140985995	140956506	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00738.hp1 HG01243.hp1 HG02559.hp1 others(14): Show HG00738.hp1 HG01243.hp1 HG02559.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp1 NA18906.hp1 NA18944.hp2 NA18992.hp2 NA19000.hp2 NA19009.hp2 NA19030.hp1 NA19082.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0016 a0001c0001t0022 others(6): Show a0001c0001t0008 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0055 a0001c0001t0061 a0001c0002t0015 a0001c0002t0018 a0001c0002t0059	a0001c0001t0008g0003 a0001c0001t0008g0212 a0001c0001t0008g0213 others(11): Show a0001c0001t0008g0003 a0001c0001t0008g0212 a0001c0001t0008g0213 a0001c0001t0016g0003 a0001c0001t0022g0033 a0001c0001t0023g0033 a0001c0001t0055g0100 a0001c0001t0061g0214 a0001c0002t0015g0208 a0001c0002t0015g0209 a0001c0002t0015g0210 a0001c0002t0018g0206 a0001c0002t0018g0211 a0001c0002t0059g0207	17	261	0.0651	1	c.42- others(5): Show c.42-3dupT		SLC25A36	ENSG00000114120.14	transcript	ENST00000324194.12	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A18_chr5_1220381_1251189	1240642	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0007 others(4): Show a0001 a0006 a0007 a0008 a0010 a0013 a0015	a0001c0002 a0001c0005 a0001c0009 others(16): Show a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0001c0029 a0001c0040 a0006c0008 a0006c0021 a0006c0044 a0006c0045 a0006c0046 a0006c0047 a0007c0007 a0008c0015 a0008c0022 a0008c0049 a0010c0012 a0013c0018 a0015c0024	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0009t0002 a0001c0016t0001 a0001c0029t0002 a0001c0040t0004 a0006c0008t0003 a0006c0008t0004 a0006c0021t0004 a0006c0044t0003 a0006c0045t0004 a0006c0046t0004 a0006c0047t0004 a0007c0007t0002 a0008c0015t0004 a0008c0022t0003 a0008c0022t0004 a0008c0049t0004 a0010c0012t0003 a0010c0012t0004 a0013c0018t0004 a0015c0024t0002	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 others(140): Show a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0024 a0001c0002t0001g0051 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0282 a0001c0002t0001g0303 a0001c0002t0001g0317 a0001c0002t0001g0354 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0046 a0001c0002t0002g0051 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0099 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0127 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0257 a0001c0002t0002g0260 a0001c0002t0002g0280 a0001c0002t0002g0299 a0001c0002t0002g0302 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0325 a0001c0002t0002g0333 a0001c0002t0002g0342 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0005t0001g0140 a0001c0005t0002g0005 a0001c0005t0002g0031 a0001c0005t0002g0048 a0001c0005t0002g0097 a0001c0005t0002g0108 a0001c0005t0002g0109 a0001c0005t0002g0111 a0001c0005t0002g0112 a0001c0005t0002g0113 a0001c0005t0002g0287 a0001c0005t0002g0324 a0001c0005t0002g0326 a0001c0005t0002g0332 a0001c0005t0002g0337 a0001c0009t0001g0129 a0001c0009t0002g0011 a0001c0009t0002g0053 a0001c0009t0002g0131 a0001c0009t0002g0133 a0001c0009t0002g0137 a0001c0009t0002g0145 a0001c0009t0002g0146 a0001c0009t0002g0147 a0001c0016t0001g0002 a0001c0016t0001g0073 a0001c0016t0001g0323 a0001c0016t0001g0336 a0001c0029t0002g0253 a0001c0040t0004g0270 a0006c0008t0003g0038 a0006c0008t0003g0165 a0006c0008t0003g0192 a0006c0008t0003g0193 a0006c0008t0003g0204 a0006c0008t0003g0220 a0006c0008t0004g0176 a0006c0008t0004g0178 a0006c0008t0004g0202 a0006c0008t0004g0207 a0006c0021t0004g0034 a0006c0021t0004g0170 a0006c0044t0003g0012 a0006c0045t0004g0172 a0006c0046t0004g0212 a0006c0047t0004g0201 a0007c0007t0002g0003 a0007c0007t0002g0019 a0007c0007t0002g0026 a0007c0007t0002g0050 a0007c0007t0002g0055 a0007c0007t0002g0074 a0007c0007t0002g0080 a0007c0007t0002g0318 a0008c0015t0004g0222 a0008c0015t0004g0228 a0008c0015t0004g0229 a0008c0015t0004g0230 a0008c0015t0004g0232 a0008c0022t0003g0231 a0008c0022t0003g0234 a0008c0022t0004g0236 a0008c0049t0004g0239 a0010c0012t0003g0039 a0010c0012t0003g0214 a0010c0012t0003g0215 a0010c0012t0003g0216 a0010c0012t0004g0213 a0010c0012t0004g0217 a0013c0018t0004g0013 a0013c0018t0004g0203 a0015c0024t0002g0018	181	453	0.3996	0	c.957 others(3): Show c.957C>G	p.Tyr others(4): Show p.Tyr319*	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	7/12	1054/2095	957/1887	319/628		chr5	TogoVar
SNX27_chr1_151607050_151704080	151692406	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(67): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02165.hp2 HG02273.hp1 HG02602.hp2 HG02622.hp1 HG02886.hp1 HG02886.hp2 HG03239.hp1 HG03492.hp1 HG03688.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18940.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19043.hp2 NA19064.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0021 a0001c0001t0032 a0001c0001t0037 a0001c0001t0061 a0001c0001t0070 a0001c0001t0077 a0001c0001t0080 a0001c0001t0083 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0189 a0001c0001t0001g0195 others(65): Show a0001c0001t0001g0002 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0273 a0001c0001t0001g0280 a0001c0001t0001g0339 a0001c0001t0001g0356 a0001c0001t0003g0134 a0001c0001t0004g0204 a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0218 a0001c0001t0004g0222 a0001c0001t0004g0237 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0006g0103 a0001c0001t0006g0170 a0001c0001t0007g0185 a0001c0001t0008g0104 a0001c0001t0008g0191 a0001c0001t0008g0201 a0001c0001t0008g0208 a0001c0001t0008g0245 a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0008g0250 a0001c0001t0008g0251 a0001c0001t0009g0167 a0001c0001t0009g0168 a0001c0001t0009g0184 a0001c0001t0013g0260 a0001c0001t0021g0174 a0001c0001t0032g0200 a0001c0001t0032g0209 a0001c0001t0037g0192 a0001c0001t0037g0194 a0001c0001t0061g0187 a0001c0001t0070g0345 a0001c0001t0077g0188 a0001c0001t0080g0270 a0001c0001t0083g0231 a0002c0002t0001g0003 a0002c0002t0001g0202 a0002c0002t0001g0226 a0002c0002t0001g0227	70	168	0.4167	2	c.124 others(15): Show c.1240-4_1240-3dupTT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	8/11				INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA45_chr1_212825141_212852649	212829026	ACACAAAG others(11290): Show ACACAAAGGAACATAAGCCAAGTTAAGATCTGAAGAGGCTCATGCCTGTA ATCCCAGCACTTTGTGGGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAG TTCGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATA CAAAAATTAACCTGGCATAGTGGCACACACCTGTAGTCCCAGCTACTCAG GAGGCTGAGATGAGAATTGCTTGAACCTGGAAAGCAGATGTTGCAGTGAG CCAAATCACACTGCTGCACCCCAGCCTGGGCAACAGACCAAGACTCCGTC TAAAAAAAAAAAAGTGATTTGAAGAGACTGTGATCCAAGAAGCAATGAAA CGGAGGTGATAGTAGCCAAATAGGATGTGGCCATGAGATAATTCTAACCA TCACCACTGTGGGGATGGACAACGTAATGTAACAGAAAGCCCTGTCTACA GGCACCTTATATTAGCCTCTCAAATATCTCCTTATTCAAATAATCAAAAC CATAACTTTAACAGAGGAAGTTAATCTATCATTTATAAGCAAGTGTTAAC TTTTTAGCCTTCAACCTGATCAGTGGGGTTGGTCAATATATTCCATTGAG TTATAGAAACAAATATAAACTATTATTTAAACATTTTAGATTACTAAGGA GAAGATTGCCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTCTGGG ATGCCAAGGCGAGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGA CCAACATGGTGAAATGTCATCTCTACTAAAAATACAAAAATTAGCTGGGT GTGGTGGCGTGCGCCTGTAGTCCCAGCTTCTCAGGAGGCTGAGACAGGAG AATAGCTTAAACCCAGGAGGTGGAGATTGCAGTGAGCTGAGATCATGCCA CTGCATTCCAGCCCGGGGAACAGAGCAAGATTCTGTCTCAAAAAAAAAAA AAAAAAAAAGGGATCACTGTAAACTAAACTCTTAGGTATTCATGTTTGAA AGTAACTAAAAAACTCAAATCCTCTCTTCAAATCATCTAAGTTTAAATGA