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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PYGO1_chr15_55533884_55593345	55568320	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03540.hp2 HG02572.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0098 a0001c0001t0011g0018 a0001c0001t0002g0098 a0001c0001t0011g0018	2	412	0.0049	20	c.50- others(37): Show c.50-19345_50-19326dupCACACACACACACACACACA	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp2 others(67): Show HG00423.hp1 HG00544.hp1 HG00621.hp2 HG01106.hp2 HG01257.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02523.hp1 HG02572.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG02976.hp2 HG03209.hp2 HG03225.hp2 HG03491.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18999.hp2 NA19006.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0029 a0001c0001t0038 a0001c0001t0046 a0001c0001t0054 a0001c0001t0055 a0001c0001t0063 a0001c0001t0066 a0001c0001t0072 a0001c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0001t0001g0056 others(66): Show a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0265 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0364 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0002g0058 a0001c0001t0002g0098 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0269 a0001c0001t0004g0339 a0001c0001t0013g0253 a0001c0001t0014g0252 a0001c0001t0015g0055 a0001c0001t0015g0266 a0001c0001t0016g0119 a0001c0001t0020g0072 a0001c0001t0020g0073 a0001c0001t0020g0074 a0001c0001t0029g0131 a0001c0001t0038g0394 a0001c0001t0046g0352 a0001c0001t0054g0300 a0001c0001t0055g0125 a0001c0001t0063g0273 a0001c0001t0066g0127 a0001c0001t0072g0176 a0001c0003t0001g0302	70	412	0.1699	20	c.49+ others(37): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYROXD1_chr12_21432655_21476250	21467974	T T	TTATCTTA others(13): Show TTATCTTATTCAGTCCTCTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02055.hp1 HG02559.hp1 others(8): Show HG00741.hp1 HG02055.hp1 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0022 a0001c0001t0008 a0001c0001t0022	a0001c0001t0008g0005 a0001c0001t0022g0145 a0001c0001t0008g0005 a0001c0001t0022g0145	11	416	0.0264	20	c.125 others(37): Show c.1254+357_1254+376dupTATCTTATTCAGTCCTCTTC	PYROXD1	ENSG00000121350.16	transcript	ENST00000240651.14	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYROXD2_chr10_98378568_98420182	98386323	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG01361.hp2 others(31): Show HG00733.hp2 HG01123.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG02004.hp2 HG02145.hp1 HG02145.hp2 HG02273.hp1 HG02280.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02965.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03831.hp1 NA18964.hp1 NA18969.hp2 NA18977.hp1 NA18983.hp1 NA18986.hp1 NA19057.hp1 NA19060.hp1 NA19077.hp1 NA19082.hp1 NA19083.hp2 NA20300.hp2 NA20752.hp1	a0001 a0011 a0012 a0001 a0011 a0012	a0001c0001 a0001c0004 a0001c0011 others(2): Show a0001c0001 a0001c0004 a0001c0011 a0011c0014 a0012c0019	a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 a0011c0014t0001 a0012c0019t0001	a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0252 others(25): Show a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0004t0001g0015 a0001c0004t0001g0028 a0001c0004t0001g0096 a0001c0004t0001g0104 a0001c0004t0001g0106 a0001c0004t0001g0108 a0001c0004t0001g0119 a0001c0004t0001g0165 a0001c0004t0001g0168 a0001c0004t0001g0172 a0001c0011t0001g0103 a0011c0014t0001g0077 a0012c0019t0001g0286	34	418	0.0813	20	c.155 others(37): Show c.1554+877_1554+878insTCCTTCCTTCCTTCCTTCCT	PYROXD2	ENSG00000119943.13	transcript	ENST00000370575.5	protein_coding	14/15			chr10	TogoVar
PYY_chr17_43947733_43958940	43956581	G G	GGGGGGGG others(13): Show GGGGGGGGGACAGAATCAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02970.hp1 HG02451.hp1 HG02486.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	364	0.0082	20	c.-27 others(31): Show c.-2733_-2732insTTTTGATTCTGTCCCCCCCC	PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding		2642		chr17	TogoVar
