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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADARB2_chr10_1172313_1742525	1238517	CTCTGCCT others(181): Show CTCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCT CTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0086 a0002c0002t0065g0086	1	106	0.0094	-188	c.136 others(19): Show c.1361+3426_1361+3613del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADGRD1_chr12_130948907_131146469	131037476	CCTCACTC others(181): Show CCTCACTCACTGCACTGGGTCTTACTCATTGCACTGGGTCTCACTCACTA CACCAGGTCTCAGTCACTGCACTGGGTCTCACTCACTGCACCAGGATCTT ACTGCATGGGGCCGCACTCACTGCACCGGGTCTCACTCACTGCACCAGGA TCTTACTCACTGCATGGGGCCTCACTCACTGCACCGGGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01496.hp1 HG01884.hp2 others(32): Show HG00738.hp2 HG01496.hp1 HG01884.hp2 HG01934.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 NA18906.hp2 NA18961.hp2 NA18982.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0046 a0002c0032 a0002c0033 a0002c0041 a0003c0030 a0006c0035 a0009c0039 a0010c0034	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(23): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0027 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0003t0004 a0001c0003t0012 a0001c0003t0018 a0001c0003t0036 a0001c0004t0005 a0001c0005t0014 a0001c0006t0001 a0001c0006t0008 a0001c0007t0018 a0001c0010t0007 a0001c0046t0017 a0002c0032t0038 a0002c0033t0030 a0002c0041t0004 a0003c0030t0032 a0006c0035t0047 a0009c0039t0001 a0010c0034t0026	a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0005g0055 others(32): Show a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0005g0055 a0001c0001t0009g0136 a0001c0001t0009g0141 a0001c0001t0016g0148 a0001c0001t0027g0118 a0001c0002t0001g0125 a0001c0002t0001g0223 a0001c0002t0003g0050 a0001c0002t0008g0016 a0001c0003t0004g0121 a0001c0003t0004g0122 a0001c0003t0004g0207 a0001c0003t0004g0234 a0001c0003t0012g0025 a0001c0003t0012g0027 a0001c0003t0018g0117 a0001c0003t0036g0209 a0001c0004t0005g0071 a0001c0005t0014g0049 a0001c0005t0014g0054 a0001c0006t0001g0120 a0001c0006t0001g0242 a0001c0006t0008g0178 a0001c0007t0018g0132 a0001c0010t0007g0161 a0001c0046t0017g0221 a0002c0032t0038g0090 a0002c0033t0030g0231 a0002c0041t0004g0179 a0003c0030t0032g0160 a0006c0035t0047g0219 a0009c0039t0001g0229 a0010c0034t0026g0043	35	238	0.1471	-188	c.147 others(21): Show c.1473+23339_1473+23526del		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
AKAP17A_chrX_1586604_1607520	1596431	CTCCTCCT others(181): Show CTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTGGATTC CTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGCGGAATCCTC CTCTTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTC CTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTGGAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01884.hp1 HG01884.hp2 others(2): Show HG01069.hp1 HG01884.hp1 HG01884.hp2 HG02630.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0003 a0001c0004 a0002c0002 a0002c0003	a0001c0004t0001 a0002c0002t0002 a0002c0003t0003 others(1): Show a0001c0004t0001 a0002c0002t0002 a0002c0003t0003 a0002c0003t0009	a0001c0004t0001g0046 a0001c0004t0001g0048 a0002c0002t0002g0047 others(2): Show a0001c0004t0001g0046 a0001c0004t0001g0048 a0002c0002t0002g0047 a0002c0003t0003g0103 a0002c0003t0009g0102	5	77	0.0649	-188	c.911 others(16): Show c.911+989_911+1176del		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
ANO1_chr11_70073317_70194530	70194336	ATGGATGG others(181): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGGTGAA TGAATGGATGTGTGGATGGATGGATGGATTGGGTGAATGAATGGATGTGT GGATGGATGGATGGATGGATGGTGGATGAATGGATGGATGGTAGATGAAT GGATGGATGGATGGATGAATGGATGGATGGATGGATGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp1 others(45): Show HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01496.hp2 HG01515.hp2 HG01952.hp2 HG01981.hp2 HG02074.hp2 HG02109.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02738.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18946.hp2 NA18967.hp2 NA18977.hp2 NA18990.hp2 NA19043.hp2 NA19056.hp2 NA19065.hp1 NA19085.