Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADARB2_chr10_1172313_1742525	1238368	TACTCCCT others(207): Show TACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTC TCCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0021 a0002c0002t0027g0021	1	101	0.0099	-214	c.136 others(19): Show c.1361+3549_1361+3762del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ANO9_chr11_412938_447011	425060	CGTGGAGA others(207): Show CGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGGGA CGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGGGACGCGCGGGAGGAAAA GGCGGCGTGGAGAGACGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGCGA CGGGACGCGCGGGAGGAAAAGGCGGCGTGGAGAGACGGGACGCGCGGGAG CAAAAGGCGGCGTGG	C C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	284	0.0035	-214	c.133 others(19): Show c.1334+2814_1334+3027del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22			chr11	TogoVar
BICRA_chr19_47604134_47708277	47671655	ATGGAAGG others(207): Show ATGGAAGGATGGAGGGATGGGTAGGTAGACGGGTAGAAGGATGGAGGGAT GGGTGGGTAGATGGGTAGAAGGATGGAGGGGATGGGTAGGTAGATGGATG GAAGGATGGAGGGATGGGCAAGTAGATGGAAGGATGGAGGGATGGGTAGC TAGATGGATGGAGGGATGAATAGGTGGATGGATGGAAGGATGGGAGGGAT GGGTAGGTAGATGAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0009 a0003c0014t0009	a0003c0014t0009g0101 a0003c0014t0009g0101	1	310	0.0032	-214	c.-6+ others(15): Show c.-6+1140_-6+1353del	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
C3_chr19_6672704_6725650	6693918	TCTGGCCT others(207): Show TCTGGCCTGGGAGGAGTCAGGGCCTCAGAGGGCGTGGCCTTGAGAAGAGG TGGGAGGCCCTCAGGGGATGGGCATGGCCTTGAGGAGAGGCGGGGTCTCA TGAAGAGCCTGGCCTGGGAGGAGTCAGGGCCTCAGAGGGCGTGGCCTTGA GAAGAGGTGGGGGGCCCTCAGGGGATGGGCATGGCCTTGAGGAGAGGCGG GGTCTCATGAAGAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(27): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00741.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp2 HG01934.hp2 HG01993.hp1 HG02055.hp2 HG02132.hp1 HG02258.hp1 HG02683.hp1 HG02976.hp2 HG03139.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG04184.hp1 NA18747.hp1 NA18939.hp1 NA18947.hp2 NA18956.hp2 NA18979.hp1 NA18982.hp2 NA19004.hp1 NA19085.hp2 NA19087.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0008 a0001c0009 a0001c0017 others(9): Show a0001c0008 a0001c0009 a0001c0017 a0001c0018 a0001c0022 a0001c0028 a0001c0033 a0001c0034 a0001c0035 a0001c0053 a0001c0066 a0003c0071	a0001c0008t0001 a0001c0009t0001 a0001c0017t0001 others(10): Show a0001c0008t0001 a0001c0009t0001 a0001c0017t0001 a0001c0018t0001 a0001c0022t0001 a0001c0022t0002 a0001c0028t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0002 a0001c0053t0001 a0001c0066t0001 a0003c0071t0001	a0001c0008t0001g0197 a0001c0009t0001g0006 a0001c0009t0001g0020 others(25): Show a0001c0008t0001g0197 a0001c0009t0001g0006 a0001c0009t0001g0020 a0001c0009t0001g0179 a0001c0009t0001g0184 a0001c0009t0001g0187 a0001c0009t0001g0195 a0001c0009t0001g0208 a0001c0017t0001g0087 a0001c0017t0001g0180 a0001c0017t0001g0182 a0001c0017t0001g0183 a0001c0018t0001g0181 a0001c0018t0001g0185 a0001c0018t0001g0192 a0001c0018t0001g0305 a0001c0022t0001g0010 a0001c0022t0002g0257 a0001c0028t0001g0055 a0001c0028t0001g0149 a0001c0033t0001g0017 a0001c0034t0001g0019 a0001c0034t0001g0051 a0001c0035t0002g0059 a0001c0035t0002g0206 a0001c0053t0001g0306 a0001c0066t0001g0288 a0003c0071t0001g0155	30	360	0.0833	-214	c.315 others(17): Show c.3154+299_3155-432del	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	24/40			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2106456	TGGGGTGT others(207): Show TGGGGTGTCCTGAAGCCACTGGGAGCCCACCCCGGGGAGGGTTTCCACCT CAGCTGGGTGTCCTGAAGCCACTGGGCGCCCACCCTGGAGAGGGTTTCCA CCTCAGCTGGGCATCCTGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTT CCACCTCAGCTGGGCATCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGG TTTCCACCTCAGCTG	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02273.hp1 HG01993.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0062 a0001c0003t0008g0064 a0001c0003t0008g0062 a0001c0003t0008g0064	2	69	0.0290	-214	c.50- others(15): Show c.50-8764_50-8551del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNG7_chr19_53904278_53948950	53921642	TCTGGTCA others(207): Show TCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCC CAGGTCTGGTCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGTGGAGTTG CCCCAGGTCTGGTATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAG TTGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGG TGGAGTTGTCCCAGG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp1 HG01993.hp2 others(5): Show HG01070.hp2 HG01884.hp1 HG01993.hp2 HG02647.hp2 HG02922.hp2 HG03041.hp2 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0040 a0001c0001t0001g0246 a0001c0001t0001g0309 others(5): Show a0001c0001t0001g0040 a0001c0001t0001g0246 a0001c0001t0001g0309 a0001c0001t0002g0038 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035	8	363	0.0220	-214	c.424 others(17): Show c.424+6153_424+6366del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15676382	CATTCCTC others(207): Show CATTCCTCTCCTCACTCACTCATTCCTGTGCCCATTCACTCATTCCTCTC CTCACTCACTCATTCCTCTCCTCATTCAGTCATTCCTGTCCTCACTCACT CATTCCTTTTCTCACTCATTCATTCCTCTCCTCACCCACTCATTCCTCTG