TAGAATGGAATGAATAAAGATATGTTTTATGTGACTTAATGTTTTTTGAG GGATCTAGTGAATACTTTTGTTTAGCTTTGTTTATAATTAATAATTTGTA AATAATTTAGACACACTGAAGAAGAATCAAAGAGAATGTATTTCCGTGTG TCTCTGGAGATGCACTTTATCCAAATATGGCATTATCTGAAAAAATAAAA AATAAAAAGTATTTGTTATATAACTTATAACACATTTCATGGTTTTTAAA ATAACCCTGGAGGGCAGAGTATTGTTTTTCAGATACAGGAACTAAGGTTT AGAAACACCAAATGGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCA CTTTGGGAAGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTA GCCGGGCGTCGTGGCGCGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAG ACAAGAGAATCGGTTGAACCCAGGAGGCGGAACGTGCAGTGAGCCGAGAT CACACCACTGCACTCCAGCCTGGGCGAAAGAGCAAGACTCCGACTCCAAA AAAAAAAAAAGAAACACCAAATGGCGGCCAGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGAGAGACTGAGGTGGGCGGATCACGAGGTCAAGAG ATGGAGACCATCCTGGCCAACATGTTGAAACCCCCATCTCTACTAAAAAG ACAAAAATTAGCTGGGTGTGGTGGGATGCGCCTGTAGTCCTAGCTACTCA GGAGGCTGAGGCAGGAGAAATCAGTTGAACCCGGGAGGTGGAGGTTGCAG TGAGCCGAGATCGCAACACTGCATTCCAGCCTGGTGACAGAGCAAGAAAA AATCTCAAAAAAAATTAGCTGGGTGTGGTGGTGCACACCTGTAATCCCAG CTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGGCAGCAGAG GTTGCAGTGAGCCAAGATCGAGCCACTGCACTACAGCCTGTGACAAAGTG ACAGAGTGAGACTCCGTCTCAATAAATTAAAAAAAAAAAAAGAAAGAAAG AAACACCAAATGGTTGGGCACGGTGGCTCACGCCTGTAATCCCAGCGCTT TGGGAGGCTGAGGCAGGCAGATTGCTTGAGGTCAAGAATTTGAGACCAAC CTGGGCAACATGGCAAAATCCAGACTCTATTAAAAAAATACAAAAGTTAG CCAAGCATGGTGGCACATGCCTATAGTCCCAGCTACTCGGGAGGCTGAGA GGTAGGAGGATCGCTCGAGCCCAGGAGGTTGAGGATACAGTGAGCTATGA TCACACCACTGCGCTCCAGCCCCAGTGACAGAGCAAGACTCTGCCTCTAA AAAAAAAAAAAAAAACCTCAAATTACTAAAAGCATGATACTAGTCAATGA CAGAGGCAAAACTTGAACCCAGGTGTTTTTAATTCTATATATTTAAATAA ACTGCCCCCCTTTTGGGCTCCACATCTCCAAGTGGAAGATTGAAAAGAGG GCCTGGAAATCTCGGACTAAGAGAACTTCTTTCCTAGTCTTCACGTCACT ATTAATAGAAGCAAAGAGGATCACCCAGAACTCCAAATACTCTATGCAAA ATCTGTAACATTACTTCCCCTCAACACACAGGCCTCCCCACCAGGTTAGA CCACCGCTAGGTTCGACCATCAGGACTAATCTCATTCTGTCCCTTATCCC TGTTTACACTGGACTCCTCAAGGAACCCAGGAGTCCTGGGTCATCCCTCA TGCCCTGGATAGTAATCCCCATATAGTTATATGGGCAGCAATACACCCTC CATCCAACACTTCCTATCCCCCACCCTGCTGTTTTCTGTTTCCCCATAGC TCTTACCCATTTATCACTATCTGATCGGACATTTACTTCCTTTTTTTTTT TTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGTAGTGCAG TGGCGCGATCTCTGCTCACTGCAACCTCCTCCTCCCGGATTCCAGTGATT CTTCTGCCTCAGCCTCCAGAGTAGCTAGGATTACAGGCATGCACCACCAT GCCCAGCTAATTTTTGTGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGA ACTCCTGACCTCAGGTGATCCACTCGCCTCGGCCTCCCAAAATGCTGGGA TTACAGGCGTGAGCCACTGTGCCCGGCTGAAATGTACTATTTTTTAACTT GTTTATCTGGCTCTCTACCCAGTGAAATCTAAGCTTTTTTTTTTTTTTTT TTTTTTTTTTAGAAATAGAGAAGAGGTCTCTCTATGTTGCCCAGGCTACT CTCAAACTCCTGGGCTCAAGGGATCCTCCTGCCTCAGCCTACCAAAGTGC TAGGATTACAGGCATGAGCCAGCACACCAAAACCTAAGCTTTTTGAGGCA AGATTTTATTCATCACTGTATTGACAAGCACGTAGAAGAGTGCCTGACAT CAAGTAAGCACTGATATATATTCGTTGAATGAATAAAGAGTAAATGAGTG TTTCTTCCTCTTGCACAGGTATGCAAAGGAAAGGAGTACAGTGCCTTCCA ATTCGTATTGAATATGTCCAGCAAAATTACTGTATTATTACCCTCCTGCA TTTCTAAAGATTATTCCACAGCAACCAACTAAGGTTGCTGTGAGAAACTC TTAGGTTTGTGAGCCATTGCCCAAGGACATAGCTATTGGTCTCGAGAGGA ATGAGGTAAGTTCTACCACTACTTCTGGGAAAGTATATTCCATGTCCCAA CATTTATTCAATCAGCCAGGAAACGTTTCCTGAGTTCCTAATTTGTGCCA GACACTGTTCTAGGGACTGAAGATAAAGTGGTGAAAAAAGCAGATACCAT CCCTGCCTTCAAGGAGCCTAGCCTTCATTAGGGAGTGATAAACACTGTGG TAAAAAAGAAAGCTGGGTAAGGGATTATAGAGTGTTGAGGAGTGCTGCTT AGATAGGGTGGTTTCTTTTGTTTATTTTTAATTTCAGTAGTTTTTGGGGT AAAGGTAGGTTTTGGTTACATGGGTAAGTTCTTCAGCGGTGATTTCTGAG ATTTTGGTGCACCCATCAACCGAGCATATAGTCTTTTATTCCTTGCCCCT CTTTTACCTTTCTTTCCCTTGGGGTTCCTAAAGTCCATTATATAATTCCT ATGCCTTTGCATCCTCATAGCTTAGCTCCCACTTATAAGTGAGAACAGAC AATATTTGGTTTTCCATTCCTGAGTCACTTCACTTAGAATAATGGCCTCC TGGCCGGGCTCAGTGGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCCG AGATGGGTGGATCACTTGAAGCCAGGAGTTTGAAACCAGTCTGGCCAACA TGACGAAACCCCATCTCTACTAAAATACAAAAAAAAAAAAAAAAAAAAAT TAGCCAGGCGTGGTGGCAGGCAATCCCAGCTACTTGGGAGGCTGAAGCAC TTGAACCTGGGGGCAGAGGTTGCAGTGAGCTGAGATCACGTCATTGCACT TCAGCCTGGGTGACAGAGAGACTCAGCTTTCACAGAATTGAAGAGAGTTG GGGCCTTGCTCTGGGTTAGGCTTTGACTTAAGGAAATGTTGTGGCTGGGT TCATCTGTCCAGATCACTGAAACTTTCTCCCTATCAGCAATAAGGCTGTT TTGCTTTCTTATCATTTGTGTGTTCACTAAAGGGAATTTTAAATTTCCTT CAAGGGTTTTTCCTTTGCATTGATAATTTGGATAAATGACTGGCACAAGA GGCCTGGCTTTTGGCCTATCTTGGCTTTTGCCATGCCTTCCTCACTAAGC TTAATCATTTCTAGCTTTTGATTTAAAGTGAGACGTAATACTTCCTCCTT TCATCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAATGCTAGGATTATA GGCATGAGCCACCTTGCCCAGCCCTAGAGTTATTTTTGAATAAAACAAAC ACATGACTGTTACAAATTAACTCTAAACACAGTGGAGAATCTCAGCTTTC TACACCACACTGTATCACACTCTACTCCACTTCCTAAGAGCACTGGGCAA GTGTAAAGTCACAGCCACATCAAAGAATTGAAATCTCAAGTGTGGTGATT CTTTTGTTTCTGATCTAAATTAATAATTTGTTGGTTGTATTAGATATGAT TACACACCCCCTTCTCTTTTTTTCAAATAAATGAAAAAATGCTATCTCAG CTGCCTGCCTAGACTAAGAAACAAGTATTCACAATGAAGGTATTTATCAG CTCCCCTTCTTCCTCCTATAAAATAATACCACCACCATCACCACCATGCC ATCCCCTGCCCCCAACAACCTTCGTCCACTTTTTTTTTTTTTTGAGAAGG AGTCTCACTCTGTCGCCCAGGCTGGAGTACACCGGAGTGATCTCGGCTCA CTGCAACCTCCACCTCTGGGATTCAAACAATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTAAAGGTGCGTGCCACCACGCCCAGCTAATTTTTGCA TTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACT CCTGACCTCAGGTGATCCGCCTGCCTTGGCCACCCAAAGTGCTGGGACTG GAGGTGTGAGCCACCGCGCCCGGCCTCTCCACATTTTATTAGGGCTTTTT GTGTGATATTTGTCATCAAAAGGATCTCCACTGCACCTCAATTTTGCACA TGAAATGTTTGTAAAGGCCAGAGAAATTGACGAGATAGCAGGTTTCTGAA GTTTTTGTGGTCTATTGTAACTATTATAACAACTCTTATCAAAATGTGGT TCTCAGGCCATTGGCATCAGCATCACCTTAGTCTGCTGAGAATGCAGATT TCCAGGCACCTCCCTAGAGTCTACTGAATGAGATGGCCTGAAGCTGAGGC CTGGGATTCTGTATGCATAAAAAAAGAGAGTCTCTGGTCTATAATAGATC TTACAATCCACCAGCCTAGTTTAATGACACTTTTACCTTCAAACAGATTG CCTTTATGCTATACCAGGGCAATACTCAGGGGACCTCTTTCAATCCCAGA AATTCTTCCTAATTTTTAGGAATACCTACAAATCATTCCTATACATTGGT TAAGAATCCTATCATAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGAGAGGCCAAGGTGGGTGGATTACCTGACGTTGGGAGTTCAAGA CCAGCCTGACCAACATGAAGAAACCCGGTCTCTACTAAAAATACAAAAAA ATCAGTCAGACTTCGTGGTGCATGCCTGTAATCCCAGCTACTCGAGAGGC TAAGGCAGGAGAATCGCTTGAATCCAGATGGAGGTTGCTGTAAGCTGAGA TCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAA AAAACAAAAAAAGAATCCTATCATAGGCTGGGTGTGGTGGCTCATGCCTG TAATCGCAGCACTTTAGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGG AGTTTGAGACCAGCCTGGCCAACAAGGTGAAATCCCGTCTCTACTAAAAA ATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTATTCCCAGCTA CCTGGGAGGCTGAGACAGAAGAATCGCTTGAACCCGGGAGGTGGAGGTTG CAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGAGCAA AACTCCATCTCAAAAAAAAAAAAAAAAATCCTATGATAACTTCTTACTTT TTGGTGGAAAGTGCTTTCTCTCCATGTGAGCAAGGAGACTCAGCTTGATC CAGGAGCTCCTGCCACTGTTGGGAACAGGCTCTTTGGTTGTGGTATCAGT AAAGGACTGATAGGCATCCGGGAAGTGCCTCTTTTGAACTCTCAGTAAGC TGACTTGATTGCTTCGTTCCACCAAGCAGTTGGATTCACGCTTTTTGTTT ATCTCCTCCAGGAGATGTTGTTTGCTTACTCCATGTTTTTTCATTATTTC AATGGTTCTGTTTATAGATGCCATTATGGTCACAAACCAATTGTCAAGTG ATTCTTGCTGTCCTACAAACAAATGAAAAAATACTTTCAATTGTCTTTTT GACTCAGAAGCCAGTATTCACAATCACGTTTGCCAGTTTCTCTTTTTGCC TTCTATAAAATAACACCACAACCACCACCAAGCCTCCCACCCCACGCTTC ACTTTTTTATTTACTTATTTTTTTAGACAGGGTCTTGCTCTGTCGCCCAG GTTGACACACAGTGGCATGATCTCAGCTCACTGCAACTTCCACCTTCCAG ATTCAAGTGATTCTTGTGCCTCAGCCTCCTAAGTAGCTGGAATTACAGGC GCGCACTACCATGCCTGGCTAATTTTTCTATTATCAGTAGAGATGGGGTT TCGCCATGCTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAGGTGATCCAC CCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGTGCC CGGACAGCACACCTCACTTTTTTTTTATTTTTTTATTTTTTGAGATGGAG TCTCACTCTGTTGCCAAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACT GCAACCTCCGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCTGA GTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTTTTT TTTTTGTATTTTTAGTAAAGACGGGGTGTCACCATATTGGCCAGGTTGGT CTCGAACTCCTGAAGTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCATGAGCCACCGTACCCGGCCACACCTCACTTTTTATTAT TGTTTCTTAAGGGTTTTATTTTTTGTTTTTTAGGTGTTCTTCAGGGGAAA CAAAGGTTAAAAAGATATGGTAAGAGGATATATTATTGTTTTTTAAAATT ATACTATGCATTGTTTTTTGCTTTTAGAAGCATTATTTCTTCTGATTATA AAAATAATACATGTTTATTACATATATTAATAATGTAATAGATAAATAAT ACATGTTTAATACATGATTATAAAAATAATACATATTCATGGTAGATAAT TAAGAAAATACAGAAAAAGATAAAGTAGAAAAGTTAAAATTACTCTCGAT CCAGAGACATCCATTAATATTTTGGGTGTTACTTTCCCAATAAGTATCCA AAGGGATTTTATTTTTTAAAAGTGGCGGCCAGGCGCTGTGGCTCATGCCT GTAATCCCAGCACGTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGA GTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAAT ACAAAAAATTAGCCAGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTC AGGAGCCTGAGGCATGAGAGTCGCTTGAACCCGGGAGGCAGAGGTTGCAG TGAGCTGAGATCACGCGATTGCACTCCAGCCTGTGCGACAGTGTGAGACT CTGTCTCAAAAAATAAAATAAAATAAAGTGGCCAGGCGCAGTGGCTCACG CCTATAATCCCAACACTTTGGAAGGCCTAGGTGGGAGGATCACTTAAGCC TGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCC TGGGTGTCAGAGCAAGATTTGGAAAGATAGCGAAATATTCAGCACTGATA AATGATACAGTCCACAGTCTCAAGAAGCTCAAACAATAGCAGTCAGGATT TTTAAAAAGCCCACGCTGAGATTACAGTGAACTTAAAAAGAAAAGAAAAT CTTAAAAGCAACCAGAGAATAAAAGGAGGGACAATTGGACCAACAGCTGA CTCCTCAACAAGCAATAACATAAACCAGAAGACAAAGAAATGGGGCTGGG CGTGATGGCTCACACCTACAATCCCAGCACTTTGGGAGGCCGAGGTGTAT GGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGTTCAACATGGCAAAA CCCTGTCACTACTAAAAATACATAAAAAAATTAACCGGGCATGGTGGTAT GCACTTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGTTTGA ACCTGGGAGGCGAGGTTGCGGTGAGTCAAGATCATAGCACTACACTCCAG CTTGGGCGGCAGAGCAGGACTTTGTCTAAAAAAAAAAAAAAAAATACATT CGTCATCATCAGTCACTAGGAAAGTGTAAATCAATACTACAATGAGATAT CACTACATACCACTAGAATGGCTGAAATGAAAAAGACTGACCAAACCATG TGTTAGCAAAGATATGGAGGACCTGGAATTCTCATATGCTGCTAGTGAGA ATGTAAAATGGAACAATGTCTGGAAAATAATCATGCAGCTTCTTAAAAAG TTAAACATACTCCTATCATTTGATCCATTCCTAGGTATTTACCCTAGAGC AATGAAATTCTCCAAACACATGCATAAAGAAATGTATCTGTACATATGAA AACTAACACATGAATGTTAATCACAGCTTTTTAAAAAACTTTTGTTGTTG TTGTTGTTGTTTTTACACAGCTTTATTTTTATTTATTTATTTTTGAGACA GGGTCTCTTTCTGTCACCCAGGCTAGAGTGAAGTGGCGTGACCATGGCTC ACGGCATCCTCGACCTCCCAGGCTCAAGCCATCTTCCCACCTCAGCCTCC CAAGTAGCTGGGATACAGGCGCAGGCCACCACACCTGGCTATTTTTGTTT TTATTTTTCATAGAGATGAGGTCTCATTATGTTCCTAAGGCTAGTCTTGA ATCCTGGGCTCAAGGGATCCTCCTGCCTTGGCCTCCCAGAGTACTGAGAT TACAGGTGTGAGCACAGCCACCAGGCCCAGCCCACTGCTTTATTTTTATG AGCCAAAAAGTTCTAACAACCCAAATGTCCATCAGAAGCAGAACAAATAA ATTGTGGTATATGTGCACAATTGACACTGAGTTATAAAATATATTTATAT ATATTATATATATATATAATATATTCCTTTTACCTGAGATGCTAATTCAT CAATATATATTTTTGAGTAGTGTTCATATATTGTTGATAAACACAATATT ATGGCTGAAGCTCAAAATAACTATGCTGAGTAAAAAGAAAAAAAAAAAGC CAGACAAATCAGAATGTATAGTGTACGATTCCATGCATATAAAACTCTAG GAAATATTAGGCTAGGTATGGTGGCTCATGCCTATAATCCCAGCACTTTG GAAAGCTGAGGAAGGAGGACTGCTTGAGCTCAGGAGTTCAAGACCAGACT AAGCAATATAATGAGACCTTGTCTCTACAGAAAATTCAAGAATTTAACTA GGTGTGGTGGCACCTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGG AAGGATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGTGATCACA AAACTGCACTCCAGCTTGGGCAACACAGCAAGACCCTATGTCAAAAAAAA AAAAAAATGCTAGGAAATATGAAGTCCCCTACAGTGACAAATGAAAATCA ATGGTTGCTTGGGAATGGGGAAAGGTAGGCAGCAAGGGTGGCAGGGATTA CAAGGGATATGAATAAACTTTGGGGCTGATGAATATGTTTATTATCTTAA TTGTGGTGATGCTTTCCTGGGTGTATGCATATGTCAAAAACATCAAACTG TACATTTTAAACATGGACAGTTCATTGTATGTCAATGACCAGTCAATAAA GCTCTTACATAAAATTGGGCTGAGTACCTAGCACATTGCCTAATGAATAT CAGGTGGTTGATAAATATTTTAATGAATGAATAAATAGTATATATTACTT ACAAGTTTTGATTTTCTTTCACTTTAATATAGTTATTGTGAGAATTTTTC ATGTCTTTACATATGTCATTAGTAATAAAAATGTAAGATTTGACAATGTA ATAGTCTATCATGTGAATTTATAATTTTTTTTCTTTTTTTAAATTTAATT TTAGTGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGA GGCCAAGGCAGGCAGATCACCTGTCAGGAGTTCAAGACCAGCCTGGCCAA CATGGTGAAACCCCGTCTTTACAAAAATACAAAACTTAGCCGGGCGTGGT GGCGCGCACCTGTAATCCCAGCTACTTGGAAGGCTGATTCGGAAGAAT	A A	exon_loss_variant exon_loss_variant	HIGH	HG00738.hp1 HG00741.hp2 HG03492.hp1 others(8): Show HG00738.hp1 HG00741.hp2 HG03492.hp1 HG03688.hp1 HG04199.hp1 NA18952.hp2 NA18973.hp1 NA18990.hp1 NA18993.hp1 NA19000.hp1 NA20300.hp2	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0002 a0002c0000t0002	a0002c0000t0002g0010 a0002c0000t0002g0017 a0002c0000t0002g0022 others(1): Show a0002c0000t0002g0010 a0002c0000t0002g0017 a0002c0000t0002g0022 a0002c0000t0002g0056	11	400	0.0275	-11297	c.-38 others(14): Show c.-38-4136_*1215del		SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding	3/3					chr1	TogoVar
SPEGNB_chr2_219491131_219503287	219496868	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00438.hp1 HG00673.hp2 others(26): Show HG00280.hp2 HG00438.hp1 HG00673.hp2 HG00738.hp2 HG01123.hp1 HG01257.hp2 HG01515.hp1 HG01891.hp2 HG01981.hp2 HG02027.hp1 HG02083.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 NA18747.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18962.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18991.hp2 NA18992.hp2 NA19011.hp2 NA19057.hp1 NA19068.hp1 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0003 a0002c0003t0001g0006	29	374	0.0775	1	c.188 others(8): Show c.188_189insA	p.Val others(4): Show p.Val64fs	SPEGNB	ENSG00000286095.3	transcript	ENST00000651166.2	protein_coding	3/5	276/902	189/717	63/238		chr2	TogoVar
SRSF3_chr6_36589362_36610600	36601940	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00738.hp1 NA18957.hp2 HG00738.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0152 a0001c0001t0006g0153	2	246	0.0081	10	c.468 others(22): Show c.468-12_468-3dupTTTTTTTTTT		SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	5/5				INFO_REALIGN_3_PRIME	chr6	TogoVar
SULT1C3_chr2_108234968_108265886	108259008	AAAACTTG others(15): Show AAAACTTGGTCAGGTGATGTTAT	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(52): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02056.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18989.hp2 NA18990.hp1 NA19009.hp2 NA19057.hp2 NA19070.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp1 NA21309.hp2	a0003 a0014 a0016 a0003 a0014 a0016	a0003c0002 a0003c0027 a0014c0021 others(1): Show a0003c0002 a0003c0027 a0014c0021 a0016c0017	a0003c0002t0001 a0003c0002t0004 a0003c0027t0004 others(2): Show a0003c0002t0001 a0003c0002t0004 a0003c0027t0004 a0014c0021t0002 a0016c0017t0004	a0003c0002t0001g0094 a0003c0002t0001g0133 a0003c0002t0004g0002 others(19): Show a0003c0002t0001g0094 a0003c0002t0001g0133 a0003c0002t0004g0002 a0003c0002t0004g0009 a0003c0002t0004g0014 a0003c0002t0004g0032 a0003c0002t0004g0048 a0003c0002t0004g0052 a0003c0002t0004g0111 a0003c0002t0004g0135 a0003c0002t0004g0136 a0003c0002t0004g0137 a0003c0002t0004g0138 a0003c0002t0004g0139 a0003c0002t0004g0140 a0003c0002t0004g0141 a0003c0002t0004g0142 a0003c0002t0004g0144 a0003c0002t0004g0149 a0003c0027t0004g0009 a0014c0021t0002g0001 a0016c0017t0004g0002	55	374	0.1471	-22	c.669 others(29): Show c.669_690delTTGGTCAGGTGATGTTATAAAC	p.Trp others(5): Show p.Trp224fs	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	7/8	792/1244	669/915	223/304	INFO_REALIGN_3_PRIME	chr2	TogoVar