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0009 a0013	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007 a0006c0015 a0009c0030 a0013c0024	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0015 a0001c0004t0001 a0003c0007t0001 a0006c0015t0001 a0009c0030t0001 a0013c0024t0001	a0001c0001t0001g0251 a0001c0001t0002g0196 a0001c0001t0002g0198 others(45): Show a0001c0001t0001g0251 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0203 a0001c0001t0002g0244 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0059 a0001c0002t0001g0064 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0108 a0001c0002t0001g0116 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0166 a0001c0002t0001g0297 a0001c0002t0002g0185 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0209 a0001c0002t0002g0219 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0233 a0001c0002t0002g0239 a0001c0002t0015g0232 a0001c0004t0001g0003 a0001c0004t0001g0011 a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0023 a0001c0004t0001g0160 a0001c0004t0001g0258 a0001c0004t0001g0295 a0001c0004t0001g0296 a0001c0004t0001g0299 a0003c0007t0001g0171 a0003c0007t0001g0177 a0003c0007t0001g0183 a0006c0015t0001g0270 a0006c0015t0001g0272 a0009c0030t0001g0266 a0013c0024t0001g0286	48	254	0.1890	-188	c.63 others(11): Show c.6333_*6520del		ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding					4807		chr11	TogoVar
ARHGAP8_chr22_44747575_44867784	44801022	CCGCCTCT others(181): Show CCGCCTCTCCCCGCAGCTGTGTGGGGGCACCTCTCCCCGCAGCTGTCCAT GTGTGAGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGGGGGCACCTCTC CCCGCAGCTGTCCATGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTG TGGGGGGCGCCCCTCCCCGCAGCTGTCCATGTGTGGGGG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0042 a0003c0042	a0003c0042t0002 a0003c0042t0002	a0003c0042t0002g0367 a0003c0042t0002g0367	1	357	0.0028	-188	c.80- others(14): Show c.80-1035_80-848del		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATP11A_chr13_112685038_112892168	112749805	TCCCCTTC others(181): Show TCCCCTTCAGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCAT CCTCCCATGTGGGGACACGCCTGCTGAAGGACGCGGGGTTGAATCCCCCT TCAGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCC ACGTGGGGACATGCCTGCTGAAGGAAGCGGGGTTGAATC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19007.hp1 NA18971.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0252 a0001c0002t0012g0191 a0001c0002t0012g0252	2	252	0.0079	-188	c.40- others(17): Show c.40-35273_40-35086del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79356806	TCTGGGTC others(181): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTC CGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAG GGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCC	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0215 a0002c0002t0002g0215	1	296	0.0034	-188	c.290 others(19): Show c.2904-2519_2904-2332del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357164	TCTGGGTC others(181): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTC CGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAG GGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19088.hp2 NA18948.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0136 a0001c0003t0001g0137	2	213	0.0094	-188	c.290 others(19): Show c.2904-2172_2904-1985del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
BRD1_chr22_49768283_49832873	49802319	GGGGGCCG others(181): Show GGGGGCCGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGG GGCCGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGC CGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGA GACCAATGCCTCCACTCTCTTCCATTCCCCAACATCGCA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01884.hp1 HG02040.hp2 others(19): Show HG01256.hp2 HG01884.hp1 HG02040.hp2 HG02109.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03704.hp1 NA18906.hp1 NA19043.hp2 NA19088.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0001c0005 a0004c0014 a0001c0004 a0001c0005 a0004c0014	a0001c0004t0001 a0001c0005t0001 a0004c0014t0001 a0001c0004t0001 a0001c0005t0001 a0004c0014t0001	a0001c0004t0001g0018 a0001c0004t0001g0188 a0001c0004t0001g0189 others(18): Show a0001c0004t0001g0018 a0001c0004t0001g0188 a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0004t0001g0194 a0001c0004t0001g0195 a0001c0004t0001g0196 a0001c0004t0001g0198 a0001c0004t0001g0199 a0001c0004t0001g0201 a0001c0004t0001g0202 a0001c0005t0001g0010 a0001c0005t0001g0191 a0001c0005t0001g0192 a0001c0005t0001g0197 a0001c0005t0001g0203 a0001c0005t0001g0204 a0001c0005t0001g0205 a0001c0005t0001g0206 a0001c0005t0001g0209 a0004c0014t0001g0207	22	256	0.0859	-188	c.152 others(19): Show c.1524+1697_1524+1884del		BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12						chr22	TogoVar