CCCACTCACTCATTCATATCCTCACTCACTCATTCCTCTACCCACACTCA TTCCTCTCCTCACTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(375): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0006 a0007 a0008 a0010 a0011 a0013 a0016 a0017 a0019 a0020	a0001c0001 a0001c0008 a0001c0011 others(14): Show a0001c0001 a0001c0008 a0001c0011 a0002c0002 a0002c0005 a0002c0019 a0003c0003 a0006c0006 a0007c0009 a0008c0010 a0010c0015 a0011c0018 a0013c0024 a0016c0023 a0017c0025 a0019c0020 a0020c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0008t0002 a0001c0011t0001 a0002c0002t0001 a0002c0002t0003 a0002c0005t0001 a0002c0019t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0006c0006t0001 a0007c0009t0001 a0008c0010t0001 a0010c0015t0001 a0011c0018t0001 a0013c0024t0002 a0016c0023t0002 a0017c0025t0003 a0019c0020t0001 a0020c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(213): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0003g0056 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0006g0002 a0001c0001t0006g0198 a0001c0008t0002g0060 a0001c0008t0002g0073 a0001c0008t0002g0186 a0001c0011t0001g0047 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0070 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0105 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0173 a0002c0002t0001g0183 a0002c0002t0001g0211 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0100 a0002c0005t0001g0001 a0002c0005t0001g0026 a0002c0019t0001g0004 a0003c0003t0002g0010 a0003c0003t0002g0015 a0003c0003t0002g0022 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0108 a0003c0003t0002g0109 a0003c0003t0002g0110 a0003c0003t0002g0111 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0122 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0004g0121 a0003c0003t0005g0043 a0003c0003t0005g0136 a0003c0003t0005g0137 a0006c0006t0001g0016 a0006c0006t0001g0139 a0006c0006t0001g0140 a0007c0009t0001g0013 a0007c0009t0001g0031 a0007c0009t0001g0191 a0008c0010t0001g0034 a0010c0015t0001g0212 a0011c0018t0001g0017 a0013c0024t0002g0131 a0016c0023t0002g0022 a0017c0025t0003g0096 a0019c0020t0001g0155 a0020c0017t0001g0002	378	408	0.9265	-214	c.199 others(17): Show c.199-1873_199-1660del	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DACH1_chr13_71432966_71872204	71553237	CATATATC others(207): Show CATATATCCATATATGTATATTAGACATATATCCATATATGTATATTAGA CATATATCCATATATGTATATTAGACATATATCCATATATGTATATTAGA CATATATCCATATATGTATATTAGACATATATCCATATATGTATATTAGA CATATATCCATATATGTATATTAGACATATATCCATATATGTATATTAGA CATATATCCATATAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0005 a0003c0003t0002g0005	1	100	0.0100	-214	c.157 others(19): Show c.1570+3573_1570+3786del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DGKB_chr7_14140049_14907751	14211404	ATTTACTC others(207): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	144	0.0069	-214	c.212 others(21): Show c.2123-33467_2123-33254del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2C_chr10_269201_694668	678856	CTGCTCCC others(207): Show CTGCTCCCCACGCCCATGCTCCCCGCACCCATCCTCCCCCCACCCATGCT CCCCGCGCCCATGCTCCCCGCACCCATGCTCCCCACACCCGTCCTCCCCG CGCCCATGCTCCTCACACCCGTGCTCCCCGCGCCCATCTCTGCTCCCCAT GTCCATGCTCCCCGCACCTGTCCTCCCCGCGCCCATGCTCCCCACACCCG TCCTCCCCGCGCCCA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18970.hp2 HG03225.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0001 a0001c0015t0002 a0001c0004t0001 a0001c0015t0002	a0001c0004t0001g0083 a0001c0015t0002g0082 a0001c0004t0001g0083 a0001c0015t0002g0082	2	87	0.0230	-214	c.85+ others(17): Show c.85+10424_85+10637del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DPH7_chr9_137549444_137583925	137566453	CTCTGTCT others(207): Show CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTC CCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGT GAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGA CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	271	0.0037	-214	c.641 others(17): Show c.641-1513_641-1300del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566633	CTCTGTCT others(207): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGT GAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTC CCCGGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	316	0.0032	-214	c.641 others(17): Show c.641-1693_641-1480del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ELL2_chr5_95880098_95966851	95927401	ACACACAC others(207): Show ACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACAT ACACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACAT ACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATAC ACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACAT ACACACACACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG02622.hp1 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0019 a0001c0004t0001g0020 a0001c0004t0001g0019 a0001c0004t0001g0020	2	299	0.0067	-214	c.196 others(17): Show c.196-8070_196-7857del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