PYY_chr17_43947733_43958940	43958135	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02965.hp2 HG02080.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0002c0002t0001g0001 a0001c0001t0001g0003 a0002c0002t0001g0001	2	364	0.0055	20	c.-43 others(31): Show c.-4306_-4287dupTTTTTTTTTTTTTTTTTTTT	PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding		4196		chr17	TogoVar
PZP_chr12_9143840_9213395	9182132	G G	GAGTGAGA others(13): Show GAGTGAGACAAAATGGTCATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(233): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18953.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0034 a0035 a0036	a0001c0001 a0001c0055 a0001c0058 others(42): Show a0001c0001 a0001c0055 a0001c0058 a0002c0002 a0002c0065 a0003c0003 a0003c0022 a0003c0041 a0005c0008 a0005c0019 a0006c0007 a0006c0029 a0006c0035 a0007c0005 a0007c0056 a0008c0023 a0008c0039 a0009c0006 a0010c0009 a0010c0054 a0011c0066 a0013c0011 a0014c0016 a0015c0018 a0016c0017 a0017c0015 a0018c0030 a0018c0045 a0019c0032 a0019c0033 a0020c0034 a0022c0028 a0023c0053 a0024c0040 a0025c0063 a0026c0064 a0027c0051 a0028c0048 a0029c0049 a0030c0061 a0031c0060 a0032c0050 a0034c0062 a0035c0052 a0036c0047	a0001c0001t0001 a0001c0055t0001 a0001c0058t0001 others(42): Show a0001c0001t0001 a0001c0055t0001 a0001c0058t0001 a0002c0002t0001 a0002c0065t0001 a0003c0003t0001 a0003c0022t0001 a0003c0041t0001 a0005c0008t0001 a0005c0019t0001 a0006c0007t0001 a0006c0029t0001 a0006c0035t0001 a0007c0005t0001 a0007c0056t0001 a0008c0023t0001 a0008c0039t0001 a0009c0006t0001 a0010c0009t0001 a0010c0054t0001 a0011c0066t0001 a0013c0011t0001 a0014c0016t0001 a0015c0018t0001 a0016c0017t0001 a0017c0015t0001 a0018c0030t0001 a0018c0045t0001 a0019c0032t0001 a0019c0033t0001 a0020c0034t0001 a0022c0028t0001 a0023c0053t0001 a0024c0040t0001 a0025c0063t0001 a0026c0064t0001 a0027c0051t0001 a0028c0048t0001 a0029c0049t0001 a0030c0061t0001 a0031c0060t0001 a0032c0050t0001 a0034c0062t0001 a0035c0052t0001 a0036c0047t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(194): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0227 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0055t0001g0214 a0001c0058t0001g0201 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0094 a0002c0002t0001g0117 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0172 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0226 a0002c0002t0001g0228 a0002c0065t0001g0138 a0003c0003t0001g0002 a0003c0003t0001g0019 a0003c0003t0001g0042 a0003c0003t0001g0054 a0003c0003t0001g0058 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0160 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0205 a0003c0003t0001g0266 a0003c0022t0001g0121 a0003c0022t0001g0236 a0003c0022t0001g0239 a0003c0041t0001g0088 a0005c0008t0001g0022 a0005c0008t0001g0023 a0005c0008t0001g0132 a0005c0008t0001g0173 a0005c0008t0001g0176 a0005c0008t0001g0177 a0005c0008t0001g0181 a0005c0008t0001g0182 a0005c0008t0001g0190 a0005c0008t0001g0191 a0005c0008t0001g0216 a0005c0019t0001g0047 a0005c0019t0001g0174 a0005c0019t0001g0175 a0005c0019t0001g0180 a0006c0007t0001g0052 a0006c0007t0001g0118 a0006c0007t0001g0252 a0006c0007t0001g0256 a0006c0029t0001g0057 a0006c0029t0001g0098 a0006c0035t0001g0041 a0007c0005t0001g0018 a0007c0005t0001g0071 a0007c0005t0001g0072 a0007c0005t0001g0122 a0007c0005t0001g0124 a0007c0056t0001g0208 a0008c0023t0001g0016 a0008c0039t0001g0069 a0009c0006t0001g0006 a0009c0006t0001g0014 a0009c0006t0001g0015 a0009c0006t0001g0068 a0009c0006t0001g0070 a0009c0006t0001g0079 a0009c0006t0001g0080 a0009c0006t0001g0084 a0009c0006t0001g0087 a0009c0006t0001g0220 a0010c0009t0001g0037 a0010c0009t0001g0101 a0010c0054t0001g0221 a0011c0066t0001g0209 a0013c0011t0001g0055 a0013c0011t0001g0063 a0013c0011t0001g0086 a0013c0011t0001g0238 a0013c0011t0001g0280 a0013c0011t0001g0281 a0014c0016t0001g0149 a0015c0018t0001g0127 a0015c0018t0001g0166 a0015c0018t0001g0169 a0015c0018t0001g0170 a0016c0017t0001g0025 