BRSK2_chr11_1384934_1467689	1431675	GTCTGGTC others(181): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	358	0.0028	-188	c.92- others(15): Show c.92-4364_92-4177del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19						chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432893	GTCTTCTG others(181): Show GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG01257.hp1 others(17): Show HG00280.hp2 HG00438.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG02080.hp1 HG02486.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03831.hp1 NA18939.hp1 NA19030.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0001t0062 a0001c0001t0075 a0002c0002t0005 a0002c0002t0016 a0002c0002t0030 a0002c0002t0072 a0002c0005t0034	a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0076 others(16): Show a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0076 a0001c0001t0001g0336 a0001c0001t0003g0004 a0001c0001t0003g0192 a0001c0001t0003g0284 a0001c0001t0004g0172 a0001c0001t0004g0187 a0001c0001t0028g0329 a0001c0001t0028g0330 a0001c0001t0062g0255 a0001c0001t0075g0212 a0002c0002t0005g0207 a0002c0002t0016g0200 a0002c0002t0030g0170 a0002c0002t0072g0272 a0002c0005t0034g0057 a0002c0005t0034g0058	20	358	0.0559	-188	c.92- others(15): Show c.92-3067_92-2880del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
C13orf46_chr13_113948705_113979076	113974168	TGCAGGCC others(181): Show TGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGC AGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGG CCGGGGTTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCG GGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03486.hp1 HG03579.hp1 others(1): Show HG02257.hp2 HG03486.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0055 others(1): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0055 a0001c0001t0059	a0001c0001t0007g0105 a0001c0001t0013g0104 a0001c0001t0055g0103 others(1): Show a0001c0001t0007g0105 a0001c0001t0013g0104 a0001c0001t0055g0103 a0001c0001t0059g0106	4	387	0.0103	-188	c.-35 others(9): Show c.-359_-172del		C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding					93		chr13	TogoVar
C2CD4C_chr19_400445_414147	404224	GGGGACGG others(181): Show GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGTCCTG AGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGGTGTGGGGGGGA CGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAG GGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA19085.hp1 NA18966.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0062 a0001c0002t0003 a0001c0002t0062	a0001c0002t0003g0002 a0001c0002t0062g0125 a0001c0002t0003g0002 a0001c0002t0062g0125	2	319	0.0063	-188	c.26 others(11): Show c.2684_*2871del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1220		chr19	TogoVar
C7orf50_chr7_992006_1143247	1128595	CGTCACCC others(181): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTC ACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0302 a0002c0002t0003g0302	1	317	0.0032	-188	c.-1- others(15): Show c.-1-1397_-1-1210del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1128859	GATCTCGG others(181): Show GATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTC GGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG01169.hp2 others(8): Show HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01346.hp2 HG03490.hp1 HG03704.hp2 NA18943.hp1 NA18952.hp1 NA18959.hp1 NA18965.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0020 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0108	11	261	0.0421	-188	c.-1- others(15): Show c.-1-1661_-1-1474del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
CACNA2D4_chr12_1786963_1923652	1921487	CCACAGCC others(181): Show CCACAGCCACGAGGCCCTACCTGGCTGGAGCTGGCTTGATTTTAAAAATC ATTCCAAATTACAAATTTTAAGAAGCTGATGAATGCCACCAAATTCACAG CCACGAGGCCCCACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCA AATTACAAATTTTAAGAAGCTGATGAATGCCACCAAATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00609.hp2 others(102): Show HG00140.hp1 HG00280.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01884.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03710.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18980.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA19081.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0007 a0008 a0012 a0013	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0014 a0001c0043 a0001c0048 a0001c0049 a0001c0052 a0003c0013 a0005c0035 a0005c0051 a0007c0041 a0008c0016 a0012c0024 a0013c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0020 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0008 a0001c0006t0018 a0001c0007t0001 a0001c0009t0001 a0001c0009t0002 a0001c0011t0002 a0001c0014t0002 a0001c0043t0001 a0001c0048t0001 a0001c0049t0006 a0001c0052t0001 a0003c0013t0002 a0005c0035t0012 a0005c0051t0001 a0007c0041t0005 a0008c0016t0002 a0008c0016t0003 a0012c0024t0002 a0013c0037t0002	a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0089 others(102): Show a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0246 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0127 