Joint Open Genome and Omics Platform (JoGo)

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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
ANKRD36_chr2_97108153_97269521	97268672	GGGCTGAC others(96): Show GGGCTGACAGAGATCTGAATTCTCCCTGGCACGTAGTTCTCAAGGTCCCG CCCAATGAGTGTCCTTTTAGCTGGGGTCTCCAGCCAATCCCACTGGTGTT CTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	210	0.0048	-103	c.43 others(11): Show c.4351_*4453del	ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding		4152		chr2	TogoVar
ASAP1_chr8_130047104_130448674	130049454	GGGGGGCA others(96): Show GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAG AGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAAC ACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0235 a0002c0002t0011g0235	1	305	0.0033	-103	c.51 others(11): Show c.5174_*5276del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2649		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049818	AGAACACA others(96): Show AGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACAT GGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAG AGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	272	0.0037	-103	c.48 others(11): Show c.4810_*4912del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2285		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049839	GAATACAT others(96): Show GAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACAT GGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAG AGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01934.hp1 HG01361.hp1 HG01934.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0002 a0002c0002t0003 a0001c0004t0002 a0002c0002t0003	a0001c0004t0002g0189 a0002c0002t0003g0055 a0001c0004t0002g0189 a0002c0002t0003g0055	2	306	0.0065	-103	c.47 others(11): Show c.4789_*4891del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2264		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049863	CACATGGG others(96): Show CACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAG GGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGG GAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 NA18962.hp1 HG03710.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0024 a0002c0002t0003 a0001c0001t0024 a0002c0002t0003	a0001c0001t0024g0209 a0002c0002t0003g0106 a0001c0001t0024g0209 a0002c0002t0003g0106	2	304	0.0066	-103	c.47 others(11): Show c.4765_*4867del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2240		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049880	GGAACACA others(96): Show GGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACAT GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAG AGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG02080.hp1 others(3): Show HG01243.hp1 HG01261.hp2 HG02080.hp1 HG02109.hp1 HG02630.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0013 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0013 a0002c0002t0003 a0002c0003t0001	a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0228 others(3): Show a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0013g0308 a0002c0002t0003g0127 a0002c0003t0001g0025	6	234	0.0256	-103	c.47 others(11): Show c.4748_*4850del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2223		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049946	CACATGGG others(96): Show CACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGG GGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGG GAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	302	0.0033	-103	c.46 others(11): Show c.4682_*4784del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2157		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049963	GAATACAT others(96): Show GAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACAT GGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAG AGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	305	0.0033	-103	c.46 others(11): Show c.4665_*4767del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2140		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050178	TGGGGGCA others(96): Show TGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCA GAGGAGAACACATGGGGGGCAGAGGGGAACACGGGGGGAAGAGGGGAACA CATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01175.hp1 HG01934.hp1 others(11): Show HG01168.hp1 HG01175.hp1 HG01934.hp1 HG01993.hp2 HG02056.hp2 HG02080.hp1 HG02897.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 NA18960.hp1 NA18963.hp1 NA19007.