IL3RA_chrX_1331785_1387689	1366467	AGCGGGGT others(207): Show AGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGCGCGG GGTGAGCCCGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGA GCCGGGTGAGCGGGGTGAGCGGGGTGCGCGGTGCGCGGGGTGAGCGGGGT GCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCC GGGTGAGCGGGGTGC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	104	0.0096	-214	c.874 others(17): Show c.874+1227_874+1440del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCA1_chr2_236319151_236512476	236379285	AAGGGGAG others(207): Show AAGGGGAGGGAACCCCCAAACAGGGGAGCGACAGGACCAAGGGGAGGGAA CCCCCAAACAGGGGAGCGACAGGACCAAGGGAGAGGGGAGGGAACCCCCA AACAGGGGAGCGACAGGACCAAGGGAGAGGGGAGGGAACCCCCAAACAGG GGAGCGACAGGACCAAGGGAGAGGGGAGGGAACCCCCAAACAGGGGAGCG ACAGGACCAAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01070.hp1 others(16): Show HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01358.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02886.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0013 a0002c0023 a0002c0002 a0002c0013 a0002c0023	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0013t0002 a0002c0023t0009	a0002c0002t0001g0029 a0002c0002t0001g0071 a0002c0002t0001g0099 others(16): Show a0002c0002t0001g0029 a0002c0002t0001g0071 a0002c0002t0001g0099 a0002c0002t0001g0129 a0002c0002t0001g0152 a0002c0002t0001g0199 a0002c0002t0002g0030 a0002c0002t0002g0044 a0002c0002t0002g0134 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0004g0034 a0002c0002t0005g0110 a0002c0002t0007g0026 a0002c0002t0008g0014 a0002c0002t0008g0015 a0002c0002t0008g0024 a0002c0013t0002g0157 a0002c0023t0009g0177	19	200	0.0950	-214	c.147 others(19): Show c.1478+1070_1478+1283del	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	12/18			chr2	TogoVar
KNTC1_chr12_122522249_122631396	122533737	TTGGGGAA others(207): Show TTGGGGAATTTTCAAGGATTACACCTGGAGAAGATGACTTTTGAAATAGT CATAAAATGAGGTGATTAGCTGTATTTTGTCAGGGAAGAATAGGACTGGT TAACATTTATTGAGCATATACTATGTGCAGGGCTCTCTCATAAGCCCTTT ACGTGAATTCGTTTAATCTTTATTCAGGTGAACCTTGTAGGTATTATTAT TGTTACTCTTTTACA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	318	0.0031	-214	c.130 others(15): Show c.130-923_130-710del	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	2/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
MLPH_chr2_237482251_237560322	237544428	GGTGAATG others(207): Show GGTGAATGGGCACGGTAGTGAGTGGGGGGACAGTAGTGAGTGGGGACAGT GGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGG GGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTT ATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGG TGATTGGGCACTGTA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0011 a0011	a0011c0042 a0011c0042	a0011c0042t0002 a0011c0042t0002	a0011c0042t0002g0048 a0011c0042t0002g0048	1	275	0.0036	-214	c.153 others(19): Show c.1539+1774_1540-1960del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233790460	TCCTCCCT others(207): Show TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTTTCCTTTT TAATTGCCTGCCTTACTTACTCTTTCCCCTCCCTCCCCCTTTCTTTTTCT CCTTCCTTCCTTCCTTCCTCCCTCCCCTCCCCTTTCCCTCACCTCCCCTC CCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(54): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG01168.hp1 HG01192.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02293.hp2 HG02523.hp2 HG02683.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19086.hp2 NA19088.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0014 a0017 a0018 a0020 a0027 a0037 a0047 a0058 a0059 a0061 a0064 a0120 a0122	a0001c0001 a0002c0015 a0002c0016 others(29): Show a0001c0001 a0002c0015 a0002c0016 a0002c0040 a0002c0134 a0003c0002 a0003c0008 a0004c0007 a0004c0010 a0005c0006 a0005c0024 a0005c0089 a0007c0009 a0007c0025 a0008c0018 a0009c0005 a0010c0039 a0010c0106 a0014c0011 a0017c0023 a0018c0102 a0020c0143 a0020c0145 a0027c0141 a0037c0037 a0047c0068 a0058c0176 a0059c0070 a0061c0193 a0064c0146 a0120c0133 a0122c0113	a0001c0001t0001 a0002c0015t0001 a0002c0016t0001 others(29): Show a0001c0001t0001 a0002c0015t0001 a0002c0016t0001 a0002c0040t0001 a0002c0134t0001 a0003c0002t0001 a0003c0008t0001 a0004c0007t0001 a0004c0010t0001 a0005c0006t0001 a0005c0024t0001 a0005c0089t0001 a0007c0009t0001 a0007c0025t0001 a0008c0018t0001 a0009c0005t0001 a0010c0039t0001 a0010c0106t0001 a0014c0011t0001 a0017c0023t0001 a0018c0102t0001 a0020c0143t0001 a0020c0145t0001 a0027c0141t0001 a0037c0037t0001 a0047c0068t0001 a0058c0176t0001 a0059c0070t0001 a0061c0193t0001 a0064c0146t0001 a0120c0133t0001 a0122c0113t0001	a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0251 others(52): Show a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0277 a0001c0001t0001g0289 a0002c0015t0001g0207 a0002c0016t0001g0205 a0002c0040t0001g0110 a0002c0040t0001g0111 a0002c0134t0001g0283 a0003c0002t0001g0008 a0003c0002t0001g0106 a0003c0002t0001g0189 a0003c0002t0001g0226 a0003c0002t0001g0280 a0003c0008t0001g0223 a0003c0008t0001g0286 a0003c0008t0001g0290 a0004c0007t0001g0219 a0004c0007t0001g0224 a0004c0007t0001g0273 a0004c0010t0001g0220 a0005c0006t0001g0248 a0005c0006t0001g0250 a0005c0024t0001g0217 a0005c0024t0001g0247 a0005c0089t0001g0275 a0007c0009t0001g0218 a0007c0025t0001g0105 a0007c0025t0001g0291 a0007c0025t0001g0334 a0008c0018t0001g0006 a0008c0018t0001g0252 a0009c0005t0001g0191 a0009c0005t0001g0209 a0009c0005t0001g0222 a0010c0039t0001g0202 a0010c0106t0001g0276 a0014c0011t0001g0279 a0017c0023t0001g0204 a0018c0102t0001g0281 a0020c0143t0001g0155 a0020c0145t0001g0197 