a0016c0017t0001g0026 a0016c0017t0001g0219 a0017c0015t0001g0128 a0017c0015t0001g0129 a0017c0015t0001g0133 a0017c0015t0001g0143 a0017c0015t0001g0179 a0018c0030t0001g0024 a0018c0045t0001g0061 a0019c0032t0001g0161 a0019c0032t0001g0167 a0019c0033t0001g0045 a0019c0033t0001g0048 a0020c0034t0001g0134 a0020c0034t0001g0150 a0022c0028t0001g0194 a0022c0028t0001g0204 a0023c0053t0001g0195 a0024c0040t0001g0051 a0025c0063t0001g0148 a0026c0064t0001g0171 a0027c0051t0001g0207 a0028c0048t0001g0267 a0029c0049t0001g0099 a0030c0061t0001g0142 a0031c0060t0001g0178 a0032c0050t0001g0168 a0034c0062t0001g0218 a0035c0052t0001g0106 a0036c0047t0001g0065	236	334	0.7066	20	c.154 others(35): Show c.1547-35_1547-16dupTATGACCATTTTGTCTCACT	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	13/35			chr12	TogoVar
PZP_chr12_9143840_9213395	9185790	A A	ATTTCTTT others(13): Show ATTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(54): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00738.hp2 HG01081.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02135.hp1 HG02280.hp2 HG02293.hp1 HG02572.hp1 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp1 NA18906.hp2 NA18943.hp1 NA18960.hp2 NA18963.hp1 NA18967.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp2 NA18993.hp2 NA19004.hp1 NA19011.hp2 NA19054.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(15): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0014 a0015 a0016 a0017 a0019 a0020 a0025 a0030 a0034	a0001c0001 a0001c0021 a0002c0002 others(17): Show a0001c0001 a0001c0021 a0002c0002 a0004c0004 a0005c0019 a0006c0029 a0007c0005 a0008c0012 a0008c0043 a0011c0010 a0012c0024 a0014c0016 a0015c0018 a0016c0017 a0017c0015 a0019c0033 a0020c0034 a0025c0063 a0030c0061 a0034c0062	a0001c0001t0001 a0001c0021t0001 a0002c0002t0001 others(17): Show a0001c0001t0001 a0001c0021t0001 a0002c0002t0001 a0004c0004t0001 a0005c0019t0001 a0006c0029t0001 a0007c0005t0001 a0008c0012t0001 a0008c0043t0001 a0011c0010t0001 a0012c0024t0001 a0014c0016t0001 a0015c0018t0001 a0016c0017t0001 a0017c0015t0001 a0019c0033t0001 a0020c0034t0001 a0025c0063t0001 a0030c0061t0001 a0034c0062t0001	a0001c0001t0001g0073 a0001c0021t0001g0193 a0002c0002t0001g0003 others(48): Show a0001c0001t0001g0073 a0001c0021t0001g0193 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0094 a0002c0002t0001g0131 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0188 a0002c0002t0001g0215 a0002c0002t0001g0226 a0002c0002t0001g0228 a0004c0004t0001g0234 a0005c0019t0001g0180 a0006c0029t0001g0098 a0007c0005t0001g0072 a0008c0012t0001g0264 a0008c0043t0001g0272 a0011c0010t0001g0035 a0011c0010t0001g0107 a0011c0010t0001g0108 a0011c0010t0001g0109 a0011c0010t0001g0110 a0012c0024t0001g0251 a0014c0016t0001g0149 a0014c0016t0001g0156 a0015c0018t0001g0166 a0015c0018t0001g0170 a0016c0017t0001g0025 a0016c0017t0001g0219 a0017c0015t0001g0128 a0017c0015t0001g0143 a0017c0015t0001g0179 a0019c0033t0001g0045 a0019c0033t0001g0048 a0020c0034t0001g0134 a0020c0034t0001g0150 a0025c0063t0001g0148 a0030c0061t0001g0142 a0034c0062t0001g0218	57	334	0.1707	20	c.154 others(39): Show c.1547-3693_1547-3674dupAGAAAAGAAAAGAAAAGAAA	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	13/35			chr12	TogoVar
QARS1_chr3_49090932_49109757	49096798	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA19080.hp1 NA18963.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	284	0.0070	20	c.227 others(37): Show c.2278-739_2278-720dupTTTTTTTTTTTTTTTTTTTT	QARS1	ENSG00000172053.18	transcript	ENST00000306125.12	protein_coding	23/23			chr3	TogoVar