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0004t0002 a0002c0002t0003	a0001c0001t0001g0255 a0001c0001t0002g0027 a0001c0001t0002g0168 others(11): Show a0001c0001t0001g0255 a0001c0001t0002g0027 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0229 a0001c0001t0024g0209 a0001c0004t0002g0151 a0001c0004t0002g0157 a0001c0004t0002g0181 a0001c0004t0002g0184 a0001c0004t0002g0189 a0002c0002t0003g0127	14	253	0.0553	-103	c.44 others(11): Show c.4450_*4552del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1925		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050190	GGAATACA others(96): Show GGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACA TGGGGGGCAGAGGGGAACACGGGGGGAAGAGGGGAACACATGGGGGGCAG AGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	272	0.0037	-103	c.44 others(11): Show c.4438_*4540del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1913		chr8	TogoVar
ASTN2_chr9_116418112_117420057	117405955	AGAAGAGG others(96): Show AGAAGAGGGAAGGCTCTGTGGGATGGATAGTGTTTAGGCTCACTCTTAAC AGGGTAGTGCAAATTCAGCCCATCTCAAGTTTTGTCTACTGTGGATTCTG GGAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	100	0.0100	-103	c.442 others(17): Show c.442+8439_442+8541del	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22			chr9	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145180	GAGAAAGA others(96): Show GAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA AGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(99): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03579.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0007c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(96): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0250 a0001c0001t0001g0310 a0001c0001t0001g0322 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0006g0121 a0007c0008t0001g0059	102	348	0.2931	-103	c.639 others(17): Show c.639+2244_639+2346del	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLNK_chr10_96184171_96276569	96232282	CTTTTCTA others(96): Show CTTTTCTAGTTTTATTTTTATGTTTTTGCTATTCCCCGCTGAGTAGCCAC TGCCACAGAGGACCCAGTGGATGTTCCTAAATTTCCCAGAACCTCAACAG AACA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00735.hp2 others(53): Show HG00280.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01516.hp2 HG01952.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03098.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18995.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19067.hp2 NA19088.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0030 a0001c0001t0043 a0001c0002t0001	a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0080 others(49): Show a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0159 a0001c0001t0001g0176 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0297 a0001c0001t0002g0002 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0163 a0001c0001t0002g0179 a0001c0001t0002g0206 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0158 a0001c0001t0003g0193 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0270 a0001c0001t0005g0096 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0011g0175 a0001c0001t0013g0180 a0001c0001t0016g0003 a0001c0001t0018g0243 a0001c0001t0030g0298 a0001c0001t0043g0085 a0001c0002t0001g0265	56	320	0.1750	-103	c.164 others(17): Show c.164-1551_164-1449del	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	3/16			chr10	TogoVar
BPIFB4_chr20_33074643_33116751	33093545	CCCATCCT others(96): Show CCCATCCTTCCATCAACCCATCCATCTATCCAGCCATCCACCTATCCACT CACCCACCCACCCATCCACCATCAACCCATCCATCCATCTACTCATCAAC CCGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp2 others(85): Show HG00280.hp1 HG00280.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02148.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG03098.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19010.hp2 NA19012.hp2 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0018 a0019	a0001c0013 a0002c0002 a0002c0009 others(3): Show a0001c0013 a0002c0002 a0002c0009 a0003c0012 a0018c0014 a0019c0015	a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 others(4): Show a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0009t0001 a0003c0012t0001 a0018c0014t0001 a0019c0015t0001	a0001c0013t0001g0227 a0001c0013t0001g0232 a0002c0002t0001g0003 others(63): Show a0001c0013t0001g0227 a0001c0013t0001g0232 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0002g0025 a0002c0009t0001g0024 a0002c0009t0001g0099 a0002c0009t0001g0100 a0003c0012t0001g0072 a0003c0012t0001g0138 a0018c0014t0001g0119 a0019c0015t0001g0086	88	342	0.2573	-103	c.134 others(17): Show c.1344+894_1344+996del	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BRWD3_chrX_80664503_80814877	80726170	ATATGTCT others(96): Show ATATGTCTGTATAACATATAACACGTTTACATGTTATATGTCTGTATAAC ATATAACACGTTTACATGTTATATGTCTGTATAACATATAACACGTTTAC ATGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0201 a0001c0001t0088g0201	1	263	0.0038	-103	c.138 others(19): Show c.1387-1206_1387-1104del	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	14/40			chrX	TogoVar