SYNE2_chr14_63848004_64231433	63993818	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01109.hp2 HG01257.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01993.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp2 NA18953.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18980.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(38): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0012 a0015 a0016 a0017 a0019 a0020 a0023 a0024 a0026 a0028 a0031 a0032 a0034 a0035 a0040 a0041 a0043 a0046 a0047 a0049 a0050 a0051 a0052 a0053 a0055 a0057 a0061 a0062 a0063 a0065 a0069 a0070 a0071 a0073	a0001c0004 a0001c0005 a0001c0009 others(51): Show a0001c0004 a0001c0005 a0001c0009 a0001c0018 a0001c0025 a0001c0054 a0002c0001 a0002c0058 a0003c0002 a0003c0015 a0003c0034 a0003c0035 a0004c0003 a0006c0010 a0007c0007 a0011c0017 a0011c0043 a0012c0008 a0015c0016 a0016c0014 a0017c0012 a0019c0031 a0019c0032 a0020c0024 a0020c0048 a0023c0087 a0024c0041 a0024c0042 a0026c0037 a0028c0081 a0031c0038 a0032c0049 a0034c0072 a0035c0036 a0040c0029 a0041c0039 a0043c0050 a0046c0046 a0047c0027 a0049c0026 a0050c0082 a0051c0052 a0052c0040 a0053c0047 a0055c0059 a0057c0066 a0061c0033 a0062c0062 a0063c0061 a0065c0060 a0069c0051 a0070c0045 a0071c0030 a0073c0063	a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 others(59): Show a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0009t0002 a0001c0018t0001 a0001c0025t0002 a0001c0054t0001 a0002c0001t0001 a0002c0001t0003 a0002c0058t0002 a0003c0002t0001 a0003c0002t0006 a0003c0002t0009 a0003c0015t0002 a0003c0034t0001 a0003c0035t0002 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0006c0010t0004 a0007c0007t0001 a0011c0017t0003 a0011c0043t0001 a0012c0008t0003 a0015c0016t0001 a0015c0016t0005 a0016c0014t0001 a0017c0012t0001 a0019c0031t0004 a0019c0032t0001 a0020c0024t0001 a0020c0048t0001 a0023c0087t0002 a0024c0041t0001 a0024c0042t0002 a0026c0037t0001 a0028c0081t0004 a0031c0038t0002 a0032c0049t0002 a0034c0072t0002 a0035c0036t0001 a0040c0029t0003 a0041c0039t0004 a0043c0050t0005 a0046c0046t0001 a0047c0027t0001 a0049c0026t0002 a0050c0082t0001 a0051c0052t0005 a0052c0040t0002 a0053c0047t0003 a0055c0059t0002 a0057c0066t0004 a0061c0033t0002 a0062c0062t0001 a0063c0061t0002 a0065c0060t0007 a0069c0051t0002 a0070c0045t0001 a0071c0030t0003 a0073c0063t0004	a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 others(75): Show a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 a0001c0005t0004g0062 a0001c0009t0002g0027 a0001c0018t0001g0026 a0001c0018t0001g0065 a0001c0025t0002g0084 a0001c0054t0001g0046 a0002c0001t0001g0014 a0002c0001t0001g0078 a0002c0001t0003g0033 a0002c0058t0002g0038 a0003c0002t0001g0005 a0003c0002t0001g0006 a0003c0002t0001g0010 a0003c0002t0001g0091 a0003c0002t0001g0094 a0003c0002t0006g0093 a0003c0002t0009g0009 a0003c0015t0002g0011 a0003c0015t0002g0012 a0003c0034t0001g0015 a0003c0035t0002g0070 a0004c0003t0002g0051 a0004c0003t0002g0066 a0004c0003t0003g0052 a0004c0003t0004g0050 a0006c0010t0004g0079 a0006c0010t0004g0080 a0007c0007t0001g0143 a0007c0007t0001g0144 a0007c0007t0001g0145 a0011c0017t0003g0025 a0011c0017t0003g0088 a0011c0043t0001g0089 a0012c0008t0003g0007 a0012c0008t0003g0064 a0012c0008t0003g0095 a0015c0016t0001g0150 a0015c0016t0005g0148 a0016c0014t0001g0098 a0016c0014t0001g0099 a0017c0012t0001g0073 a0017c0012t0001g0097 a0019c0031t0004g0102 a0019c0032t0001g0103 a0020c0024t0001g0146 a0020c0048t0001g0043 a0023c0087t0002g0077 a0024c0041t0001g0036 a0024c0042t0002g0069 a0026c0037t0001g0013 a0028c0081t0004g0041 a0031c0038t0002g0028 a0032c0049t0002g0108 a0034c0072t0002g0018 a0035c0036t0001g0001 a0040c0029t0003g0086 a0041c0039t0004g0067 a0043c0050t0005g0042 a0046c0046t0001g0123 a0047c0027t0001g0083 a0049c0026t0002g0074 a0050c0082t0001g0100 a0051c0052t0005g0053 a0052c0040t0002g0149 a0053c0047t0003g0090 a0055c0059t0002g0049 a0057c0066t0004g0076 a0061c0033t0002g0075 a0062c0062t0001g0072 a0063c0061t0002g0034 a0065c0060t0007g0024 a0069c0051t0002g0047 a0070c0045t0001g0124 a0071c0030t0003g0101 a0073c0063t0004g0030	78	143	0.5455	1	c.264 others(7): Show c.2647-3dupT		SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	21/115				INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT15_chr10_46574128_46597064	46583722	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(39): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01256.hp1 HG01257.hp1 HG01433.hp1 HG01433.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02615.hp2 HG02683.hp2 HG02886.hp2 HG03225.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 NA19043.hp1 NA19078.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0002c0004 a0003c0013 a0008c0018	a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0013 a0001c0009t0002 a0002c0004t0002 a0003c0013t0003 a0008c0018t0003	a0001c0001t0020g0057 a0001c0002t0001g0034 a0001c0002t0002g0006 others(19): Show a0001c0001t0020g0057 a0001c0002t0001g0034 a0001c0002t0002g0006 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0024 a0001c0002t0002g0031 a0001c0002t0002g0067 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0087 a0001c0002t0002g0093 a0001c0002t0013g0088 a0001c0002t0013g0089 a0001c0009t0002g0105 a0002c0004t0002g0012 a0002c0004t0002g0075 a0002c0004t0002g0085 a0002c0004t0002g0086 a0003c0013t0003g0097 a0008c0018t0003g0096	42	284	0.1479	1	c.652 others(6): Show c.652-3dupC		SYT15	ENSG00000204176.14	transcript	ENST00000374321.9	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr10	TogoVar
TAC4_chr17_49833300_49853069	49844056	TCACTCAC others(4): Show TCACTCACCTCC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00639.hp1 HG00738.hp2 HG01106.hp1 others(10): Show HG00639.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG02165.hp2 NA18747.hp2 NA18966.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0006 a0002c0002t0001g0101 a0002c0002t0001g0102	13	404	0.0322	-11	c.196 others(20): Show c.196_199+7delGGAGGTGAGTG	p.Gly others(4): Show p.Gly66fs	TAC4	ENSG00000176358.16	transcript	ENST00000436235.6	protein_coding	2/5		196/324	66/107		chr17	TogoVar
TAF11L10_chr5_17592232_17602828	17597711	TGGGTGCT others(724): Show TGGGTGCTTCCAAGTTCCCGTCTAGGTCCTCAGGGATTCCATCCTTCTTG CTGCCCTTCAGACCTCGGGGCATGGCGAGCATCTCAGCAGACACACCTGT TTGCCTGCCGGTCTCCATGGGTGAGATTCAAGTCTGCTCCGTGACAGCAG CTGTACAGGCAGAAGTTCCGGCTGGGGTGGTTTGATTGTGGATCTGCGAT GAGAACCTTTCAAAGATTTTAGCTGCTGTGTTTCTGCTGAGCCAGTTTCG CCGTAACCGGACACGGCTCCCGGCCGCCCCTTCCCACACACAAACACACA CACTGAATTTTCTCGCTTCCACAGTGTGAAGAAACTTGTGGAAGGAGAGT ATGTTAGTTTTAGGTCAATGCAGAACGAATTCTCACCAATTTTGGGTATT TAAAACAAACACCAGCTCACAGGTCAGAAGTTCTGCTAGGCCAAGTGACT GCCTCCTGCTCAGAGTCCCACGAGGGACCTCCAGGATGGGTCTGGCTGTG CGGTCGTTGCCTCCACCTGAGAAGGGTCTGGCTTCGATCCGATTCGAGTT GGTGGCAGAATTCAACAATGCCTCAGGGTTGCGAGCCCCAGGCCCACTTT TTTGTTCTGCCTGCTGCCGTGAGGATGCTCTCAGCTCCTACCCGTGCTGC CCAATGTCTGGGCCGAGAGGATCCCTGGGTGGACACAATCCAGTGCTGGG GAATCTCACTCTGAGCTCACTTCCTGATCCTG	T T	start_lost others(1): Show start_lost conservative_inframe_deletion	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0007 a0002c0002 a0002c0006 a0002c0007	a0002c0002t0001 a0002c0006t0001 a0002c0007t0001 a0002c0002t0001 a0002c0006t0001 a0002c0007t0001	a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000 a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000	150	352	0.4261	-731	c.-61 others(8): Show c.-614_117del	p.Met others(10): Show p.Met1_Pro39del	TAF11L10	ENSG00000284356.1	transcript	ENST00000638842.1	protein_coding	1/1	117/597	1/597	1/198		chr5	TogoVar