QNG1_chr9_83933311_83961742	83944028	C C	CAAACAAA others(13): Show CAAACAAACAAACAAACAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02280.hp1 others(11): Show HG02055.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02723.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03486.hp2 HG03516.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0009 a0001c0001t0026 a0002c0002t0005 others(2): Show a0001c0001t0009 a0001c0001t0026 a0002c0002t0005 a0004c0003t0005 a0004c0003t0025	a0001c0001t0009g0034 a0001c0001t0009g0035 a0001c0001t0009g0114 others(6): Show a0001c0001t0009g0034 a0001c0001t0009g0035 a0001c0001t0009g0114 a0001c0001t0026g0112 a0002c0002t0005g0012 a0002c0002t0005g0113 a0004c0003t0005g0134 a0004c0003t0005g0135 a0004c0003t0025g0133	14	394	0.0355	20	c.793 others(35): Show c.793+765_793+766insTTTTGTTTGTTTGTTTGTTT	QNG1	ENSG00000165118.15	transcript	ENST00000376344.8	protein_coding	3/3			chr9	TogoVar
QNG1_chr9_83933311_83961742	83956955	A A	ATGCCCCC others(13): Show ATGCCCCCACCCCGCTCGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	394	0.0025	20	c.-45 others(29): Show c.-456_-455insCCTCGAGCGGGGTGGGGGCA	QNG1	ENSG00000165118.15	transcript	ENST00000376344.8	protein_coding		214		chr9	TogoVar
QPCT_chr2_37339630_37378322	37347235	T T	TATATAAC others(13): Show TATATAACATATATATATAAC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18973.hp1 NA18979.hp2 others(4): Show NA18953.hp2 NA18973.hp1 NA18979.hp2 NA18985.hp1 NA18994.hp2 NA19060.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0136 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0136 a0001c0001t0001g0178 a0001c0001t0001g0220	7	442	0.0158	20	c.120 others(37): Show c.120+2389_120+2390insACATATATATATAACATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37358438	C C	CAACAAAA others(13): Show CAACAAAACAAAACAAAACAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03942.hp1 NA19240.hp1 HG02559.hp2 HG03942.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0001 a0001c0003t0002 a0004c0005t0001 a0001c0003t0001 a0001c0003t0002 a0004c0005t0001	a0001c0003t0001g0142 a0001c0003t0002g0166 a0004c0005t0001g0137 a0001c0003t0001g0142 a0001c0003t0002g0166 a0004c0005t0001g0137	3	442	0.0068	20	c.268 others(37): Show c.268-1135_268-1116dupACAAAACAAAACAAAACAAA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QPCT_chr2_37339630_37378322	37374583	A A	AATGTCCT others(13): Show AATGTCCTTCCAAAGTCATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG01175.hp2 others(16): Show HG01074.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG02109.hp2 HG02486.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG03942.hp1 HG04199.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0004c0005t0001	a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0192 others(16): Show a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0192 a0001c0001t0001g0228 a0001c0001t0001g0243 a0001c0001t0001g0333 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0003t0001g0142 a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0159 a0001c0003t0002g0166 a0001c0003t0002g0234 a0001c0003t0002g0235 a0004c0005t0001g0270	19	442	0.0430	20	c.17 others(31): Show c.1756_*1757insATGTCCTTCCAAAGTCATGC	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding		1262		chr2	TogoVar
QRFPR_chr4_121323642_121386018	121323977	C C	CATATATA others(13): Show CATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0241 a0001c0001t0009g0241	1	384	0.0026	20	c.53 others(31): Show c.5336_*5337insATATATATATATATATATAT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding		4664		chr4	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG04184.hp2 NA18979.hp2 others(1): Show HG02273.hp1 HG04184.hp2 NA18979.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0002 a0001c0003 a0001c0007 a0002c0002	a0001c0003t0005 a0001c0007t0018 a0002c0002t0001 a0001c0003t0005 a0001c0007t0018 a0002c0002t0001	a0001c0003t0005g0147 a0001c0007t0018g0150 a0002c0002t0001g0148 others(1): Show a0001c0003t0005g0147 a0001c0007t0018g0150 a0002c0002t0001g0148 a0002c0002t0001g0149	4	384	0.0104	20	c.340 others(35): Show c.340+102_340+121dupTCTCTCTCTCTCTCTCTCTC	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(13): Show GGAGAGAGAGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp1 HG01358.hp1 others(4): Show HG01074.hp1 HG01192.hp1 HG01358.hp1 HG01517.hp1 HG04199.hp1 NA18949.hp1 NA19003.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0015 a0008c0014 a0001c0001 a0001c0015 a0008c0014	a0001c0001t0002 a0001c0015t0003 a0008c0014t0002 a0001c0001t0002 a0001c0015t0003 a0008c0014t0002	a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 others(4): Show a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0015t0003g0310 a0008c0014t0002g0311	7	384	0.0182	20	c.340 others(35): Show c.340+121_340+122insTCTCTCTCTCCCTCTCTCTC	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