a0027c0141t0001g0255 a0037c0037t0001g0225 a0037c0037t0001g0282 a0047c0068t0001g0208 a0058c0176t0001g0048 a0059c0070t0001g0203 a0061c0193t0001g0069 a0064c0146t0001g0288 a0120c0133t0001g0249 a0122c0113t0001g0278	57	348	0.1638	-214	c.571 others(15): Show c.571+450_571+663del	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2085560	CTGCGTGG others(207): Show CTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCT CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0292 a0004c0007t0001g0292	1	383	0.0026	-214	c.164 others(17): Show c.1644+173_1644+386del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085975	GTGATCTC others(207): Show GTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCAC TGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCC CTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGG CCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGC GTGGCCCCACTGTCA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02109.hp2 HG02258.hp2 others(6): Show HG01934.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02615.hp1 HG02818.hp1 HG02965.hp1 HG03098.hp1 HG06807.hp1	a0001 a0002 a0012 others(4): Show a0001 a0002 a0012 a0013 a0028 a0029 a0061	a0001c0095 a0002c0006 a0002c0015 others(6): Show a0001c0095 a0002c0006 a0002c0015 a0012c0080 a0013c0184 a0028c0174 a0028c0175 a0029c0094 a0061c0099	a0001c0095t0001 a0002c0006t0001 a0002c0015t0001 others(6): Show a0001c0095t0001 a0002c0006t0001 a0002c0015t0001 a0012c0080t0001 a0013c0184t0001 a0028c0174t0001 a0028c0175t0001 a0029c0094t0001 a0061c0099t0001	a0001c0095t0001g0031 a0002c0006t0001g0120 a0002c0015t0001g0136 others(6): Show a0001c0095t0001g0031 a0002c0006t0001g0120 a0002c0015t0001g0136 a0012c0080t0001g0387 a0013c0184t0001g0055 a0028c0174t0001g0061 a0028c0175t0001g0060 a0029c0094t0001g0029 a0061c0099t0001g0394	9	360	0.0250	-214	c.164 others(17): Show c.1644+604_1644+817del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
PLEKHG1_chr6_150594885_150848665	150776446	CAGTTGCA others(207): Show CAGTTGCACATTACTCACACTGATGCAATCCTGGCGTACATGTGCAGTTG CACATCAGCCACACTGATGCAATCCTGGTGCACATGTGTGGTTGCACATT ACTCACACTGATGCAATCCTGGTGCACATGTGCAGTTGCACATTACTCAC ACTGATGCAGTCCTGGTGCACATGTGCGGTTGCACATTACACTGATGCAA TCCTGGTGCACGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp1 others(86): Show HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01934.hp2 HG01975.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG06807.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18991.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19066.hp2 NA19084.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0015 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(35): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0013 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0028 a0001c0055 a0001c0059 a0001c0061 a0001c0062 a0002c0009 a0002c0010 a0003c0011 a0003c0029 a0003c0063 a0004c0015 a0004c0025 a0004c0056 a0006c0024 a0006c0039 a0007c0027 a0008c0031 a0009c0060 a0010c0030 a0011c0048 a0015c0057 a0019c0042 a0020c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0029 a0001c0001t0031 a0001c0002t0001 a0001c0002t0005 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0006t0001 a0001c0006t0032 a0001c0007t0003 a0001c0008t0001 a0001c0013t0001 a0001c0013t0005 a0001c0016t0001 a0001c0016t0005 a0001c0016t0006 a0001c0017t0001 a0001c0018t0001 a0001c0019t0004 a0001c0021t0002 a0001c0022t0001 a0001c0028t0001 a0001c0055t0011 a0001c0059t0003 a0001c0061t0001 a0001c0062t0001 a0002c0009t0001 a0002c0010t0001 a0003c0011t0001 a0003c0011t0002 a0003c0029t0006 a0003c0063t0003 a0004c0015t0007 a0004c0025t0017 a0004c0056t0007 a0006c0024t0009 a0006c0039t0009 a0007c0027t0001 a0007c0027t0013 a0008c0031t0002 a0009c0060t0001 a0010c0030t0013 a0011c0048t0001 a0015c0057t0001 a0019c0042t0001 a0020c0034t0023	a0001c0001t0001g0010 a0001c0001t0001g0088 a0001c0001t0001g0089 others(86): Show a0001c0001t0001g0010 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0243 a0001c0001t0001g0266 a0001c0001t0002g0022 a0001c0001t0002g0171 a0001c0001t0002g0271 a0001c0001t0005g0204 a0001c0001t0029g0104 a0001c0001t0031g0135 a0001c0002t0001g0091 a0001c0002t0001g0116 a0001c0002t0001g0166 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0005g0156 a0001c0002t0005g0202 a0001c0002t0019g0042 a0001c0003t0001g0043 a0001c0003t0001g0058 a0001c0003t0001g0176 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0255 a0001c0003t0001g0258 a0001c0003t0002g0160 a0001c0003t0002g0167 a0001c0004t0001g0084 a0001c0004t0001g0134 a0001c0004t0001g0192 a0001c0004t0001g0196 a0001c0004t0001g0207 a0001c0004t0004g0248 a0001c0005t0001g0034 a0001c0006t0001g0194 a0001c0006t0032g0252 a0001c0007t0003g0013 a0001c0008t0001g0251 a0001c0013t0001g0209 a0001c0013t0005g0067 a0001c0016t0001g0025 a0001c0016t0001g0254 a0001c0016t0005g0214 a0001c0016t0006g0072 a0001c0017t0001g0228 a0001c0018t0001g0140 a0001c0019t0004g0065 a0001c0019t0004g0123 a0001c0021t0002g0168 a0001c0021t0002g0268 a0001c0022t0001g0090 a0001c0022t0001g0182 a0001c0028t0001g0003 a0001c0028t0001g0245 a0001c0055t0011g0061 a0001c0059t0003g0106 a0001c0061t0001g0006 a0001c0062t0001g0153 a0002c0009t0001g0087 a0002c0010t0001g0141 a0002c0010t0001g0164 a0002c0010t0001g0191 a0002c0010t0001g0225 a0003c0011t0001g0024 a0003c0011t0002g0045 a0003c0011t0002g0053 a0003c0011t0002g0157 a0003c0011t0002g0161 a0003c0011t0002g0162 a0003c0029t0006g0169 a0003c0063t0003g0163 a0004c0015t0007g0041 a0004c0015t0007g0121 a0004c0015t0007g0122 a0004c0025t0017g0155 a0004c0056t0007g0259 a0006c0024t0009g0147 a0006c0024t0009g0158 a0006c0039t0009g0040 a0007c0027t0001g0257 a0007c0027t0013g0229 a0008c0031t0002g0267 a0009c0060t0001g0244 a0010c0030t0013g0076 a0011c0048t0001g0133 a0015c0057t0001g0227 a0019c0042t0001g0011 a0020c0034t0023g0272	89	270	0.3296	-214	c.512 others(17): Show c.512+7709_512+7922del	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	4/16			chr6	TogoVar