TAP2_chr6_32820415_32843739	32828908	A A	G G	stop_lost stop_lost	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0006 others(9): Show a0001 a0002 a0006 a0008 a0009 a0014 a0015 a0016 a0017 a0018 a0020 a0023	a0001c0001 a0002c0002 a0002c0006 others(19): Show a0001c0001 a0002c0002 a0002c0006 a0002c0008 a0002c0016 a0002c0032 a0002c0033 a0002c0035 a0002c0036 a0006c0011 a0006c0014 a0006c0021 a0008c0019 a0008c0029 a0009c0013 a0014c0024 a0015c0041 a0016c0028 a0017c0044 a0018c0038 a0020c0025 a0023c0030	a0001c0001t0024 a0002c0002t0001 a0002c0002t0003 others(28): Show a0001c0001t0024 a0002c0002t0001 a0002c0002t0003 a0002c0002t0026 a0002c0002t0037 a0002c0002t0038 a0002c0006t0001 a0002c0006t0003 a0002c0006t0025 a0002c0006t0027 a0002c0006t0040 a0002c0008t0001 a0002c0008t0003 a0002c0016t0001 a0002c0032t0001 a0002c0033t0001 a0002c0035t0001 a0002c0036t0003 a0006c0011t0001 a0006c0014t0003 a0006c0021t0001 a0008c0019t0003 a0008c0029t0003 a0009c0013t0017 a0014c0024t0001 a0015c0041t0039 a0016c0028t0001 a0017c0044t0026 a0018c0038t0028 a0020c0025t0003 a0023c0030t0003	a0001c0001t0024g0046 a0002c0002t0001g0001 a0002c0002t0001g0037 others(70): Show a0001c0001t0024g0046 a0002c0002t0001g0001 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0059 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0197 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0222 a0002c0002t0003g0016 a0002c0002t0003g0051 a0002c0002t0003g0083 a0002c0002t0003g0084 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0127 a0002c0002t0003g0137 a0002c0002t0003g0141 a0002c0002t0026g0195 a0002c0002t0037g0166 a0002c0002t0038g0167 a0002c0006t0001g0062 a0002c0006t0001g0151 a0002c0006t0001g0163 a0002c0006t0001g0173 a0002c0006t0003g0008 a0002c0006t0003g0011 a0002c0006t0003g0073 a0002c0006t0003g0076 a0002c0006t0003g0078 a0002c0006t0003g0079 a0002c0006t0003g0092 a0002c0006t0003g0107 a0002c0006t0003g0117 a0002c0006t0003g0129 a0002c0006t0003g0131 a0002c0006t0003g0132 a0002c0006t0003g0143 a0002c0006t0025g0050 a0002c0006t0027g0142 a0002c0006t0040g0158 a0002c0008t0001g0004 a0002c0008t0003g0034 a0002c0016t0001g0028 a0002c0032t0001g0208 a0002c0033t0001g0198 a0002c0035t0001g0194 a0002c0036t0003g0105 a0006c0011t0001g0009 a0006c0011t0001g0201 a0006c0014t0003g0055 a0006c0014t0003g0085 a0006c0014t0003g0110 a0006c0021t0001g0038 a0008c0019t0003g0086 a0008c0019t0003g0087 a0008c0019t0003g0108 a0008c0029t0003g0144 a0009c0013t0017g0022 a0014c0024t0001g0066 a0015c0041t0039g0156 a0016c0028t0001g0160 a0017c0044t0026g0220 a0018c0038t0028g0140 a0020c0025t0003g0070 a0023c0030t0003g0124	159	484	0.3285	0	c.205 others(4): Show c.2059T>C	p.Ter others(11): Show p.Ter687Glnext*?	TAP2	ENSG00000204267.19	transcript	ENST00000374897.4	protein_coding	12/12	2150/5643	2059/2061	687/686		chr6	TogoVar
TAS2R10_chr12_10820219_10831358	10825513	G G	A A	stop_gained stop_gained	HIGH	HG00738.hp1 HG00738.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0000 a0007c0010t0001g0000	1	420	0.0024	0	c.757 others(3): Show c.757C>T	p.Arg others(4): Show p.Arg253*	TAS2R10	ENSG00000121318.3	transcript	ENST00000240619.3	protein_coding	1/1	846/1140	757/924	253/307		chr12	TogoVar
TBC1D19_chr4_26579084_26761223	26735441	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0002c0007 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0005 a0001c0010t0001 a0002c0007t0001 a0003c0008t0006 a0004c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0002g0019 a0001c0001t0002g0116 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0008g0148 a0001c0001t0008g0209 a0001c0002t0002g0001 a0001c0002t0002g0154 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0010g0266 a0001c0003t0001g0011 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0043 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0080 a0001c0003t0001g0099 a0001c0005t0001g0092 a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0190 a0001c0006t0001g0211 a0001c0006t0005g0147 a0001c0006t0005g0207 a0001c0006t0005g0210 a0001c0010t0001g0034 a0002c0007t0001g0163 a0002c0007t0001g0164 a0002c0007t0001g0165 a0002c0007t0001g0166 a0003c0008t0006g0114 a0003c0008t0006g0115 a0004c0009t0001g0108	273	307	0.8893	1	c.108 others(7): Show c.1085-3dupT		TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	15/20				INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D31_chr8_123067707_123157153	123142457	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01168.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp2 NA19062.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0002c0006 a0002c0025 a0008c0020	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0013t0001 a0002c0006t0001 a0002c0025t0001 a0008c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0031 a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0084 a0001c0003t0001g0120 a0001c0003t0001g0148 a0001c0003t0001g0157 a0001c0003t0001g0169 a0001c0003t0001g0172 a0001c0003t0001g0193 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0268 a0001c0003t0001g0303 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0008t0001g0042 a0001c0008t0001g0045 a0001c0008t0001g0049 a0001c0008t0001g0060 a0001c0008t0001g0238 a0001c0009t0001g0009 a0001c0009t0001g0010 a0001c0012t0001g0304 a0001c0012t0001g0305 a0001c0013t0001g0127 a0002c0006t0001g0007 a0002c0006t0001g0061 a0002c0006t0001g0064 a0002c0006t0001g0074 a0002c0006t0001g0249 a0002c0006t0001g0269 a0002c0006t0001g0316 a0002c0025t0001g0267 a0008c0020t0001g0222	89	320	0.2781	0	c.283 others(6): Show c.2835+1G>T		TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding	19/21					chr8	TogoVar
TEDC1_chr14_105486246_105504248	105497878	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00438.hp1 HG00597.hp1 others(27): Show HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01175.hp1 HG01952.hp2 HG02055.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG03098.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp1 NA18950.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp2 NA19010.hp2 NA19030.hp1 NA19054.hp1 NA19067.hp1 NA19090.hp1 NA19090.hp2	a0002 a0006 a0011 others(2): Show a0002 a0006 a0011 a0021 a0024	a0002c0003 a0002c0011 a0002c0022 others(4): Show a0002c0003 a0002c0011 a0002c0022 a0006c0010 a0011c0014 a0021c0020 a0024c0027	a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 others(8): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0008 a0002c0003t0012 a0002c0011t0002 a0002c0022t0002 a0006c0010t0001 a0011c0014t0001 a0021c0020t0002 a0024c0027t0001	a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0004 others(22): Show a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0011 a0002c0003t0001g0013 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0030 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0096 a0002c0003t0001g0119 a0002c0003t0003g0012 a0002c0003t0005g0002 a0002c0003t0008g0137 a0002c0003t0012g0101 a0002c0011t0002g0014 a0002c0011t0002g0133 a0002c0022t0002g0014 a0006c0010t0001g0006 a0011c0014t0001g0001 a0021c0020t0002g0081 a0024c0027t0001g0142	30	433	0.0693	1	c.106 others(5): Show c.1064dupG	p.Gly others(5): Show p.Gly356fs	TEDC1	ENSG00000185347.19	transcript	ENST00000392523.9	protein_coding	8/9	1195/1920	1065/1488	355/495	INFO_REALIGN_3_PRIME	chr14	TogoVar
TEX26_chr13_30927656_30980500	30956872	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18978.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp1 NA19064.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(77): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0001g0276 a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0001g0316	102	412	0.2476	0	c.313 others(5): Show c.313-1G>A		TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	3/6					chr13	TogoVar