CACNA1C_chr12_2047987_2702950	2407255	CACATCGT others(96): Show CACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCATGAC CCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCA GTGG	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0021 a0001c0002t0001g0022	2	95	0.0211	-103	c.478 others(19): Show c.478-41682_478-41580del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407294	CTCATCAT others(96): Show CTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG02523.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0009 a0001c0003 a0001c0005 a0002c0009	a0001c0003t0044 a0001c0005t0002 a0002c0009t0012 a0001c0003t0044 a0001c0005t0002 a0002c0009t0012	a0001c0003t0044g0053 a0001c0005t0002g0098 a0002c0009t0012g0066 others(1): Show a0001c0003t0044g0053 a0001c0005t0002g0098 a0002c0009t0012g0066 a0002c0009t0012g0067	4	98	0.0408	-103	c.478 others(19): Show c.478-41579_478-41477del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407397	TTCATCAT others(96): Show TTCATCATGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTG ATAAGTGTGCAGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGG AGCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18906.hp1 NA20300.hp1 HG02965.hp2 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 a0001c0001t0001 a0001c0001t0003 a0001c0001t0028	a0001c0001t0001g0034 a0001c0001t0003g0068 a0001c0001t0028g0081 a0001c0001t0001g0034 a0001c0001t0003g0068 a0001c0001t0028g0081	3	73	0.0411	-103	c.478 others(19): Show c.478-41416_478-41314del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407560	AGTGGACA others(96): Show AGTGGACATCGTCTCCACCGACACCATGTGGGTACTGGGGAGCCTCATCA TGACCCAGTGGGAAGGAACGTCCTTTTGATAATAGCCGTCCTGATAAGTG TGCG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0002 a0001c0007t0005g0002	1	81	0.0123	-103	c.478 others(19): Show c.478-41398_478-41296del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407578	CGACACCA others(96): Show CGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAGGAA CGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTC CACT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02257.hp1 HG02886.hp2 others(6): Show HG01993.hp2 HG02257.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG04115.hp1 HG04115.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0014 a0001c0022 a0001c0032	a0001c0001t0015 a0001c0002t0001 a0001c0002t0029 others(6): Show a0001c0001t0015 a0001c0002t0001 a0001c0002t0029 a0001c0003t0005 a0001c0004t0010 a0001c0006t0003 a0001c0014t0032 a0001c0022t0014 a0001c0032t0031	a0001c0001t0015g0016 a0001c0002t0001g0092 a0001c0002t0029g0031 others(6): Show a0001c0001t0015g0016 a0001c0002t0001g0092 a0001c0002t0029g0031 a0001c0003t0005g0036 a0001c0004t0010g0025 a0001c0006t0003g0074 a0001c0014t0032g0023 a0001c0022t0014g0050 a0001c0032t0031g0103	9	98	0.0918	-103	c.478 others(19): Show c.478-41348_478-41246del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2407628	CGTCCTTT others(96): Show CGTCCTTTTGATAATAGCCGTCCTGATAAGTGTGCGGTGGACATCGTCTC CACTGACACCATGTGGGTACTGGGGAGCCTCATCATGACCCAGTGGGAAG GAAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0011 a0003c0027t0011	a0003c0027t0011g0012 a0003c0027t0011g0012	1	103	0.0097	-103	c.478 others(19): Show c.478-41313_478-41211del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1178170	TCTCCCGC others(96): Show TCTCCCGCCCCCTCTCCATGGGGCACCTCATGGTCCCTCCCGGCTCTGCC TGGGATCCCCCAACGGGCTCTCCTGCCCCGGCTCCTTGGATCCCTCCATG GTCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0050 a0050	a0050c0128 a0050c0128	a0050c0128t0037 a0050c0128t0037	a0050c0128t0037g0013 a0050c0128t0037g0013	1	336	0.0030	-103	c.300 others(19): Show c.300-16787_300-16685del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317610	GAAAGAAA others(96): Show GAAAGAAAGAAAGAAAGACAGACAGAAAGAAAGAAAAGAAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01070.hp2 others(5): Show HG00323.hp2 HG00738.hp1 HG01070.hp2 HG01515.hp2 HG01928.