POLG_chr15_89311320_89339824	89325034	CAGAGAGT others(207): Show CAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGA GAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGA GTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGT GAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGA GAGAGTGAGTGAGTG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	391	0.0026	-214	c.194 others(17): Show c.1949+202_1949+415del	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	AGGGGGCC others(207): Show AGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGAGTGTGA CTTGGGATGGGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	181	0.0055	-214	c.227 others(17): Show c.227+3418_227+3631del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397688	AGGGGGGC others(207): Show AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp2 HG01099.hp2 others(9): Show HG00099.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01516.hp1 HG01952.hp1 HG02148.hp2 HG02559.hp2 HG03490.hp1 HG03654.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0160 a0001c0002t0005g0173 a0001c0002t0005g0174 others(9): Show a0001c0002t0005g0160 a0001c0002t0005g0173 a0001c0002t0005g0174 a0001c0002t0005g0176 a0001c0002t0005g0178 a0001c0002t0005g0181 a0001c0002t0005g0182 a0001c0002t0005g0183 a0001c0002t0005g0184 a0001c0002t0005g0185 a0001c0002t0005g0186 a0001c0002t0005g0188	12	255	0.0471	-214	c.227 others(17): Show c.227+3605_227+3818del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PTPRE_chr10_127902103_128090855	127946386	TATATATA others(207): Show TATATATACAAGGATGTTTATTGCGGCAAAAAATAAAACACTAAATTTAT AATGGCAAGGCCTGTCAACAGGGAAAGATTGAAAAGAGATTGATTCTGCA TCTGCATCATGGAGCAGTCTGCAGCCCCTGGGAGATATTCATCAGACCTC GCAGGCTGGCAGGGAGGGATTTCCACCCCGCATTGGTAAGAGAGAAGAGC AAGATGCGCTTGCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(56): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG01081.hp2 HG01099.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01346.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp2 NA18966.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18994.hp2 NA18998.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19070.hp2 NA19087.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0002c0004 a0002c0013 a0004c0007 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0034 a0001c0001t0036 a0001c0001t0046 a0001c0002t0006 a0001c0002t0009 a0001c0003t0002 a0001c0006t0001 a0001c0008t0017 a0002c0004t0002 a0002c0004t0004 a0002c0013t0001 a0004c0007t0001 a0005c0009t0002	a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0176 others(56): Show a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0227 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0002g0013 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0200 a0001c0001t0002g0252 a0001c0001t0003g0070 a0001c0001t0003g0079 a0001c0001t0003g0109 a0001c0001t0005g0025 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0199 a0001c0001t0008g0258 a0001c0001t0013g0276 a0001c0001t0015g0059 a0001c0001t0017g0179 a0001c0001t0017g0194 a0001c0001t0021g0277 a0001c0001t0034g0189 a0001c0001t0036g0024 a0001c0001t0046g0281 a0001c0002t0006g0178 a0001c0002t0006g0204 a0001c0002t0006g0205 a0001c0002t0006g0278 a0001c0002t0006g0280 a0001c0002t0006g0282 a0001c0002t0006g0302 a0001c0002t0009g0263 a0001c0003t0002g0249 a0001c0006t0001g0004 a0001c0006t0001g0005 a0001c0008t0017g0286 a0002c0004t0002g0167 a0002c0004t0002g0187 a0002c0004t0002g0247 a0002c0004t0004g0063 a0002c0004t0004g0083 a0002c0004t0004g0113 a0002c0013t0001g0186 a0004c0007t0001g0208 a0005c0009t0002g0246	59	302	0.1954	-214	c.-30 others(19): Show c.-30-35885_-30-35672del	PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
RIPOR2_chr6_24799284_24940960	24927013	CCACCACC others(207): Show CCACCACCACCATGATTATTATAATCATCATCTCACTACCACCACCACCA CCACCACCACCACAACTACAATCACCACCACCATCACCACCACCACCATG ATTATTATAATCATCATCTCACTACCACCACCACCACCACCACCACCACA ACTACAATCACCACCACCATGACCACCACCACAACTACAAGCACCACCAC CACCACTACCACCAG	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0163 a0001c0008t0005g0163	1	323	0.0031	-214	c.61+ others(15): Show c.61+8611_61+8824del	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