QRFPR_chr4_121323642_121386018	121380211	G G	GAGAGAGA others(13): Show GAGAGAGAGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0002 a0011c0017t0002	a0011c0017t0002g0336 a0011c0017t0002g0336	1	384	0.0026	20	c.340 others(33): Show c.340+96_340+97insTCTCTCTCTCTCCTCTCTCT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
QRICH1_chr3_49024707_49099071	49096798	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA19080.hp2 NA18963.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	226	0.0089	20	c.-29 others(31): Show c.-2928_-2909dupTTTTTTTTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding		2728		chr3	TogoVar
QRICH2_chr17_76269049_76313276	76287043	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01261.hp2 HG02258.hp2 others(3): Show HG00280.hp1 HG01261.hp2 HG02258.hp2 HG04199.hp2 NA18943.hp1 NA19055.hp1	a0001 a0003 a0020 others(1): Show a0001 a0003 a0020 a0029	a0001c0005 a0003c0003 a0020c0038 others(1): Show a0001c0005 a0003c0003 a0020c0038 a0029c0030	a0001c0005t0001 a0003c0003t0001 a0020c0038t0001 others(1): Show a0001c0005t0001 a0003c0003t0001 a0020c0038t0001 a0029c0030t0001	a0001c0005t0001g0196 a0001c0005t0001g0197 a0001c0005t0001g0214 others(3): Show a0001c0005t0001g0196 a0001c0005t0001g0197 a0001c0005t0001g0214 a0003c0003t0001g0209 a0020c0038t0001g0163 a0029c0030t0001g0172	6	364	0.0165	20	c.401 others(37): Show c.4011+129_4011+148dupGTGTGTGTGTGTGTGTGTGT	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18			chr17	TogoVar
QSER1_chr11_32887811_32985270	32964717	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0230 a0001c0002t0004g0230	1	236	0.0042	20	c.497 others(39): Show c.4970-1579_4970-1560dupTATATATATATATATATATA	QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
QSER1_chr11_32887811_32985270	32965944	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02735.hp2 HG01993.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0134 a0001c0001t0001g0152	2	236	0.0085	20	c.497 others(37): Show c.4970-333_4970-314dupACACACACACACACACACAC	QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
QTRT2_chr3_114051737_114093422	114060496	G G	GTAGGTAG others(13): Show GTAGGTAGGTAGGTAGATAGA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	430	0.0023	20	c.-22 others(37): Show c.-22+3393_-22+3394insGTAGGTAGGTAGATAGATAG	QTRT2	ENSG00000151576.10	transcript	ENST00000281273.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
R3HCC1L_chr10_98129657_98249897	98183958	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0233 a0006c0007t0003g0233	1	388	0.0026	20	c.-15 others(39): Show c.-15+20576_-15+20577insTTTTTTTTTTTTTTTTTTTT	R3HCC1L	ENSG00000166024.14	transcript	ENST00000298999.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
R3HDM1_chr2_135526484_135730269	135537608	C C	CTTATTTT others(13): Show CTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	232	0.0043	20	c.-25 others(39): Show c.-250+6024_-250+6043dupTTTTATTTTATTTTATTTTA	R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM1_chr2_135526484_135730269	135626205	G G	GTGTGTGC others(13): Show GTGTGTGCTTGCTTGCTTGCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG03130.hp2 others(3): Show HG02257.hp2 HG02809.hp1 HG03130.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0017 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0066 a0003c0003t0001g0015 a0003c0003t0001g0016	6	232	0.0259	20	c.497 others(37): Show c.497+3475_497+3476insTGTGCTTGCTTGCTTGCTTG	R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM1_chr2_135526484_135730269	135626209	G G	GTGTGTGC others(13): Show GTGTGTGCTTGCTTGCTTGCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp2 HG01928.hp1 others(25): Show HG00741.hp1 HG01256.