TIGD6_chr5_149988118_150005654	149995316	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(189): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0004 a0009 others(5): Show a0001 a0004 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0017 a0004c0007 others(6): Show a0001c0001 a0001c0017 a0004c0007 a0009c0011 a0010c0020 a0011c0014 a0012c0015 a0013c0018 a0014c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0017t0001 a0004c0007t0003 a0009c0011t0003 a0010c0020t0003 a0011c0014t0003 a0012c0015t0001 a0013c0018t0001 a0014c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0002g0017 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0022 a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0014g0038 a0001c0017t0001g0039 a0004c0007t0003g0021 a0009c0011t0003g0064 a0009c0011t0003g0067 a0010c0020t0003g0050 a0011c0014t0003g0066 a0012c0015t0001g0036 a0013c0018t0001g0040 a0014c0019t0001g0041	192	434	0.4424	-1	c.103 others(5): Show c.1032delA	p.Glu others(5): Show p.Glu345fs	TIGD6	ENSG00000164296.7	transcript	ENST00000296736.4	protein_coding	2/2	1294/3493	1032/1566	344/521		chr5	TogoVar
TLR5_chr1_223104404_223148248	223111858	G G	A A	stop_gained stop_gained	HIGH	HG00738.hp2 HG01516.hp2 HG02071.hp2 others(9): Show HG00738.hp2 HG01516.hp2 HG02071.hp2 HG02976.hp1 HG03017.hp1 HG03831.hp1 NA19030.hp2 NA19043.hp2 NA19078.hp1 NA19084.hp2 NA20300.hp1 NA20905.hp2	a0004 a0004	a0004c0005 a0004c0016 a0004c0005 a0004c0016	a0004c0005t0002 a0004c0005t0003 a0004c0005t0006 others(3): Show a0004c0005t0002 a0004c0005t0003 a0004c0005t0006 a0004c0005t0018 a0004c0005t0023 a0004c0016t0002	a0004c0005t0002g0110 a0004c0005t0002g0128 a0004c0005t0003g0060 others(9): Show a0004c0005t0002g0110 a0004c0005t0002g0128 a0004c0005t0003g0060 a0004c0005t0003g0061 a0004c0005t0003g0083 a0004c0005t0006g0049 a0004c0005t0006g0050 a0004c0005t0006g0051 a0004c0005t0006g0052 a0004c0005t0018g0130 a0004c0005t0023g0084 a0004c0016t0002g0129	12	366	0.0328	0	c.117 others(4): Show c.1174C>T	p.Arg others(4): Show p.Arg392*	TLR5	ENSG00000187554.14	transcript	ENST00000642603.2	protein_coding	6/6	1781/4235	1174/2577	392/858		chr1	TogoVar
TLR8_chrX_12901620_12928169	12906707	A A	G G	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0022 a0001c0023 a0001c0024	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0007t0002 a0001c0007t0004 a0001c0007t0009 a0001c0011t0003 a0001c0014t0001 a0001c0015t0005 a0001c0016t0001 a0001c0017t0001 a0001c0018t0007 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0008g0001 a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0009 a0001c0004t0001g0063 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0007t0002g0014 a0001c0007t0002g0025 a0001c0007t0002g0028 a0001c0007t0004g0010 a0001c0007t0004g0039 a0001c0007t0009g0010 a0001c0011t0003g0019 a0001c0011t0003g0055 a0001c0011t0003g0064 a0001c0014t0001g0056 a0001c0014t0001g0057 a0001c0014t0001g0058 a0001c0015t0005g0037 a0001c0015t0005g0065 a0001c0016t0001g0027 a0001c0017t0001g0001 a0001c0018t0007g0059 a0001c0018t0007g0070 a0001c0022t0001g0071 a0001c0023t0001g0001 a0001c0024t0001g0011	165	301	0.5482	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	TLR8	ENSG00000101916.12	transcript	ENST00000218032.7	protein_coding	1/2	88/4216	1/3126	1/1041		chrX	TogoVar
TMEM216_chr11_61387587_61403846	61398269	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(172): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0002c0004 a0003c0003 a0004c0007	a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 a0001c0006t0001 a0002c0004t0001 a0003c0003t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0008g0001 a0001c0005t0001g0001 a0001c0006t0001g0001 a0002c0004t0001g0020 a0003c0003t0001g0001 a0004c0007t0001g0001	175	267	0.6554	0	c.432 others(5): Show c.432-1G>C		TMEM216	ENSG00000187049.11	transcript	ENST00000515837.7	protein_coding	4/4					chr11	TogoVar
TMEM70_chr8_73971195_73987783	73981153	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	400	0.0025	0	c.317 others(5): Show c.317-2A>G		TMEM70	ENSG00000175606.11	transcript	ENST00000312184.6	protein_coding	2/2					chr8	TogoVar
TMPRSS4_chr11_118072078_118126890	118094815	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002 a0001c0002t0006 a0001c0002t0016 a0001c0002t0020 a0001c0002t0039 a0001c0002t0041 a0001c0012t0002 a0002c0003t0005 a0005c0006t0005 a0005c0006t0044	a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0003g0026 others(116): Show a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0003g0026 a0001c0001t0003g0129 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0024 a0001c0001t0004g0174 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0187 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0007g0183 a0001c0001t0021g0181 a0001c0001t0021g0190 a0001c0001t0042g0225 a0001c0001t0043g0197 a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0038 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0093 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0146 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0175 a0001c0002t0002g0198 a0001c0002t0002g0240 a0001c0002t0002g0245 a0001c0002t0002g0342 a0001c0002t0002g0362 a0001c0002t0006g0002 a0001c0002t0006g0008 a0001c0002t0006g0009 a0001c0002t0006g0083 a0001c0002t0006g0091 a0001c0002t0006g0092 a0001c0002t0006g0112 a0001c0002t0006g0115 a0001c0002t0006g0116 a0001c0002t0006g0117 a0001c0002t0006g0131 a0001c0002t0006g0145 a0001c0002t0006g0305 a0001c0002t0016g0002 a0001c0002t0016g0114 a0001c0002t0020g0203 a0001c0002t0039g0136 a0001c0002t0041g0110 a0001c0012t0002g0113 a0001c0012t0002g0123 a0002c0003t0005g0106 a0002c0003t0005g0156 a0002c0003t0005g0162 a0005c0006t0005g0005 a0005c0006t0005g0053 a0005c0006t0005g0055 a0005c0006t0005g0071 a0005c0006t0005g0121 a0005c0006t0005g0320 a0005c0006t0044g0054	130	404	0.3218	0	c.4-1 others(3): Show c.4-1A>G		TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	1/12					chr11	TogoVar
TPSB2_chr16_1223336_1235184	1229237	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00642.hp2 HG00735.hp2 others(20): Show HG00140.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02293.hp1 HG02723.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03942.hp1 NA18522.hp1 NA20905.hp1	a0004 a0004	a0004c0004 a0004c0014 a0004c0004 a0004c0014	a0004c0004t0002 a0004c0004t0008 a0004c0014t0002 a0004c0004t0002 a0004c0004t0008 a0004c0014t0002	a0004c0004t0002g0004 a0004c0004t0002g0012 a0004c0004t0008g0034 others(1): Show a0004c0004t0002g0004 a0004c0004t0002g0012 a0004c0004t0008g0034 a0004c0014t0002g0015	23	341	0.0674	1	c.452 others(4): Show c.452dupC	p.Met others(5): Show p.Met153fs	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding	4/6	475/1165	452/828	151/275		chr16	TogoVar
TPTE_chr21_10516583_10610716	10542449	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00738.hp2 HG01516.hp2 HG00738.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	2	208	0.0096	0	c.119 others(5): Show c.119+1G>A		TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	6/23					chr21	TogoVar