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0161 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0161 a0001c0001t0001g0184 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0331 a0001c0001t0006g0138	8	360	0.0222	-103	c.212 others(19): Show c.212-29112_212-29010del	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN12_chr19_38725192_38749474	38735922	CGGGGCGG others(96): Show CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGCAGGGGTTCTGGGGGCGGGGCAGGTCAGGTCTCGGGGGTC TCGG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03710.hp2 HG02735.hp2 HG03710.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0008 a0004c0008t0008 a0001c0001t0008 a0004c0008t0008	a0001c0001t0008g0247 a0004c0008t0008g0246 a0001c0001t0008g0247 a0004c0008t0008g0246	2	333	0.0060	-103	c.158 others(16): Show c.1583+85_1583+187del	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CCDC77_chr12_396644_447642	415308	ATTATGTT others(96): Show ATTATGTTAATATAATCAACATAATATTATGTTAATATAATCAACATAAT ATTATGTTAATATAATCAACATAATATTATGTTAATATAATCAACATAAT ATGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0384 a0001c0001t0004g0384	1	430	0.0023	-103	c.271 others(17): Show c.271-3184_271-3082del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDH4_chr20_61247261_61945617	61675721	TAGGGCTG others(96): Show TAGGGCTGAGGCTTTGGGCTCAGCCAAGCACTCCCGTGGAAACAACCATC GCAGGGGCTGAGGCTTTGGGCTCAGCCAAGCACTCCCGTGGAAACAACCA TCGC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0017 a0001c0007t0009g0017	1	106	0.0094	-103	c.170 others(19): Show c.170-67837_170-67735del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPVL3_chrX_51612020_51623912	51621587	CTTCTTCT others(96): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	296	0.0034	-103	c.-28 others(11): Show c.-2817_-2715del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2676		chrX	TogoVar
CEP170B_chr14_104860268_104901747	104884690	CGGGGGGT others(96): Show CGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACCGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGG AACG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG01069.hp1 others(20): Show HG00140.hp2 HG00438.hp1 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG01981.hp2 HG02293.hp1 HG02300.hp2 HG02698.hp2 HG02735.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp1 NA18982.hp2 NA19058.hp2 NA19064.hp2 NA19089.hp2	a0001 a0012 a0029 a0001 a0012 a0029	a0001c0002 a0001c0006 a0001c0035 others(4): Show a0001c0002 a0001c0006 a0001c0035 a0001c0037 a0001c0038 a0012c0036 a0029c0033	a0001c0002t0002 a0001c0006t0005 a0001c0006t0007 others(5): Show a0001c0002t0002 a0001c0006t0005 a0001c0006t0007 a0001c0035t0013 a0001c0037t0005 a0001c0038t0005 a0012c0036t0007 a0029c0033t0009	a0001c0002t0002g0004 a0001c0002t0002g0191 a0001c0002t0002g0210 others(15): Show a0001c0002t0002g0004 a0001c0002t0002g0191 a0001c0002t0002g0210 a0001c0002t0002g0215 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0006t0005g0028 a0001c0006t0005g0043 a0001c0006t0005g0076 a0001c0006t0005g0146 a0001c0006t0005g0147 a0001c0006t0005g0256 a0001c0006t0007g0029 a0001c0035t0013g0150 a0001c0037t0005g0149 a0001c0038t0005g0168 a0012c0036t0007g0151 a0029c0033t0009g0028	23	324	0.0710	-103	c.177 others(17): Show c.1770+193_1770+295del	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CLN8_chr8_1758789_1791570	1763541	CCCCCCGC others(96): Show CCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCC GCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGC CCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG06807.hp2 NA18943.hp2 HG02615.hp1 HG06807.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011	3	412	0.0073	-103	c.-46 others(9): Show c.-467_-365del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		247		chr8	TogoVar
CNN1_chr19_11533851_11555323	11547083	GGGGAGCA others(96): Show GGGGAGCAGGTGCTGTCAACAGCGTCCAAGGGGGCCGGGCGCGGTCGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGAGCGGATTGCTTGA GGCC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	390	0.0026	-103	c.390 others(15): Show c.390+120_390+222del	CNN1	ENSG00000130176.8	transcript	ENST00000252456.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPNE7_chr16_89570758_89602246	89598547	AGGCAGAG others(96): Show AGGCAGAGGGTGCGTGTCAGGGCCCTGTGCAGGTGTGGGGGGGTCTCAGG CTGGACAGAGGGTGAGTATCCGGGCCTTGTGCAGATCGGAGGTCTCAGGG GCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(98): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01978.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02486.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03492.