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0155 a0001c0001t0002g0175 a0001c0001t0002g0223 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0045 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0003g0124 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0004g0040 a0001c0001t0004g0074 a0001c0001t0005g0056 a0001c0001t0005g0224 a0001c0001t0006g0152 a0001c0001t0006g0158 a0001c0001t0006g0163 a0001c0001t0010g0149 a0001c0001t0015g0316 a0001c0001t0022g0164 a0001c0002t0001g0051 a0001c0002t0001g0080 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0002g0081 a0001c0002t0002g0189 a0001c0004t0001g0088 a0001c0004t0001g0119 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0020g0141 a0001c0005t0001g0133 a0001c0006t0001g0071 a0001c0006t0001g0286 a0001c0006t0001g0287 a0001c0006t0002g0068 a0001c0006t0008g0072 a0001c0006t0008g0285 a0001c0006t0018g0011 a0001c0007t0001g0138 a0001c0009t0001g0147 a0001c0009t0002g0310 a0001c0011t0002g0299 a0001c0014t0002g0309 a0001c0043t0001g0289 a0001c0048t0001g0069 a0001c0049t0006g0301 a0001c0052t0001g0288 a0003c0013t0002g0067 a0005c0035t0012g0154 a0005c0051t0001g0281 a0007c0041t0005g0168 a0008c0016t0002g0117 a0008c0016t0003g0118 a0012c0024t0002g0126 a0013c0037t0002g0121	105	269	0.3903	-188	c.-32 others(11): Show c.-3202_-3015del		CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding					2836		chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1921504	TACCTGGC others(181): Show TACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATT TTAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTG GCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGA AGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01074.hp1 others(19): Show HG00733.hp1 HG00735.hp1 HG01074.hp1 HG01257.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp2 HG03471.hp1 HG03579.hp1 HG03942.hp2 NA18522.hp2 NA18906.hp1 NA18954.hp2 NA18983.hp1 NA19002.hp2 NA19030.hp1 NA19056.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0017	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0017 a0003c0013 a0006c0018 a0017c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 a0001c0003t0005 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0010t0001 a0001c0017t0001 a0003c0013t0001 a0006c0018t0004 a0017c0030t0001	a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0002g0123 others(19): Show a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0174 a0001c0001t0010g0160 a0001c0003t0001g0058 a0001c0003t0001g0125 a0001c0003t0005g0029 a0001c0005t0001g0134 a0001c0005t0001g0135 a0001c0006t0001g0302 a0001c0007t0001g0213 a0001c0009t0001g0053 a0001c0010t0001g0027 a0001c0010t0001g0030 a0001c0010t0001g0057 a0001c0017t0001g0283 a0001c0017t0001g0284 a0003c0013t0001g0226 a0006c0018t0004g0282 a0017c0030t0001g0225	22	188	0.1170	-188	c.-32 others(11): Show c.-3219_-3032del		CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding					2853		chr12	TogoVar
CACNG7_chr19_53904278_53948950	53921741	GCCCCAGG others(181): Show GCCCCAGGTCTGGTATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGA GTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTG GTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCAT TGGTGGAGTTGTCCCCAGGTCTGGTATTGGTGGAGTTGT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	298	0.0034	-188	c.424 others(17): Show c.424+6250_424+6437del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921768	TCCCAGGT others(181): Show TCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGG AGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGG TGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTAT TGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00639.hp2 others(29): Show HG00140.hp2 HG00323.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01243.hp1 HG01255.hp2 HG02109.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03486.hp2 HG03516.hp2 HG04204.hp1 HG04228.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0023	a0001c0001t0001g0008 a0001c0001t0001g0101 a0001c0001t0001g0210 others(28): Show a0001c0001t0001g0008 a0001c0001t0001g0101 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0039 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0004g0216 a0001c0001t0005g0340 a0001c0001t0007g0072 a0001c0001t0013g0013 a0001c0001t0023g0213	32	322	0.0994	-188	c.424 others(17): Show c.424+6267_424+6454del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85768921	AGTATATA others(181): Show AGTATATATACACATATATACATATATAGTATATATACACATATATACAT ATATAGTATATATACACATATATACATATATAGTATATATACACATATAT ACATATATAGTATATATACACATATATACATATATAGTATATATACACAT ATATACATATATAGTATATATACACATATATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp2 HG03130.hp1 others(1): Show HG02886.hp2 HG02965.hp2 HG03130.