TRIM51G_chr11_48970498_48988885	48978871	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0010 a0013	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003 a0005c0007 a0006c0008 a0007c0009 a0008c0017 a0010c0012 a0013c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0011t0001 a0003c0003t0001 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001 a0008c0017t0001 a0010c0012t0001 a0013c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0004g0056 a0001c0006t0003g0032 a0001c0006t0003g0046 a0001c0006t0003g0096 a0001c0006t0003g0097 a0001c0011t0001g0119 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0033 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0005c0007t0001g0108 a0005c0007t0001g0109 a0005c0007t0001g0113 a0006c0008t0001g0118 a0006c0008t0001g0124 a0007c0009t0001g0123 a0008c0017t0001g0125 a0010c0012t0001g0132 a0013c0013t0001g0129	273	422	0.6469	0	c.738 others(5): Show c.738+1G>C		TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/6					chr11	TogoVar
TRIM61_chr4_164963281_164982657	164977530	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp1 HG00738.hp2 HG01099.hp2 others(3): Show HG00323.hp1 HG00738.hp2 HG01099.hp2 HG01192.hp1 HG01361.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	6	406	0.0148	0	c.-47 others(6): Show c.-476+1G>A		TRIM61	ENSG00000183439.10	transcript	ENST00000710271.1	protein_coding	1/2					chr4	TogoVar
TRIM64B_chr11_89865438_89883487	89875640	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00558.hp1 HG00621.hp1 others(32): Show HG00140.hp2 HG00558.hp1 HG00621.hp1 HG00738.hp1 HG01070.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01516.hp1 HG01516.hp2 HG02040.hp1 HG02080.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 NA18941.hp2 NA18945.hp2 NA18949.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18982.hp2 NA18988.hp1 NA19065.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA20905.hp1	a0004 a0005 a0007 a0004 a0005 a0007	a0004c0004 a0004c0007 a0005c0005 others(4): Show a0004c0004 a0004c0007 a0005c0005 a0005c0014 a0005c0015 a0007c0012 a0007c0024	a0004c0004t0001 a0004c0004t0002 a0004c0007t0001 others(6): Show a0004c0004t0001 a0004c0004t0002 a0004c0007t0001 a0005c0005t0001 a0005c0005t0004 a0005c0014t0005 a0005c0015t0001 a0007c0012t0001 a0007c0024t0001	a0004c0004t0001g0011 a0004c0004t0001g0024 a0004c0004t0001g0056 others(19): Show a0004c0004t0001g0011 a0004c0004t0001g0024 a0004c0004t0001g0056 a0004c0004t0001g0057 a0004c0004t0001g0078 a0004c0004t0001g0079 a0004c0004t0001g0081 a0004c0004t0002g0077 a0004c0004t0002g0083 a0004c0007t0001g0023 a0004c0007t0001g0074 a0004c0007t0001g0076 a0005c0005t0001g0008 a0005c0005t0001g0028 a0005c0005t0001g0029 a0005c0005t0001g0030 a0005c0005t0001g0036 a0005c0005t0004g0035 a0005c0014t0005g0075 a0005c0015t0001g0072 a0007c0012t0001g0022 a0007c0024t0001g0073	35	208	0.1683	-1	c.377 others(4): Show c.377delG	p.Ser others(5): Show p.Ser126fs	TRIM64B	ENSG00000189253.8	transcript	ENST00000329862.7	protein_coding	2/7	497/1653	377/1350	126/449		chr11	TogoVar
TSPAN10_chr17_81632196_81653749	81647906	T T	TTAAC TTAAC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(30): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG03225.hp1 HG03453.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA19240.hp1	a0004 a0007 a0004 a0007	a0004c0005 a0004c0011 a0004c0012 others(1): Show a0004c0005 a0004c0011 a0004c0012 a0007c0007	a0004c0005t0003 a0004c0011t0003 a0004c0012t0003 others(1): Show a0004c0005t0003 a0004c0011t0003 a0004c0012t0003 a0007c0007t0003	a0004c0005t0003g0002 a0004c0005t0003g0118 a0004c0005t0003g0119 others(5): Show a0004c0005t0003g0002 a0004c0005t0003g0118 a0004c0005t0003g0119 a0004c0005t0003g0121 a0004c0011t0003g0002 a0004c0012t0003g0120 a0007c0007t0003g0002 a0007c0007t0003g0122	33	408	0.0809	4	c.682 others(11): Show c.682_685dupAACT	p.Cys others(5): Show p.Cys229fs	TSPAN10	ENSG00000182612.11	transcript	ENST00000611590.2	protein_coding	4/4	1003/1840	686/1068	229/355	INFO_REALIGN_3_PRIME	chr17	TogoVar
TUBA3C_chr13_19168772_19186824	19173949	C C	A A	stop_gained stop_gained	HIGH	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	446	0.0022	0	c.126 others(4): Show c.1267G>T	p.Glu others(4): Show p.Glu423*	TUBA3C	ENSG00000198033.13	transcript	ENST00000400113.8	protein_coding	5/5	1344/1521	1267/1353	423/450		chr13	TogoVar
TUBA3E_chr2_130186745_130203439	130197356	ACACACCT others(2467): Show ACACACCTGTAGTACCAGCTACTCGGAAGGCTGAGGCGGGAGGACTGCTG GAAGCCAGGGGTTCAAGGCTGCAGGGAGCCGTGATCTTGCAACTGTGTTC CAGCCTGGGCAACAGAGCATTTATTGAGTGCTGTCTCAAAAAAAAAAAAA AAAGAAAAGAAAAGAAAAAAGAAAAAGAAAGGAAAAAAAGGATAACTGAC AAATCACAGCTATTCAGACTTGGGACTTGGGAATCTGTTATGTTAATGGG CTGCTTTTTTTGTTTGGTTTTTTGAGGCAGGGTCTCTGTGGCCCAGGCTG GAGTGCACTGGCGCCATCACGACTCACTGCAGCCTCAAAGTTCCAGGCTC GGCTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGAACCACAGACTCGC ATCACCATGCCCGGGTAATTTTAGTATTTTTTTGTAGAGACTGGGTTTCG CCATGTTGGTCGGGCTGATCTTGAACTCCAGACATCAGGGGATCCGCCCG CCTCCACCTCCCCAAGGGCTGGGATTCCAGGCGTGAGCCGCCGCGCCTGG CCTAACGGTTGCCTTTAGGTGAACAAGGCAATGTTGCAGCAGCGTCTGAG CCTTAATTCCTCATCTGACCAATGTCCACAGCCCCAACCCCCGTCACCGA AGGCTCCTGCAGCTCCTCAGCTGTTTCCAGTAGCACAAAGACGTGTGAAG CGGGAGCAGCGCCCTCCTGTCTTCAGGAGGCGACGCCACTATTTGCTCTC TGGGGGACGGGATACCGTCAATGGTCCCCGTCCACTAAAGGCCGGCAGCT TCATCTAAAACAAAAGCCGCCGTCCCTGCCCTGGGACCTGCAGATCCAGG AAACGATCCCGTGTCCTCCTGTCCCGCACTAGACCCTGCGTCCTTCTCTG GCCTCCTCTCAGCGCCCAGGCCCGCAACAACGTCCCTCTGTCCACCCGAG GCCAACTTCGTCTGCCTGGGCATCTGCGGGGCGGGAGTGACCCGGGTCTT ACCATGGCGAACTCCGCTGCTTCAGCCCAACGCTACTTCCAGACCTCAAC CGGCTGCCACAGCTGCTGAGCGCCCAACTGCAATGACCTGCCCACGCGCG CCGCACAGGATTGGCCTGCCGGTGCCAGGCCGCCATTGGCTCGGAGTTCC TGGGAGGCAGGCCGAGGGCCGGATCCCAGTTCTGATTGGCCGTTGCTCAA CACGTGTAGTGGGGATGCTCTCTGATTGGATGCAGGATTGGCGGGAAGGC AGCGGGGTCATCAAAGGCTGCGCGGTTGCTGAGGCATTTCCGGGGTGTCT TCCGACCAGGATTGGAACAGCTACTGCGCTGCCTCTGTGGGTCGCGGAAC ATTGCCTTGCTCCCAGTGTGCCACTGCCCCTCCCTGATTGCCCCAGGCCT GCTCCTCTCCCTGCCTAATTCAGATCTTTGCAAACAAGGCCACCTCTGAG AGGCCTTGCCGCCATCTACCCAAGTCACAGCAGCACCGCAATTATCCCCC TCTTCCCTGTTCCCACCCAGCACCCGGGAAGTGGCAGGATTCAATCACTT TTCTGACCCAAAGGGAGAAAACGGGCCGGGCGCGATGGCTAACGCCTGCA ATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAAGAG TTCCCGAGACCAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAA CACAAAAATTACCCTGGCTGGTGGTAGGCACCTGTAATCCCAGCTACACG GGAGGCTGAGGTAGGAGAATCGCTTGAAACTGGGAGGCAGTTGTTGCAGT GAGCCGAGATTGGGCCACAGCACACTCCAGCCTGGGCAACAGAGCCAGAC TCTGTCTCAAAAAAAAAAGGAAGAAAGGAGGCAAAATTAACGTAAGTGGA GAGGTTGGGCCAGGCACACCAGCTCATGCCTGTAATTCCAGTGCTTTGGG AGGCCACGGCAGGAGGATTGCTTCAGGTCAGGAGTTCGAGACCAGCCTGG GCAACGTGGTGAGTCCCACCTTGCCCGTTTCTACAAAAAATAAAATTAGC AAGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATCCCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCA CGCCACTGCACTCAAGCCTGGGTGACAGAGCAAAACTCCATCTTGAAAAA AAAAATAGTTTATTTGGGCCAAGTTTGAGAAGTGCAACCCTGGAGATGCA AGTTGTCTTAAAATATTAGCAGCAGTTATAAGTGGGTTTTTAAAGGAAAA GAAGAGGCAGTTCCTAAGTTGTTTACCAAGAATTTGAAATTAGAGAAGTC TTGCTGTGTTGTCCAGGCTAGTCTTGAACTCCTGACCTGAAGGGATCCTC CTACCTCGGCTGGCCTAGCCTGAGGAATTTATATTAAAATAACGTAAGCT ATTTATTGGGCCAGGCGTGGTGGCT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 others(14): Show a0001c0002 a0001c0005 a0001c0011 a0001c0013 a0001c0015 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042	a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 others(14): Show a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 a0001c0013t0002 a0001c0015t0002 a0001c0031t0002 a0001c0032t0002 a0001c0033t0002 a0001c0034t0002 a0001c0035t0002 a0001c0036t0002 a0001c0037t0002 a0001c0038t0002 a0001c0039t0002 a0001c0040t0002 a0001c0041t0002 a0001c0042t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0016 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0005t0002g0005 a0001c0005t0002g0018 a0001c0005t0002g0036 a0001c0011t0002g0015 a0001c0013t0002g0026 a0001c0013t0002g0043 a0001c0015t0002g0028 a0001c0031t0002g0037 a0001c0032t0002g0038 a0001c0033t0002g0041 a0001c0034t0002g0042 a0001c0035t0002g0044 a0001c0036t0002g0046 a0001c0037t0002g0047 a0001c0038t0002g0049 a0001c0039t0002g0050 a0001c0040t0002g0051 a0001c0041t0002g0052 a0001c0042t0002g0053	177	426	0.4155	-2474	c.-14 others(11): Show c.-1470_4-986del		TUBA3E	ENSG00000152086.9	transcript	ENST00000312988.9	protein_coding	1/5					chr2	TogoVar