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG02132.hp1 HG03490.hp2 HG03688.hp2 HG03704.hp1 NA18939.hp2 NA18947.hp2 NA18952.hp2 NA18959.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18972.hp2 NA18979.hp2 NA18982.hp2 NA18990.hp1 NA19004.hp2 NA19007.hp2 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp1 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0003c0003t0001 a0001c0001t0001 a0001c0001t0007 a0003c0003t0001	a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 others(25): Show a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0007g0019 a0003c0003t0001g0021 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0033 a0003c0003t0001g0036 a0003c0003t0001g0048 a0003c0003t0001g0054 a0003c0003t0001g0059 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204	28	232	0.1207	20	c.497 others(37): Show c.497+3479_497+3480insTGTGCTTGCTTGCTTGCTTG	R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM1_chr2_135526484_135730269	135699075	T T	TTAGATAG others(13): Show TTAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01978.hp1 HG01993.hp2 others(25): Show HG00621.hp1 HG01978.hp1 HG01993.hp2 HG02056.hp2 HG02132.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02630.hp2 HG02965.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03491.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18941.hp1 NA18979.hp1 NA18982.hp1 NA19030.hp2 NA19078.hp1 NA19082.hp1 NA19088.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006 a0007c0007	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003 a0005c0006t0003 a0007c0007t0001	a0001c0001t0001g0017 a0001c0001t0001g0213 a0001c0001t0001g0230 others(25): Show a0001c0001t0001g0017 a0001c0001t0001g0213 a0001c0001t0001g0230 a0002c0002t0001g0009 a0002c0002t0001g0056 a0002c0002t0001g0101 a0002c0002t0001g0135 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0159 a0002c0002t0001g0166 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0182 a0002c0002t0001g0187 a0003c0003t0001g0015 a0003c0003t0001g0021 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0003g0030 a0003c0003t0003g0040 a0005c0006t0003g0043 a0007c0007t0001g0180	28	232	0.1207	20	c.246 others(41): Show c.2460-10348_2460-10329dupAGATAGATAGATAGATAGAT	R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02630.hp1 HG02698.hp1 others(10): Show HG02523.hp2 HG02630.hp1 HG02698.hp1 HG03041.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18947.hp2 NA18961.hp2 NA18967.hp2 NA18970.hp1 NA19062.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0003c0007	a0001c0001t0001 a0001c0002t0002 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0003c0004t0001 a0003c0007t0002	a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 others(10): Show a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0245 a0001c0001t0001g0283 a0001c0002t0002g0089 a0001c0002t0002g0115 a0003c0004t0001g0220 a0003c0007t0002g0090	13	336	0.0387	20	c.213 others(39): Show c.2132-1224_2132-1205dupTTTTTTTTTTTTTTTTTTTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57377078	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp2 HG01169.hp1 others(14): Show HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp2 HG01978.hp1 HG02602.hp1 HG02615.hp1 HG02717.hp2 HG02922.hp1 HG03209.hp2 HG03491.hp1 NA18956.hp2 NA18957.hp2 NA18968.hp1 NA18986.hp2 NA19240.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 a0001c0005t0004 a0006c0013t0003	a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0199 others(14): Show a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0314 a0001c0001t0002g0237 a0001c0002t0002g0095 a0001c0002t0002g0129 a0001c0002t0005g0332 a0001c0002t0005g0334 a0001c0005t0004g0142 a0006c0013t0003g0271	17	336	0.0506	20	c.-36 others(39): Show c.-36+18651_-36+18670dupTTTATTTATTTATTTATTTA	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23			chr12	TogoVar