SENP1_chr12_48037897_48111079	48056904	CATATTAC others(207): Show CATATTACATATATAATATATTATTTAATATATTACATATTACATATATA ATATATTATTTAATATATTACATATTACATATATAAATATATTATTTAAT ATATTACATATTACATATATAAATATATTATTTAATATATTATATATTAC ATATATAAATATATTATTTAATATATTATATATTACATATATAAATATAT TATTTAATATATTAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp2 HG01496.hp1 others(11): Show HG01099.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02257.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG06807.hp1 NA18974.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0005t0001	a0001c0001t0001g0028 a0001c0001t0001g0368 a0001c0001t0005g0281 others(11): Show a0001c0001t0001g0028 a0001c0001t0001g0368 a0001c0001t0005g0281 a0001c0001t0005g0286 a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0308 a0001c0001t0009g0302 a0001c0001t0015g0278 a0001c0005t0001g0085	14	327	0.0428	-214	c.140 others(19): Show c.1407+6592_1407+6805del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SKI_chr1_2223319_2315213	2281813	GGACGCCC others(207): Show GGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCC CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0325 a0001c0001t0006g0325	1	260	0.0038	-214	c.970 others(19): Show c.970-21163_970-20950del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPAG16_chr2_213279464_214415501	213980219	GTGTGTAT others(207): Show GTGTGTATATATATTCTCTATATATATAGAATATATGTGTGTATATATAT TCTCTATATATATAGAATATATGTGTGTATATATATTCTCTATATATATA GAATATATGTGTGTATATATATTCTCTATATATATAGAATATATGTGTGT ATATATATTCTCTATATATATAGAATATATGTGTGTATATATATTCTATA TATATATAGAATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02647.hp1 others(11): Show HG01891.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0009c0008 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0009c0008t0001 a0010c0011t0001	a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0002g0072 others(11): Show a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0002g0072 a0002c0002t0001g0075 a0002c0002t0001g0077 a0003c0003t0001g0043 a0003c0003t0001g0080 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023 a0005c0005t0001g0017 a0009c0008t0001g0084 a0010c0011t0001g0086	14	85	0.1647	-214	c.140 others(21): Show c.1401-33726_1401-33513del	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA22_chr17_3435019_3476819	3465047	GCCCCGTC others(207): Show GCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCTCCACCCGGCAGCCAC CCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCAGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCACCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(81): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00673.hp2 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03486.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 NA18942.hp2 NA18943.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19068.hp2 NA19077.hp2 NA19081.hp2 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 others(65): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0085 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0278 a0001c0001t0002g0291 a0001c0001t0003g0131 a0001c0001t0003g0134	84	417	0.2014	-214	c.172 others(17): Show c.172+2165_173-2281del	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	3/8			chr17	TogoVar
TMEM163_chr2_134450759_134724000	134607865	GACAGACC others(207): Show GACAGACCCCGAGAACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGA ACTGTGCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02897.hp2 HG02055.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0012 a0001c0001t0005g0001 a0001c0001t0001g0012 a0001c0001t0005g0001	2	211	0.0095	-214	c.323 others(19): Show c.323-55988_323-55775del	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TNC_chr9_115014575_115123157	115095444	GTGTATAT others(207): Show GTGTATATATATATGTATATATATATGTATATATATGTATATATATATGT ATATATATGTATATATATATGTATATATATGTATATATATATGTATATAT ATGTATATATATGTATATATATGTATATATATGTATATATATGTATATAT ATGTATATATATATGTATATATGTATATATATATGTATATATATGTATAT ATATATGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00621.hp2 others(42): Show HG00323.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01109.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG02273.hp2 HG02630.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03942.hp2 NA18612.hp2 NA18906.hp2 NA18953.hp2 NA18968.hp1 NA18983.hp2 NA19001.hp1 NA19058.hp1 NA19063.hp2 NA19080.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0003 a0004 others(17): Show a0001 a0003 a0004 a0005 a0006 a0009 a0012 a0014 a0015 a0018 a0022 a0031 a0032 a0034 a0045 a0046 a0047 a0048 a0055 a0056	a0001c0009 a0003c0003 a0003c0052 others(22): Show a0001c0009 a0003c0003 a0003c0052 a0003c0055 a0004c0004 a0004c0050 a0004c0051 a0005c0034 a0005c0037 a0006c0015 a0009c0092 a0012c0012 a0014c0016 a0015c0059 a0018c0026 a0022c0033 a0031c0053 a0032c0056 a0034c0054 a0045c0087 a0046c0058 a0047c0060 a0048c0057 a0055c0048 a0056c0049	a0001c0009t0001 a0003c0003t0001 a0003c0052t0001 others(23): Show a0001c0009t0001 a0003c0003t0001 a0003c0052t0001 a0003c0055t0001 a0004c0004t0002 a0004c0050t0014 a0004c0051t0004 a0005c0034t0002 a0005c0037t0004 a0006c0015t0002 a0006c0015t0005 a0009c0092t0002 a0012c0012t0006 a0014c0016t0006 a0015c0059t0002 a0018c0026t0006 a0022c0033t0001 a0031c0053t0018 a0032c0056t0001 a0034c0054t0005 a0045c0087t0003 a0046c0058t0001 a0047c0060t0014 a0048c0057t0014 a0055c0048t0005 a0056c0049t0002	a0001c0009t0001g0244 a0003c0003t0001g0229 a0003c0003t0001g0239 others(41): Show