TYW1B_chr7_72569513_72833200	72728896	C C	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp2 others(117): Show HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18985.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0010 a0012	a0001c0001 a0001c0007 a0001c0018 others(11): Show a0001c0001 a0001c0007 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0022 a0007c0012 a0010c0013 a0012c0015	a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 others(11): Show a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0022t0001 a0007c0012t0001 a0010c0013t0004 a0012c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(117): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0022t0001g0182 a0007c0012t0001g0166 a0007c0012t0001g0167 a0010c0013t0004g0001 a0012c0015t0001g0008	120	284	0.4225	0	c.111 others(4): Show c.1118G>A	p.Trp others(4): Show p.Trp373*	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	9/14	1243/3117	1118/2007	373/668		chr7	TogoVar
TYW1B_chr7_72569513_72833200	72744551	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(208): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0007 a0008 a0010 a0012	a0001c0001 a0001c0002 a0001c0006 others(18): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0008 a0005c0022 a0005c0023 a0006c0009 a0007c0012 a0008c0011 a0010c0013 a0012c0015	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(19): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0008t0001 a0005c0008t0006 a0005c0022t0001 a0005c0023t0007 a0006c0009t0001 a0007c0012t0001 a0008c0011t0001 a0010c0013t0004 a0012c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(208): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0282 a0001c0006t0001g0141 a0001c0006t0001g0185 a0001c0006t0001g0191 a0001c0006t0001g0192 a0001c0006t0001g0193 a0001c0006t0001g0196 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 a0001c0006t0001g0203 a0001c0006t0001g0204 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0014t0001g0184 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0008t0001g0009 a0005c0008t0001g0011 a0005c0008t0001g0180 a0005c0008t0001g0181 a0005c0008t0001g0183 a0005c0008t0006g0010 a0005c0022t0001g0182 a0005c0023t0007g0178 a0006c0009t0001g0200 a0006c0009t0001g0201 a0006c0009t0001g0202 a0006c0009t0001g0281 a0007c0012t0001g0166 a0007c0012t0001g0167 a0008c0011t0001g0275 a0008c0011t0001g0276 a0010c0013t0004g0001 a0012c0015t0001g0008	211	284	0.7430	1	c.101 others(5): Show c.1014dupT	p.Glu others(5): Show p.Glu339fs	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	8/14	1139/3117	1014/2007	338/668		chr7	TogoVar
UNC13C_chr15_53973441_54633605	54338354	T T	TTGTC TTGTC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00738.hp1 HG01192.hp2 others(42): Show HG00099.hp2 HG00738.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG01884.hp2 HG01978.hp1 HG02132.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18953.hp1 NA18964.hp1 NA19030.hp1 NA19064.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0014	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0001c0021 a0001c0029 a0001c0032 a0001c0033 a0001c0034 a0001c0041 a0002c0015 a0002c0016 a0004c0026 a0005c0027 a0014c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0032 a0001c0001t0037 a0001c0001t0041 a0001c0001t0057 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0020 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0051 a0001c0003t0039 a0001c0003t0042 a0001c0003t0053 a0001c0005t0003 a0001c0012t0017 a0001c0021t0013 a0001c0029t0046 a0001c0032t0004 a0001c0033t0033 a0001c0034t0058 a0001c0041t0025 a0002c0015t0012 a0002c0016t0004 a0004c0026t0001 a0005c0027t0008 a0014c0030t0014	a0001c0001t0001g0044 a0001c0001t0002g0102 a0001c0001t0007g0016 others(42): Show a0001c0001t0001g0044 a0001c0001t0002g0102 a0001c0001t0007g0016 a0001c0001t0014g0083 a0001c0001t0017g0136 a0001c0001t0032g0099 a0001c0001t0037g0158 a0001c0001t0041g0118 a0001c0001t0057g0145 a0001c0001t0059g0147 a0001c0002t0001g0034 a0001c0002t0001g0040 a0001c0002t0002g0063 a0001c0002t0002g0082 a0001c0002t0006g0112 a0001c0002t0009g0133 a0001c0002t0009g0134 a0001c0002t0010g0007 a0001c0002t0013g0153 a0001c0002t0020g0020 a0001c0002t0022g0092 a0001c0002t0023g0098 a0001c0002t0024g0116 a0001c0002t0051g0157 a0001c0003t0039g0101 a0001c0003t0042g0107 a0001c0003t0053g0058 a0001c0005t0003g0066 a0001c0005t0003g0068 a0001c0005t0003g0097 a0001c0012t0017g0109 a0001c0012t0017g0117 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0029t0046g0143 a0001c0032t0004g0056 a0001c0033t0033g0093 a0001c0034t0058g0149 a0001c0041t0025g0156 a0002c0015t0012g0047 a0002c0015t0012g0054 a0002c0016t0004g0055 a0004c0026t0001g0022 a0005c0027t0008g0073 a0014c0030t0014g0084	45	156	0.2885	4	c.458 others(17): Show c.4585-6_4585-3dupTGTC		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	16/32				INFO_REALIGN_3_PRIME	chr15	TogoVar
UNKL_chr16_1358205_1419704	1397263	TCCCCGTG others(254): Show TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTG TCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCACCCCCGTGCTTCA CGCTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACA GAGGACTTGGCTCCCTGCCCCCCACCCCCGTGCTTCACGCTGGGGCAGGG CGTGGACCTGGGGATGAGGAGGTGTCAGGAGGACACAGAGGACTTGGCTC CCCCACCCCGAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(38): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00733.hp2 HG00738.hp1 HG01071.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG02004.hp1 HG02109.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp1 NA18980.hp2 NA18983.hp1 NA19007.hp1 NA19064.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0009 others(2): Show a0002c0002 a0002c0006 a0002c0009 a0002c0014 a0002c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0011 a0002c0002t0016 a0002c0002t0031 a0002c0002t0033 a0002c0002t0048 a0002c0002t0057 a0002c0002t0062 a0002c0006t0003 a0002c0006t0020 a0002c0006t0051 a0002c0009t0001 a0002c0014t0063 a0002c0018t0008	a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 others(38): Show a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0052 a0002c0002t0001g0071 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0199 a0002c0002t0002g0024 a0002c0002t0002g0041 a0002c0002t0003g0042 a0002c0002t0008g0066 a0002c0002t0008g0085 a0002c0002t0011g0026 a0002c0002t0016g0152 a0002c0002t0031g0091 a0002c0002t0031g0200 a0002c0002t0033g0050 a0002c0002t0048g0067 a0002c0002t0057g0153 a0002c0002t0062g0086 a0002c0006t0003g0108 a0002c0006t0003g0112 a0002c0006t0003g0114 a0002c0006t0020g0072 a0002c0006t0051g0109 a0002c0009t0001g0176 a0002c0009t0001g0260 a0002c0014t0063g0003 a0002c0018t0008g0243	41	299	0.1371	-261	c.735 others(11): Show c.735-229_766del	p.Ser others(5): Show p.Ser246fs	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	6/15	779/5250	735/2202	245/733		chr16	TogoVar

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