R3HDM4_chr19_891503_918219	906809	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	432	0.0023	20	c.72- others(35): Show c.72-4699_72-4680dupCAAAACAAAACAAAACAAAA	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding	1/7			chr19	TogoVar
R3HDML_chr20_44332043_44356238	44345829	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0178 a0002c0005t0002g0178	1	434	0.0023	20	c.629 others(35): Show c.629+454_629+455insCTTTCTTTTTTTTTTTTTTT	R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
R3HDML_chr20_44332043_44356238	44345829	C C	CTTTCTTT others(13): Show CTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG02572.hp2 others(2): Show HG00140.hp1 HG00738.hp1 HG02572.hp2 HG02965.hp2 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0002 a0002c0003t0003 a0002c0005t0002 a0002c0003t0002 a0002c0003t0003 a0002c0005t0002	a0002c0003t0002g0182 a0002c0003t0003g0046 a0002c0005t0002g0177 others(1): Show a0002c0003t0002g0182 a0002c0003t0003g0046 a0002c0005t0002g0177 a0002c0005t0002g0183	5	434	0.0115	20	c.629 others(35): Show c.629+454_629+455insCTTTTTTTTTTTTTTTTTTT	R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
R3HDML_chr20_44332043_44356238	44348482	C C	CTCCTTTC others(13): Show CTCCTTTCCTTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03017.hp1 NA19012.hp1 HG02818.hp2 HG03017.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0118	3	434	0.0069	20	c.630 others(37): Show c.630-2160_630-2141dupCTTTCCTTTCCTTTCCTTTC	R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
R3HDML_chr20_44332043_44356238	44349146	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp2 HG02965.hp2 HG02257.hp1 HG02809.hp2 HG02965.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0182 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0182 a0002c0003t0002g0184 a0002c0003t0002g0185	3	434	0.0069	20	c.630 others(37): Show c.630-1490_630-1471dupTAAAATAAAATAAAATAAAA	R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
R3HDML_chr20_44332043_44356238	44350489	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02630.hp1 others(5): Show HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0071 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0001g0190 a0001c0004t0001g0201 a0001c0004t0001g0202	8	434	0.0184	20	c.630 others(35): Show c.630-167_630-148dupTAAATAAATAAATAAATAAA	R3HDML	ENSG00000101074.5	transcript	ENST00000217043.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB10_chr2_26029084_26142454	26057620	T T	TTTCATTC others(13): Show TTTCATTCATTCATTCATTCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG01891.hp1 others(6): Show HG01123.hp1 HG01243.hp2 HG01891.hp1 HG02970.hp2 HG03471.hp1 HG03516.hp1 HG06807.hp1 NA18994.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0023 a0001c0001t0001g0092 a0001c0001t0001g0148 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0092 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0002g0119 a0001c0001t0014g0002	9	212	0.0425	20	c.127 others(39): Show c.127+22886_127+22905dupTTCATTCATTCATTCATTCA	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895259	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	264	0.0038	20	c.371 others(37): Show c.371+3811_371+3812insAAAAAATATATATATATATA	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895259	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0220 a0004c0003t0001g0220	1	264	0.0038	20	c.371 others(37): Show c.371+3811_371+3812insAAAAAAAAAATATATATATA	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB11FIP3_chr16_420649_528011	467921	C C	CGTTGGAG others(13): Show CGTTGGAGGAGGTGCAGGGAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0122 a0001c0001t0015g0122	1	295	0.0034	20	c.809 others(37): Show c.809-3372_809-3371insTGGAGGAGGTGCAGGGAAGT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	476832	T T	TGTAATCC others(13): Show TGTAATCCCAGCACTTTGGGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	295	0.0034	20	c.903 others(37): Show c.903+5445_903+5464dupTAATCCCAGCACTTTGGGAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	480286	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp2 HG01891.