a0001c0009t0001g0244 a0003c0003t0001g0229 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0052t0001g0234 a0003c0055t0001g0238 a0004c0004t0002g0233 a0004c0050t0014g0345 a0004c0051t0004g0342 a0005c0034t0002g0197 a0005c0034t0002g0198 a0005c0037t0004g0152 a0006c0015t0002g0241 a0006c0015t0005g0004 a0006c0015t0005g0235 a0006c0015t0005g0236 a0009c0092t0002g0093 a0012c0012t0006g0057 a0012c0012t0006g0058 a0012c0012t0006g0059 a0012c0012t0006g0060 a0012c0012t0006g0061 a0012c0012t0006g0062 a0012c0012t0006g0063 a0014c0016t0006g0069 a0014c0016t0006g0071 a0014c0016t0006g0072 a0014c0016t0006g0073 a0014c0016t0006g0074 a0015c0059t0002g0067 a0018c0026t0006g0070 a0018c0026t0006g0075 a0022c0033t0001g0126 a0022c0033t0001g0127 a0022c0033t0001g0338 a0031c0053t0018g0245 a0032c0056t0001g0232 a0034c0054t0005g0237 a0045c0087t0003g0033 a0046c0058t0001g0248 a0047c0060t0014g0253 a0048c0057t0014g0346 a0055c0048t0005g0243 a0056c0049t0002g0242	45	364	0.1236	-214	c.-13 others(19): Show c.-136-4504_-136-4291del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27			chr9	TogoVar
ACAP3_chr1_1287391_1312930	1289832	TCTGCCCC others(206): Show TCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA21309.hp2 HG00438.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0213 a0001c0001t0002g0136 a0001c0001t0001g0213 a0001c0001t0002g0136	2	279	0.0072	-213	c.35 others(11): Show c.3519_*3731del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2558		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1237873	CCCCTCTC others(206): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCA TCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0018	1	106	0.0094	-213	c.136 others(19): Show c.1361+4045_1362-4029del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238499	CTCCCGGT others(206): Show CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCCT CCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGT GTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0024 a0001c0001t0012g0024	1	105	0.0095	-213	c.136 others(19): Show c.1361+3419_1361+3631del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
C1QTNF12_chr1_1237453_1251722	1248574	ACCAAGGG others(206): Show ACCAAGGGAGGCTGGACTTCCCAATCTACCCTACAGGCAGGAAAACAGGC AGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCTGCCCTAC AGGCCGGGACACAGGCAGCCCTGGGAGGCTGGAGCAAGGGAGGCTGGGCC TCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTAGAC CGAGGGAGGCTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0109 a0003c0004t0003g0109	1	326	0.0031	-213	c.-20 others(11): Show c.-2097_-1885del	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		1853		chr1	TogoVar
C7orf50_chr7_992006_1143247	1115590	TGGCATCA others(206): Show TGGCATCACTACAGCTCTAGGGATGGCTTCCATCACCAACGCCCACGCAG GATGATGACATCACTACAGCTCTAGGACCGGCTTCCATCACCAACGCCCA CGCAGGATGACTTCACTACAGCTCTACGGACCGGCTTCCATCACCGACGC CCACGCAGGATGATGACATCACTACAGCACTACGGACCGGCTTCCATCAC CAACGCCCACGCAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG03209.hp2 others(4): Show HG01243.hp1 HG02451.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03540.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0002c0002t0003	a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 others(4): Show a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0007g0164 a0001c0001t0008g0165 a0001c0001t0012g0292 a0002c0002t0003g0288	7	324	0.0216	-213	c.129 others(19): Show c.129+11454_129+11666del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1C_chr12_2047987_2702950	2106384	GGAGGGTT others(206): Show GGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCC TGGGGAGGGTTTCCACCTCAGCTGGGGTGTCCTGAAGCCACTGGGAGCCC ACCCCGGGGAGGGTTTCCACCTCAGCTGGGTGTCCTGAAGCCACTGGGCG CCCACCCTGGAGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGG GTGCTCACCCTGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0030 a0001c0011t0030	a0001c0011t0030g0039 a0001c0011t0030g0039	1	100	0.0100	-213	c.50- others(15): Show c.50-8825_50-8613del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNG8_chr19_53957937_53995215	53962562	AATTATTA others(206): Show AATTATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTG GGACGACTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTTAT TTATTAATTATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGA TGGTGGGATGACTTTCTTGGGCAGAAGACAAGAGTGGAGAGAGATTTCAT CTTATTTATTAATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03225.hp2 NA19240.hp1 HG02622.hp2 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0065 a0001c0002t0011 a0001c0001t0003 a0001c0001t0065 a0001c0002t0011	a0001c0001t0003g0255 a0001c0001t0065g0090 a0001c0002t0011g0035 a0001c0001t0003g0255 a0001c0001t0065g0090 a0001c0002t0011g0035	3	392	0.0077	-213	c.-58 others(9): Show c.-580_-368del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		374		chr19	TogoVar
CNTNAP2_chr7_146111801_148425998	147186864	ACTTGATC others(206): Show ACTTGATCTTTTCGGGCTGACCAGTAGGTCTTAAACTGTAGTGCATATTG TTATCACCTGGCAGACTTGTTAAACTGAAGGTTGCTGAGCCCCATTCTCA AAATTTCAGACTCAATAAGAATGAGTGGAGCCTAAACATTTCCATTCTAA CAAATGCTCAGGTGGAAATCACTTTGAAAAGCAAAGCTTTAGGGCTGGCA TATAAGGAGGATTG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA20129.hp1 HG03239.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0009 a0001c0002t0002 a0001c0006t0009	a0001c0002t0002g0040 a0001c0006t0009g0028 a0001c0002t0002g0040 a0001c0006t0009g0028	2	40	0.0500	-213	c.134 others(21): Show c.1348+54359_1348+54571del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