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp2 HG04228.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp2 NA18964.hp1 NA18970.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0002 a0001c0015 others(6): Show a0001c0001 a0001c0002 a0001c0015 a0001c0025 a0002c0003 a0002c0017 a0003c0006 a0004c0011 a0010c0016	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0015t0001 a0001c0025t0001 a0002c0003t0003 a0002c0003t0007 a0002c0017t0003 a0003c0006t0003 a0004c0011t0001 a0010c0016t0003	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0067 others(94): Show a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0168 a0001c0001t0001g0192 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0272 a0001c0001t0001g0286 a0001c0001t0001g0326 a0001c0001t0001g0333 a0001c0002t0001g0323 a0001c0002t0003g0022 a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0054 a0001c0002t0003g0080 a0001c0002t0003g0148 a0001c0002t0003g0173 a0001c0002t0003g0177 a0001c0002t0003g0188 a0001c0002t0003g0201 a0001c0002t0003g0220 a0001c0002t0003g0225 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0253 a0001c0002t0003g0266 a0001c0002t0003g0282 a0001c0002t0003g0298 a0001c0002t0005g0287 a0001c0002t0007g0007 a0001c0002t0010g0210 a0001c0002t0013g0189 a0001c0015t0001g0322 a0001c0025t0001g0193 a0002c0003t0003g0004 a0002c0003t0003g0077 a0002c0003t0003g0113 a0002c0003t0003g0116 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0003g0128 a0002c0003t0003g0129 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0134 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0143 a0002c0003t0003g0144 a0002c0003t0003g0166 a0002c0003t0003g0222 a0002c0003t0007g0290 a0002c0017t0003g0142 a0003c0006t0003g0005 a0003c0006t0003g0149 a0003c0006t0003g0150 a0003c0006t0003g0151 a0003c0006t0003g0152 a0003c0006t0003g0164 a0003c0006t0003g0226 a0003c0006t0003g0227 a0003c0006t0003g0228 a0003c0006t0003g0260 a0003c0006t0003g0267 a0003c0006t0003g0268 a0003c0006t0003g0334 a0004c0011t0001g0081 a0004c0011t0001g0106 a0010c0016t0003g0114	101	340	0.2971	-103	c.19 others(11): Show c.1927_*2029del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1302		chr16	TogoVar
CSF1R_chr5_150048295_150091554	150084364	AAAGAAAG others(96): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGA AAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(130): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG04199.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18973.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19080.hp1 NA19080.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0021 a0001c0028 a0002c0003 a0002c0008 a0002c0013 a0003c0014 a0003c0015 a0005c0011 a0006c0012 a0007c0025 a0007c0026 a0007c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0004t0014 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0001c0006t0011 a0001c0010t0001 a0001c0021t0001 a0001c0028t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0023 a0002c0008t0001 a0002c0013t0001 a0003c0014t0013 a0003c0015t0003 a0005c0011t0006 a0006c0012t0002 a0007c0025t0003 a0007c0026t0006 a0007c0027t0006	a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0042 others(118): Show a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0003g0064 a0001c0001t0004g0056 a0001c0001t0005g0062 a0001c0001t0005g0087 a0001c0001t0005g0094 a0001c0001t0005g0362 a0001c0001t0005g0363 a0001c0001t0005g0372 a0001c0001t0005g0383 a0001c0001t0005g0384 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0057 a0001c0001t0006g0090 a0001c0001t0007g0101 a0001c0001t0008g0043 a0001c0001t0008g0046 a0001c0001t0009g0227 a0001c0001t0009g0229 a0001c0001t0009g0230 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0364 a0001c0001t0009g0365 a0001c0001t0009g0366 a0001c0001t0009g0367 a0001c0001t0009g0369 a0001c0001t0014g0097 a0001c0001t0024g0075 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0040 a0001c0002t0001g0099 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0002g0100 a0001c0004t0001g0071 a0001c0004t0003g0037 a0001c0004t0006g0370 a0001c0004t0014g0018 a0001c0005t0001g0028 a0001c0005t0001g0063 a0001c0005t0001g0080 a0001c0005t0001g0105 a0001c0006t0001g0358 a0001c0006t0002g0041 a0001c0006t0003g0233 a0001c0006t0004g0088 a0001c0006t0011g0021 a0001c0010t0001g0039 a0001c0021t0001g0068 a0001c0028t0002g0103 a0002c0003t0001g0006 a0002c0003t0001g0024 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0081 a0002c0003t0001g0096 a0002c0003t0001g0368 a0002c0003t0002g0079 a0002c0003t0005g0228 a0002c0003t0023g0078 a0002c0008t0001g0017 a0002c0008t0001g0027 a0002c0008t0001g0234 a0002c0008t0001g0359 a0002c0008t0001g0373 a0002c0013t0001g0023 a0003c0014t0013g0089 a0003c0014t0013g0095 a0003c0015t0003g0093 a0005c0011t0006g0226 a0006c0012t0002g0045 a0007c0025t0003g0091 a0007c0026t0006g0092 a0007c0027t0006g0371	133	404	0.3292	-103	c.49+ others(15): Show c.49+1912_49+2014del	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CST9L_chr20_23559732_23573484	23560991	CCTTCCTT others(96): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	386	0.0052	-103	c.38 others(11): Show c.3854_*3956del	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3740		chr20	TogoVar