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0024 a0001c0001t0015 a0001c0001t0024	a0001c0001t0015g0123 a0001c0001t0024g0185 a0001c0001t0015g0123 a0001c0001t0024g0185	2	295	0.0068	20	c.904 others(37): Show c.904-2238_904-2219dupAAAAAAAAAAAAAAAAAAAA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504394	C C	CCCCCCTC others(13): Show CCCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19004.hp2 NA19012.hp2 others(1): Show NA18967.hp2 NA19004.hp2 NA19012.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0051 a0001c0001t0008 a0001c0001t0011 a0001c0001t0051	a0001c0001t0008g0063 a0001c0001t0008g0068 a0001c0001t0011g0179 others(1): Show a0001c0001t0008g0063 a0001c0001t0008g0068 a0001c0001t0011g0179 a0001c0001t0051g0064	4	295	0.0136	20	c.139 others(39): Show c.1396-1118_1396-1117insCTCCTGTACCCCCTCACCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504574	A A	ACCTCCTG others(13): Show ACCTCCTGTACCCCCTCACCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02145.hp2 HG02622.hp2 others(4): Show HG01261.hp2 HG02145.hp2 HG02622.hp2 NA18947.hp2 NA18975.hp1 NA19077.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0018 a0001c0002 a0002c0018	a0001c0002t0009 a0001c0002t0026 a0002c0018t0009 a0001c0002t0009 a0001c0002t0026 a0002c0018t0009	a0001c0002t0009g0081 a0001c0002t0009g0254 a0001c0002t0009g0269 others(4): Show a0001c0002t0009g0081 a0001c0002t0009g0254 a0001c0002t0009g0269 a0001c0002t0009g0274 a0001c0002t0009g0275 a0001c0002t0026g0170 a0002c0018t0009g0092	7	295	0.0237	20	c.139 others(37): Show c.1396-935_1396-916dupTCACCTCCTCCTGTACCCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP4_chr17_31386675_31543211	31467099	C C	CTTTCTTT others(13): Show CTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp2 HG02451.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0003 a0001c0018t0015 a0001c0001t0003 a0001c0018t0015	a0001c0001t0003g0050 a0001c0018t0015g0014 a0001c0001t0003g0050 a0001c0018t0015g0014	2	310	0.0065	20	c.336 others(39): Show c.336+32986_336+33005dupCTTTTCTTTTCTTTTCTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB12_chr18_8604437_8644383	8639147	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0168 a0001c0001t0062g0168	1	404	0.0025	20	c.91 others(29): Show c.911_*930dupTTTTTTTTTTTTTTTTTTTT	RAB12	ENSG00000206418.5	transcript	ENST00000649141.2	protein_coding	6/6	931	INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB15_chr14_64940816_64977336	64973893	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03471.hp1 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0018 a0001c0002t0005g0018	2	382	0.0052	20	c.-18 others(31): Show c.-1818_-1817insTTTTTTTTTTTTTTTTTTTT	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding		1558		chr14	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02723.hp1 NA19009.hp1 others(1): Show HG01978.hp1 HG02723.hp1 NA19009.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0054 a0001c0001t0007g0058 others(1): Show a0001c0001t0007g0007 a0001c0001t0007g0054 a0001c0001t0007g0058 a0001c0001t0007g0232	4	410	0.0098	20	c.84 others(31): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar
RAB1A_chr2_65081854_65135106	65129687	A A	ACCCCTCC others(13): Show ACCCCTCCGGCCCGACCCCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02257.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0011 a0001c0001t0002g0012	2	340	0.0059	20	c.23+ others(33): Show c.23+186_23+205dupGAGGGGTCGGGCCGGAGGGG	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB20_chr13_110518066_110566722	110519253	T T	TGTGCAGG others(13): Show TGTGCAGGGTCTCTGCTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02257.hp1 HG01074.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0094 a0001c0002t0003g0370 a0001c0002t0003g0094 a0001c0002t0003g0370	2	426	0.0047	20	c.44 others(31): Show c.4411_*4412insGCACAGCAGAGACCCTGCAC	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding		3812		chr13	TogoVar

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