DACH1_chr13_71432966_71872204	71734677	CCCCATAT others(206): Show CCCCATATATATGTATATCCCATATACGTATACCCCATATATATGTATAT CCCATATACGTATACCCCATATATATGTATATCCCATATACGTATACCCC ATATATATGTATATCCCATATACGTATACCCCATATATATGTATATCCCA TATACGTATACCCCATATATATGTATATCCCATATACGTATACCCCATAT ACATATACGTATAT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02809.hp1 HG03453.hp2 others(2): Show HG02004.hp1 HG02809.hp1 HG03453.hp2 NA18522.hp1 NA19082.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0006t0003 a0002c0002t0003 others(1): Show a0001c0001t0003 a0001c0006t0003 a0002c0002t0003 a0003c0003t0002	a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0006t0003g0056 others(2): Show a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0006t0003g0056 a0002c0002t0003g0081 a0003c0003t0002g0005	5	65	0.0769	-213	c.849 others(19): Show c.849-52980_849-52768del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DGKB_chr7_14140049_14907751	14212174	TATTTACT others(206): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTT TTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATT TTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCT CGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	138	0.0072	-213	c.212 others(21): Show c.2123-34236_2123-34024del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212217	TTTTACTC others(206): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATT TTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCT CGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0145 a0001c0006t0004g0145	1	102	0.0098	-213	c.212 others(21): Show c.2123-34279_2123-34067del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHRS12_chr13_51762993_51809163	51775404	TCTCCTAC others(206): Show TCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTAT TCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTA CATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCT CCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	416	0.0024	-213	c.363 others(17): Show c.363+1443_364-1371del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DPEP1_chr16_89608642_89643433	89619057	CCCCTGCC others(206): Show CCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCCTGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCACTC CCCTCCCTGCAGCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	116	0.0086	-213	c.-10 others(19): Show c.-107+5351_-107+5563del	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ERFL_chr19_41902704_41933449	41914682	CATCTCTG others(206): Show CATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTT CCACCATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCC CCTTCCACCGTCTCTGTCTCTCCCTCCCCCTCCACCGTGTCTCCCCCCCT TTCCACCGTCTCTGTCTCTCCCCCCCTCCACCATCTCTGTCTCTCCCTCC CCTCCATCATCTCT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01943.hp2 HG01361.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	2	318	0.0063	-213	c.-13 others(17): Show c.-13-1963_-13-1751del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ESRRB_chr14_76371137_76506837	76485214	TGACACAA others(206): Show TGACACAATCAAATGCCTGATTTTTTTTTTTTTTTTTTTTTTTTGAGATG GAGTCTCCGCTCTCTTGCCTAGGCTGGAGTGCAGTGGTGCGATCTCGGCT CACTGCAATCTCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCACGTGCCACCACCCCTGGCTAATTTTTTTTT CTATCTTTAGTAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0274 a0001c0001t0032g0274	1	316	0.0032	-213	c.850 others(17): Show c.850+2458_850+2670del	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361892	CCACCTCC others(206): Show CCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCC ACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCAC CTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCA CCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACC ACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0076 a0001c0001t0064g0076	1	222	0.0045	-213	c.544 others(19): Show c.544-11297_544-11085del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362209	AGCACCAC others(206): Show AGCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCAC CACCACCTCCTCCTCCTCCACCACCACCACCTCCACCACCACCACCACCA CCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCTCC TCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCAC CACCTCCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0156 a0001c0001t0037g0156	1	223	0.0045	-213	c.544 others(19): Show c.544-11614_544-11402del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362310	CTCCAGCA others(206): Show CTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCTCCT CCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCACC ACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGCTCCAC CACCTCCTCCTCCACCACCACCACCACCACCACCACCATCTCCACCACCA CCACCACCATCTCT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0206 a0001c0001t0012g0206	1	227	0.0044	-213	c.544 others(19): Show c.544-11715_544-11503del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar

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