CST9L_chr20_23559732_23573484	23560995	CCTTCCTT others(96): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT CTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03669.hp2 HG03710.hp1 others(5): Show HG02257.hp1 HG03669.hp2 HG03710.hp1 NA18990.hp2 NA18999.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0057 a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0057	8	380	0.0211	-103	c.38 others(11): Show c.3850_*3952del	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3736		chr20	TogoVar
CST9L_chr20_23559732_23573484	23560999	CCTTCCTT others(96): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01074.hp2 HG01256.hp2 others(10): Show HG00673.hp2 HG01074.hp2 HG01256.hp2 HG01515.hp2 HG01975.hp2 HG02280.hp2 HG02895.hp2 NA18943.hp2 NA18948.hp1 NA18960.hp2 NA18980.hp2 NA19055.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	13	373	0.0349	-103	c.38 others(11): Show c.3846_*3948del	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3732		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561003	CCTTCCTT others(96): Show CCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTT CTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	351	0.0028	-103	c.38 others(11): Show c.3842_*3944del	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3728		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561011	CCTTCCTT others(96): Show CCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCTTTCTTT CTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	385	0.0026	-103	c.38 others(11): Show c.3834_*3936del	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3720		chr20	TogoVar
DACH2_chrX_86143451_86837602	86795818	GGAGTGTT others(96): Show GGAGTGTTACAGCTCTTAAAGTTGGTGCGTCTGGAGTTGTTTGTTCCTCC CGGTGGGTTCGTGGTCTTGCTGACTTCAGGAGTGAAGCCACAGACCTTTT CAGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01255.hp1 others(14): Show HG00642.hp1 HG00738.hp1 HG01255.hp1 HG02559.hp2 HG02615.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03688.hp1 HG03942.hp1 HG04228.hp1 NA18522.hp1 NA18939.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134	17	166	0.1024	-103	c.124 others(21): Show c.1241-17023_1241-16921del	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(96): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCG GGAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01981.hp1 HG04204.hp1 others(2): Show HG00438.hp1 HG01981.hp1 HG04204.hp1 NA18966.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0136 a0001c0002t0002g0145 others(2): Show a0001c0002t0002g0126 a0001c0002t0002g0136 a0001c0002t0002g0145 a0001c0002t0002g0160 a0001c0002t0002g0172	5	287	0.0174	-103	c.121 others(17): Show c.1218+315_1218+417del	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DDX51_chr12_132131594_132149319	132135758	CCGGTGCC others(96): Show CCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	295	0.0034	-103	c.34 others(11): Show c.3411_*3513del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		835		chr12	TogoVar
DENND1C_chr19_6462207_6486787	6479289	GTCCTTGA others(96): Show GTCCTTGAATCCCTAAGTCCCTGGGTTCCTCAGTCCCTGAGTCCCTGAGT CCCTGAGTCCCTGGTCCCTGAGTTTCTGAGTCTCTGGGTTCCGAAGTCCC TGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02559.hp2 others(6): Show HG02145.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02970.hp1 HG03098.hp1 HG03453.hp2 HG03579.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0011 a0001c0002 a0007c0011	a0001c0002t0001 a0007c0011t0001 a0001c0002t0001 a0007c0011t0001	a0001c0002t0001g0027 a0001c0002t0001g0067 a0001c0002t0001g0178 others(5): Show a0001c0002t0001g0027 a0001c0002t0001g0067 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0272 a0001c0002t0001g0277 a0007c0011t0001g0141 a0007c0011t0001g0289	9	418	0.0215	-103	c.176 others(15): Show c.176+277_177-234del	DENND1C	ENSG00000205744.10	transcript	ENST00000381480.7	protein_coding	4/22			chr19	TogoVar