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0032 a0001c0001t0002g0136 a0001c0001t0002g0144 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0136 a0001c0001t0002g0144 a0001c0001t0023g0006	4	146	0.0274	-188	c.89- others(17): Show c.89-33004_89-32817del		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CCNF_chr16_2424447_2463854	2442455	TAATATAA others(181): Show TAATATAATATTATTATATATAATATATAATATTATATAATATAATATTA TTATATATAATATATAATATTATATAATATAATATTATTATATATAATAT ATAATATTATATAATATAATATTATTATATATAATATATAATATTATATA ATATAATATTATATATAATATATAATATTATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0131 a0001c0006t0002g0131	1	273	0.0037	-188	c.778 others(17): Show c.778-1192_778-1005del		CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
CD8B_chr2_86833167_86866886	86858232	TGCGGAAT others(181): Show TGCGGAATCCCAGAGGGCCAGGAACTCGTGGTGACTGTCACTGCTCGGTG CCTGGCGCTGTCTCAGCCAGTAGATGCGCATGTTACTGAGGGAGATTTTA GCCTCGCAGGACAGCATCACCATCTTGTTGGTTTGCACCTTTATGTATGC AGGGGTCTGCTGGAGGACTGAGTTGCCATGGAGAACTAG	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG04228.hp1 HG04228.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0163 a0005c0008t0002g0163	1	390	0.0026	-188	c.44- others(8): Show c.44-4_227del	p.Val others(4): Show p.Val15fs	CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding	2/6	248/4794	44/633	15/210			chr2	TogoVar
CDH4_chr20_61247261_61945617	61783763	TAGTTCCT others(181): Show TAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAG AGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTC CTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAG GCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	99	0.0101	-188	c.576 others(19): Show c.576+10629_576+10816del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784300	TTGTGCCC others(181): Show TTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAG GCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAATCCCAGTTCCTCGGG ACAGTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATC CCAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATCC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0025 a0002c0004t0025	a0002c0004t0025g0098 a0002c0004t0025g0098	1	95	0.0105	-188	c.576 others(19): Show c.576+11129_576+11316del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784510	GCCCAGTT others(181): Show GCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCC AAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCCAGGCCCTCCGAT ATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCG AGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAAT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG04204.hp2 NA19030.hp1 HG02145.hp2 HG04204.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 a0001c0001 a0002c0002 a0002c0009	a0001c0001t0001 a0002c0002t0004 a0002c0009t0031 a0001c0001t0001 a0002c0002t0004 a0002c0009t0031	a0001c0001t0001g0006 a0002c0002t0004g0022 a0002c0009t0031g0009 a0001c0001t0001g0006 a0002c0002t0004g0022 a0002c0009t0031g0009	3	92	0.0326	-188	c.576 others(19): Show c.576+11352_576+11539del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP221_chr2_119539449_119661661	119552651	ATATTTCT others(181): Show ATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTTTAATA AGAAATAAATAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATAT TTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTTTAATAAGAAATAA ATAGAAATATTTCTTTAATAAGAAATAAAGAGAAATATT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	224	0.0045	-188	c.240 others(17): Show c.240+3468_240+3655del		CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTRL_chr9_121069955_121182610	121092554	ATATATAT others(181): Show ATATATATAATATATATCTATATATATAATATATATCTATATATATAATA TATATCTATATATATTATATATATCTATATATATAATATATATCTATATA TAATATATATCTATATATATAATATATATCTATATATATAATATATATCT ATATATATAATATATATCTATATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18967.hp1 NA18946.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0121 a0002c0002t0001g0045 a0002c0002t0001g0121	2	327	0.0061	-188	c.348 others(17): Show c.348+2176_349-2120del		CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL23A1_chr5_178232618_178595393	178559669	TCCAAAAG others(181): Show TCCAAAAGTCACCTTTCCCTGCACGTCGAGAAGTCTGAGACACATCACCC AAAAGCCACCTTTCCCTGCATGTCGAGAAGTCTGAGACACATCACCCAAA AGAGACCTTTCCCTGCACATCGAGAAGTCTGAGACACATCACCCAAAAGT CACCTTTCCCTGCACGTCGAGAAGTCTGAGACACATCAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0008 a0002c0003 a0005c0008	a0002c0003t0003 a0005c0008t0002 a0002c0003t0003 a0005c0008t0002	a0002c0003t0003g0094 a0005c0008t0002g0093 a0005c0008t0002g0095 a0002c0003t0003g0094 a0005c0008t0002g0093 a0005c0008t0002g0095	3	234	0.0128	-188	c.361 others(16): Show c.361+825_361+1012del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
CSNK1G2_chr19_1936172_1986338	1959583	GTCCCACC others(181): Show GTCCCACCTTTAGTGCCACCCTGAGTCCCCCAGCACCCGTGCCACCTTTA GTGCCACCGTGGGTCCCCCAGCACCCGCCCCACCTTTAGTGCCACCGTGG GTCCCCCAGCACCCGTCCCACCTTTAGTGCCACCCTGAGTCCTCCAGCAC CTGTGCCACCTTTAGTGCCACCGTGGGTCCCCCAGCACC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02258.hp2 others(7): Show HG01884.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02615.hp1 HG02647.hp2 HG02922.hp1 HG02965.hp2 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0012g0016 a0001c0002t0002g0222 a0001c0002t0002g0231 a0001c0002t0002g0318 a0001c0002t0010g0221	10	380	0.0263	-188	c.-26 others(19): Show c.-265-9924_-265-9737del		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11						chr19	TogoVar
CTDP1_chr18_79674803_79759503	79694219	GGGTGGTC others(181): Show GGGTGGTCGGAGCAGCCCGGCTGGGATGGGAGTGTGGGGGCTACAGGCAC CTAGGGGTGGGCGCTGAGTGCTGGGCGGTCTCATGTCCACGGGGTGGGGT GGTCGGAGCAGCCCAGCTGGGACGGGAGTGTGGGGGTTGCGAGCTCCTAG GGACACTGAGTGCCGGGCAGCCTCGTGTCCGCGGGGCGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(113): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18980.hp1 NA18980.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0014 a0015 a0016	a0001c0001 a0001c0003 a0001c0029 others(10): Show a0001c0001 a0001c0003 a0001c0029 a0001c0035 a0002c0002 a0003c0005 a0003c0009 a0003c0012 a0004c0004 a0005c0015 a0014c0031 a0015c0033 a0016c0034	a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 a0001c0029t0001 a0001c0035t0002 a0002c0002t0001 a0003c0005t0002 a0003c0009t0002 a0003c0012t0002 a0004c0004t0001 a0005c0015t0005 a0014c0031t0004 a0015c0033t0002 a0016c0034t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0022 others(109): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0205 a0001c0001t0002g0334 a0001c0001t0004g0146 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0183 a0001c0003t0002g0104 a0001c0029t0001g0033 a0001c0035t0002g0004 a0002c0002t0001g0271 a0003c0005t0002g0003 a0003c0005t0002g0011 a0003c0005t0002g0012 a0003c0005t0002g0013 a0003c0005t0002g0014 a0003c0005t0002g0107 a0003c0005t0002g0108 a0003c0005t0002g0111 a0003c0005t0002g0112 a0003c0005t0002g0113 a0003c0005t0002g0114 a0003c0005t0002g0115 a0003c0005t0002g0116 a0003c0005t0002g0118 a0003c0005t0002g0120 a0003c0005t0002g0123 a0003c0005t0002g0124 a0003c0005t0002g0126 a0003c0005t0002g0127 a0003c0005t0002g0128 a0003c0005t0002g0129 a0003c0005t0002g0132 a0003c0005t0002g0133 a0003c0009t0002g0109 a0003c0009t0002g0110 a0003c0009t0002g0119 a0003c0009t0002g0121 a0003c0009t0002g0122 a0003c0009t0002g0125 a0003c0012t0002g0001 a0004c0004t0001g0325 a0005c0015t0005g0359 a0014c0031t0004g0195 a0015c0033t0002g0142 a0016c0034t0002g0117	116	373	0.3110	-188	c.315 others(15): Show c.315-892_315-705del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79694333	AGCTGGGA others(181): Show AGCTGGGACGGGAGTGTGGGGGTTGCGAGCTCCTAGGGACACTGAGTGCC GGGCAGCCTCGTGTCCGCGGGGCGCGGTGGTCGGAGCAGCCCGGCTGGGA TGGGAGTGTGGGGGCTACAGGCACCTAGGGGTGGGCGCTGAGTGCTGGGC GGTCTCATGTCCACGGGGTGGGGTGGTCGGAGCAGCCCG	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0106 a0003c0005t0002g0106	1	365	0.0027	-188	c.315 others(15): Show c.315-885_315-698del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
DCBLD2_chr3_98790941_98906695	98837506	CGGGCGGG others(181): Show CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02896.hp1 HG02897.hp2 others(2): Show HG01975.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0002 a0001c0001t0001g0177 a0001c0001t0001g0179	5	328	0.0152	-188	c.571 others(19): Show c.571+11767_571+11954del		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15						chr3	TogoVar
DGKB_chr7_14140049_14907751	14212240	TTACTCTC others(181): Show TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTC ATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATATT TACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19081.hp2 NA18960.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0041 a0001c0001t0007g0037 a0001c0001t0002g0041 a0001c0001t0007g0037	2	146	0.0137	-188	c.212 others(21): Show c.2123-34277_2123-34090del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DHRS12_chr13_51762993_51809163	51775254	CTACTACA others(181): Show CTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCC TACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTC TCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTAT TCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	418	0.0024	-188	c.364 others(17): Show c.364-1408_364-1221del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DIP2C_chr10_269201_694668	322902	GCGGGGCT others(181): Show GCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG03225.hp1 HG00673.hp1 HG02027.