DOK7_chr4_3458306_3499482	3491190	TGCTCATT others(96): Show TGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTC ATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCC CCCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02258.hp2 HG02976.hp1 others(1): Show HG01167.hp1 HG02258.hp2 HG02976.hp1 NA19030.hp1	a0008 a0009 a0008 a0009	a0008c0008 a0009c0017 a0008c0008 a0009c0017	a0008c0008t0010 a0009c0017t0010 a0008c0008t0010 a0009c0017t0010	a0008c0008t0010g0124 a0008c0008t0010g0312 a0008c0008t0010g0355 others(1): Show a0008c0008t0010g0124 a0008c0008t0010g0312 a0008c0008t0010g0355 a0009c0017t0010g0256	4	402	0.0100	-103	c.772 others(17): Show c.772+1395_773-1466del	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6			chr4	TogoVar
DPP6_chr7_154047398_154899285	154749592	GAGAGAGG others(96): Show GAGAGAGGGATGGAGGCTTTACTGTGAGAGTGTGAGGAAGCATAGGACGG GAAAGAGAGGGATGGGGCATTACTGAGAGAGGATGAGAGAGCATAGGATG GGAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0030 a0002c0002t0022g0030	1	38	0.0263	-103	c.884 others(19): Show c.884-19801_884-19699del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
ENOSF1_chr18_665318_717630	666920	GAGATGGT others(96): Show GAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGT GATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGA TGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0129 a0001c0001t0030g0129	1	353	0.0028	-103	c.72 others(11): Show c.7282_*7384del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3397		chr18	TogoVar
ETNPPL_chr4_108737053_108768053	108747151	ATATATAT others(96): Show ATATATATATATATTATATATATATATATAATATATATATATATTATATA TATATATAATATATATATATATATTATATATATATATATAATATATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG06807.hp1 HG00408.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0080 a0002c0002t0002g0041 a0002c0002t0002g0080	2	369	0.0054	-103	c.108 others(17): Show c.1083-403_1083-301del	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
F7_chr13_113100791_113125685	113108262	CGTGGGTG others(96): Show CGTGGGTGTCCCGGGGGTTGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGA GGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGG GAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(83): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01243.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp1 NA18747.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0009t0001 a0002c0002t0003	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(35): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0002g0008 a0001c0001t0004g0178 a0001c0001t0017g0177 a0001c0001t0019g0172 a0001c0001t0023g0164 a0001c0009t0001g0004 a0002c0002t0003g0161 a0002c0002t0003g0163	86	128	0.6719	-103	c.64+ others(15): Show c.64+2375_65-2308del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM86B2_chr8_12419421_12441400	12425370	CCTGGGAT others(96): Show CCTGGGATGTGGCAGCTGCAGCGGGCTTGGCTTTGTGAGGAACCGAGTGT GTCCAGGGATGTGGCAGCTGCAGCGGGCTTGGCTTTGTGAGGAACCGAGT GTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0018 a0011c0022t0018	a0011c0022t0018g0017 a0011c0022t0018g0017	1	50	0.0200	-103	c.41 others(9): Show c.416_*518del	FAM86B2	ENSG00000145002.13	transcript	ENST00000262365.9	protein_coding	8/8	416		chr8	TogoVar
FBXO34_chr14_55266421_55358611	55331645	AATATATA others(96): Show AATATATATATACCAACATGGTGTGTGTATATATATATATGTGTATATAT ATATATATATGTATATATATATGTATATATATATGTATATATATATGTGT GTAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0120 a0002c0002t0009g0121 a0002c0002t0009g0120 a0002c0002t0009g0121	2	326	0.0061	-103	c.-10 others(19): Show c.-10-18724_-10-18622del	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FER1L5_chr2_96637764_96709883	96659290	TTTCCTTC others(96): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG01891.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0191 a0001c0003t0001g0198 a0001c0002t0001g0191 a0001c0003t0001g0198	2	152	0.0132	-103	c.748 others(16): Show c.748-1048_748-946del	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FGD6_chr12_95071749_95222467	95149227	CATATATA others(96): Show CATATATATTATATAATATATAGCATATATATTATATATTATATTACATA TAGCATATATAATATTATATATAATATATTATATTATATAGCATATATTA TATA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0064 a0001c0003t0002g0064	1	325	0.0031	-103	c.268 others(19): Show c.2685+3481_2685+3583del	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar

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