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0025 a0001c0003t0002g0050 a0001c0003t0002g0060 a0001c0001t0002g0025 a0001c0003t0002g0050 a0001c0003t0002g0060	3	86	0.0349	-188	c.392 others(19): Show c.3924+3916_3924+4103del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	323049	GCGGGGCT others(181): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCG GGGGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	85	0.0118	-188	c.392 others(19): Show c.3924+3769_3924+3956del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	323147	GCGGGGCT others(181): Show GCGGGGCTCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTG CGGGGGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG00673.hp1 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0050 a0001c0003t0002g0060 a0001c0003t0002g0050 a0001c0003t0002g0060	2	82	0.0244	-188	c.392 others(19): Show c.3924+3671_3924+3858del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DLGAP2_chr8_732628_1713476	1015529	GTGTGTGT others(181): Show GTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGAT GCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-188	c.73+ others(19): Show c.73+107586_73+107773del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1450082	AGCGGCGT others(181): Show AGCGGCGTGTGAGGGTGAAGACGAGGTGGGCGGCCTCCGTGGCTGAGGTG GAGCTCTGAGGGTGAAGACGAGGTGGGCGGCCCTGGTGCCTCGGGCAGAG CTCTGAGGGTGAAGACCGAGGTGGGCCGCCTCGGTGGCTGAGGCGGAGCT GTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02647.hp1 HG02818.hp1 others(3): Show HG00639.hp2 HG02647.hp1 HG02818.hp1 HG02976.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 others(1): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010	a0001c0002t0001 a0001c0002t0022 a0001c0002t0027 others(3): Show a0001c0002t0001 a0001c0002t0022 a0001c0002t0027 a0001c0003t0017 a0001c0009t0012 a0001c0010t0025	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0002t0027g0023 others(3): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0002t0027g0023 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0010t0025g0012	6	37	0.1622	-188	c.107 others(19): Show c.107-51279_107-51092del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF3B_chr7_2349827_2385745	2377755	ATGCTGTG others(181): Show ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACC CTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0178 a0001c0003t0001g0178	1	382	0.0026	-188	c.215 others(17): Show c.2154+681_2155-746del		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18						chr7	TogoVar
ERC1_chr12_986223_1500931	1079543	TAGAAATG others(181): Show TAGAAATGATTTGTAATATGACAAAAGTCGATATACAGAGATACAGATAG AAATGATTTGTAATATGACAAAAGTCGATATACAGAGATACAGATAGAAA TGATTTGTAATATGACAAAAGTCGATATACAGAGATACAGATAGAAATGA TTTGTAATATGACAAAAGTCGATATACAGAGATATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp1 others(22): Show HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00741.hp1 HG01109.hp2 HG01175.hp2 HG01361.hp2 HG01515.hp2 HG01993.hp2 HG02055.hp2 HG02129.hp1 HG02155.hp2 HG02615.hp1 HG02647.hp2 HG02735.hp1 HG02886.hp2 HG02896.hp1 HG03669.hp1 NA18966.hp2 NA18982.hp2 NA19043.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0009c0009	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(12): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0030 a0001c0001t0032 a0001c0001t0042 a0001c0001t0048 a0001c0003t0006 a0002c0002t0010 a0002c0002t0012 a0002c0002t0028 a0002c0002t0029 a0002c0002t0050 a0009c0009t0012	a0001c0001t0005g0109 a0001c0001t0005g0111 a0001c0001t0005g0118 others(22): Show a0001c0001t0005g0109 a0001c0001t0005g0111 a0001c0001t0005g0118 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0006g0113 a0001c0001t0006g0116 a0001c0001t0006g0120 a0001c0001t0007g0084 a0001c0001t0012g0112 a0001c0001t0030g0159 a0001c0001t0032g0129 a0001c0001t0042g0085 a0001c0001t0048g0083 a0001c0003t0006g0114 a0002c0002t0010g0087 a0002c0002t0010g0089 a0002c0002t0010g0090 a0002c0002t0010g0091 a0002c0002t0012g0115 a0002c0002t0028g0097 a0002c0002t0029g0117 a0002c0002t0050g0138 a0009c0009t0012g0110	25	160	0.1563	-188	c.670 others(17): Show c.670-3452_670-3265del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121649	CTCTATCT others(181): Show CTCTATCTCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTCT ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTATCT CTATCTCTATCTCTATCTATCTCTATCTCTATCTATCTCTATCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0153 a0001c0001t0021g0153	1	154	0.0065	-188	c.156 others(19): Show c.1569+5648_1569+5835del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FAM161A_chr2_61819848_61859060	61848881	TATATTTA others(181): Show TATATTTATATATATTTATATATATATTTATATATTTATATATATTTATA TATATATATTTATATATATTTATATATATATTTATATATATATATATTTA TATATTTATATATATTTATATATATATTTATATATTTATATATATTTATA TATATATTTATATATTTATATATATTTATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	398	0.0025	-188	c.183 others(17): Show c.183+4790_183+4977del		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6						chr2	TogoVar
FAM174B_chr15_92612448_92660775	92631221	TTATATAT others(181): Show TTATATATAATATATTATATATTATATTATATATAATATATTATATATTA TATTATATATAATATATTATATATTATATATAATATATTATATATAATAT TATATATAATATATTATATATTATATATAATATATTATATATTATATTAT ATATAATATATTATATATTATATATTATATTATATTATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	392	0.0026	-188	c.345 others(16): Show c.345-1064_345-877del		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
GRHL2_chr8_101487439_101674726	101603106	AATGTGAA others(181): Show AATGTGAATACATATCAACAAGCTGGATAATACCACTTGAGGATTAAGAA TGAGGTTTTTTTTGCACCAAGTTTTATATATCATCTTTGAAGCTGGCCAT ATCAGAGGAGACCTTCTAAATATGCTTTAAAGCCATGGCAGCATCATTGG AGAAACCTGTATGTCTTCCCAAGATGATTATGTTAAAGG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0270 a0001c0002t0009g0270	1	304	0.0033	-188	c.109 others(19): Show c.1098+3958_1098+4145del		GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
GYG2_chrX_2823930_2887818	2845015	ATGTGTAT others(181): Show ATGTGTATGTATATTTATATACACATGTGTATGTATATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACGTGTGTATGTATATTTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02155.hp2 HG02809.hp1 others(8): Show HG00323.hp1 HG02155.hp2 HG02809.hp1 HG03041.hp1 NA18955.hp1 NA18968.hp2 NA18969.hp1 NA18994.hp1 NA18999.hp1 NA19065.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0004t0002 a0002c0002t0002 a0002c0002t0005	a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0002g0293 others(8): Show a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0003g0105 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0016g0097 a0001c0004t0002g0053 a0002c0002t0002g0054 a0002c0002t0005g0098	11	271	0.0406	-188	c.149 others(17): Show c.149+1685_149+1872del		GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
GZMA_chr5_55097646_55115252	55105992	TAAATAAA others(181): Show TAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG01070.hp2 others(32): Show HG00558.hp1 HG00735.hp1 HG01070.hp2 HG01934.hp1 HG01934.hp2 HG02155.hp1 HG02165.hp2 HG02559.hp1 HG02622.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03139.hp2 HG03942.hp1 HG04184.hp1 NA18747.hp2 NA18948.hp2 NA18950.hp1 NA18960.hp1 NA18960.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp2 NA19007.hp1 NA19043.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19090.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0035 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0002t0001g0007 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0002g0007 a0002c0003t0001g0001 a0005c0006t0001g0001	35	380	0.0921	-188	c.215 others(15): Show c.215+378_215+565del		GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
HCN1_chr5_45249948_45701380	45373567	TTATATAC others(181): Show TTATATACGTCATCTATAATATATTACATACGGTATATACGTCATCTATA ATATATTACATACGGTATATACGTCATCTATAATATATTACATACGGTAT ATACGTCATCTATAATATATTACATACGGTATATACGTCATCTATAATAT ATTACGGTATATACGTCATCTATAATATATTACATACGG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02897.hp1 HG01433.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0222 a0002c0002t0014g0223 a0002c0002t0014g0222 a0002c0002t0014g0223	2	208	0.0096	-188	c.123 others(21): Show c.1231-20509_1231-20322del		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	TTCTCTCT others(181): Show TTCTCTCTCTCTCTCTCTCACTCTCACTCTCGTGCTCTCTCTCTCTCCAT ATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTGCTCTCTCTCTCTCC ATATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0105 a0003c0004t0001g0105	1	78	0.0128	-188	c.436 others(19): Show c.4368-1338_4368-1151del		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132116647	TGTGTGAG others(181): Show TGTGTGAGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAGATG TGTGAGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAGATGTG TGAGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAGGTGTGAG TGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0022 a0001c0042t0022	a0001c0042t0022g0127 a0001c0042t0022g0127	1	156	0.0064	-188	c.136 others(15): Show c.136-383_136-196del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr10	TogoVar

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